P05023
Gene name |
ATP1A1 |
Protein name |
Sodium/potassium-transporting ATPase subunit alpha-1 |
Names |
Na(+)/K(+) ATPase alpha-1 subunit, Sodium pump subunit alpha-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:476 |
EC number |
7.2.2.13: Linked to the hydrolysis of a nucleoside triphosphate |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
4 structures for P05023
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7E1Z | EM | 320 A | A | 1-1023 | PDB |
| 7E20 | EM | 270 A | A | 1-1023 | PDB |
| 7E21 | EM | 290 A | A | 1-1023 | PDB |
| AF-P05023-F1 | Predicted | AlphaFoldDB |
358 variants for P05023
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_081039 RCV001092891 rs1553190285 RCV000656712 CA341840480 |
48 | L>R | Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; no effect on Na(+)-dependent currents [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs724160008 RCV000149850 |
100 | F>missing | Aldosterone-producing adrenal cortex adenoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA211218 rs11540945 RCV000149851 |
104 | L>R | Aldosterone-producing adrenal cortex adenoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs193920762 COSM1178562 CA174297 RCV000149075 |
155 | S>L | Malignant tumor of prostate prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA341843960 rs1557785499 RCV000754797 |
302 | L>P | Hypomagnesemia, seizures, and intellectual disability 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_081937 | 302 | L>R | HOMGSMR2; results in altered sodium and potassium transport as shown by in vitro functional expression of the homologous rat variant [UniProt] | Yes | UniProt |
|
RCV000754798 rs1557785503 CA341843963 VAR_081938 |
303 | G>R | Hypomagnesemia, seizures, and intellectual disability 2 HOMGSMR2; results in altered sodium and potassium transport as shown by in vitro functional expression of the homologous rat variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs724160010 CA211223 RCV000149853 |
332 | V>G | Variant assessed as Somatic; impact. Aldosterone-producing adrenal cortex adenoma [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1401759980 RCV000850471 CA341844195 |
333 | P>R | Marfanoid habitus and intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_081040 rs1553192086 CA341771587 RCV000656715 RCV001855351 |
592 | I>T | Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_081041 | 597 | A>T | CMT2DD; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_081042 RCV000656713 rs1553192091 CA341771634 |
600 | P>A | Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; shows fewer Na(+)-dependent currents than wild-type protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1553192091 RCV000656714 RCV002534251 CA341771633 VAR_081043 |
600 | P>T | Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_081044 | 601 | D>F | CMT2DD; unknown pathological significance; requires 2 nucleotide substitutions [UniProt] | Yes | UniProt |
|
rs1652955697 RCV001280844 |
622 | I>M | Hypomagnesemia, seizures, and intellectual disability 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA341772440 rs1570973191 RCV000850440 |
674 | T>S | Marfanoid habitus and intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000656716 CA341773876 VAR_081045 rs1553192783 |
811 | D>A | Charcot-marie-tooth disease, axonal, type 2DD CMT2DD; shows fewer Na(+)-dependent currents than wild-type protein [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001331357 rs1653241392 RCV001800984 |
844 | L>P | Charcot-marie-tooth disease, axonal, type 2DD Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001198395 rs1436880886 CA341774326 |
848 | R>W | Hypomagnesemia, seizures, and intellectual disability 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs781629728 CA341774769 VAR_081939 RCV000754799 |
859 | M>R | Hypomagnesemia, seizures, and intellectual disability 2 HOMGSMR2; results in altered sodium and potassium transport as shown by in vitro functional expression of the homologous rat variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA341775664 rs1570980551 RCV000845571 |
931 | W>R | Hypomagnesemia, seizures, and intellectual disability 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1653448255 RCV001290135 |
937 | C>missing | Charcot-marie-tooth disease, axonal, type 2DD [ClinVar] | Yes |
ClinVar dbSNP |
|
rs976510541 CA30059094 |
3 | K>R | No |
ClinGen Ensembl |
|
|
CA341838785 rs1307008508 |
4 | G>R | No |
ClinGen TOPMed |
|
|
rs780694923 CA1025000 |
5 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756724088 CA1024999 |
5 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341840172 rs1429384765 |
7 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs146195513 CA30066711 |
7 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs146195513 CA341840174 |
7 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146195513 CA341840173 |
7 | R>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1429384765 CA341840170 |
7 | R>S | No |
ClinGen gnomAD |
|
|
CA341840177 rs1218878696 |
8 | D>G | No |
ClinGen gnomAD |
|
|
rs745357199 CA1025001 |
8 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1025002 rs769191909 |
9 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA916269869 rs1557781915 |
15 | V>G | No |
ClinGen Ensembl |
|
|
rs1557781926 CA916269870 |
16 | S>* | No |
ClinGen Ensembl |
|
|
CA30066721 rs111860221 |
16 | S>P | No |
ClinGen gnomAD |
|
|
CA341840229 rs111860221 |
16 | S>T | No |
ClinGen gnomAD |
|
|
CA341840252 rs1446413621 |
19 | G>C | No |
ClinGen gnomAD |
|
|
CA30066736 rs11540944 |
20 | D>H | No |
ClinGen Ensembl |
|
|
rs772388569 CA1025007 |
23 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 25 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30066740 rs906254720 |
27 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA30066742 rs985672025 |
27 | K>R | No |
ClinGen Ensembl |
|
|
CA341840361 rs1245475227 |
34 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 38 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341840411 rs1384870128 |
41 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341840446 rs1354383018 |
43 | D>E | No |
ClinGen gnomAD |
|
|
CA341840440 rs1217480321 |
43 | D>N | No |
ClinGen gnomAD |
|
|
CA30067213 rs12564026 VAR_048374 |
47 | S>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA30067216 rs200260779 |
47 | S>R | No |
ClinGen Ensembl |
|
|
CA1025030 rs778261406 |
49 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1386911088 CA341840490 |
50 | E>Q | No |
ClinGen TOPMed |
|
|
CA341840505 rs1347327000 |
52 | H>Y | No |
ClinGen gnomAD |
|
|
CA1025031 rs747334872 |
53 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA341840513 rs369738549 |
53 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1025032 rs369738549 |
53 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755576753 CA1025034 |
61 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 61 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158326714 CA341840714 |
64 | T>R | No |
ClinGen gnomAD |
|
|
CA30068890 rs923288032 |
66 | A>V | No |
ClinGen Ensembl |
|
|
rs764680790 CA1025072 |
67 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM243113 CA341840751 rs1159387961 |
67 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA341840769 rs1286662752 |
68 | A>V | No |
ClinGen TOPMed |
|
|
CA1025073 rs751968061 |
73 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1025076 rs564786229 |
74 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341840854 rs1305466076 |
75 | D>N | No |
ClinGen gnomAD |
|
|
rs1421893391 CA341840906 |
78 | N>S | No |
ClinGen gnomAD |
|
|
rs1004452127 CA30068901 |
79 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA30068927 rs958115046 |
81 | T>A | No |
ClinGen TOPMed |
|
|
rs974563697 CA30068931 |
81 | T>S | No |
ClinGen TOPMed |
|
|
rs1346636921 CA341840975 |
83 | P>R | No |
ClinGen gnomAD |
|
|
CA341840967 rs1455656263 |
83 | P>S | No |
ClinGen TOPMed |
|
|
CA30068939 rs921800708 |
85 | T>S | No |
ClinGen TOPMed |
|
|
rs780391814 CA1025078 |
86 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1025079 rs749401049 |
87 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341841022 rs749401049 |
87 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1025083 rs145341046 |
94 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341841154 rs1159259511 |
94 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA341841180 rs1412944529 |
95 | Q>R | No |
ClinGen gnomAD |
|
|
CA1025085 rs760427027 |
98 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1570953900 CA341841260 |
100 | F>V | No |
ClinGen Ensembl |
|
| rs1360019202 | 100 | F>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341841288 rs764588242 |
102 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764588242 CA1025089 |
102 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341841438 rs1312465041 |
113 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA341841465 rs1255922024 |
116 | S>C | No |
ClinGen gnomAD |
|
|
rs756497821 CA1025094 |
124 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341841545 rs1179203009 |
124 | E>G | No |
ClinGen gnomAD |
|
|
CA341841591 rs1193050533 |
128 | D>N | No |
ClinGen gnomAD |
|
|
rs773814995 CA1025110 |
131 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs761125134 CA1025111 |
135 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1483586374 CA341842210 |
141 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 144 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755220071 CA1025114 |
149 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1398962674 CA341842265 |
149 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 160 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 163 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 176 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476953195 CA341842504 |
180 | I>V | No |
ClinGen TOPMed |
|
|
rs139745455 CA1025143 |
182 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA341842574 rs1280983367 |
190 | L>Q | No |
ClinGen gnomAD |
|
|
CA1025146 rs747627862 |
190 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777143274 CA1025148 |
193 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA30069731 rs145790737 |
194 | K>N | No |
ClinGen ESP TOPMed |
|
|
rs759845712 CA1025149 |
198 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1444488629 CA341842645 |
202 | D>H | No |
ClinGen gnomAD |
|
|
CA341842654 rs1311490781 |
203 | L>F | No |
ClinGen gnomAD |
|
|
CA1025150 rs770133739 |
205 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA341842672 rs1232676566 |
206 | I>V | No |
ClinGen gnomAD |
|
|
CA1025151 rs775593117 |
208 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1347486125 CA341842688 |
208 | A>V | No |
ClinGen gnomAD |
|
|
rs1264667039 CA341842753 |
216 | S>A | No |
ClinGen gnomAD |
|
|
CA341842764 rs1452922227 |
217 | S>L | No |
ClinGen gnomAD |
|
|
CA30069853 rs992887190 |
226 | T>P | No |
ClinGen Ensembl |
|
|
CA341842902 rs1424170832 |
233 | N>T | No |
ClinGen gnomAD |
|
|
CA1025169 rs775902817 |
234 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341843018 rs1387469739 |
240 | R>G | No |
ClinGen gnomAD |
|
|
CA1025172 rs202098437 |
240 | R>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA30069877 rs917361832 |
244 | F>Y | No |
ClinGen TOPMed |
|
|
CA1025174 rs767575185 |
247 | T>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001317016 rs1652274501 |
248 | N>S | No |
ClinVar dbSNP |
|
|
CA341843196 rs1321578905 |
250 | V>I | No |
ClinGen gnomAD |
|
|
CA341843369 rs1263162539 |
254 | A>T | No |
ClinGen TOPMed |
|
|
rs759405523 CA1025196 |
255 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA341843391 rs1258171077 |
255 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA30070107 rs1036506727 |
260 | Y>F | No |
ClinGen Ensembl |
|
|
rs1328025079 CA341843541 |
264 | R>C | No |
ClinGen TOPMed |
|
|
CA1025197 rs765069962 |
264 | R>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs866032260 CA30070134 |
277 | L>P | No |
ClinGen Ensembl |
|
|
rs752531768 CA1025198 |
278 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 294 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30070143 rs866444285 |
297 | G>C | No |
ClinGen Ensembl |
|
|
rs77346051 CA1025202 |
300 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 302 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1471033105 CA341843966 |
303 | G>A | No |
ClinGen TOPMed |
|
|
rs200841398 CA30070172 |
304 | V>A | No |
ClinGen 1000Genomes |
|
|
rs930844243 CA30070173 |
308 | I>S | No |
ClinGen Ensembl |
|
|
CA341844033 rs1307241673 |
314 | E>Q | No |
ClinGen gnomAD |
|
|
rs779317338 CA1025207 |
326 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1025209 rs772383915 |
329 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA341844196 rs1401759980 |
333 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1025214 rs759607882 |
341 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341844269 rs1426324449 |
343 | C>F | No |
ClinGen gnomAD |
|
|
CA30070521 rs11540957 |
346 | L>F | No |
ClinGen Ensembl |
|
|
CA341844301 rs1348829568 |
349 | K>E | No |
ClinGen gnomAD |
|
|
rs747138813 CA1025230 |
350 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA341844317 rs1477922183 |
351 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771268719 CA1025231 |
353 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 355 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 370 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341844508 rs1289108099 |
379 | G>R | No |
ClinGen gnomAD |
|
|
CA341844548 rs1269859843 COSM3417923 |
385 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM73775 CA1025235 rs775243249 |
385 | R>W | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA341844587 rs1252478023 |
391 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1025240 rs138556439 |
395 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 397 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA30070574 rs112808861 |
397 | I>V | No |
ClinGen gnomAD |
|
|
CA341844657 rs1403085659 |
400 | A>T | No |
ClinGen gnomAD |
|
|
CA341844676 rs1165006226 |
402 | T>M | No |
ClinGen gnomAD |
|
|
rs1246192772 CA341844695 |
405 | N>S | No |
ClinGen TOPMed |
|
|
CA341844705 rs1296073565 |
406 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA341844732 rs1238127035 |
408 | G>V | No |
ClinGen gnomAD |
|
|
CA341844765 rs1351759100 |
413 | K>R | No |
ClinGen gnomAD |
|
|
rs372871986 CA1025266 |
416 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs891256379 CA30070932 |
417 | T>A | No |
ClinGen Ensembl |
|
|
rs911157867 CA30070936 |
417 | T>I | No |
ClinGen TOPMed |
|
|
CA341844791 rs1444588236 |
418 | W>R | No |
ClinGen gnomAD |
|
|
CA341844801 rs1570959486 |
419 | L>F | No |
ClinGen Ensembl |
|
|
rs764635041 CA1025267 |
421 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1025269 rs757650235 |
422 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341844845 rs1266324574 |
426 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 431 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341844935 rs1427201017 |
439 | N>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 443 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750806208 CA1025291 |
445 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA29660272 rs747605557 |
456 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 458 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 460 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs922631358 CA29660281 |
460 | I>V | No |
ClinGen TOPMed |
|
|
rs1250825397 CA341770428 |
468 | K>R | No |
ClinGen TOPMed |
|
|
rs1181286163 CA341770434 |
469 | E>K | No |
ClinGen TOPMed |
|
|
CA341770451 rs1347690405 |
470 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1347690405 CA341770454 |
470 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA29660322 rs934067705 |
472 | E>G | No |
ClinGen TOPMed |
|
|
CA1025299 rs370297737 |
473 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1025302 rs148719009 |
475 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM894391 CA1025301 rs148719009 |
475 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201409287 CA1025305 |
478 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 483 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341770676 rs1320985329 |
488 | Y>* | No |
ClinGen TOPMed |
|
|
CA341770779 rs1402054299 |
493 | H>Y | No |
ClinGen gnomAD |
|
|
CA341770818 rs751451407 |
496 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs751451407 CA1025336 |
496 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs141400264 CA1025338 |
499 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141400264 CA1025339 |
499 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1025342 rs748836037 |
500 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1025341 rs779802423 |
500 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768214820 CA1025343 |
502 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 503 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341770895 rs144872101 |
503 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1025344 rs778154659 |
503 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767656830 CA29661117 |
506 | V>A | No |
ClinGen Ensembl |
|
|
rs574791429 CA341771037 |
517 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574791429 CA1025348 |
517 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341771039 rs11540949 |
517 | R>H | No |
ClinGen gnomAD |
|
|
CA29661125 rs11540949 |
517 | R>L | No |
ClinGen gnomAD |
|
|
CA341771087 rs1339242029 |
522 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA29661152 rs910066930 |
525 | G>S | No |
ClinGen Ensembl |
|
|
rs1370663382 CA341771126 |
527 | E>K | No |
ClinGen gnomAD |
|
|
CA341771140 rs1307308245 |
528 | Q>H | No |
ClinGen gnomAD |
|
|
CA341771139 rs1225144480 |
528 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 530 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341771167 rs1570964688 |
532 | E>D | No |
ClinGen Ensembl |
|
|
rs764106140 CA1025352 |
532 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs142766448 CA1025354 COSM159267 |
536 | D>E | NS [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs941562505 CA29661190 |
536 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 541 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs554306933 CA1025357 |
542 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766132580 CA1025358 |
544 | E>Q | No |
ClinGen ExAC gnomAD |
|
| rs760784617 | 547 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 548 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341771347 rs1411149485 |
557 | H>Q | No |
ClinGen gnomAD |
|
|
rs754714789 CA1025379 |
564 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29662455 rs866553949 |
568 | G>E | No |
ClinGen gnomAD |
|
|
rs757809799 CA1025382 |
575 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs77217304 CA1025384 |
580 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs796431957 CA29662482 |
582 | N>D | No |
ClinGen Ensembl |
|
|
CA29662490 rs369543323 |
582 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs780464509 CA1025387 |
586 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1025386 rs780464509 |
586 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768973685 CA1025388 |
590 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 591 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs893896136 CA29662529 |
603 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1557789877 CA341771675 |
606 | C>Y | No |
ClinGen Ensembl |
|
|
rs1283565006 CA341772089 |
624 | A>T | No |
ClinGen gnomAD |
|
|
rs921744874 CA29663691 |
627 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 638 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341772184 rs1436762122 |
638 | N>S | No |
ClinGen gnomAD |
|
|
rs1570970680 CA341772197 |
640 | T>P | No |
ClinGen Ensembl |
|
|
rs769421768 CA1025417 |
641 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762583802 CA1025419 |
644 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1201285937 CA341772236 |
646 | A>T | No |
ClinGen gnomAD |
|
|
CA1025420 rs372681379 |
646 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341772241 rs1238522812 |
647 | R>C | No |
ClinGen TOPMed |
|
|
rs201085928 CA1025421 |
647 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919369021 CA29663725 |
648 | L>P | No |
ClinGen TOPMed |
|
|
rs1395827507 CA341772255 |
649 | N>S | No |
ClinGen gnomAD |
|
|
rs1439104737 CA341772271 |
651 | P>L | No |
ClinGen Ensembl |
|
|
rs1336646309 CA341772276 |
652 | V>A | No |
ClinGen gnomAD |
|
|
rs1194998549 CA341772282 |
653 | S>T | No |
ClinGen gnomAD |
|
|
CA29663736 rs202066011 |
654 | Q>E | No |
ClinGen 1000Genomes |
|
|
CA1025423 rs766905602 |
657 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1490776856 CA341772346 |
661 | K>R | No |
ClinGen gnomAD |
|
|
rs1210280323 CA341772355 |
662 | A>V | No |
ClinGen gnomAD |
|
|
rs200285355 CA1025458 |
664 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs140135222 CA1025460 |
667 | G>S | No |
ClinGen ESP ExAC |
|
| TCGA novel | 671 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1025464 rs768375815 |
676 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 682 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288667083 CA341772503 |
683 | K>N | No |
ClinGen gnomAD |
|
|
CA341772508 rs1383372068 |
684 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1177991548 CA341772515 |
685 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 687 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266835711 CA341772546 |
689 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 689 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29664678 rs181070201 |
702 | V>M | No |
ClinGen 1000Genomes |
|
| rs902103517 | 708 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402651344 CA341772970 |
709 | G>S | No |
ClinGen gnomAD |
|
|
rs1407614555 CA341772975 |
709 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 721 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1293321023 CA341773122 |
731 | G>V | No |
ClinGen gnomAD |
|
|
CA341773123 rs1288773906 |
732 | V>I | No |
ClinGen gnomAD |
|
|
rs1221578816 CA341773136 |
734 | M>V | No |
ClinGen gnomAD |
|
|
rs781780318 CA29665284 |
737 | A>T | No |
ClinGen Ensembl |
|
|
CA341773161 rs1312834908 |
737 | A>V | No |
ClinGen gnomAD |
|
|
rs758143918 CA1025501 |
743 | K>R | No |
ClinGen ExAC |
|
|
CA341773302 rs1246429588 |
758 | I>F | No |
ClinGen gnomAD |
|
|
rs11540954 CA29665327 |
761 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs138064651 CA1025504 |
762 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs956023678 CA29665573 |
766 | R>H | No |
ClinGen Ensembl |
|
|
CA341773464 rs1201985754 |
776 | I>F | No |
ClinGen TOPMed |
|
|
rs747283959 CA1025531 |
789 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA341773729 rs1446826980 |
795 | I>M | No |
ClinGen gnomAD |
|
|
rs776767098 CA1025533 |
796 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341773752 rs1367224721 |
797 | N>S | No |
ClinGen Ensembl |
|
|
CA341773859 rs1242082318 |
809 | C>F | No |
ClinGen gnomAD |
|
|
CA341773929 rs1248998698 COSM3801399 |
817 | V>A | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs753467237 CA29666077 |
827 | A>S | No |
ClinGen Ensembl |
|
|
rs756876559 CA29666078 |
827 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 830 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865875870 CA29666093 |
839 | P>T | No |
ClinGen Ensembl |
|
|
rs1261870395 CA341774218 |
840 | K>T | No |
ClinGen gnomAD |
|
|
CA29666095 rs12724229 |
841 | T>P | No |
ClinGen Ensembl |
|
|
rs1557793103 CA341774236 |
841 | T>R | No |
ClinGen Ensembl |
|
|
CA341774256 rs1342249879 |
843 | K>* | No |
ClinGen gnomAD |
|
|
CA341774255 rs1342249879 |
843 | K>E | No |
ClinGen gnomAD |
|
|
rs1557793134 CA341774328 |
848 | R>Q | No |
ClinGen Ensembl |
|
|
rs963515301 CA29666117 |
849 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 853 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781629728 CA1025588 |
859 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1025592 rs749535308 |
870 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA341774951 rs1299272466 |
876 | N>H | No |
ClinGen gnomAD |
|
|
rs772164096 CA1025596 |
877 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA29667420 rs976897509 |
879 | L>F | No |
ClinGen Ensembl |
|
|
CA1025599 rs770689048 |
881 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA29667442 rs879242854 |
885 | G>D | No |
ClinGen Ensembl |
|
|
rs1570979931 CA341775014 |
886 | L>I | No |
ClinGen Ensembl |
|
|
rs1248823681 CA341775021 |
887 | R>* | No |
ClinGen gnomAD |
|
|
CA341775030 rs1570979952 |
888 | V>E | No |
ClinGen Ensembl |
|
|
CA341775031 rs1570979962 |
889 | D>N | No |
ClinGen Ensembl |
|
|
CA1025601 rs759150142 |
891 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 892 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764919483 CA1025602 |
893 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1025603 rs775005099 |
893 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570979998 CA341775095 |
894 | W>R | No |
ClinGen Ensembl |
|
|
CA29667477 rs983463553 |
903 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 905 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570980329 CA341775390 |
907 | T>P | No |
ClinGen Ensembl |
|
|
CA1025625 rs373693545 CA341775452 |
909 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA29667711 rs11540950 |
910 | Q>* | No |
ClinGen ExAC |
|
|
CA1025626 rs11540950 |
910 | Q>E | No |
ClinGen ExAC |
|
|
CA1025629 rs765387548 |
915 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs753022560 CA1025630 |
916 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753022560 CA1025631 |
916 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747061651 CA1025633 |
917 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA341775596 rs1319543170 |
921 | A>T | No |
ClinGen TOPMed |
|
|
CA341775620 rs1479883375 |
924 | V>I | No |
ClinGen gnomAD |
|
|
rs775252649 CA1025638 |
927 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1025642 rs761343155 |
935 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1025646 rs765762308 |
948 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1368453220 CA341775797 |
949 | M>I | No |
ClinGen gnomAD |
|
|
CA1025658 rs768322777 |
955 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295272161 CA341775866 |
956 | F>L | No |
ClinGen gnomAD |
|
|
CA341775970 rs1205596969 |
964 | L>V | No |
ClinGen TOPMed |
|
|
rs771666666 CA1025661 |
971 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1025663 rs760128653 |
976 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1287302513 CA341776171 |
979 | R>T | No |
ClinGen TOPMed |
|
|
CA29668153 rs112208164 |
983 | L>P | No |
ClinGen Ensembl |
|
|
CA1025665 rs776018998 |
984 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA341776281 rs776018998 |
984 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341776294 rs1247867551 |
984 | K>R | No |
ClinGen gnomAD |
|
|
CA341777295 rs1159632321 |
985 | P>H | No |
ClinGen TOPMed |
|
|
CA29669845 rs771215472 |
986 | T>I | No |
ClinGen Ensembl |
|
|
CA341777369 rs1272955218 |
995 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753827120 CA1025693 |
1000 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1006 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490428511 CA341777453 |
1007 | L>R | No |
ClinGen gnomAD |
|
|
CA341777457 rs1440360198 |
1008 | I>N | No |
ClinGen gnomAD |
|
|
CA341777463 rs1211929333 |
1009 | I>L | No |
ClinGen gnomAD |
|
|
CA1025697 rs758090295 |
1011 | R>Q | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1025698 rs777250534 |
1012 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA341777480 rs777250534 |
1012 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs746521823 CA1025699 |
1012 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341777489 rs1414092859 |
1014 | G>S | No |
ClinGen gnomAD |
|
|
CA341777903 rs1570987397 |
1017 | V>G | No |
ClinGen Ensembl |
2 associated diseases with P05023
[MIM: 618036]: Charcot-Marie-Tooth disease 2DD (CMT2DD)
A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
[MIM: 618314]: Hypomagnesemia, seizures, and intellectual disability 2 (HOMGSMR2)
An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability. {ECO:0000269|PubMed:30388404}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology
- An autosomal dominant disease characterized by generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant intellectual disability. {ECO:0000269|PubMed:30388404}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P05023
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P05023 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 7.2.2.13 | Linked to the hydrolysis of a nucleoside triphosphate |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
21 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular vesicle | Any vesicle that is part of the extracellular region. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| melanosome | A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| organelle membrane | A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. |
| photoreceptor inner segment membrane | The membrane surrounding the inner segment of a vertebrate photoreceptor. The photoreceptor inner segment contains mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| sodium:potassium-exchanging ATPase complex | Sodium:potassium-exchanging ATPases are tetrameric proteins, consisting of two large alpha subunits and two smaller beta subunits. The alpha subunits bear the active site and penetrate the membrane, while the beta subunits carry oligosaccharide groups and face the cell exterior. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
| T-tubule | Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| ATPase-coupled cation transmembrane transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + cation(out) = ADP + phosphate + cation(in). |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| P-type sodium:potassium-exchanging transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + Na+(in) + K+(out) = ADP + phosphate + Na+(out) + K+(in). |
| phosphatase activity | Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. |
| potassium ion binding | Binding to a potassium ion (K+). |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| sodium ion binding | Binding to a sodium ion (Na+). |
| steroid hormone binding | Binding to a steroid hormone. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac muscle cell action potential involved in contraction | An action potential that occurs in a cardiac muscle cell and is involved in its contraction. |
| cell communication by electrical coupling involved in cardiac conduction | The process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels and contributes to the process of cardiac conduction. |
| cellular potassium ion homeostasis | Any process involved in the maintenance of an internal steady state of potassium ions at the level of a cell. |
| cellular response to steroid hormone stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a steroid hormone stimulus. |
| cellular sodium ion homeostasis | Any process involved in the maintenance of an internal steady state of sodium ions at the level of a cell. |
| establishment or maintenance of transmembrane electrochemical gradient | The directed movement of ions to establish or maintain an electrochemical gradient across a membrane by means of some agent such as a transporter or pore. |
| membrane repolarization | The process in which ions are transported across a membrane such that the membrane potential changes in the repolarizing direction, toward the steady state potential. For example, the repolarization during an action potential is from a positive membrane potential towards a negative resting potential. |
| membrane repolarization during cardiac muscle cell action potential | The process in which ions are transported across a membrane such that the cardiac muscle cell plasma membrane potential changes in the direction from the positive membrane potential at the peak of the action potential towards the negative resting potential. |
| negative regulation of glucocorticoid biosynthetic process | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. |
| negative regulation of heart contraction | Any process that stops, prevents, or reduces the frequency, rate or extent of heart contraction. |
| positive regulation of heart contraction | Any process that activates or increases the frequency, rate or extent of heart contraction. |
| positive regulation of striated muscle contraction | Any process that activates or increases the frequency, rate or extent of striated muscle contraction. |
| potassium ion import across plasma membrane | The directed movement of potassium ions from outside of a cell, across the plasma membrane and into the cytosol. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| regulation of blood pressure | Any process that modulates the force with which blood travels through the circulatory system. The process is controlled by a balance of processes that increase pressure and decrease pressure. |
| regulation of sodium ion transport | Any process that modulates the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of the force of heart contraction | Any process that modulates the extent of heart contraction, changing the force with which blood is propelled. |
| relaxation of cardiac muscle | The process in which the extent of cardiac muscle contraction is reduced. |
| response to glycoside | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glycoside stimulus. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| sodium ion export across plasma membrane | The directed movement of sodium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P13607 | Atpalpha | Sodium/potassium-transporting ATPase subunit alpha | Drosophila melanogaster (Fruit fly) | PR |
| P20648 | ATP4A | Potassium-transporting ATPase alpha chain 1 | Homo sapiens (Human) | PR |
| P54707 | ATP12A | Potassium-transporting ATPase alpha chain 2 | Homo sapiens (Human) | PR |
| Q64436 | Atp4a | Potassium-transporting ATPase alpha chain 1 | Mus musculus (Mouse) | PR |
| Q9Z1W8 | Atp12a | Potassium-transporting ATPase alpha chain 2 | Mus musculus (Mouse) | PR |
| Q6PIE5 | Atp1a2 | Sodium/potassium-transporting ATPase subunit alpha-2 | Mus musculus (Mouse) | PR |
| Q6PIC6 | Atp1a3 | Sodium/potassium-transporting ATPase subunit alpha-3 | Mus musculus (Mouse) | PR |
| Q9WV27 | Atp1a4 | Sodium/potassium-transporting ATPase subunit alpha-4 | Mus musculus (Mouse) | PR |
| Q8VDN2 | Atp1a1 | Sodium/potassium-transporting ATPase subunit alpha-1 | Mus musculus (Mouse) | PR |
| P19156 | ATP4A | Potassium-transporting ATPase alpha chain 1 | Sus scrofa (Pig) | PR |
| P54708 | Atp12a | Potassium-transporting ATPase alpha chain 2 | Rattus norvegicus (Rat) | PR |
| P09626 | Atp4a | Potassium-transporting ATPase alpha chain 1 | Rattus norvegicus (Rat) | PR |
| Q64541 | Atp1a4 | Sodium/potassium-transporting ATPase subunit alpha-4 | Rattus norvegicus (Rat) | PR |
| P06685 | Atp1a1 | Sodium/potassium-transporting ATPase subunit alpha-1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGKGVGRDKY | EPAAVSEQGD | KKGKKGKKDR | DMDELKKEVS | MDDHKLSLDE | LHRKYGTDLS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGLTSARAAE | ILARDGPNAL | TPPPTTPEWI | KFCRQLFGGF | SMLLWIGAIL | CFLAYSIQAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TEEEPQNDNL | YLGVVLSAVV | IITGCFSYYQ | EAKSSKIMES | FKNMVPQQAL | VIRNGEKMSI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NAEEVVVGDL | VEVKGGDRIP | ADLRIISANG | CKVDNSSLTG | ESEPQTRSPD | FTNENPLETR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NIAFFSTNCV | EGTARGIVVY | TGDRTVMGRI | ATLASGLEGG | QTPIAAEIEH | FIHIITGVAV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FLGVSFFILS | LILEYTWLEA | VIFLIGIIVA | NVPEGLLATV | TVCLTLTAKR | MARKNCLVKN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LEAVETLGST | STICSDKTGT | LTQNRMTVAH | MWFDNQIHEA | DTTENQSGVS | FDKTSATWLA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LSRIAGLCNR | AVFQANQENL | PILKRAVAGD | ASESALLKCI | ELCCGSVKEM | RERYAKIVEI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PFNSTNKYQL | SIHKNPNTSE | PQHLLVMKGA | PERILDRCSS | ILLHGKEQPL | DEELKDAFQN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AYLELGGLGE | RVLGFCHLFL | PDEQFPEGFQ | FDTDDVNFPI | DNLCFVGLIS | MIDPPRAAVP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DAVGKCRSAG | IKVIMVTGDH | PITAKAIAKG | VGIISEGNET | VEDIAARLNI | PVSQVNPRDA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KACVVHGSDL | KDMTSEQLDD | ILKYHTEIVF | ARTSPQQKLI | IVEGCQRQGA | IVAVTGDGVN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DSPALKKADI | GVAMGIAGSD | VSKQAADMIL | LDDNFASIVT | GVEEGRLIFD | NLKKSIAYTL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TSNIPEITPF | LIFIIANIPL | PLGTVTILCI | DLGTDMVPAI | SLAYEQAESD | IMKRQPRNPK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TDKLVNERLI | SMAYGQIGMI | QALGGFFTYF | VILAENGFLP | IHLLGLRVDW | DDRWINDVED |
| 910 | 920 | 930 | 940 | 950 | 960 |
| SYGQQWTYEQ | RKIVEFTCHT | AFFVSIVVVQ | WADLVICKTR | RNSVFQQGMK | NKILIFGLFE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ETALAAFLSY | CPGMGVALRM | YPLKPTWWFC | AFPYSLLIFV | YDEVRKLIIR | RRPGGWVEKE |
| TYY |