P22001
PR
Gene name |
KCNA3 (HGK5) |
Protein name |
Potassium voltage-gated channel subfamily A member 3 |
Names |
HGK5, HLK3, HPCN3, Voltage-gated K(+) channel HuKIII, Voltage-gated potassium channel subunit Kv1.3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3738 |
EC number |
|
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
9 structures for P22001
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4BGC | X-ray | 120 A | A | 104-204 | PDB |
| 7EJ1 | EM | 320 A | B/D/F/H | 1-575 | PDB |
| 7EJ2 | EM | 330 A | B/D/F/H | 1-575 | PDB |
| 7SSV | EM | 339 A | A/B/C/D | 1-575 | PDB |
| 7SSX | EM | 289 A | A/B/C/D | 1-575 | PDB |
| 7SSY | EM | 289 A | A/B/C/D | 1-575 | PDB |
| 7SSZ | EM | 325 A | A/B/C/D | 1-575 | PDB |
| 8DFL | EM | 325 A | A/B/C/D | 1-575 | PDB |
| AF-P22001-F1 | Predicted | AlphaFoldDB |
397 variants for P22001
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1001033 rs79231483 |
2 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341816213 rs1430995315 |
2 | D>Y | No |
ClinGen TOPMed |
|
|
rs991161076 CA29254161 |
3 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs991161076 CA341816205 |
3 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 4 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs938307946 CA341816183 |
6 | S>I | No |
ClinGen TOPMed |
|
|
rs938307946 CA29254159 |
6 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 10 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29254158 rs928941875 |
10 | S>P | No |
ClinGen Ensembl |
|
|
rs763208216 CA1001032 |
11 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1001030 rs765624468 |
13 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1001031 rs775784494 |
13 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341816127 rs775784494 |
13 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341816108 rs1231279535 |
14 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1001029 rs760254943 |
15 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1436739105 CA341816073 |
16 | A>V | No |
ClinGen gnomAD |
|
|
rs1248268465 CA341816071 |
17 | R>S | No |
ClinGen gnomAD |
|
|
rs556830043 CA1001028 |
18 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341816030 rs1570803309 |
19 | R>C | No |
ClinGen Ensembl |
|
|
rs771478145 CA1001027 |
20 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350314374 CA341815998 |
21 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 22 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29254155 rs965826219 |
23 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs774132250 CA1001025 |
24 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430829686 CA341815934 |
25 | R>C | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1001023 rs749265772 |
26 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1001021 rs769720543 |
27 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779923218 CA1001022 |
27 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA341815902 rs769720543 |
27 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1001020 rs746077607 |
29 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 30 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757254732 CA1001018 |
31 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757254732 CA341815854 |
31 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365608513 CA341815846 |
31 | G>V | No |
ClinGen TOPMed |
|
|
CA1001017 rs751713536 |
32 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1469148580 CA341815798 |
34 | T>A | No |
ClinGen gnomAD |
|
|
CA1001016 rs576455703 |
34 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs576455703 CA341815793 |
34 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1001014 rs753207729 |
37 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA341815742 rs1446968955 |
38 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1001013 rs765528871 |
39 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759958884 CA1001012 |
39 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs750044802 CA1001011 |
40 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 40 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1001010 rs767248249 |
41 | A>T | No |
ClinGen ExAC |
|
|
CA341815680 rs1279535879 |
42 | E>G | No |
ClinGen gnomAD |
|
|
CA341815667 rs1204804733 |
43 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341815671 rs1204804733 |
43 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs200057007 CA1001009 |
45 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773867332 CA1001008 |
45 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377451883 CA341815611 |
46 | G>D | No |
ClinGen gnomAD |
|
|
CA341815598 rs1229152168 |
47 | R>H | No |
ClinGen gnomAD |
|
|
CA1001004 rs533680315 |
48 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs745701092 CA1001001 |
50 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1341474261 CA341815555 |
50 | P>S | No |
ClinGen gnomAD |
|
|
CA1001000 rs781253056 |
51 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370216105 CA341815541 |
52 | D>E | No |
ClinGen TOPMed |
|
|
rs771139380 CA1000999 |
52 | D>Y | No |
ClinGen ExAC |
|
|
CA1000997 rs372489050 |
56 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs554420565 CA1000995 |
57 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1192268126 CA341815506 |
58 | G>E | No |
ClinGen gnomAD |
|
|
CA1000993 rs779435375 |
59 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA29254152 rs1055551264 |
60 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1334286760 CA341815494 |
60 | H>Y | No |
ClinGen gnomAD |
|
|
rs1239911418 CA341815486 |
61 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA341815487 rs1239911418 |
61 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1466025051 CA341815480 |
62 | L>R | No |
ClinGen TOPMed |
|
|
rs1380587238 CA341815477 |
63 | E>* | No |
ClinGen gnomAD |
|
|
rs1269960590 CA341815469 |
64 | P>S | No |
ClinGen gnomAD |
|
|
rs1570803080 CA341815452 |
66 | V>G | No |
ClinGen Ensembl |
|
|
CA1000991 rs755311629 |
67 | A>T | No |
ClinGen ExAC |
|
|
rs1429139663 CA341815447 |
67 | A>V | No |
ClinGen gnomAD |
|
|
CA29254149 rs538067203 |
68 | D>N | No |
ClinGen 1000Genomes |
|
|
CA29254148 rs533343837 |
72 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA341815372 rs533343837 |
72 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1000987 rs751180352 |
72 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341815351 rs762622845 |
73 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000985 rs762622845 |
73 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000986 rs539967729 |
73 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775540479 CA1000984 |
74 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1189487580 CA341815324 |
75 | Q>P | No |
ClinGen gnomAD |
|
|
rs1251190366 CA341815297 |
76 | G>A | No |
ClinGen gnomAD |
|
|
rs1468234300 CA341815312 |
76 | G>S | No |
ClinGen gnomAD |
|
|
rs1215694645 CA341815285 |
77 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341815262 rs1272924799 |
78 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs765319046 CA1000983 |
78 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs759572800 CA1000982 |
79 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770636316 CA1000980 |
80 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA29254145 rs984933551 |
81 | G>R | No |
ClinGen TOPMed |
|
|
rs747197717 CA1000979 |
82 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA341815221 rs1323295508 |
82 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA341815219 rs1323295508 |
82 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs547905371 CA29254143 |
84 | D>A | No |
ClinGen 1000Genomes |
|
|
rs953542275 CA29254144 |
84 | D>H | No |
ClinGen Ensembl |
|
|
rs922051996 CA29254142 |
85 | R>G | No |
ClinGen TOPMed |
|
|
rs1283153913 CA341815197 |
85 | R>L | No |
ClinGen TOPMed |
|
|
rs922051996 CA29254141 |
85 | R>S | No |
ClinGen TOPMed |
|
|
CA341815178 rs1007298126 |
87 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1007298126 CA29254140 |
87 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1239710718 CA341815147 |
88 | P>L | No |
ClinGen TOPMed |
|
|
CA1000977 rs773365944 |
88 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA341815138 rs1393570166 |
89 | L>P | No |
ClinGen gnomAD |
|
|
rs749760182 CA1000972 |
90 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1000973 rs749760182 |
90 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778985999 CA1000974 |
90 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000971 rs780404700 |
91 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210693289 CA341815087 |
93 | L>P | No |
ClinGen gnomAD |
|
|
CA341815069 rs966093995 |
94 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs966093995 CA29254139 |
94 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1180241834 CA341815084 |
94 | P>T | No |
ClinGen TOPMed |
|
|
rs756490755 CA1000970 |
95 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557759833 CA341815056 |
96 | A>T | No |
ClinGen Ensembl |
|
|
rs115821486 CA1000967 |
98 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763882202 CA1000968 |
98 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763882202 CA341815032 |
98 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1308581038 CA341815007 |
100 | D>H | No |
ClinGen TOPMed |
|
|
CA1000966 rs752209102 |
101 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA341814988 rs1351754498 |
101 | C>Y | No |
ClinGen TOPMed |
|
|
CA29254138 rs892052111 |
102 | C>G | No |
ClinGen TOPMed |
|
|
CA1000964 rs759452672 |
102 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs562216946 CA1000963 |
104 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1373795720 CA341814927 |
105 | R>G | No |
ClinGen gnomAD |
|
|
CA1000962 COSM1211401 rs766185334 |
105 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1278530364 CA341814887 |
107 | V>A | No |
ClinGen TOPMed |
|
|
CA341814855 rs1407314634 |
109 | N>S | No |
ClinGen gnomAD |
|
|
CA29254137 rs999502857 |
110 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs372789364 CA1000960 |
113 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1210530788 CA341814785 |
114 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs772231779 CA1000959 |
114 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs748401226 CA1000958 |
115 | F>L | No |
ClinGen ExAC |
|
|
rs1343643865 CA341814712 |
118 | Q>L | No |
ClinGen gnomAD |
|
|
CA341814677 rs1557759771 |
122 | L>F | No |
ClinGen Ensembl |
|
|
CA1000957 rs189882638 |
126 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768732207 CA1000956 |
127 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368781334 CA1000955 |
129 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1000954 rs780490235 |
131 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232510967 CA341814490 |
133 | P>R | No |
ClinGen TOPMed |
|
|
CA341814476 RCV000522003 rs1553187844 |
134 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1000951 rs202066814 |
135 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA29254133 rs202066814 |
135 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1157009521 CA341814433 |
137 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1157009521 CA341814434 |
137 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1458890964 CA341814415 |
138 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570802682 CA341814394 |
139 | Y>D | No |
ClinGen Ensembl |
|
|
rs752403166 CA1000949 |
139 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1382283551 CA341814356 |
142 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1000948 rs201051275 |
142 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341814355 rs1382283551 |
142 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 144 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341814245 rs1350078299 |
149 | F>L | No |
ClinGen TOPMed |
|
|
CA341814211 rs753811369 |
152 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1000945 rs753811369 |
152 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs757352644 CA29254131 |
153 | R>W | No |
ClinGen Ensembl |
|
|
CA1000943 rs760682602 |
155 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs767302571 CA341814116 |
157 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000940 rs761961824 |
159 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234028653 CA341814047 |
161 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1396459570 CA341814053 |
161 | Y>H | No |
ClinGen gnomAD |
|
|
CA341814027 rs1256857793 |
162 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA341814004 rs1361453507 |
163 | Y>C | No |
ClinGen gnomAD |
|
|
rs1484798868 CA341813977 |
165 | S>A | No |
ClinGen gnomAD |
|
|
rs776046460 CA1000936 |
166 | G>R | No |
ClinGen ExAC |
|
| TCGA novel | 167 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 167 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000935 rs770153742 |
167 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA29254130 rs1036453696 |
168 | R>C | No |
ClinGen Ensembl |
|
| TCGA novel | 170 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341813923 rs1389429661 |
174 | N>S | No |
ClinGen gnomAD |
|
|
rs781637999 CA1000933 |
177 | I>M | No |
ClinGen ExAC |
|
|
rs771436430 CA1000932 |
178 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1000930 rs778776863 |
182 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA341813860 rs1350538857 |
183 | E>D | No |
ClinGen Ensembl |
|
|
rs1355161432 CA341813850 |
185 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs940336945 CA29254129 |
185 | R>L | No |
ClinGen Ensembl |
|
|
CA1000929 rs754481011 |
186 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000928 rs753237461 |
189 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs779644212 CA1000927 |
191 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341813797 rs1248084995 |
193 | A>S | No |
ClinGen gnomAD |
|
|
rs887829249 CA29254128 |
194 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341813760 rs1570802511 |
198 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 200 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 203 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199864361 CA1000923 |
203 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA29254127 rs909473657 |
204 | L>V | No |
ClinGen gnomAD |
|
|
CA1000920 rs375084188 |
205 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764269530 CA1000921 |
205 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1049290141 CA29254126 |
207 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775396919 CA1000919 |
207 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA29254125 rs1049061732 |
208 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs769925298 CA341813681 |
210 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1000918 rs769925298 |
210 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450930802 CA341813677 |
211 | L>F | No |
ClinGen gnomAD |
|
|
rs760063771 CA1000917 |
211 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1000916 rs777336728 |
211 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1189040017 CA341813668 |
213 | R>G | No |
ClinGen TOPMed |
|
|
CA1000915 rs771419846 |
213 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000913 rs145190352 |
214 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1000912 rs768152580 |
215 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341813632 CA341813634 rs1272194613 |
216 | F>L | No |
ClinGen gnomAD |
|
|
rs748973460 CA1000911 |
216 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779373280 CA1000910 |
217 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1570802412 CA341813584 |
219 | Q>L | No |
ClinGen Ensembl |
|
|
CA341813572 rs1420565188 |
220 | V>L | No |
ClinGen gnomAD |
|
|
CA1000908 rs750352093 |
223 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA29254124 rs924013452 |
224 | F>V | No |
ClinGen Ensembl |
|
|
CA341813466 rs1570802385 |
226 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 228 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000906 rs757021867 |
229 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1302122606 CA341813388 |
231 | G>R | No |
ClinGen gnomAD |
|
|
rs1321726391 CA341813371 |
232 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763983910 CA1000904 |
232 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341813320 rs1357057125 |
235 | G>A | No |
ClinGen TOPMed |
|
|
CA29254122 rs1021586713 |
235 | G>R | No |
ClinGen TOPMed |
|
|
rs1021586713 CA29254123 |
235 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1011487585 CA29254121 |
238 | I>V | No |
ClinGen TOPMed |
|
|
CA29254120 rs958552497 |
246 | I>M | No |
ClinGen Ensembl |
|
|
rs752982315 CA1000902 |
246 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 247 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172651962 CA341813130 |
249 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1000900 rs759757815 |
251 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs900323259 CA29254119 |
253 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 255 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000898 rs767043453 |
256 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000897 rs761293117 |
257 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773380278 CA1000896 |
258 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341813017 rs1570802281 |
259 | F>V | No |
ClinGen Ensembl |
|
|
rs748878390 CA1000894 |
260 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1002682725 CA29254118 |
260 | R>H | No |
ClinGen Ensembl |
|
|
rs775275843 CA1000893 |
261 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1238509684 CA341812977 |
262 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341812911 rs1290769977 |
264 | D>G | No |
ClinGen gnomAD |
|
|
rs745428456 CA1000891 |
265 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA341812858 rs1355260892 |
266 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA341812860 rs1355260892 |
266 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA341812834 rs1160951162 |
267 | A>S | No |
ClinGen TOPMed |
|
|
rs780699829 CA1000890 |
267 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA341812792 rs1403991905 |
268 | S>L | No |
ClinGen gnomAD |
|
|
rs1412387941 CA341812807 |
268 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | T>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341812769 rs1452444873 |
269 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341812778 rs1570802210 |
269 | T>P | No |
ClinGen Ensembl |
|
|
rs746957658 CA1000888 |
270 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs777377369 CA1000887 |
272 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA29254116 rs1022017672 |
274 | F>L | No |
ClinGen TOPMed |
|
|
CA1000886 rs758272293 |
275 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758272293 CA29254115 |
275 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752859353 CA1000885 |
276 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204573283 CA341812567 |
278 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 280 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs537630146 CA1000881 |
282 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150781963 CA1000880 |
283 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341812420 rs1270288086 |
284 | S>A | No |
ClinGen TOPMed |
|
|
rs543492829 COSM2118862 CA29254114 |
285 | R>C | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs543492829 CA1000879 |
285 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341812402 rs543492829 |
285 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334422448 CA341812366 |
286 | A>S | No |
ClinGen gnomAD |
|
|
CA341812344 rs1385765960 COSM1747622 |
287 | G>E | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA29254113 rs887429336 |
287 | G>R | No |
ClinGen gnomAD |
|
|
rs1279232807 CA341812291 |
290 | S>T | No |
ClinGen TOPMed |
|
|
rs1208717556 CA341812132 |
295 | F>L | No |
ClinGen gnomAD |
|
|
rs1417165602 CA341812092 |
296 | F>L | No |
ClinGen gnomAD |
|
|
rs370786888 CA1000875 |
297 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1255220 CA341812078 rs370786888 |
297 | V>M | pancreas oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1000873 rs776056170 |
301 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1192787981 CA341810843 |
302 | C>F | No |
ClinGen gnomAD |
|
|
rs200371776 CA29254112 |
304 | I>F | No |
ClinGen TOPMed |
|
|
CA1000872 rs770445307 |
305 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 305 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341810674 rs1209513209 |
314 | F>C | No |
ClinGen gnomAD |
|
|
CA1000870 rs368270224 |
316 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341810653 rs368270224 |
316 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748026693 CA1000868 |
325 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 330 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932253596 CA29254110 |
330 | L>V | No |
ClinGen Ensembl |
|
|
rs1227180865 CA341810393 |
334 | V>A | No |
ClinGen gnomAD |
|
|
CA1000867 rs778597834 |
334 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA341810382 rs1435199552 |
335 | A>D | No |
ClinGen gnomAD |
|
|
rs1321970152 CA341810388 |
335 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1000865 rs754124383 |
336 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406838081 CA341810134 |
346 | E>D | No |
ClinGen gnomAD |
|
|
COSM1332623 CA341810145 rs1416709252 |
346 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA341810049 rs1570802006 |
350 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 351 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 354 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768115284 CA1000861 |
358 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 359 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354825495 CA341809835 |
362 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 380 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA29254103 rs745764870 |
381 | S>F | No |
ClinGen Ensembl |
|
|
rs770423196 CA1000855 |
393 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897802620 CA29254102 |
398 | L>R | No |
ClinGen TOPMed |
|
|
CA341809061 rs1372588693 |
402 | I>L | No |
ClinGen gnomAD |
|
|
CA341808944 rs1570801891 |
408 | G>W | No |
ClinGen Ensembl |
|
|
CA341808847 rs1193046553 |
412 | F>L | No |
ClinGen gnomAD |
|
|
rs1418215322 CA341808811 |
415 | A>T | No |
ClinGen TOPMed |
|
|
rs1232817221 CA341808785 |
416 | V>F | No |
ClinGen gnomAD |
|
|
rs1276286143 CA341808727 |
419 | A>G | No |
ClinGen gnomAD |
|
|
CA341808703 rs1311302959 |
421 | A>T | No |
ClinGen gnomAD |
|
|
CA341808668 rs1172270478 |
422 | D>E | No |
ClinGen TOPMed |
|
|
rs757718532 CA1000844 |
424 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757718532 COSM249160 CA1000843 |
424 | P>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 435 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs985966262 CA29254099 |
437 | W>C | No |
ClinGen TOPMed |
|
| TCGA novel | 437 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763379363 CA1000840 |
438 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA341808372 rs1178247805 |
441 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772741157 CA1000836 COSM893708 |
449 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
| TCGA novel | 456 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341808148 rs1302563796 |
457 | G>D | No |
ClinGen TOPMed |
|
|
CA341808118 rs1478716229 |
459 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 460 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341808088 rs1570801735 |
461 | G>E | No |
ClinGen Ensembl |
|
|
CA341808095 rs1342836348 |
461 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA29254098 rs981687790 |
463 | L>F | No |
ClinGen Ensembl |
|
|
CA1000833 rs774495856 |
463 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 466 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209994561 CA341807879 |
484 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 486 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394972270 CA341807810 |
494 | E>K | No |
ClinGen TOPMed |
|
|
rs1004568038 CA29254095 |
497 | S>T | No |
ClinGen Ensembl |
|
|
CA341807760 rs1450707712 |
500 | M>T | No |
ClinGen TOPMed |
|
|
CA341807764 rs1448804982 |
500 | M>V | No |
ClinGen gnomAD |
|
|
CA341807743 rs1318678853 |
502 | V>G | No |
ClinGen gnomAD |
|
|
rs1212096331 CA341807747 |
502 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778296995 CA1000824 |
503 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs35154586 CA29254094 |
506 | Q>* | No |
ClinGen Ensembl |
|
|
rs1461577022 CA341807704 |
508 | L>F | No |
ClinGen TOPMed |
|
|
CA341807701 rs1294293748 |
508 | L>R | No |
ClinGen TOPMed |
|
|
CA341807689 rs1456820526 |
510 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 510 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1000820 rs755732546 |
513 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1211400 CA341807654 rs1258043461 |
516 | R>* | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 516 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767045896 CA1000818 |
518 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA341807637 rs1206352010 |
519 | R>G | No |
ClinGen gnomAD |
|
|
rs1466145187 CA341807631 |
519 | R>S | No |
ClinGen gnomAD |
|
|
TCGA novel rs41281374 CA1000817 |
521 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
CA1000815 rs764074157 |
523 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1000814 rs763013710 |
524 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1229081460 CA341807565 |
525 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138887050 CA1000812 |
526 | K>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs775356636 CA1000813 |
526 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 527 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746090912 CA1000811 |
530 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs776785948 CA1000810 |
531 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA29254093 rs779056951 |
531 | V>L | No |
ClinGen TOPMed |
|
|
rs779056951 CA341807451 |
531 | V>M | No |
ClinGen TOPMed |
|
|
rs758865322 CA1000806 |
535 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000807 rs758865322 |
535 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000808 rs747145696 CA1000809 |
535 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1000802 rs199848826 |
536 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199848826 CA1000803 |
536 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1000804 rs568444948 |
536 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199848826 CA1000801 |
536 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763699947 CA1000798 |
537 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751072580 CA1000799 |
537 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751072580 CA1000800 |
537 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341807345 rs1444857621 |
537 | M>V | No |
ClinGen gnomAD |
|
|
CA1000797 rs762924096 |
538 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341807327 rs1262297747 |
539 | H>N | No |
ClinGen gnomAD |
|
|
rs775628549 CA1000796 |
539 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1570801457 CA341807319 |
540 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 544 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145738982 CA1000794 |
546 | P>A | No |
ClinGen ESP ExAC |
|
|
rs753131399 CA1000793 COSM1581098 |
551 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1000792 rs771014106 |
552 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 552 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341807168 rs1300736646 |
553 | T>I | No |
ClinGen gnomAD |
|
|
rs946802393 CA29254089 |
554 | A>T | No |
ClinGen gnomAD |
|
|
CA341807138 rs1370440775 |
558 | T>R | No |
ClinGen gnomAD |
|
|
CA341807125 rs1294414661 |
560 | N>T | No |
ClinGen gnomAD |
|
|
CA1000791 rs747266463 |
561 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1557758831 CA341807106 |
563 | N>D | No |
ClinGen Ensembl |
|
|
CA29254087 rs915300937 |
565 | C>S | No |
ClinGen Ensembl |
|
|
rs990829035 CA29254086 |
567 | N>S | No |
ClinGen Ensembl |
|
|
rs773212851 CA1000790 |
568 | I>N | No |
ClinGen ExAC gnomAD |
|
|
COSM275633 CA29254085 rs770835476 |
570 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA341807055 rs1403674668 |
570 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1389021175 CA341807052 |
571 | I>L | No |
ClinGen TOPMed |
|
|
CA29254084 rs994008309 |
571 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA341807037 rs1286996982 |
573 | T>A | No |
ClinGen TOPMed |
|
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rs868826912 CA29254083 |
573 | T>I | No |
ClinGen Ensembl |
|
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rs748646757 CA1000788 |
574 | D>E | No |
ClinGen ExAC gnomAD |
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CA341807031 rs1361244688 |
574 | D>H | No |
ClinGen TOPMed |
No associated diseases with P22001
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| calyx of Held | The terminal specialization of a calyciferous axon which forms large synapses in the mammalian auditory central nervous system. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| 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. |
| integral component of postsynaptic membrane | The component of the postsynaptic 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. |
| integral component of presynaptic membrane | The component of the presynaptic 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. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| voltage-gated potassium channel complex | A protein complex that forms a transmembrane channel through which potassium ions may cross a cell membrane in response to changes in membrane potential. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| delayed rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by a delayed rectifying voltage-gated channel. A delayed rectifying current-voltage relation is one where channel activation kinetics are time-dependent, and inactivation is slow. |
| outward rectifier potassium channel activity | Enables the transmembrane transfer of a potassium ion by an outwardly-rectifying voltage-gated channel. An outwardly rectifying current-voltage relation is one where at any given driving force the outward flow of K+ ions exceeds the inward flow for the opposite driving force. |
| voltage-gated ion channel activity | Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
| voltage-gated potassium channel activity | Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| potassium ion transmembrane transport | A process in which a potassium ion is transported from one side of a membrane to the other. |
| potassium ion transport | The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein homooligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of ion transmembrane transport | Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q05037 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Bos taurus (Bovine) | PR |
| Q7T199 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Gallus gallus (Chicken) | PR |
| P22459 | KCNA4 | Potassium voltage-gated channel subfamily A member 4 | Homo sapiens (Human) | PR |
| Q09470 | KCNA1 | Potassium voltage-gated channel subfamily A member 1 | Homo sapiens (Human) | PR |
| Q16322 | KCNA10 | Potassium voltage-gated channel subfamily A member 10 | Homo sapiens (Human) | PR |
| Q96RP8 | KCNA7 | Potassium voltage-gated channel subfamily A member 7 | Homo sapiens (Human) | PR |
| Q9ULS6 | KCNS2 | Potassium voltage-gated channel subfamily S member 2 | Homo sapiens (Human) | PR |
| Q9H3M0 | KCNF1 | Potassium voltage-gated channel subfamily F member 1 | Homo sapiens (Human) | PR |
| Q14721 | KCNB1 | Potassium voltage-gated channel subfamily B member 1 | Homo sapiens (Human) | PR |
| Q8TDN2 | KCNV2 | Potassium voltage-gated channel subfamily V member 2 | Homo sapiens (Human) | PR |
| Q92953 | KCNB2 | Potassium voltage-gated channel subfamily B member 2 | Homo sapiens (Human) | PR |
| P16389 | KCNA2 | Potassium voltage-gated channel subfamily A member 2 | Homo sapiens (Human) | PR |
| Q9UK17 | KCND3 | Potassium voltage-gated channel subfamily D member 3 | Homo sapiens (Human) | PR |
| Q03721 | KCNC4 | Potassium voltage-gated channel subfamily C member 4 | Homo sapiens (Human) | PR |
| Q61423 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Mus musculus (Mouse) | PR |
| P16388 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Mus musculus (Mouse) | PR |
| Q17ST2 | Kcna7 | Potassium voltage-gated channel subfamily A member 7 | Mus musculus (Mouse) | PR |
| P16390 | Kcna3 | Potassium voltage-gated channel subfamily A member 3 | Mus musculus (Mouse) | PR |
| P15385 | Kcna4 | Potassium voltage-gated channel subfamily A member 4 | Rattus norvegicus (Rat) | PR |
| P10499 | Kcna1 | Potassium voltage-gated channel subfamily A member 1 | Rattus norvegicus (Rat) | PR |
| P63142 | Kcna2 | Potassium voltage-gated channel subfamily A member 2 | Rattus norvegicus (Rat) | PR |
| P15384 | Kcna3 | Potassium voltage-gated channel subfamily A member 3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDERLSLLRS | PPPPSARHRA | HPPQRPASSG | GAHTLVNHGY | AEPAAGRELP | PDMTVVPGDH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLEPEVADGG | GAPPQGGCGG | GGCDRYEPLP | PSLPAAGEQD | CCGERVVINI | SGLRFETQLK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TLCQFPETLL | GDPKRRMRYF | DPLRNEYFFD | RNRPSFDAIL | YYYQSGGRIR | RPVNVPIDIF |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SEEIRFYQLG | EEAMEKFRED | EGFLREEERP | LPRRDFQRQV | WLLFEYPESS | GPARGIAIVS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VLVILISIVI | FCLETLPEFR | DEKDYPASTS | QDSFEAAGNS | TSGSRAGASS | FSDPFFVVET |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LCIIWFSFEL | LVRFFACPSK | ATFSRNIMNL | IDIVAIIPYF | ITLGTELAER | QGNGQQAMSL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AILRVIRLVR | VFRIFKLSRH | SKGLQILGQT | LKASMRELGL | LIFFLFIGVI | LFSSAVYFAE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ADDPTSGFSS | IPDAFWWAVV | TMTTVGYGDM | HPVTIGGKIV | GSLCAIAGVL | TIALPVPVIV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SNFNYFYHRE | TEGEEQSQYM | HVGSCQHLSS | SAEELRKARS | NSTLSKSEYM | VIEEGGMNHS |
| 550 | 560 | 570 | |||
| AFPQTPFKTG | NSTATCTTNN | NPNSCVNIKK | IFTDV |