Q8NE86
PR
Gene name |
MCU |
Protein name |
Calcium uniporter protein, mitochondrial |
Names |
HsMCU, Coiled-coil domain-containing protein 109A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:90550 |
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
18 structures for Q8NE86
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4XSJ | X-ray | 180 A | A | 75-165 | PDB |
| 4XTB | X-ray | 150 A | A | 75-185 | PDB |
| 5BZ6 | X-ray | 275 A | A | 75-165 | PDB |
| 5KUE | X-ray | 150 A | A | 72-189 | PDB |
| 5KUG | X-ray | 190 A | A | 72-189 | PDB |
| 5KUI | X-ray | 270 A | A | 72-189 | PDB |
| 5KUJ | X-ray | 160 A | A | 72-189 | PDB |
| 6JG0 | X-ray | 250 A | A | 75-165 | PDB |
| 6K7X | EM | 327 A | A/B/C/D/K/L/M/N | 73-348 | PDB |
| 6K7Y | EM | 360 A | A/B/C/D/N/O/P/Q | 73-348 | PDB |
| 6KVX | X-ray | 285 A | A | 75-164 | PDB |
| 6O58 | EM | 380 A | A/C/E/G/I/K/M/O | 1-351 | PDB |
| 6O5B | EM | 360 A | A/C/E/G/I/J/K/L | 1-351 | PDB |
| 6WDN | EM | 320 A | C/E/G/I | 169-346 | PDB |
| 6WDO | EM | 360 A | PDB | ||
| 6XJV | EM | 417 A | A/C/E/G/I/K/M/O | 1-351 | PDB |
| 6XJX | EM | 460 A | A/C/E/G | 1-351 | PDB |
| AF-Q8NE86-F1 | Predicted | AlphaFoldDB |
200 variants for Q8NE86
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs200876844 CA209819718 |
2 | A>V | No |
ClinGen Ensembl |
|
|
CA377395686 rs1157141212 |
3 | A>T | No |
ClinGen TOPMed |
|
|
rs752062468 CA5550404 |
3 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258227346 CA377395699 |
4 | A>T | No |
ClinGen gnomAD |
|
|
rs1346333796 CA377395705 |
4 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5550408 rs755779031 |
5 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs770774614 CA5550411 |
7 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1283471449 CA377395747 |
7 | R>I | No |
ClinGen TOPMed |
|
|
rs772003872 CA5550415 |
8 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5550413 rs745829005 |
8 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA5550414 rs772003872 |
8 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5550417 rs549346778 |
9 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1200557010 CA377395772 |
9 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs773635204 CA5550418 |
10 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766693957 CA5550420 |
11 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA377395830 rs768011200 |
14 | S>F | No |
ClinGen ExAC TOPMed |
|
|
CA5550423 rs768011200 |
14 | S>Y | No |
ClinGen ExAC TOPMed |
|
|
rs1386112204 CA377395843 |
15 | S>F | No |
ClinGen TOPMed |
|
|
rs1386112204 CA377395840 |
15 | S>Y | No |
ClinGen TOPMed |
|
|
rs752210589 CA5550428 |
17 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166145944 CA377395879 |
18 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA377395917 rs1324755951 |
21 | G>E | No |
ClinGen gnomAD |
|
|
rs1403030668 CA377395930 |
22 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1403030668 CA377395934 |
22 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377395943 rs758278264 |
23 | A>G | No |
ClinGen ExAC TOPMed |
|
|
rs745625145 CA5550434 |
23 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5550435 rs758278264 |
23 | A>V | No |
ClinGen ExAC TOPMed |
|
|
CA5550436 rs535146713 |
24 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746936957 CA5550437 |
25 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA377395980 rs887998863 |
27 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA209819724 rs887998863 |
27 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA377396043 rs1169194874 |
32 | G>D | No |
ClinGen TOPMed |
|
|
rs749554193 CA5550440 |
32 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1320407832 CA377396052 |
33 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1320407832 CA377396050 |
33 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA377396100 rs1181460839 |
36 | G>V | No |
ClinGen TOPMed |
|
|
CA377396094 rs1564530122 |
36 | G>W | No |
ClinGen Ensembl |
|
|
CA377396123 rs1197916728 |
39 | V>I | No |
ClinGen TOPMed |
|
|
CA377396150 rs11543261 |
41 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA377396156 rs1272714885 |
41 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs565812664 CA5550441 |
43 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA209819726 rs547089939 |
43 | R>W | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1337870042 CA377396210 |
48 | H>Q | No |
ClinGen TOPMed |
|
|
rs989454813 CA209819727 |
50 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1462949167 CA377396600 |
53 | Q>E | No |
ClinGen gnomAD |
|
|
CA5550475 rs751350554 |
54 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA5550476 rs144550573 |
55 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781209829 CA5550477 |
55 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1467756654 CA377396626 |
56 | A>G | No |
ClinGen gnomAD |
|
|
rs546372976 CA5550478 |
56 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1229626950 CA377396646 |
58 | W>C | No |
ClinGen gnomAD |
|
|
rs570236574 CA5550480 |
59 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1228145750 CA377396694 |
64 | V>A | No |
ClinGen gnomAD |
|
|
rs1184730840 CA377396709 |
66 | C>R | No |
ClinGen Ensembl |
|
|
rs983828355 CA209835004 |
69 | V>F | No |
ClinGen gnomAD |
|
|
rs983828355 CA377396736 |
69 | V>I | No |
ClinGen gnomAD |
|
|
CA5550481 rs746146161 |
70 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747313540 CA5550484 |
72 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5550483 rs780415370 |
72 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs141730343 CA5550485 |
73 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141730343 CA5550486 COSM309894 |
73 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5550509 rs199975232 |
75 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA209536708 rs758942444 |
76 | T>R | No |
ClinGen TOPMed |
|
|
CA5550510 rs772792413 |
77 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1488982583 CA377166324 |
78 | V>A | No |
ClinGen TOPMed |
|
|
CA5550512 rs770561657 |
78 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220169389 CA377166326 |
79 | Y>N | No |
ClinGen gnomAD |
|
|
CA5550513 rs774206950 |
80 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759244096 CA5550514 |
85 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs767464150 CA5550515 |
87 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA377166792 rs1217519248 |
89 | R>T | No |
ClinGen gnomAD |
|
|
CA5550518 COSM539536 rs763876457 |
93 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM427864 CA5550517 rs760688867 |
93 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA209536772 rs376561381 |
94 | R>C | No |
ClinGen ESP |
|
|
rs1488163662 CA377166848 |
94 | R>H | No |
ClinGen gnomAD |
|
|
rs35527909 CA5550519 |
96 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM920215 rs778394330 CA5550520 |
96 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778394330 CA209536796 COSM1187962 |
96 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA209536806 rs930457715 |
97 | C>R | No |
ClinGen gnomAD |
|
|
rs766431129 CA5550521 |
98 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs984895307 CA209536814 |
100 | T>P | No |
ClinGen TOPMed |
|
|
rs371072084 CA5550523 |
104 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1358453130 CA377166997 |
105 | S>C | No |
ClinGen gnomAD |
|
|
rs1358453130 CA377166996 |
105 | S>F | No |
ClinGen gnomAD |
|
|
CA377167059 rs1465574341 |
110 | V>I | No |
ClinGen TOPMed |
|
|
COSM465936 CA377167073 rs1303731983 |
111 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1675334 rs756650021 CA5550526 |
113 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs374215875 CA5550527 |
113 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs542746241 CA5550530 |
120 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5550529 rs766035793 |
120 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5550531 rs745550134 |
123 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA377167276 rs1247131884 |
125 | V>A | No |
ClinGen gnomAD |
|
|
rs1292410533 CA377167292 |
127 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA377167333 rs1263503404 |
130 | P>A | No |
ClinGen TOPMed |
|
|
rs192472523 CA209537379 |
132 | G>S | No |
ClinGen 1000Genomes |
|
|
CA5550545 rs749854641 |
134 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757801517 CA5550547 |
134 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5550546 rs757801517 |
134 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs367568329 CA5550549 |
135 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377167986 rs1471677924 |
142 | D>G | No |
ClinGen gnomAD |
|
|
rs775069287 CA5550550 |
143 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761769622 CA5550556 |
152 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1336392087 CA377168099 |
153 | I>V | No |
ClinGen gnomAD |
|
|
rs1447723532 CA377168134 |
155 | D>E | No |
ClinGen gnomAD |
|
|
CA209537461 rs927534572 |
156 | L>F | No |
ClinGen Ensembl |
|
|
rs759602419 CA5550559 |
160 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298775633 CA377168195 |
161 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs146047894 CA5550560 |
161 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1255612155 CA377168204 |
162 | P>S | No |
ClinGen gnomAD |
|
|
CA377169874 rs377256530 |
170 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5550590 rs377256530 |
170 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA377169872 rs1331392304 |
170 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA377169919 rs1444050297 |
173 | A>P | No |
ClinGen gnomAD |
|
|
CA5550591 rs537793734 |
175 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140182415 CA209542762 |
175 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
rs1444899028 CA377169945 |
177 | N>S | No |
ClinGen TOPMed |
|
|
CA377169953 rs1236964336 |
178 | D>V | No |
ClinGen TOPMed |
|
|
rs1174988166 CA377169957 |
179 | V>I | No |
ClinGen TOPMed |
|
|
CA209542780 rs763412680 |
180 | K>T | No |
ClinGen Ensembl |
|
|
rs1000562490 CA209542782 |
181 | T>I | No |
ClinGen Ensembl |
|
|
rs754600073 CA5550596 |
182 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA377170011 rs1344930249 |
187 | Y>S | No |
ClinGen gnomAD |
|
|
rs749211583 CA209542814 |
190 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs749211583 CA5550601 |
190 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1257373368 CA377170032 |
191 | C>R | No |
ClinGen gnomAD |
|
|
rs201174780 CA209542821 |
192 | I>F | No |
ClinGen 1000Genomes |
|
|
CA377170092 rs1220523034 |
199 | K>Q | No |
ClinGen TOPMed |
|
|
rs1589505389 CA377170125 |
203 | L>F | No |
ClinGen Ensembl |
|
|
rs1425903115 CA377170133 |
204 | I>T | No |
ClinGen gnomAD |
|
|
rs761568643 CA5550602 |
207 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466559379 CA377170167 |
209 | D>V | No |
ClinGen gnomAD |
|
|
CA5550603 rs775442121 |
210 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5550604 rs760737128 |
211 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs766921426 CA209542841 |
216 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766921426 CA5550605 |
216 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377170254 rs1208204582 |
221 | R>* | No |
ClinGen gnomAD |
|
|
CA5550629 rs142910615 |
221 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 223 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA377170302 rs1488812664 |
228 | A>T | No |
ClinGen gnomAD |
|
|
rs1488225155 CA377170379 |
234 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM3686982 rs760003771 CA5550632 |
241 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA209544460 rs900835153 |
242 | Y>C | No |
ClinGen TOPMed |
|
|
CA5550635 rs755773326 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752151223 CA5550634 |
252 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377170690 rs1276526685 |
255 | W>C | No |
ClinGen Ensembl |
|
| TCGA novel | 256 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 261 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369816175 CA377170838 |
263 | M>R | No |
ClinGen gnomAD |
|
|
CA377170985 rs1564580442 |
271 | T>A | No |
ClinGen Ensembl |
|
|
CA377171041 rs1284256334 |
274 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA377171081 rs1231681688 |
275 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 277 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778553213 CA5550639 |
278 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 279 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5550640 rs745844298 |
280 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377171255 rs1564580469 |
284 | M>V | No |
ClinGen Ensembl |
|
|
COSM920218 CA5550642 rs781446206 |
286 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs781446206 CA377171294 |
286 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770146478 CA5550644 COSM168546 |
286 | R>H | large_intestine endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5550643 rs781446206 |
286 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA377173094 rs1449259545 |
289 | Y>C | No |
ClinGen gnomAD |
|
|
CA377173135 rs1256582050 |
292 | P>L | No |
ClinGen TOPMed |
|
|
rs1229105837 CA377173166 |
294 | A>T | No |
ClinGen TOPMed |
|
|
CA377173184 rs1286271587 |
294 | A>V | No |
ClinGen gnomAD |
|
|
CA377173450 rs1384896159 |
307 | A>T | No |
ClinGen TOPMed |
|
|
CA377173523 rs1317988628 |
309 | K>T | No |
ClinGen gnomAD |
|
|
CA5550668 rs536802096 |
311 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA209552626 rs888571889 |
311 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5550669 rs772417499 |
314 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5550671 rs772417499 |
314 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436822006 CA377173656 |
315 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1463705801 CA377173757 |
318 | N>S | No |
ClinGen TOPMed |
|
|
rs768256585 CA5550672 |
320 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1238926212 CA377173829 |
321 | K>R | No |
ClinGen gnomAD |
|
|
CA5550673 rs775967191 |
323 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5550675 rs764740935 |
324 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1219689105 CA377174648 |
329 | M>I | No |
ClinGen TOPMed |
|
|
rs372894893 CA5550690 |
329 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174525161 CA377174670 |
332 | K>R | No |
ClinGen gnomAD |
|
|
CA377174681 rs1393715504 |
334 | L>V | No |
ClinGen gnomAD |
|
|
rs772470131 CA5550691 |
335 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5550693 rs747587310 |
336 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs780368728 CA5550692 |
336 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA377174698 rs1238274650 |
337 | P>A | No |
ClinGen TOPMed |
|
|
CA209553497 rs907837299 |
344 | L>P | No |
ClinGen TOPMed |
|
|
rs913903735 CA209553499 |
345 | R>* | No |
ClinGen Ensembl |
|
|
CA5550695 rs374910594 |
345 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5550694 rs374910594 |
345 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5550696 rs747545765 |
346 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs769343948 CA5550697 |
346 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5550698 rs565943100 |
347 | I>T | No |
ClinGen ExAC |
|
|
CA5550699 rs762662111 |
349 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs905492305 CA209553561 |
350 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1164289583 CA377174786 |
351 | D>G | No |
ClinGen TOPMed |
|
|
CA377174783 rs766307644 |
351 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766307644 CA5550700 |
351 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142030206 CA377174790 |
352 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000952608 rs142030206 CA5550701 |
352 | D>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
No associated diseases with Q8NE86
1 regional properties for Q8NE86
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Calcium uniporter protein, C-terminal | 118 - 320 | IPR006769 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| calcium channel complex | An ion channel complex through which calcium ions pass. |
| integral component of mitochondrial inner membrane | The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| uniplex complex | A calcium channel complex in the mitochondrial inner membrane capable of highly-selective calcium channel activity. Its components include the EF-hand-containing proteins mitochondrial calcium uptake 1 (MICU1) and MICU2, the pore-forming subunit mitochondrial calcium uniporter (MCU) and its paralog MCUb, and the MCU regulator EMRE. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium channel activity | Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| identical protein binding | Binding to an identical protein or proteins. |
| uniporter activity | Catalysis of the transport of a single molecular species across a membrane; transport is independent of the movement of any other molecular species. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament reorganization | A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of actin filaments. |
| calcium import into the mitochondrion | A process in which a calcium ion (Ca2+) is transported from the cytosol into the mitochondrial matrix. |
| calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| mitochondrial calcium ion homeostasis | Any process involved in the maintenance of an internal steady state of calcium ions within the cytoplasm of a cell or between mitochondria and their surroundings. |
| mitochondrial calcium ion transmembrane transport | The process in which a calcium ion (Ca2+) is transported across a mitochondrial membrane, into or out of the mitochondrion. |
| positive regulation of insulin secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
| positive regulation of mitochondrial calcium ion concentration | Any process that increases the concentration of calcium ions in mitochondria. |
| positive regulation of mitochondrial fission | Any process that increases the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments. |
| positive regulation of neutrophil chemotaxis | Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. |
| protein complex oligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O64823 | At2g23790 | Calcium uniporter protein 2, mitochondrial | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4I111 | At1g09575 | Calcium uniporter protein 6, mitochondrial | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q08BI9 | mcu | Calcium uniporter protein, mitochondrial | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAGRSLL | LLLSSRGGGG | GGAGGCGALT | AGCFPGLGVS | RHRQQQHHRT | VHQRIASWQN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LGAVYCSTVV | PSDDVTVVYQ | NGLPVISVRL | PSRRERCQFT | LKPISDSVGV | FLRQLQEEDR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GIDRVAIYSP | DGVRVAASTG | IDLLLLDDFK | LVINDLTYHV | RPPKRDLLSH | ENAATLNDVK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TLVQQLYTTL | CIEQHQLNKE | RELIERLEDL | KEQLAPLEKV | RIEISRKAEK | RTTLVLWGGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AYMATQFGIL | ARLTWWEYSW | DIMEPVTYFI | TYGSAMAMYA | YFVMTRQEYV | YPEARDRQYL |
| 310 | 320 | 330 | 340 | 350 | |
| LFFHKGAKKS | RFDLEKYNQL | KDAIAQAEMD | LKRLRDPLQV | HLPLRQIGEK | D |