Q96D96
Gene name |
HVCN1 (VSOP, UNQ578/PRO1140) |
Protein name |
Voltage-gated hydrogen channel 1 |
Names |
Hydrogen voltage-gated channel 1, HV1, Voltage sensor domain-only protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84329 |
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
3 structures for Q96D96
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3A2A | X-ray | 200 A | A/B/C/D | 221-273 | PDB |
| 5OQK | NMR | - | A | 83-226 | PDB |
| AF-Q96D96-F1 | Predicted | AlphaFoldDB |
195 variants for Q96D96
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA386700956 rs1593525124 |
3 | T>S | No |
ClinGen Ensembl |
|
|
rs778792393 CA386700941 |
4 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs778792393 CA6787243 |
4 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1257410982 CA386700934 |
5 | D>A | No |
ClinGen TOPMed |
|
|
CA6787239 rs370561510 |
5 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6787241 rs559851829 |
5 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559851829 CA6787242 |
5 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6787237 rs766179586 |
6 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6787238 rs147424254 |
6 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243556408 rs147424254 |
6 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753375631 CA6787215 |
10 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6787214 rs552782188 |
11 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA386699737 rs552782188 |
11 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6787213 rs760337938 |
11 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243546626 rs760337938 |
11 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386699733 rs775297243 |
12 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs775297243 CA6787212 |
12 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1165810946 CA386699717 |
14 | K>N | No |
ClinGen TOPMed |
|
|
CA386699715 rs1357398824 |
15 | V>M | No |
ClinGen gnomAD |
|
|
rs1291512351 CA386699704 |
16 | A>V | No |
ClinGen gnomAD |
|
|
CA6787209 rs376751024 |
18 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771450218 CA6787208 |
20 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386699679 rs1463300804 COSM3739425 |
20 | R>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs749821428 CA6787207 |
21 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA386699673 rs1169810671 |
21 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA386699677 rs1352574295 |
21 | M>V | No |
ClinGen gnomAD |
|
|
CA243546589 rs925896693 |
23 | K>Q | No |
ClinGen TOPMed |
|
|
rs773231576 CA6787206 |
26 | R>K | No |
ClinGen ExAC TOPMed |
|
|
CA6787205 rs769864583 |
27 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386699630 rs1276577831 |
27 | H>R | No |
ClinGen TOPMed |
|
|
CA386699632 rs1185155371 |
27 | H>Y | No |
ClinGen gnomAD |
|
|
rs1219026855 CA386699620 |
28 | F>L | No |
ClinGen TOPMed |
|
|
CA386699616 rs1310338299 |
29 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1298488498 CA386699603 |
30 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1447326649 CA386699595 |
31 | V>A | No |
ClinGen gnomAD |
|
|
rs773321967 CA6787203 |
31 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243546553 COSM110403 rs150422240 |
32 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs147191036 CA6787201 |
34 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386699549 rs1171917956 |
35 | Y>C | No |
ClinGen TOPMed |
|
|
rs1337575370 CA386699539 |
36 | H>Y | No |
ClinGen gnomAD |
|
|
CA243546528 rs200828154 |
37 | A>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA6787200 rs149490522 |
37 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386699523 rs200828154 |
37 | A>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA243546521 rs890591558 |
38 | W>C | No |
ClinGen TOPMed |
|
|
CA386699495 rs1403486741 |
40 | I>V | No |
ClinGen TOPMed |
|
|
CA6787199 rs757178517 |
41 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243546504 rs201649099 |
42 | Y>D | No |
ClinGen 1000Genomes |
|
|
rs1566036747 CA386699476 |
42 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 43 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386699464 rs1334793107 |
43 | K>R | No |
ClinGen Ensembl |
|
|
CA386699442 rs1309371197 COSM1235762 CA386699443 |
45 | W>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA243546487 rs369937599 |
50 | E>G | No |
ClinGen gnomAD |
|
|
rs535442941 CA243546479 |
52 | E>A | No |
ClinGen 1000Genomes |
|
|
CA386699352 rs1296357060 |
52 | E>D | No |
ClinGen TOPMed |
|
|
rs755674445 CA6787196 |
55 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386699308 COSM1358738 rs1593458697 |
56 | Q>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1162768271 CA386699296 |
57 | P>L | No |
ClinGen gnomAD |
|
|
CA243546458 rs920878946 |
57 | P>S | No |
ClinGen TOPMed |
|
|
rs1363911971 CA386699274 |
59 | P>R | No |
ClinGen gnomAD |
|
|
CA386699253 rs1160783727 |
62 | V>I | No |
ClinGen gnomAD |
|
|
CA386699225 rs1346961747 |
64 | G>V | No |
ClinGen TOPMed |
|
|
rs150300148 CA243546426 |
65 | E>G | No |
ClinGen ESP |
|
|
CA243546429 rs948351485 |
65 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1261835158 CA386699199 |
67 | G>S | No |
ClinGen TOPMed |
|
|
CA243546407 rs992952103 |
68 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA386699185 rs992952103 |
68 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs149357113 CA6787188 |
69 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386699170 rs1351430284 |
70 | A>T | No |
ClinGen gnomAD |
|
|
rs549678316 CA243546391 |
71 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763379572 CA6787187 |
71 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs549678316 CA243546381 |
71 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773718534 CA6787186 |
72 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 73 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373795218 CA6787185 |
73 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776612383 CA6787183 |
74 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528631783 CA6787184 |
74 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1593458322 CA386699130 |
75 | A>S | No |
ClinGen Ensembl |
|
|
rs747218361 CA386699114 |
77 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747218361 CA6787181 |
77 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6787179 rs770864061 |
78 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA386699100 rs1420330213 |
80 | P>S | No |
ClinGen TOPMed |
|
|
CA6787177 rs777850110 |
81 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386019556 CA386699081 |
83 | R>M | No |
ClinGen TOPMed |
|
|
rs756162690 CA6787176 |
84 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756162690 CA386699074 |
84 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs775475972 | 87 | D>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243546302 rs200761884 |
88 | F>L | No |
ClinGen Ensembl |
|
|
rs140708722 CA6787172 |
91 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6787173 rs76006664 |
91 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386699032 rs1237833659 |
91 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 92 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA243546288 rs887246745 |
92 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386699018 rs1263318641 |
93 | R>K | No |
ClinGen TOPMed |
|
|
CA386698965 rs1349728820 |
98 | S>F | No |
ClinGen gnomAD |
|
|
CA6787169 rs763287906 |
99 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 103 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386698622 rs1274866297 |
103 | V>I | No |
ClinGen gnomAD |
|
|
CA386698615 rs1317210640 |
104 | I>V | No |
ClinGen gnomAD |
|
|
rs1273807510 CA386698605 |
105 | I>T | No |
ClinGen gnomAD |
|
|
rs1593440936 CA386698596 |
106 | I>M | No |
ClinGen Ensembl |
|
|
CA386698584 rs1442524335 |
108 | L>S | No |
ClinGen gnomAD |
|
|
rs1337831464 CA386698564 |
110 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs760665421 CA6787146 |
113 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1483876431 CA386698529 |
114 | L>F | No |
ClinGen gnomAD |
|
|
rs767823856 CA6787144 |
121 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA386698386 rs1159299472 |
128 | Q>H | No |
ClinGen gnomAD |
|
|
rs551332284 CA6787142 |
130 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs922421964 CA243542974 |
131 | K>N | No |
ClinGen Ensembl |
|
|
rs769713018 CA6787141 |
132 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs770009546 CA243542969 |
133 | N>K | No |
ClinGen Ensembl |
|
|
rs770183396 CA243542967 |
134 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6787140 rs770183396 |
134 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292177944 CA386698315 |
135 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA386698299 rs1284592263 |
137 | M>T | No |
ClinGen TOPMed |
|
|
rs1566025649 CA386697667 |
139 | F>L | No |
ClinGen Ensembl |
|
|
CA243540742 rs907385822 |
140 | H>Y | No |
ClinGen TOPMed |
|
|
CA6787114 rs374884864 |
142 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6787115 rs768457352 |
142 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA386697637 rs1435366457 |
143 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1270989095 CA386697615 |
146 | I>F | No |
ClinGen TOPMed |
|
|
CA386697599 rs1217281983 |
148 | V>A | No |
ClinGen TOPMed |
|
|
CA386697601 rs1324982417 |
148 | V>F | No |
ClinGen gnomAD |
|
|
rs1217894033 CA386697580 |
151 | M>V | No |
ClinGen gnomAD |
|
|
rs1212903988 CA386697509 |
160 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs749906449 CA243540709 |
162 | R>C | No |
ClinGen Ensembl |
|
|
CA243540704 rs146855907 |
162 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6787109 rs146855907 |
162 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6787105 rs149175563 |
176 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386697390 rs1187065754 |
177 | V>A | No |
ClinGen gnomAD |
|
|
rs781358524 CA6787104 COSM1358736 |
177 | V>M | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386697386 rs1478496147 |
178 | V>M | No |
ClinGen gnomAD |
|
|
rs369638051 CA6787103 |
179 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1408490466 CA386697373 |
180 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 181 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6787100 rs763287076 |
185 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6787101 rs754543385 |
185 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477174705 CA386697337 |
186 | I>V | No |
ClinGen gnomAD |
|
|
CA6787099 rs186695691 |
187 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6787097 rs760539481 |
188 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6787096 rs375663985 |
189 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772064093 CA6787095 |
192 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6787094 rs759014369 |
198 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386697215 rs1301354729 |
205 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 205 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6787092 rs770439659 |
205 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1464333610 CA386697204 |
207 | W>L | No |
ClinGen gnomAD |
|
|
CA243540602 rs933712812 COSM340944 |
208 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA386697199 rs748997855 COSM1358735 |
208 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs900179793 CA243540596 |
209 | V>G | No |
ClinGen Ensembl |
|
|
CA243540599 rs543818690 |
209 | V>M | No |
ClinGen Ensembl |
|
|
rs1169337878 CA386697185 |
211 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 212 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6787090 rs777929241 |
214 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279045754 CA386697121 |
219 | S>T | No |
ClinGen TOPMed |
|
|
CA386697094 rs1566023850 |
222 | T>I | No |
ClinGen Ensembl |
|
|
COSM935006 CA386697090 rs1485712777 |
223 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs145225388 CA6787075 |
223 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243540120 rs888235169 |
225 | E>G | No |
ClinGen TOPMed |
|
|
CA6787072 rs769403674 |
226 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM935005 rs772902585 CA6787074 |
226 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs367760167 CA6787070 |
229 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6787068 rs140550678 |
231 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6787067 rs576433568 |
234 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386696975 rs1242023221 |
234 | M>V | No |
ClinGen gnomAD |
|
|
rs1046366333 CA243540077 |
237 | Q>R | No |
ClinGen TOPMed |
|
|
rs140430554 CA6787066 |
238 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6787064 rs779165493 |
240 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6787062 rs752437553 |
242 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6787063 rs757522794 |
242 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs767328878 CA6787061 |
244 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554508796 CA243540046 COSM3810994 |
246 | E>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6787059 rs201313963 |
249 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766280407 CA6787058 |
249 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA386696797 rs1265967192 |
250 | S>C | No |
ClinGen gnomAD |
|
|
CA6787057 rs762524035 |
251 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA386696661 rs1458443579 |
254 | Q>K | No |
ClinGen TOPMed |
|
|
rs1397669558 CA386696658 |
254 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1339414592 CA386696651 |
255 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 256 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386696636 rs1334459478 |
257 | E>* | No |
ClinGen gnomAD |
|
|
rs1398106619 CA386696610 |
260 | N>K | No |
ClinGen gnomAD |
|
|
rs1566022192 CA386696613 |
260 | N>S | No |
ClinGen Ensembl |
|
|
CA6787038 rs749901454 |
261 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6787035 rs764873661 COSM935004 |
264 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs202004657 CA6787034 |
264 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753559656 CA6787033 |
265 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA386696582 rs1190575369 |
265 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA243539518 rs959478757 |
266 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA386696570 rs1253818992 |
267 | G>E | No |
ClinGen gnomAD |
|
|
CA6787032 rs763898292 |
269 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6787031 rs767677920 |
269 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386696554 rs1259966190 |
270 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6787030 rs775765211 |
271 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1230424233 CA386696529 |
274 | N>Q | No |
ClinGen TOPMed |
No associated diseases with Q96D96
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| 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 plasma membrane | The component of the plasma 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. |
| phagocytic vesicle membrane | The lipid bilayer surrounding a phagocytic vesicle. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| secretory granule membrane | The lipid bilayer surrounding a secretory granule. |
| specific granule membrane | The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| voltage-gated cation channel activity | Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. 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 proton channel activity | Enables the transmembrane transfer of a proton 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. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cell redox homeostasis | Any process that maintains the redox environment of a cell or compartment within a cell. |
| cellular response to pH | 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 pH stimulus. pH is a measure of the acidity or basicity of an aqueous solution. |
| cellular response to zinc ion | 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 zinc ion stimulus. |
| positive regulation of superoxide anion generation | Any process that activates or increases the frequency, rate or extent of enzymatic generation of superoxide by a cell. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| regulation of intracellular pH | Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| 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. |
| response to pH | 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 pH stimulus. pH is a measure of the acidity or basicity of an aqueous solution. |
| response to zinc ion | 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 zinc ion stimulus. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATWDEKAVT | RRAKVAPAER | MSKFLRHFTV | VGDDYHAWNI | NYKKWENEEE | EEEEEQPPPT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVSGEEGRAA | APDVAPAPGP | APRAPLDFRG | MLRKLFSSHR | FQVIIICLVV | LDALLVLAEL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ILDLKIIQPD | KNNYAAMVFH | YMSITILVFF | MMEIIFKLFV | FRLEFFHHKF | EILDAVVVVV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SFILDIVLLF | QEHQFEALGL | LILLRLWRVA | RIINGIIISV | KTRSERQLLR | LKQMNVQLAA |
| 250 | 260 | 270 | |||
| KIQHLEFSCS | EKEQEIERLN | KLLRQHGLLG | EVN |