Q8NHP6
Gene name |
MOSPD2 |
Protein name |
Motile sperm domain-containing protein 2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:158747 |
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
4 structures for Q8NHP6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6TQS | X-ray | 225 A | A/B/C/D/E/F | 282-490 | PDB |
| 6TQT | X-ray | 150 A | A | 282-490 | PDB |
| 6TQU | X-ray | 240 A | A/B | 315-445 | PDB |
| AF-Q8NHP6-F1 | Predicted | AlphaFoldDB |
213 variants for Q8NHP6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412445528 rs1158167728 |
3 | E>Q | No |
ClinGen gnomAD |
|
|
CA412445549 rs1471203802 |
4 | N>Y | No |
ClinGen gnomAD |
|
|
rs780598216 CA10353270 |
5 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424800473 CA412445564 |
6 | A>S | No |
ClinGen gnomAD |
|
|
CA412445572 rs1468399379 |
7 | Q>R | No |
ClinGen gnomAD |
|
|
rs1221540390 CA412445580 |
8 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs747306358 CA10353271 |
11 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA412445598 rs1174053875 |
11 | K>Q | No |
ClinGen gnomAD |
|
|
rs1322759303 CA412445603 |
11 | K>R | No |
ClinGen TOPMed |
|
|
rs1288703409 CA412445622 |
14 | S>C | No |
ClinGen TOPMed |
|
|
CA10353272 rs769255922 |
22 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA412445678 rs1328105316 |
23 | E>K | No |
ClinGen gnomAD |
|
|
rs747760686 CA10353274 |
26 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs755293601 CA10353289 |
28 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10353291 rs375563130 |
34 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375563130 CA10353292 |
34 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10353293 COSM1116741 rs145214899 |
35 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748763207 CA10353294 |
35 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10353295 rs147627753 |
42 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA327065636 rs3174450 |
45 | N>K | No |
ClinGen Ensembl |
|
|
rs1292225834 CA412435321 |
45 | N>S | No |
ClinGen TOPMed |
|
|
rs1436222825 CA412435333 |
47 | V>I | No |
ClinGen TOPMed |
|
|
CA412435344 rs1318305263 |
48 | E>G | No |
ClinGen gnomAD |
|
|
CA412435351 rs1355537127 |
49 | S>T | No |
ClinGen TOPMed |
|
|
CA412435377 rs1436651521 |
53 | W>G | No |
ClinGen Ensembl |
|
|
CA412435387 rs1477616051 |
54 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10353296 rs773858437 |
55 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 62 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412435454 rs1428106435 |
63 | K>N | No |
ClinGen TOPMed |
|
|
CA327065637 rs907801894 |
64 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10353298 rs771780826 |
66 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775308720 CA10353299 |
67 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA327065638 rs142229431 |
75 | I>M | No |
ClinGen ESP |
|
| TCGA novel | 75 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371878524 CA10353301 |
76 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756650603 CA10353309 |
81 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146163894 CA327065794 |
91 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1396043047 CA412435742 |
92 | I>M | No |
ClinGen TOPMed |
|
|
CA412435770 rs1442700764 |
95 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs770339586 CA10353312 |
97 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10353313 rs746588950 |
98 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1383182994 CA412435862 |
103 | E>A | No |
ClinGen gnomAD |
|
|
CA327065796 rs371329982 |
106 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 107 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 109 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10353326 rs753107625 |
111 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA412436319 rs1176223996 |
113 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327065899 rs930032726 |
122 | I>L | No |
ClinGen Ensembl |
|
|
CA327065900 rs1056458554 |
122 | I>T | No |
ClinGen Ensembl |
|
|
CA412436494 rs1337969791 |
125 | K>T | No |
ClinGen gnomAD |
|
|
rs778315491 CA10353328 |
129 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327065901 rs896668101 |
130 | A>T | No |
ClinGen Ensembl |
|
|
rs908131981 CA327065902 |
130 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1333522487 CA412436568 |
132 | W>R | No |
ClinGen TOPMed |
|
|
CA10353329 rs754359723 |
136 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10353330 rs373192139 |
144 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10353331 rs778320150 |
144 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA412436694 rs1331575756 |
145 | V>L | No |
ClinGen gnomAD |
|
|
CA10353332 rs745355830 |
154 | T>S | No |
ClinGen ExAC |
|
|
rs1468508961 CA412436781 |
158 | S>G | No |
ClinGen TOPMed |
|
|
CA412436787 rs1277502925 |
158 | S>R | No |
ClinGen gnomAD |
|
|
rs767688089 CA10353343 |
165 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1263277769 CA412437033 |
165 | R>H | No |
ClinGen TOPMed |
|
|
CA10353344 rs775680398 |
168 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1281625900 CA412437117 |
172 | K>N | No |
ClinGen gnomAD |
|
|
rs774292970 CA327066248 |
181 | K>N | No |
ClinGen TOPMed |
|
|
CA10353361 rs769665676 |
183 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 184 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1018809258 CA327066249 |
185 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 186 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10353362 rs184946599 |
187 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| TCGA novel | 188 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10353364 rs772139976 |
192 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1233375767 CA412437434 |
193 | A>T | No |
ClinGen TOPMed |
|
|
rs1485103067 CA412438094 |
196 | K>R | No |
ClinGen gnomAD |
|
|
CA10353371 rs765732670 |
201 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs999972979 CA327066642 |
202 | L>F | No |
ClinGen Ensembl |
|
|
rs758774781 CA10353373 |
214 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA412438313 rs1602037662 |
216 | N>D | No |
ClinGen Ensembl |
|
|
rs766009045 CA10353374 |
216 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 217 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 219 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754716748 CA10353376 |
220 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1343605272 CA412438400 |
223 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1343605272 CA412438398 |
223 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs752489544 CA10353378 |
223 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA327066660 rs143673501 |
226 | Y>H | No |
ClinGen ESP gnomAD |
|
|
CA412438454 rs1258882715 |
228 | P>L | No |
ClinGen TOPMed |
|
|
CA10353380 rs777360876 |
230 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA10353381 rs746053684 |
232 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs370427075 CA327066662 |
234 | T>N | No |
ClinGen Ensembl |
|
|
CA327066830 rs975603419 |
236 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 237 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35164803 VAR_034109 CA10353393 |
240 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 240 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10353395 rs752396113 |
245 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA327066831 rs370959017 |
245 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA412438726 rs370959017 |
245 | V>L | No |
ClinGen ESP TOPMed |
|
|
rs1275723913 CA412438805 |
251 | T>S | No |
ClinGen gnomAD |
|
|
rs1569106135 CA412438882 |
258 | P>R | No |
ClinGen Ensembl |
|
|
rs1370802848 CA412438885 |
259 | I>V | No |
ClinGen gnomAD |
|
|
CA412438918 rs777657462 |
262 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10353397 rs777657462 |
262 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 271 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772728487 CA327066832 |
272 | E>A | No |
ClinGen Ensembl |
|
|
rs1323315172 CA412439054 |
273 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1323315172 CA412439053 |
273 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 277 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1443465490 CA412439130 |
279 | L>S | No |
ClinGen gnomAD |
|
|
CA412439135 rs1385341760 |
280 | E>K | No |
ClinGen TOPMed |
|
|
rs757238717 CA10353399 |
287 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs377500177 CA412439236 |
288 | T>I | No |
ClinGen gnomAD |
|
|
CA327066833 rs377500177 |
288 | T>K | No |
ClinGen gnomAD |
|
|
rs778812199 CA10353400 |
289 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439661540 CA412439893 COSM1116744 |
298 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10353414 rs760049672 |
299 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs760049672 CA10353413 |
299 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1382386431 CA412439962 |
303 | A>E | No |
ClinGen TOPMed |
|
|
rs752096955 CA10353415 |
303 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1602039826 CA412439995 |
305 | E>D | No |
ClinGen Ensembl |
|
|
CA412440013 rs1373265166 |
307 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 310 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478195809 CA412440079 |
311 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs905836720 CA327066867 |
315 | A>S | No |
ClinGen TOPMed |
|
|
rs145104885 CA327066868 |
319 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145104885 CA10353419 |
319 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs982032203 CA327066869 |
321 | S>N | No |
ClinGen Ensembl |
|
|
CA10353421 rs368007476 |
322 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 325 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758285034 CA10353422 |
329 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs867674887 CA327066982 |
332 | P>Q | No |
ClinGen Ensembl |
|
|
CA10353435 rs41297321 |
340 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10353434 rs41297321 |
340 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199908168 CA327066983 |
341 | T>A | No |
ClinGen Ensembl |
|
|
CA10353437 rs765041573 |
344 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164665484 CA412440646 |
348 | T>I | No |
ClinGen gnomAD |
|
|
CA10353438 rs750180336 |
351 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs369620205 CA327067060 |
366 | T>I | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 378 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 381 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172864310 CA412440981 |
382 | D>G | No |
ClinGen gnomAD |
|
|
rs766405868 CA10353461 |
383 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA412440989 rs766405868 |
383 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA327067062 rs1050358567 |
384 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1393417509 CA412440991 |
384 | G>R | No |
ClinGen TOPMed |
|
|
CA412441104 rs1413654251 |
400 | S>P | No |
ClinGen gnomAD |
|
|
CA327067078 rs968134247 |
401 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 403 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373087009 CA10353471 |
404 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412441134 rs1176124863 |
404 | R>H | No |
ClinGen gnomAD |
|
|
rs769168126 CA10353472 |
407 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10353473 rs780722199 |
408 | M>I | No |
ClinGen ExAC |
|
|
rs1468017402 CA412441177 |
410 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747633106 CA10353474 |
412 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA412441201 rs1287188596 |
412 | M>V | No |
ClinGen TOPMed |
|
|
rs1395867508 CA412441210 |
413 | E>K | No |
ClinGen gnomAD |
|
|
CA412441226 rs1389701540 |
415 | S>A | No |
ClinGen gnomAD |
|
|
CA10353475 rs769492399 |
415 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA412441224 rs1389701540 |
415 | S>T | No |
ClinGen gnomAD |
|
|
rs772846336 CA10353476 |
416 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10353477 rs762599533 |
417 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762599533 CA412441238 |
417 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA327067079 rs142203054 |
418 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10353478 rs764071636 |
420 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412441277 rs1212160046 |
424 | T>A | No |
ClinGen gnomAD |
|
|
CA327067080 rs935104308 |
424 | T>I | No |
ClinGen Ensembl |
|
|
CA412441329 rs1256477922 |
431 | P>A | No |
ClinGen gnomAD |
|
|
CA10353479 rs376188992 |
432 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10353481 rs767527870 |
433 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs759420459 CA10353480 |
433 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1472712274 CA412441368 |
436 | M>I | No |
ClinGen gnomAD |
|
|
CA412441381 rs1199218234 |
438 | H>R | No |
ClinGen gnomAD |
|
|
rs145446651 CA327067081 |
438 | H>Y | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA10353496 rs777872789 |
443 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10353495 rs777203055 |
443 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10353497 rs11797118 |
444 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759364943 CA10353499 |
449 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412441476 rs1261685821 |
450 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1192115262 CA412441475 |
450 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412441502 rs772206668 |
454 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA10353500 rs772206668 |
454 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412441503 rs772206668 |
454 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA412441525 CA327067229 rs979142049 |
457 | D>E | No |
ClinGen gnomAD |
|
|
CA10353502 rs771081569 |
458 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287374803 CA412441611 |
469 | D>G | No |
ClinGen TOPMed |
|
|
CA327067230 rs956150373 |
469 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1356878782 CA412441620 |
470 | I>M | No |
ClinGen TOPMed |
|
|
CA10353503 rs765430843 |
470 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569107911 CA412441661 |
475 | S>C | No |
ClinGen Ensembl |
|
|
CA10353516 rs745450327 |
476 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412441694 rs1434743046 |
480 | S>C | No |
ClinGen gnomAD |
|
|
rs1344390933 COSM1743803 CA412441705 |
481 | N>S | biliary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 482 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA327067287 rs906678814 |
490 | R>C | No |
ClinGen TOPMed |
|
|
CA10353518 rs186948760 |
490 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768684561 COSM3701811 CA10353520 |
492 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA412441789 rs1281917140 |
493 | W>R | No |
ClinGen gnomAD |
|
|
CA412441808 rs1380960859 |
494 | F>L | No |
ClinGen gnomAD |
|
|
CA10353521 rs760339015 |
494 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10353522 rs149352938 |
497 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753032101 CA10353523 |
503 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 504 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10353524 rs774637512 |
505 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs759696962 CA10353525 |
511 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA412442028 rs1208182877 |
511 | S>P | No |
ClinGen gnomAD |
|
|
rs905695161 CA327067288 |
513 | F>V | No |
ClinGen Ensembl |
|
|
rs1473128001 CA412442070 |
514 | Y>N | No |
ClinGen gnomAD |
No associated diseases with Q8NHP6
5 regional properties for Q8NHP6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | MoaA/NifB/PqqE, iron-sulphur binding, conserved site | 73 - 84 | IPR000385 |
| domain | Molybdopterin cofactor biosynthesis C (MoaC) domain | 490 - 625 | IPR002820 |
| domain | Elp3/MiaA/NifB-like, radical SAM core domain | 67 - 270 | IPR006638 |
| domain | Radical SAM | 56 - 380 | IPR007197 |
| domain | Molybdenum cofactor biosynthesis protein A-like, twitch domain | 239 - 373 | IPR010505 |
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| 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). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| endoplasmic reticulum-endosome membrane contact site | A contact site between the endoplasmic reticulum membrane and the endosome 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| organelle membrane contact site | A zone of apposition between the membranes of an organelle with another membrane, either another membrane of the same organelle, a membrane of another organelle, or the plasma membrane. Membrane contact sites (MCSs) are structured by bridging complexes. They are specialized for communication, including the efficient traffic of small molecules such as Ca2+ ions and lipids, as well as enzyme-substrate 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. |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| chemotaxis | The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). |
| positive regulation of monocyte chemotaxis | Any process that increases the frequency, rate, or extent of monocyte chemotaxis. |
| 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. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAENHAQNKA | KLISETRRRF | EAEYVTDKSD | KYDARDVERL | QQDDNWVESY | LSWRHNIVDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TLKMLDESFQ | WRKEISVNDL | NESSIPRWLL | EIGVIYLHGY | DKEGNKLFWI | RVKYHVKDQK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TILDKKKLIA | FWLERYAKRE | NGKPVTVMFD | LSETGINSID | MDFVRFIINC | FKVYYPKYLS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KIVIFDMPWL | MNAAFKIVKT | WLGPEAVSLL | KFTSKNEVQD | YVSVEYLPPH | MGGTDPFKYS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YPPLVDDDFQ | TPLCENGPIT | SEDETSSKED | IESDGKETLE | TISNEEQTPL | LKKINPTEST |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SKAEENEKVD | SKVKAFKKPL | SVFKGPLLHI | SPAEELYFGS | TESGEKKTLI | VLTNVTKNIV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AFKVRTTAPE | KYRVKPSNSS | CDPGASVDIV | VSPHGGLTVS | AQDRFLIMAA | EMEQSSGTGP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AELTQFWKEV | PRNKVMEHRL | RCHTVESSKP | NTLTLKDNAF | NMSDKTSEDI | CLQLSRLLES |
| 490 | 500 | 510 | |||
| NRKLEDQVQR | CIWFQQLLLS | LTMLLLAFVT | SFFYLLYS |