P42768
EV
Gene name |
WAS (IMD2) |
Protein name |
Wiskott-Aldrich syndrome protein |
Names |
WASp |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7454 |
EC number |
|
Protein Class |
|
Descriptions
Members of the Wiskott-Aldrich syndrome protein (WASP) family link Rho GTPase signaling pathways to the cytoskeleton through a multiprotein assembly called Arp2/3 complex. The family includes WASP, the widely expressed neuronal-WASP (N-WASP), and several Scar/WAVE proteins. The C-terminal VCA regions (verprolin-homology, central hydrophobic, and acidic regions) of WASP and its relatives stimulate Arp2/3 complex to nucleate actin filament branches. In the autoinhibition model, the C (central) region of the VCA is sequestered by the Rho GTPase-binding Cdc42/Rac-interactive binding (CRIB) domain. Destabilization of the CRIB-VCA contact by Cdc42 binding increases the exposure of the C region, which enhances its interaction with the Arp2/3 complex and induces its activation.
Autoinhibitory domains (AIDs)
Target domain |
465-484 (Central region in the C-terminal VCA domain) |
Relief mechanism |
Partner binding |
Assay |
Structural analysis |
Accessory elements
No accessory elements
References
- Kim AS et al. (2000) "Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein", Nature, 404, 151-8
- Padrick SB et al. (2010) "Physical mechanisms of signal integration by WASP family proteins", Annual review of biochemistry, 79, 707-35
- Panchal SC et al. (2003) "A conserved amphipathic helix in WASP/Scar proteins is essential for activation of Arp2/3 complex", Nature structural biology, 10, 591-8
- Padrick SB et al. (2008) "Hierarchical regulation of WASP/WAVE proteins", Molecular cell, 32, 426-38
- Cheng HC et al. (2008) "Structural mechanism of WASP activation by the enterohaemorrhagic E. coli effector EspF(U)", Nature, 454, 1009-13
312 variants for P42768
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs587776742 RCV000011869 |
1 | M>L | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587776745 RCV001225126 RCV000011882 |
4 | G>missing | Wiskott-Aldrich syndrome X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3780494 CA342897 RCV000030595 rs193922415 |
13 | R>* | Wiskott-Aldrich syndrome pancreas [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA162669 RCV001854677 RCV000122263 rs797044476 |
14 | G>R | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412865373 RCV000686435 rs1569493673 |
17 | A>S | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602176299 RCV000011883 |
25 | T>missing | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA412865672 RCV000657918 rs1557006239 VAR_005825 RCV000633307 |
31 | E>K | X-linked severe congenital neutropenia WAS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA412865716 RCV000686843 rs1569493682 |
33 | Q>E | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs132630271 CA341005 RCV000011868 |
34 | R>* | Wiskott-Aldrich syndrome Wiskott-aldrich syndrome (was) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_008106 COSM1165295 RCV000011872 rs132630273 CA255728 |
45 | T>M | large_intestine Thrombocytopenia 1 WAS and THC1 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
VAR_005827 CA255723 RCV000011865 COSM1122129 rs132630269 |
56 | A>V | THC1 endometrium Thrombocytopenia 1 [UniProt, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs132630275 RCV000011875 VAR_033255 CA121361 |
58 | P>R | THC1 Thrombocytopenia, X-linked, intermittent [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs141605347 RCV000907244 CA10403868 |
62 | E>Q | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA10403870 RCV000589566 VAR_005828 RCV000768136 COSM303558 RCV000255132 rs782290433 |
75 | V>M | THC1 X-linked severe congenital neutropenia central_nervous_system Thrombocytopenia 1 [UniProt, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV001509116 rs132630272 RCV000011871 CA121359 VAR_005829 |
82 | S>P | Wiskott-Aldrich syndrome, attenuated WAS; attenuated form [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_005830 RCV000414284 CA341003 RCV000633305 RCV000011864 rs132630268 |
86 | R>H | Wiskott-Aldrich syndrome Wiskott-aldrich syndrome (was) X-linked severe congenital neutropenia WAS [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000011863 rs132630268 VAR_005831 CA341001 |
86 | R>L | Wiskott-Aldrich syndrome Wiskott-aldrich syndrome (was) WAS [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs132630268 CA412866623 RCV000780795 |
86 | R>P | Wiskott-Aldrich syndrome Wiskott-aldrich syndrome (was) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_008110 CA10403875 rs139857045 |
89 | G>D | WAS; mild form [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000633306 CA412866685 rs1557006354 |
91 | Q>* | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000586328 CA412866888 rs1557006474 |
97 | W>* | Wiskott-Aldrich syndrome Wiskott-aldrich syndrome (was) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219012 rs2062416187 |
102 | Y>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000030594 CA342894 rs193922414 |
104 | Q>* | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2062416272 RCV001069236 |
105 | L>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000701351 CA412867192 rs1569493774 |
115 | H>R | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001332389 CA412867412 rs1557006534 |
125 | G>E | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs146220228 VAR_005834 RCV000122268 RCV000514559 CA162684 |
131 | E>K | WAS; found in a patient with MRT52 [UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2062417344 RCV001090058 RCV001784640 |
133 | E>K | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000588019 rs139265251 CA412867848 |
138 | R>P | Thrombocytopenia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1602177562 RCV000797025 |
157 | R>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687253 CA412868692 rs1569493803 |
161 | P>Q | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000030596 CA162689 RCV000419963 rs145040665 RCV000122270 |
180 | H>N | Thrombocytopenia 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000589073 rs1557006672 CA412869529 |
185 | Q>* | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569493862 CA891844001 RCV000686899 |
189 | P>R | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412870915 rs1569493872 RCV000695862 |
230 | K>R | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2062422078 RCV001221529 |
231 | K>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs782409127 RCV000686462 |
232 | K>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs132630270 RCV000011866 CA255725 |
236 | A>G | Thrombocytopenia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs193922416 RCV000030597 |
255 | Q>missing | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000808153 rs1602178952 |
268 | R>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs132630274 RCV000011874 RCV001851800 CA280988 VAR_033256 RCV001291553 |
270 | L>P | XLN; a constitutively activating mutation X-linked severe congenital neutropenia [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000022858 rs387906716 CA281101 |
272 | S>P | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1557007035 RCV000586443 |
285 | E>missing | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001509118 RCV001280623 rs2062426981 |
290 | I>T | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs387906717 CA281104 RCV000022859 |
294 | I>T | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000633308 rs1557007136 CA412872847 |
329 | P>A | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1569494025 RCV000696288 |
334 | G>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
CA412873120 RCV001484626 RCV000981643 rs1307143057 |
350 | A>V | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1557007165 RCV000522198 RCV000990812 |
353 | P>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569494034 RCV000700849 |
354 | P>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002032310 CA329102214 rs267606468 |
358 | G>E | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000011873 rs587776744 |
366 | G>missing | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001385415 RCV001255566 rs886041379 |
386 | P>missing | Wiskott-Aldrich syndrome X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262560 rs1557007283 CA412873498 |
402 | P>L | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs782666797 RCV000766095 RCV000513228 CA10404051 |
403 | P>L | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687335 rs1422863482 CA412873591 |
419 | L>M | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000590506 rs1557007312 |
425 | L>missing | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2062430786 RCV001248465 |
425 | L>PG | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001351992 rs2062432622 |
467 | V>missing | X-linked severe congenital neutropenia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001171382 rs2062432605 |
467 | V>missing | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001171383 rs2062432653 |
469 | A>missing | Wiskott-Aldrich syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA412873957 RCV001029840 rs1602180058 |
475 | Q>* | Thrombocytopenia 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA121363 rs132630276 VAR_033257 RCV000011876 |
481 | I>N | THC1 Thrombocytopenia, X-linked, intermittent [UniProt, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA412864984 rs1216332519 |
2 | S>T | No |
ClinGen TOPMed |
|
|
CA412865137 rs868992548 |
6 | M>I | No |
ClinGen Ensembl |
|
|
CA10403829 rs782730988 |
6 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA16621415 RCV000479329 rs1064793974 |
7 | G>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1270182063 CA412865177 |
7 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
RCV001008772 rs1602176222 |
8 | G>missing | No |
ClinVar dbSNP |
|
|
COSM1232493 COSM252920 rs1557006217 CA412865244 |
11 | G>R | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10403832 rs781942437 |
12 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1440423616 CA412865286 |
13 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10403833 rs782106008 |
14 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs782380914 CA10403834 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569493676 CA412865387 |
18 | V>I | No |
ClinGen Ensembl |
|
|
CA10403835 rs370235898 |
19 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000122264 CA162672 rs797044477 |
20 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412865481 rs1557006230 |
22 | I>V | No |
ClinGen gnomAD |
|
|
CA412865520 rs1464176187 |
23 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10403836 rs374574436 |
25 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782794812 CA10403837 |
30 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1602176327 CA412865711 |
32 | N>K | No |
ClinGen Ensembl |
|
|
COSM1122128 rs368523950 CA10403840 |
34 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs782503796 CA10403842 |
38 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs781839950 CA10403841 |
38 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA412865855 rs1557006245 |
39 | L>P | No |
ClinGen gnomAD |
|
|
COSM1734719 rs11545907 CA329099985 |
41 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10403843 COSM303557 rs782057219 |
43 | C>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA329099999 rs200530781 |
44 | L>V | No |
ClinGen 1000Genomes TOPMed |
|
|
RCV000518983 rs1557006316 |
54 | Y>NLALPP | No |
ClinVar dbSNP |
|
|
rs132630275 CA16621416 RCV000485571 |
58 | P>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412866284 rs1602176620 |
60 | G>E | No |
ClinGen Ensembl |
|
|
CA162681 RCV000122267 rs797044478 |
65 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1557006329 CA412866406 |
67 | E>K | No |
ClinGen gnomAD |
|
|
CA412866450 rs1156735272 |
69 | C>G | No |
ClinGen TOPMed |
|
|
rs374283590 CA10403869 |
69 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1602176652 RCV000852074 CA412866501 |
73 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs782350319 CA10403871 |
76 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA412866568 rs1557006333 |
78 | N>K | No |
ClinGen gnomAD |
|
|
rs368151220 CA16621417 RCV000480615 |
83 | Y>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10403874 rs782405509 |
89 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412866673 rs1557006353 |
90 | L>F | No |
ClinGen gnomAD |
|
|
rs782656368 CA10403894 |
94 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782716215 CA329100664 |
94 | R>W | No |
ClinGen Ensembl |
|
|
CA412866963 rs1557006476 |
101 | L>V | No |
ClinGen gnomAD |
|
|
CA10403895 rs193922414 |
104 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs782605575 CA10403896 |
105 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs2062416328 RCV001091016 |
107 | Y>C | No |
ClinVar dbSNP |
|
|
CA412867136 rs1458417951 |
112 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1458417951 CA412867141 |
112 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10403899 rs782006738 |
118 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA412867237 rs1474819834 |
118 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1602177243 CA412867255 |
119 | G>* | No |
ClinGen Ensembl |
|
|
CA10403910 rs782543817 |
124 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412867511 rs868911636 |
129 | A>E | No |
ClinGen Ensembl |
|
|
rs1085307678 RCV000489103 |
130 | D>missing | No |
ClinVar dbSNP |
|
|
rs1557006548 CA412867522 |
130 | D>N | No |
ClinGen gnomAD |
|
|
rs1557006558 CA412867733 |
135 | Q>* | No |
ClinGen gnomAD |
|
|
CA162686 rs139265251 RCV000122269 COSM1468232 |
138 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1372273668 CA412867835 |
138 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1455281864 CA412867863 |
139 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1557006570 CA412867857 |
139 | A>T | No |
ClinGen gnomAD |
|
|
CA412867900 COSM1331837 rs1557006579 |
141 | V>M | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1557006584 CA412868243 |
151 | R>K | No |
ClinGen gnomAD |
|
|
rs1457848999 CA412868274 |
152 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA412868308 rs1557006588 |
153 | S>I | No |
ClinGen gnomAD |
|
|
CA412868310 rs1557006590 |
153 | S>R | No |
ClinGen gnomAD |
|
|
CA412868570 rs1557006611 |
157 | R>C | No |
ClinGen gnomAD |
|
|
CA10403922 rs369850591 |
157 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10403923 rs369850591 |
157 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412868566 rs1557006611 |
157 | R>S | No |
ClinGen gnomAD |
|
|
CA412868680 rs1557006619 |
160 | P>R | No |
ClinGen gnomAD |
|
|
rs782575181 CA329100953 |
163 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA412868783 rs1557006625 |
164 | T>K | No |
ClinGen gnomAD |
|
|
rs781918613 CA10403926 |
164 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10403930 rs781856200 |
166 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1436551443 CA412869116 |
171 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1250456911 CA412869137 |
172 | G>R | No |
ClinGen TOPMed |
|
|
CA329101038 rs977956095 |
174 | L>F | No |
ClinGen Ensembl |
|
|
CA10403941 rs149932808 |
175 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149932808 CA329101063 |
175 | P>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1557006667 CA412869269 |
176 | P>L | No |
ClinGen gnomAD |
|
|
CA412869268 rs1557006662 |
176 | P>S | No |
ClinGen gnomAD |
|
|
CA412869257 rs1557006662 |
176 | P>T | No |
ClinGen gnomAD |
|
|
rs145040665 CA412869359 |
180 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782745511 CA10403956 |
192 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10403958 rs782517747 |
193 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412869950 rs782517747 |
193 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557006801 CA412870022 |
196 | G>R | No |
ClinGen gnomAD |
|
|
rs200261212 CA412870073 |
198 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200261212 CA10403959 |
198 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412870274 rs1557006807 |
204 | N>S | No |
ClinGen gnomAD |
|
|
CA412870488 rs868948251 |
210 | S>L | No |
ClinGen Ensembl |
|
|
rs1602178165 CA412870494 COSM1491012 |
211 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA10403962 rs782584950 |
211 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10403963 rs782224455 |
213 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557006813 CA412870636 |
217 | A>E | No |
ClinGen gnomAD |
|
|
CA412870833 rs1395882218 |
227 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs374458439 CA10403964 |
227 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782638115 CA10403966 |
229 | G>V | No |
ClinGen ExAC TOPMed |
|
|
CA329101399 rs938467045 |
232 | K>M | No |
ClinGen Ensembl |
|
|
rs782415042 CA10403968 |
236 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV001311068 rs2062422194 |
238 | I>T | No |
ClinVar dbSNP |
|
|
CA10403969 rs782286374 |
242 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA329101445 rs947162120 |
242 | S>R | No |
ClinGen Ensembl |
|
|
rs1569493949 CA412872043 |
246 | H>Q | No |
ClinGen Ensembl |
|
|
rs782488331 CA10403979 |
250 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782488331 CA412872066 |
250 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557006972 CA412872083 |
252 | W>* | No |
ClinGen gnomAD |
|
|
CA10403980 rs782631956 |
255 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs781868934 CA10403981 |
259 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1557007014 CA412872159 |
261 | N>K | No |
ClinGen gnomAD |
|
|
CA412872187 rs1569493960 |
265 | P>R | No |
ClinGen Ensembl |
|
|
rs376560886 CA10403992 |
268 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782149318 CA10403991 |
268 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782712522 CA329101971 |
271 | F>I | No |
ClinGen Ensembl |
|
|
CA412872274 rs1557007025 |
279 | A>D | No |
ClinGen gnomAD |
|
|
rs1557007029 CA412872292 |
282 | T>A | No |
ClinGen gnomAD |
|
|
rs1557007032 CA412872297 |
283 | D>N | No |
ClinGen gnomAD |
|
|
rs782730052 CA412872312 |
285 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs782730052 CA10403995 |
285 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA412872391 rs1186676831 |
296 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs781898144 CA10403999 |
301 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782445816 CA412872491 |
304 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10404000 rs782445816 |
304 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA412872519 rs1557007052 |
306 | E>K | No |
ClinGen gnomAD |
|
|
rs1557007056 CA412872531 |
307 | M>V | No |
ClinGen gnomAD |
|
|
rs1215457658 CA412872565 |
309 | R>C | No |
ClinGen TOPMed |
|
|
rs1557007058 COSM1270337 CA412872568 |
309 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs782752881 CA10404019 |
314 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557007111 CA412872684 |
315 | P>S | No |
ClinGen gnomAD |
|
|
CA10404021 rs372779500 |
316 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1216981272 CA412872727 |
318 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA412872731 rs1293491313 |
319 | P>S | No |
ClinGen TOPMed |
|
|
rs1443322705 CA412872753 |
320 | S>F | No |
ClinGen TOPMed |
|
|
rs1557007123 CA412872755 RCV000520558 |
321 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412872759 rs782802310 COSM1315550 |
321 | R>P | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10404022 rs782802310 |
321 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16622100 rs930931192 |
325 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1557007128 CA412872830 |
327 | P>T | No |
ClinGen gnomAD |
|
|
CA10404023 rs781910412 |
328 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1395979315 CA412872839 |
328 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1178247738 CA16622101 |
330 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1431544968 CA412872880 |
331 | I>M | No |
ClinGen TOPMed |
|
|
CA162675 rs2737799 RCV000513811 RCV000122265 |
332 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10404027 rs782659259 |
333 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA412872910 rs782659259 |
333 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs782420124 CA10404029 |
334 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557007149 CA412872957 |
337 | G>S | No |
ClinGen gnomAD |
|
|
CA10404030 rs781917584 |
338 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA412872978 rs781917584 |
338 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA10404031 rs782195195 |
341 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412873052 rs1557007154 |
345 | V>L | No |
ClinGen gnomAD |
|
|
CA412873135 rs1557007163 |
352 | P>S | No |
ClinGen gnomAD |
|
|
CA412873156 rs1352933844 |
354 | P>A | No |
ClinGen TOPMed |
|
|
CA10404033 rs781960144 |
355 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1286831963 CA412873195 |
357 | R>Q | No |
ClinGen TOPMed |
|
|
rs868952058 CA412873230 |
360 | P>L | No |
ClinGen gnomAD |
|
|
rs868952058 CA412873232 |
360 | P>Q | No |
ClinGen gnomAD |
|
|
rs201657175 CA10404035 |
361 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1557007181 CA412873263 |
363 | G>D | No |
ClinGen gnomAD |
|
|
rs1557007188 CA412873298 |
369 | P>A | No |
ClinGen gnomAD |
|
|
rs1557007191 CA412873303 |
369 | P>L | No |
ClinGen gnomAD |
|
|
CA412873307 rs1557007197 |
370 | P>L | No |
ClinGen gnomAD |
|
|
CA412873315 rs1557007203 |
371 | P>L | No |
ClinGen gnomAD |
|
|
rs1160009787 CA412873310 |
371 | P>T | No |
ClinGen TOPMed |
|
|
rs782706383 CA10404038 |
372 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA412873326 rs1181105100 |
373 | P>L | No |
ClinGen TOPMed |
|
|
CA412873321 rs1557007211 |
373 | P>S | No |
ClinGen gnomAD |
|
|
CA412873329 rs868936975 |
374 | A>D | No |
ClinGen Ensembl |
|
|
CA10404039 rs781808308 |
374 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412873339 rs1557007220 |
376 | G>* | No |
ClinGen gnomAD |
|
|
rs1557007227 CA412873341 |
376 | G>E | No |
ClinGen gnomAD |
|
|
rs1257775061 CA412873346 |
377 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs868995772 CA329102263 |
377 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1557007233 CA412873355 |
379 | G>R | No |
ClinGen gnomAD |
|
|
CA412873365 rs1557007236 |
380 | P>R | No |
ClinGen gnomAD |
|
|
rs868926834 CA412873373 |
382 | P>T | No |
ClinGen Ensembl |
|
|
rs782761074 CA10404041 |
384 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782761074 CA329102264 |
384 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412873391 rs1557007239 |
385 | P>A | No |
ClinGen gnomAD |
|
|
rs1260793617 CA412873395 |
385 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868990312 CA412873400 |
386 | P>H | No |
ClinGen Ensembl |
|
|
rs895243178 CA329102302 |
386 | P>S | No |
ClinGen TOPMed |
|
|
rs886041379 RCV000289685 |
387 | G>missing | No |
ClinVar dbSNP |
|
|
rs868970795 CA412873418 |
389 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1557007251 CA412873432 |
391 | P>L | No |
ClinGen gnomAD |
|
|
CA10404043 rs782546323 |
392 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA329102334 rs1043747875 |
392 | P>T | No |
ClinGen Ensembl |
|
|
CA10404044 rs373524969 |
394 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412873448 rs1557007253 |
394 | P>S | No |
ClinGen gnomAD |
|
|
rs1557007265 CA412873463 |
396 | P>L | No |
ClinGen gnomAD |
|
|
rs1557007272 CA412873469 |
397 | P>L | No |
ClinGen gnomAD |
|
|
RCV000414714 rs1057518633 |
398 | P>missing | No |
ClinVar dbSNP |
|
|
rs1602179582 CA412873480 |
399 | P>R | No |
ClinGen Ensembl |
|
|
CA412873483 rs1394506078 |
400 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs782596670 CA10404048 |
400 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412873484 rs1394506078 |
400 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA412873509 rs1557007288 |
404 | P>L | No |
ClinGen gnomAD |
|
|
rs782602857 CA412873524 |
407 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782602857 CA10404054 |
407 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10404055 rs782071252 |
409 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1461940134 CA412873546 |
410 | P>R | No |
ClinGen TOPMed |
|
|
rs781967249 CA412873551 |
411 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs781967249 CA10404057 |
411 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1064793292 RCV000479829 |
413 | P>missing | No |
ClinVar dbSNP |
|
|
rs1008698682 CA329102421 |
414 | P>R | No |
ClinGen Ensembl |
|
|
rs782115211 CA10404058 |
415 | L>P | No |
ClinGen ExAC |
|
|
CA412873580 rs1557007304 |
416 | P>L | No |
ClinGen gnomAD |
|
|
CA10404059 rs782784813 |
418 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10404060 rs781903491 |
418 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422863482 CA412873592 |
419 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA412873612 rs1557007309 |
422 | A>G | No |
ClinGen gnomAD |
|
|
rs868943283 CA412873615 |
423 | G>E | No |
ClinGen Ensembl |
|
|
rs782711732 CA10404063 |
423 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782711732 CA10404062 |
423 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1557007314 CA412873626 |
425 | L>Q | No |
ClinGen gnomAD |
|
|
rs201085962 CA10404065 |
426 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782307200 CA10404066 |
427 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782553062 CA10404067 |
429 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412873654 rs1557007328 |
430 | G>A | No |
ClinGen gnomAD |
|
|
CA412873658 rs1602179758 |
431 | R>Q | No |
ClinGen Ensembl |
|
|
rs1208621552 CA412873657 |
431 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs782181574 CA10404069 |
433 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782605668 CA10404070 |
434 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs782235068 CA10404071 |
436 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA412873711 rs1243089358 |
440 | Q>K | No |
ClinGen TOPMed |
|
|
CA412873785 rs1557007424 |
449 | G>R | No |
ClinGen gnomAD |
|
|
rs1557007428 CA412873809 |
452 | E>D | No |
ClinGen gnomAD |
|
|
rs57489208 CA329102747 |
452 | E>K | No |
ClinGen gnomAD |
|
|
rs995913634 CA329102755 |
453 | S>T | No |
ClinGen gnomAD |
|
|
CA412873827 rs1347193089 |
455 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1557007434 CA412873836 |
457 | Q>* | No |
ClinGen gnomAD |
|
|
RCV000999413 rs1602180020 |
459 | P>missing | No |
ClinVar dbSNP |
|
|
rs782489472 CA10404085 |
460 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000122266 rs143885622 CA162678 RCV000224336 |
460 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs782636781 CA10404086 |
463 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1557007444 CA412873955 |
474 | M>I | No |
ClinGen gnomAD |
|
|
rs1351097717 CA412873962 |
475 | Q>H | No |
ClinGen TOPMed |
|
|
CA412873986 rs1289921805 |
478 | S>R | No |
ClinGen TOPMed |
|
|
rs1064793293 RCV000482823 CA16621420 |
485 | D>N | Wiskott-aldrich syndrome (was) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs975384814 CA329103328 |
486 | E>D | No |
ClinGen TOPMed |
|
|
RCV001270616 rs2062438405 |
486 | E>K | No |
ClinVar dbSNP |
|
|
CA10404103 rs781858831 |
489 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412874066 rs868908843 |
489 | D>N | No |
ClinGen Ensembl |
|
|
rs782798363 CA10404105 |
491 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557007718 CA412874086 |
492 | G>S | No |
ClinGen gnomAD |
|
|
rs782452466 CA412874098 |
493 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781790075 CA10404106 |
493 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782607150 CA10404108 |
497 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1557007723 CA412874125 |
497 | D>Y | No |
ClinGen gnomAD |
|
|
rs1557007727 CA412874150 RCV000587260 |
500 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
3 associated diseases with P42768
[MIM: 301000]: Wiskott-Aldrich syndrome (WAS)
An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. {ECO:0000269|PubMed:10447259, ECO:0000269|PubMed:11793485, ECO:0000269|PubMed:20574068, ECO:0000269|PubMed:7753869, ECO:0000269|PubMed:8528198, ECO:0000269|PubMed:8528199, ECO:0000269|PubMed:8682510, ECO:0000269|PubMed:9098856, ECO:0000269|PubMed:9126958, ECO:0000269|PubMed:9445409, ECO:0000269|PubMed:9683546, ECO:0000269|PubMed:9713366}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 313900]: Thrombocytopenia 1 (THC1)
A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. {ECO:0000269|PubMed:10447259, ECO:0000269|PubMed:11167787, ECO:0000269|PubMed:11877312, ECO:0000269|PubMed:7795648, ECO:0000269|PubMed:8528199}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300299]: Neutropenia, severe congenital, X-linked (XLN)
A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269|PubMed:11242115}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, recurrent infections, and bloody diarrhea. Death usually occurs before age 10. {ECO:0000269|PubMed:10447259, ECO:0000269|PubMed:11793485, ECO:0000269|PubMed:20574068, ECO:0000269|PubMed:7753869, ECO:0000269|PubMed:8528198, ECO:0000269|PubMed:8528199, ECO:0000269|PubMed:8682510, ECO:0000269|PubMed:9098856, ECO:0000269|PubMed:9126958, ECO:0000269|PubMed:9445409, ECO:0000269|PubMed:9683546, ECO:0000269|PubMed:9713366}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. {ECO:0000269|PubMed:10447259, ECO:0000269|PubMed:11167787, ECO:0000269|PubMed:11877312, ECO:0000269|PubMed:7795648, ECO:0000269|PubMed:8528199}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. {ECO:0000269|PubMed:11242115}. Note=The disease is caused by variants affecting the gene represented in this entry.
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| phagocytic vesicle | A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| site of double-strand break | A region of a chromosome at which a DNA double-strand break has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
| vesicle membrane | The lipid bilayer surrounding any membrane-bounded vesicle in the cell. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| GTPase regulator activity | Binds to and modulates the activity of a GTPase. |
| identical protein binding | Binding to an identical protein or proteins. |
| phospholipase binding | Binding to a phospholipase. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
| small GTPase binding | Binding to a small monomeric GTPase. |
21 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament polymerization | Assembly of actin filaments by the addition of actin monomers to a filament. |
| actin filament-based movement | Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. |
| actin polymerization or depolymerization | Assembly or disassembly of actin filaments by the addition or removal of actin monomers from a filament. |
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. |
| Cdc42 protein signal transduction | The series of molecular signals within the cell that are mediated by the Cdc42 protein switching to a GTP-bound active state. |
| cellular response to interferon-gamma | 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 an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| defense response | Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. |
| endosomal transport | The directed movement of substances mediated by an endosome, a membrane-bounded organelle that carries materials enclosed in the lumen or located in the endosomal membrane. |
| epidermis development | The process whose specific outcome is the progression of the epidermis over time, from its formation to the mature structure. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species. |
| immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
| negative regulation of cell motility | Any process that stops, prevents, or reduces the frequency, rate or extent of cell motility. |
| negative regulation of stress fiber assembly | Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| positive regulation of Arp2/3 complex-mediated actin nucleation | Any process that activates or increases the frequency, rate or extent of Arp2/3 complex-mediated actin nucleation. |
| positive regulation of double-strand break repair via homologous recombination | Any process that activates or increases the frequency, rate or extent of double-strand break repair via homologous recombination. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of actin polymerization or depolymerization | Any process that modulates the frequency, rate or extent of the assembly or disassembly of actin filaments by the addition or removal of actin monomers from a filament. |
| regulation of lamellipodium assembly | Any process that modulates the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| regulation of stress fiber assembly | Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| regulation of T cell antigen processing and presentation | Any process that modulates the frequency, rate, or extent of T cell antigen processing and presentation. |
| T cell activation | The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q95107 | WASL | Actin nucleation-promoting factor WASL | Bos taurus (Bovine) | SS |
| O00401 | WASL | Actin nucleation-promoting factor WASL | Homo sapiens (Human) | EV |
| P70315 | Was | Wiskott-Aldrich syndrome protein homolog | Mus musculus (Mouse) | SS |
| Q91YD9 | Wasl | Actin nucleation-promoting factor WASL | Mus musculus (Mouse) | SS |
| O08816 | Wasl | Actin nucleation-promoting factor WASL | Rattus norvegicus (Rat) | EV |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGGPMGGRP | GGRGAPAVQQ | NIPSTLLQDH | ENQRLFEMLG | RKCLTLATAV | VQLYLALPPG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AEHWTKEHCG | AVCFVKDNPQ | KSYFIRLYGL | QAGRLLWEQE | LYSQLVYSTP | TPFFHTFAGD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DCQAGLNFAD | EDEAQAFRAL | VQEKIQKRNQ | RQSGDRRQLP | PPPTPANEER | RGGLPPLPLH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PGGDQGGPPV | GPLSLGLATV | DIQNPDITSS | RYRGLPAPGP | SPADKKRSGK | KKISKADIGA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PSGFKHVSHV | GWDPQNGFDV | NNLDPDLRSL | FSRAGISEAQ | LTDAETSKLI | YDFIEDQGGL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EAVRQEMRRQ | EPLPPPPPPS | RGGNQLPRPP | IVGGNKGRSG | PLPPVPLGIA | PPPPTPRGPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PPGRGGPPPP | PPPATGRSGP | LPPPPPGAGG | PPMPPPPPPP | PPPPSSGNGP | APPPLPPALV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PAGGLAPGGG | RGALLDQIRQ | GIQLNKTPGA | PESSALQPPP | QSSEGLVGAL | MHVMQKRSRA |
| 490 | 500 | ||||
| IHSSDEGEDQ | AGDEDEDDEW | DD |