O00401
EV
Gene name |
WASL |
Protein name |
Actin nucleation-promoting factor WASL |
Names |
Neural Wiskott-Aldrich syndrome protein, N-WASP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8976 |
EC number |
|
Protein Class |
SPROUTY-RELATED, EVH1 DOMAIN-CONTAINING PROTEIN FAMILY MEMBER (PTHR11202) |
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 |
466-485 (Central region in the C-terminal VCA domain) |
Relief mechanism |
Partner binding |
Assay |
Structural analysis, Deletion assay, Mutagenesis experiment |
Accessory elements
No accessory elements
References
- Peterson JR et al. (2004) "Autoinhibited proteins as promising drug targets", Journal of cellular biochemistry, 93, 68-73
- 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
- Mauricio RP et al. (2017) "The Shigella Virulence Factor IcsA Relieves N-WASP Autoinhibition by Displacing the Verprolin Homology/Cofilin/Acidic (VCA) Domain", The Journal of biological chemistry, 292, 134-145
Autoinhibited structure
Activated structure
362 variants for O00401
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| COSM4830432 | 1 | M>? | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs761816109 CA166501591 |
3 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761816109 CA4463697 |
3 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166501589 rs373904257 |
4 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA369152339 rs1285767885 |
4 | V>G | No |
ClinGen gnomAD |
|
|
CA166501590 rs373904257 |
4 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs748762781 CA4463695 |
5 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA369152333 rs1384422654 |
5 | Q>L | No |
ClinGen gnomAD |
|
|
CA4463693 COSM4740769 rs779588397 |
7 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA369152319 rs779588397 |
7 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140269037 CA4463691 |
8 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1357678162 CA369152311 |
9 | P>A | No |
ClinGen gnomAD |
|
|
CA369152307 rs527876668 |
9 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs527876668 CA4463690 |
9 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369152304 rs1304247215 |
10 | P>S | No |
ClinGen TOPMed |
|
|
rs1429654517 CA369152295 |
11 | P>L | No |
ClinGen gnomAD |
|
|
rs1479997458 CA369152298 |
11 | P>S | No |
ClinGen gnomAD |
|
|
CA369152294 rs1427857891 |
12 | R>W | No |
ClinGen Ensembl |
|
|
CA369152275 rs1346620235 |
15 | T>A | No |
ClinGen gnomAD |
|
|
rs369157737 CA4463684 |
15 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369152272 rs369157737 |
15 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369152263 rs1224138688 |
17 | V>M | No |
ClinGen TOPMed |
|
|
rs766540174 CA4463680 |
20 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375389969 CA4463678 |
23 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774434110 CA4463675 |
24 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs768654148 CA166501586 |
24 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768654148 CA4463674 |
24 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762394166 CA4463673 |
25 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376996365 CA369152217 |
25 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769372861 CA4463671 |
29 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143323888 CA166501584 |
30 | L>F | No |
ClinGen ESP |
|
|
CA4463668 rs200236916 |
32 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 32 | T>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532047540 CA166501582 |
33 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs956391926 CA166501583 |
33 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 36 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1084954 | 38 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4463628 rs765021597 |
40 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765021597 CA4463629 |
40 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1408653582 CA369070232 |
40 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1240471597 CA369070229 |
41 | M>V | No |
ClinGen gnomAD |
|
|
rs1192599718 CA369070219 |
42 | S>A | No |
ClinGen gnomAD |
|
|
rs774632321 CA166043879 |
49 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4463623 rs774632321 |
49 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4463624 rs760295887 |
49 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4463622 COSM3745510 rs201648416 |
50 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 52 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4463620 rs776077072 |
53 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4463621 rs763161010 |
53 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770149472 CA4463619 |
55 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369070133 rs1311675032 |
56 | M>V | No |
ClinGen TOPMed |
|
|
rs1326444341 CA369070114 |
58 | S>A | No |
ClinGen gnomAD |
|
|
rs1319887205 CA369070113 |
58 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369070090 rs1283065264 |
61 | C>Y | No |
ClinGen TOPMed |
|
|
CA4463616 rs199685282 |
71 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4463615 rs747221096 |
73 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1447710 rs1384042654 CA369069999 |
74 | R>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 78 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369069954 rs1187911050 |
80 | I>M | No |
ClinGen TOPMed |
|
|
rs1167782047 CA369069960 |
80 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4463614 rs777499518 |
82 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758221275 CA4463613 |
83 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA369069898 rs1230960377 |
86 | G>V | No |
ClinGen gnomAD |
|
|
CA166043048 rs879842802 |
89 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1584862117 CA918119776 |
92 | Q>IK* | No |
ClinGen Ensembl |
|
|
CA369069827 rs1314454623 |
96 | N>S | No |
ClinGen gnomAD |
|
| COSM3632697 | 98 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1358032001 CA369069808 |
99 | V>I | No |
ClinGen gnomAD |
|
|
rs1358032001 CA369069806 |
99 | V>L | No |
ClinGen gnomAD |
|
|
CA166043045 rs957297631 |
101 | N>S | No |
ClinGen TOPMed |
|
|
rs142292404 CA166043035 |
102 | S>I | No |
ClinGen ESP TOPMed gnomAD |
|
| COSM1330119 | 103 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA369069764 rs772140282 |
105 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4463593 rs772140282 |
105 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369069746 rs1381390480 |
107 | F>L | No |
ClinGen gnomAD |
|
|
rs1385369601 CA369069722 |
111 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1385369601 CA369069721 |
111 | A>S | No |
ClinGen TOPMed gnomAD |
|
| COSM4543322 | 112 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1371700476 CA369069707 |
113 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1371700476 CA369069706 |
113 | D>V | No |
ClinGen TOPMed gnomAD |
|
| COSM286489 | 113 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs761343327 CA4463584 |
114 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs753156195 CA4463583 |
116 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs374065985 CA4463582 |
117 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369069662 rs1370936826 |
118 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760188444 CA4463581 |
123 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4463580 rs567860460 |
123 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM6108280 | 124 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4463579 rs766938861 |
125 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1230774344 CA369069597 |
127 | A>V | No |
ClinGen TOPMed |
|
|
CA369069595 rs1472060299 |
128 | K>E | No |
ClinGen TOPMed |
|
|
CA369069581 rs1160030468 |
129 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 129 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344862779 CA369069584 |
129 | K>R | No |
ClinGen gnomAD |
|
| rs1191999623 | 130 | F>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369069580 rs1401078410 COSM3877738 |
130 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM136628 | 131 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM175515 rs200364266 CA4463578 |
131 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs967271691 CA166042922 |
133 | A>T | No |
ClinGen TOPMed |
|
|
rs1262865012 CA369069558 |
133 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1188722685 CA369069553 |
134 | V>I | No |
ClinGen gnomAD |
|
|
CA4463577 rs148712232 COSM130188 |
135 | T>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA369069528 rs1269020619 |
138 | L>* | No |
ClinGen gnomAD |
|
|
rs1259802862 CA369069507 COSM1447709 |
141 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| COSM484730 | 143 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4463575 COSM1755055 rs748301856 |
145 | S>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4463559 rs755410830 |
148 | R>G | No |
ClinGen ExAC gnomAD |
|
| COSM286488 | 148 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs940508607 CA166042553 |
149 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM1084953 rs11550943 CA4463558 |
149 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs373888010 CA4463556 |
151 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773395190 CA4463554 |
152 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4463553 rs767487833 |
153 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA369069202 rs1297439529 |
153 | N>S | No |
ClinGen gnomAD |
|
|
rs1363164101 CA369067634 |
154 | G>V | No |
ClinGen gnomAD |
|
|
rs1270581320 CA369067576 |
157 | L>V | No |
ClinGen TOPMed |
|
|
CA4463540 rs145467133 |
160 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4463539 rs559192460 |
161 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 164 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369067165 rs1562958316 |
172 | N>I | No |
ClinGen Ensembl |
|
|
CA166040232 rs772456960 |
174 | F>C | No |
ClinGen Ensembl |
|
|
CA369067070 rs1418811870 |
175 | Y>C | No |
ClinGen gnomAD |
|
|
rs376787353 CA4463537 |
177 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4463536 rs750895526 |
178 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1489900152 CA369066992 |
178 | Q>P | No |
ClinGen gnomAD |
|
|
CA4463535 rs768007010 |
179 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA369066965 rs1358700620 |
180 | N>Y | No |
ClinGen gnomAD |
|
|
rs751598781 CA4463533 |
181 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 185 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 187 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4463530 rs147511564 |
188 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 190 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343152519 CA369066674 |
193 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3831769 | 196 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA166040211 rs915181984 |
198 | L>S | No |
ClinGen TOPMed |
|
|
CA166040200 rs887160005 |
205 | T>I | No |
ClinGen Ensembl |
|
|
CA4463526 rs770857108 |
206 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA369066446 rs1413160676 |
207 | S>G | No |
ClinGen gnomAD |
|
|
CA4463525 rs746552699 |
210 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM484729 | 211 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs143198346 CA4463500 |
212 | I>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 213 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA166039945 rs113356852 |
219 | P>S | No |
ClinGen Ensembl |
|
|
CA369066247 rs1267875908 |
220 | N>D | No |
ClinGen gnomAD |
|
|
rs1267875908 CA369066250 |
220 | N>H | No |
ClinGen gnomAD |
|
| COSM3831768 | 224 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1477856255 CA369065919 |
227 | N>D | No |
ClinGen TOPMed |
|
|
rs758865415 CA4463473 |
231 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 231 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182270055 CA369065768 |
234 | N>S | No |
ClinGen gnomAD |
|
|
COSM278112 CA369065709 rs1231120773 |
237 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA369065707 rs1231120773 |
237 | D>Y | No |
ClinGen gnomAD |
|
|
rs1181280452 CA369065689 |
238 | M>L | No |
ClinGen gnomAD |
|
| COSM1447707 | 239 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 240 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369065635 rs1483137001 |
240 | G>R | No |
ClinGen gnomAD |
|
|
rs111837335 CA166039647 |
241 | I>V | No |
ClinGen Ensembl |
|
| COSM3632695 | 242 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA369065562 rs1276141489 |
243 | E>D | No |
ClinGen gnomAD |
|
|
CA166039642 rs1048109939 |
254 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 260 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 262 | T>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 263 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943784702 CA166039637 |
265 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA577273781 rs1371540657 |
266 | E>* | No |
ClinGen gnomAD |
|
| COSM4926043 | 268 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM2767515 | 271 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1584857173 CA369065069 |
273 | R>Q | No |
ClinGen Ensembl |
|
|
CA369065071 rs1410958376 |
273 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| COSM1084950 | 274 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1297805153 CA369065061 |
274 | R>T | No |
ClinGen TOPMed |
|
|
rs1352461604 CA369065037 |
276 | A>S | No |
ClinGen gnomAD |
|
|
CA369064179 rs1254245636 |
279 | P>S | No |
ClinGen TOPMed |
|
|
CA4463444 rs751518942 |
280 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369064164 rs1470059896 |
280 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 283 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4463441 rs752163671 |
283 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1158838186 CA369064040 |
287 | P>A | No |
ClinGen TOPMed |
|
|
rs1158838186 CA369064039 |
287 | P>S | No |
ClinGen TOPMed |
|
|
rs1409496589 CA369064015 |
288 | P>L | No |
ClinGen TOPMed |
|
|
rs773628569 CA4463437 |
292 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4463438 rs759169618 |
292 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4463435 rs772484020 COSM3366753 |
293 | P>S | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1395125644 CA369063853 |
296 | N>I | No |
ClinGen TOPMed |
|
| TCGA novel | 297 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 298 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4463433 rs774940336 |
298 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369063807 rs1304225825 |
299 | P>A | No |
ClinGen Ensembl |
|
|
rs1470821119 CA369063781 |
300 | P>R | No |
ClinGen gnomAD |
|
| COSM421615 | 301 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1212838293 CA369063758 |
301 | P>L | No |
ClinGen gnomAD |
|
|
CA4463432 rs769001095 |
302 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4463431 rs749422548 |
303 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA369063709 rs1354322273 |
304 | A>G | No |
ClinGen TOPMed |
|
|
CA369063714 rs1334999373 |
304 | A>T | No |
ClinGen TOPMed |
|
|
CA369063617 rs1444172920 |
309 | A>T | No |
ClinGen gnomAD |
|
|
CA369063605 rs1390551138 |
309 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770197565 CA4463426 |
312 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 312 | P>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA166039049 rs1056398818 |
312 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4463425 rs369816293 |
315 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177646111 CA369063510 |
316 | R>G | No |
ClinGen gnomAD |
|
|
rs938058189 CA166039042 |
317 | A>V | No |
ClinGen TOPMed |
|
|
CA4463423 rs375564703 |
318 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369063465 rs1234266682 |
318 | P>S | No |
ClinGen TOPMed |
|
| COSM744756 | 321 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs751264121 COSM396230 CA4463422 |
322 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA166039036 rs905283111 |
322 | P>S | No |
ClinGen Ensembl |
|
|
CA369063403 rs1418423850 |
323 | P>A | No |
ClinGen TOPMed |
|
|
rs1211921532 CA369063398 |
323 | P>L | No |
ClinGen gnomAD |
|
|
CA4463421 rs777800143 |
325 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4463420 rs770085703 |
326 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4463419 rs201936244 |
327 | P>S | No |
ClinGen 1000Genomes ExAC |
|
| COSM3831767 | 330 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs753496686 CA4463416 |
331 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4463415 rs200072224 |
331 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200970665 CA4463414 |
332 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA166039020 rs200970665 |
332 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA166039017 rs1020165480 |
333 | A>V | No |
ClinGen TOPMed |
|
|
rs1294011081 CA369063236 |
334 | V>A | No |
ClinGen TOPMed |
|
|
CA369063208 rs1395196025 |
336 | P>A | No |
ClinGen gnomAD |
|
|
rs371192595 CA4463412 |
338 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA369063127 rs1369396918 |
339 | P>L | No |
ClinGen gnomAD |
|
|
CA4463410 rs775777731 |
339 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs944963680 CA166039008 |
342 | M>I | No |
ClinGen TOPMed |
|
|
CA369063016 rs1431232114 |
343 | Y>* | No |
ClinGen gnomAD |
|
|
CA369063035 rs1168900267 |
343 | Y>H | No |
ClinGen gnomAD |
|
|
CA369063021 rs1584856319 |
343 | Y>S | No |
ClinGen Ensembl |
|
|
rs534592204 CA166039006 |
344 | P>L | No |
ClinGen 1000Genomes |
|
|
CA4463409 rs769998418 |
346 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1197928682 CA369062949 |
347 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 348 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424699642 CA369062925 |
348 | P>S | No |
ClinGen gnomAD |
|
|
rs777016043 CA4463407 |
349 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA369062871 rs1562957411 |
350 | L>P | No |
ClinGen Ensembl |
|
|
rs866724490 CA166038995 |
351 | P>L | No |
ClinGen gnomAD |
|
|
rs866724490 CA369062857 |
351 | P>R | No |
ClinGen gnomAD |
|
|
CA4463406 rs771020115 |
351 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM4824307 | 353 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4463405 rs746863706 |
355 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357591567 CA369062760 |
357 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| COSM1447706 | 358 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA369062751 rs1475939863 |
358 | P>L | No |
ClinGen TOPMed |
|
|
CA369062737 rs1322034113 |
359 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 359 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373820090 CA369062693 |
363 | P>L | No |
ClinGen TOPMed |
|
|
rs1434320918 CA369062680 |
364 | S>C | No |
ClinGen TOPMed |
|
|
CA369062668 rs1313763447 |
365 | V>A | No |
ClinGen TOPMed |
|
|
rs985792769 CA369062652 CA166038977 |
367 | G>R | No |
ClinGen Ensembl |
|
|
rs145197467 CA4463400 |
368 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145197467 CA369062630 |
368 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369062547 rs1388147107 |
372 | A>T | No |
ClinGen gnomAD |
|
|
CA369062525 rs1295406526 |
373 | P>S | No |
ClinGen TOPMed |
|
|
CA369062509 rs1273419929 |
374 | P>H | No |
ClinGen TOPMed |
|
|
rs200081792 CA4463396 |
374 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200081792 CA166038969 |
374 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201757948 CA4463394 |
375 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4463392 rs765790894 |
376 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369062378 rs1210658120 |
380 | P>L | No |
ClinGen gnomAD |
|
|
rs1266948939 CA369062389 |
380 | P>S | No |
ClinGen gnomAD |
|
|
rs776544629 CA4463389 |
381 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 382 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371633438 CA4463386 |
385 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4463385 rs747187469 |
386 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs773128743 CA369062269 |
386 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4463384 rs773128743 |
386 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555057892 CA4463382 |
387 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746219155 CA166038940 |
387 | P>S | No |
ClinGen gnomAD |
|
|
CA369062234 rs754875162 |
388 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034268469 CA166038924 |
388 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369062227 rs1034268469 |
388 | P>R | No |
ClinGen gnomAD |
|
|
CA4463380 rs754875162 |
388 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369062191 COSM744757 rs755860707 |
390 | G>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4463376 rs755860707 |
390 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370698655 CA369062182 |
390 | G>V | No |
ClinGen TOPMed |
|
|
CA369062088 rs1246385529 |
394 | D>G | No |
ClinGen gnomAD |
|
|
CA4463372 rs758855485 |
394 | D>H | No |
ClinGen ExAC TOPMed |
|
|
CA369062070 rs1206617029 |
395 | G>R | No |
ClinGen gnomAD |
|
|
CA369062046 rs1236193350 |
396 | D>Y | No |
ClinGen TOPMed |
|
|
rs1210495842 CA369062018 |
397 | H>Q | No |
ClinGen gnomAD |
|
|
rs144822723 CA4463370 |
397 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760100676 CA4463369 |
400 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA369061966 rs1273698279 |
401 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs781432286 CA166038898 |
402 | T>A | No |
ClinGen Ensembl |
|
|
rs1474574954 CA369061950 |
403 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369061915 rs1233289839 |
405 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 406 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1584856146 CA369061890 |
407 | A>V | No |
ClinGen Ensembl |
|
|
rs776831908 CA4463368 |
408 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1084949 | 409 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA369061864 rs1389838302 |
411 | D>H | No |
ClinGen gnomAD |
|
|
CA369061857 rs1323207806 |
412 | Q>K | No |
ClinGen gnomAD |
|
| COSM4402063 | 413 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4463365 rs773324846 |
415 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569366016 CA166038890 |
415 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4463364 rs772238108 |
416 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 418 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749176515 CA4463360 |
420 | K>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 420 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158703313 COSM1447704 |
422 | V>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs1158703313 COSM1447705 |
422 | V>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs1248381499 CA369061770 |
424 | Q>H | No |
ClinGen gnomAD |
|
|
rs1455465499 CA369061773 |
424 | Q>R | No |
ClinGen TOPMed |
|
|
CA369061760 rs1217914316 |
426 | S>G | No |
ClinGen gnomAD |
|
|
rs769200998 CA4463358 |
427 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs549487451 CA4463357 |
427 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549487451 CA166038868 |
427 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374246670 CA4463356 |
429 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227194667 CA369061677 |
431 | C>W | No |
ClinGen gnomAD |
|
| COSM351506 | 433 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA369061645 rs1366437790 |
434 | R>* | No |
ClinGen gnomAD |
|
|
rs753163293 CA4463354 |
434 | R>Q | No |
ClinGen ExAC gnomAD |
|
| COSM1084948 | 435 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA369061557 rs1562957277 |
439 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 439 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4463351 rs199616200 |
441 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145122486 CA4463350 |
443 | Q>H | No |
ClinGen ESP ExAC |
|
|
CA4463349 rs191076502 |
445 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369061424 rs1371693954 |
448 | K>R | No |
ClinGen TOPMed |
|
|
CA4463334 rs780827183 |
451 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA166038015 rs897383305 |
451 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs559088429 CA166038010 |
453 | G>D | No |
ClinGen TOPMed |
|
|
rs559088429 CA369060572 |
453 | G>V | No |
ClinGen TOPMed |
|
| COSM4856520 | 455 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs746657002 CA4463332 |
457 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA369060474 rs1183886082 |
457 | T>I | No |
ClinGen TOPMed |
|
|
CA369060456 rs1249485286 |
458 | P>Q | No |
ClinGen gnomAD |
|
|
rs1180860480 CA369060421 |
460 | T>A | No |
ClinGen gnomAD |
|
|
CA166038003 rs1037305447 |
460 | T>I | No |
ClinGen TOPMed |
|
|
CA369060380 rs1169595728 |
461 | P>H | No |
ClinGen TOPMed |
|
|
rs1234263969 CA369060396 |
461 | P>T | No |
ClinGen gnomAD |
|
|
CA166038000 rs1012963373 |
462 | A>P | No |
ClinGen TOPMed |
|
|
rs1012963373 CA166038002 |
462 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4463331 rs777504178 |
463 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA166037997 rs894546801 |
463 | P>S | No |
ClinGen TOPMed |
|
|
rs1451440442 CA369060316 |
464 | T>I | No |
ClinGen gnomAD |
|
|
CA369060307 rs1300853398 |
465 | S>A | No |
ClinGen TOPMed |
|
|
CA166037993 rs868539955 |
469 | G>C | No |
ClinGen Ensembl |
|
|
CA4463330 rs755316083 |
469 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 470 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4463329 rs150382135 CA369060126 |
472 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369060091 rs1229088873 |
473 | E>G | No |
ClinGen gnomAD |
|
|
rs1317450307 CA369060018 |
475 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 481 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195105222 CA369057728 |
486 | D>G | No |
ClinGen gnomAD |
|
|
rs1448110155 CA369057687 |
488 | D>N | No |
ClinGen gnomAD |
|
|
rs1247773591 CA369057617 |
491 | E>Q | No |
ClinGen gnomAD |
|
| COSM1084944 | 492 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs201536626 CA4463279 |
494 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs750895037 | 495 | E>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1015881630 CA166036544 |
495 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA369057507 rs1254721993 |
496 | D>Y | No |
ClinGen gnomAD |
|
|
rs765077591 CA4463277 |
499 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369057296 rs1226426436 |
504 | E>D | No |
ClinGen gnomAD |
|
| COSM1447703 | 504 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA4463275 rs759189123 |
505 | D>Y | No |
ClinGen ExAC gnomAD |
No associated diseases with O00401
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11202 | SPROUTY-RELATED, EVH1 DOMAIN-CONTAINING PROTEIN FAMILY MEMBER |
| PANTHER Subfamily | PTHR11202:SF36 | NEURAL WISKOTT-ALDRICH SYNDROME PROTEIN |
| PANTHER Protein Class | scaffold/adaptor protein | |
| PANTHER Pathway Category |
Huntington disease N-Wasp Cytoskeletal regulation by Rho GTPase N-WASP |
|
12 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cap | Polarized accumulation of cytoskeletal proteins (including F-actin) and regulatory proteins in a cell. An example of this is the actin cap found in Saccharomyces cerevisiae. |
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endocytic vesicle membrane | The lipid bilayer surrounding an endocytic vesicle. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 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. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
18 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament polymerization | Assembly of actin filaments by the addition of actin monomers to a filament. |
| actin polymerization or depolymerization | Assembly or disassembly of actin filaments by the addition or removal of actin monomers from a filament. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| dendritic spine morphogenesis | The process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
| negative regulation of lymphocyte migration | Any process that stops, prevents or reduces the frequency, rate or extent of lymphocyte migration. |
| negative regulation of membrane tubulation | Any process that stops, prevents or reduces the frequency, rate or extent of membrane tubulation. |
| positive regulation of clathrin-dependent endocytosis | Any process that activates or increases the frequency, rate or extent of clathrin-mediated endocytosis. |
| positive regulation of filopodium assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone. |
| 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. |
| protein-containing complex localization | A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. |
| regulation of postsynapse organization | Any process that modulates the physical form of a postsynapse. |
| regulation of protein localization | Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. |
| response to bacterium | 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 stimulus from a bacterium. |
| spindle localization | Any process in which is the spindle is transported to, and/or maintained in, a specific location. |
| vesicle budding from membrane | The evagination of a membrane, resulting in formation of a vesicle. |
| vesicle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. |
| vesicle transport along actin filament | Movement of a vesicle along an actin filament, mediated by motor proteins. |
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 |
| P42768 | WAS | Wiskott-Aldrich syndrome protein | 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 |
| MSSVQQQPPP | PRRVTNVGSL | LLTPQENESL | FTFLGKKCVT | MSSAVVQLYA | ADRNCMWSKK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CSGVACLVKD | NPQRSYFLRI | FDIKDGKLLW | EQELYNNFVY | NSPRGYFHTF | AGDTCQVALN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FANEEEAKKF | RKAVTDLLGR | RQRKSEKRRD | PPNGPNLPMA | TVDIKNPEIT | TNRFYGPQVN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NISHTKEKKK | GKAKKKRLTK | ADIGTPSNFQ | HIGHVGWDPN | TGFDLNNLDP | ELKNLFDMCG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ISEAQLKDRE | TSKVIYDFIE | KTGGVEAVKN | ELRRQAPPPP | PPSRGGPPPP | PPPPHNSGPP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PPPARGRGAP | PPPPSRAPTA | APPPPPPSRP | SVAVPPPPPN | RMYPPPPPAL | PSSAPSGPPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PPPSVLGVGP | VAPPPPPPPP | PPPGPPPPPG | LPSDGDHQVP | TTAGNKAALL | DQIREGAQLK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KVEQNSRPVS | CSGRDALLDQ | IRQGIQLKSV | ADGQESTPPT | PAPTSGIVGA | LMEVMQKRSK |
| 490 | 500 | ||||
| AIHSSDEDED | EDDEEDFEDD | DEWED |