WASF1
Summary: The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| WAS protein family member 1 | MIM:605035 | Ensembl:ENSG00000112290 | HGNC:HGNC:12732 | PA37343 | 6q21 |
GO terms in WASF1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005741 | mitochondrial outer membrane |
| CC | TAS | GO:0005856 | cytoskeleton |
| CC | IEA | GO:0005925 | focal adhesion |
| CC | TAS | GO:0015629 | actin cytoskeleton |
| CC | IEA | GO:0030027 | lamellipodium |
| CC | IMP | GO:0031209 | SCAR complex |
| CC | IDA | GO:0032991 | protein-containing complex |
| CC | IEA | GO:0045202 | synapse |
| BP | ISS | GO:0006898 | receptor-mediated endocytosis |
| BP | IMP | GO:0016601 | Rac protein signal transduction |
| BP | TAS | GO:0030041 | actin filament polymerization |
| BP | IEA | GO:0051388 | positive regulation of neurotrophin TRK receptor signaling pathway |
| BP | NAS | GO:0065003 | protein-containing complex assembly |
| BP | IEA | GO:0072673 | lamellipodium morphogenesis |
| BP | IEA | GO:0097484 | dendrite extension |
| BP | ISS | GO:1990416 | cellular response to brain-derived neurotrophic factor stimulus |
| BP | IMP | GO:2000601 | positive regulation of Arp2/3 complex-mediated actin nucleation |
| MF | IEA | GO:0003779 | actin binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IMP | GO:0044877 | protein-containing complex binding |
| MF | IMP | GO:0048365 | Rac GTPase binding |
| MF | IPI | GO:0051018 | protein kinase A binding |
Gene expression in normal tissue: WASF1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in WASF1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-194138 | Signaling by VEGF |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-195258 | RHO GTPase Effectors |
| reactome | R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| reactome | R-HSA-2029480 | Fcgamma receptor (FCGR) dependent phagocytosis |
| reactome | R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| reactome | R-HSA-2029482 | Regulation of actin dynamics for phagocytic cup formation |
| reactome | R-HSA-4420097 | VEGFA-VEGFR2 Pathway |
| reactome | R-HSA-5663213 | RHO GTPases Activate WASPs and WAVEs |
| reactome | R-HSA-5663213 | RHO GTPases Activate WASPs and WAVEs |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
| biocarta | rac1pathway | rac1 cell motility signaling pathway |
| biocarta | salmonellapathway | how does salmonella hijack a cell |
| pid | e2f_pathway | E2F transcription factor network |
| pid | rac1_pathway | RAC1 signaling pathway |
| kegg | hsa04520 | Adherens junction - Homo sapiens (human) |
| kegg | hsa04666 | Fc gamma R-mediated phagocytosis - Homo sapiens (human) |
| kegg | hsa04810 | Regulation of actin cytoskeleton - Homo sapiens (human) |
| kegg | hsa05100 | Bacterial invasion of epithelial cells - Homo sapiens (human) |
| kegg | hsa05131 | Shigellosis - Homo sapiens (human) |
| kegg | hsa05132 | Salmonella infection - Homo sapiens (human) |
| kegg | hsa05231 | Choline metabolism in cancer - Homo sapiens (human) |
| wikipathways | WP3888 | VEGFA-VEGFR2 Signaling Pathway |
| wikipathways | WP51 | Regulation of Actin Cytoskeleton |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in WASF1
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