SRGAP1
SLIT-ROBO Rho GTPase Activating Protein 1
Gene Information Card
| Symbol | SRGAP1 |
|---|---|
| Full Name | SLIT-ROBO Rho GTPase Activating Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q14.2 |
| NCBI Gene ID | 57522 ncbi.nlm.nih.gov/gene/57522 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q7Z6B0 |
| OMIM ID | 606523 |
| HGNC ID | 17897 |
| Aliases | ARHGAP13, FLJ20079, KIAA1304, RhoGAP4 |
Description
SRGAP1 encodes a member of the SLIT-ROBO Rho GTPase activating protein family. The protein contains an N-terminal FCH domain, a central RhoGAP domain, and a C-terminal SH3 domain. It functions as a GTPase activator for RhoA and Cdc42, regulating actin cytoskeleton dynamics and cell migration, particularly in neuronal development. SRGAP1 is involved in axon guidance and neuronal migration through the Slit-Robo signaling pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression and potential role in cell migration | COSMIC; PMID: 22962438 |
| Prostate cancer | Copy number alterations and expression changes | COSMIC; PMID: 25997541 |
| Intellectual disability | Rare variants in SRGAP1 associated with neurodevelopmental phenotypes | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Lung | 4.1 | Low |
| Colon | 3.8 | Low |
| Prostate | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 7.1 | Neuroblastoma cell line |
| HEK293 | 5.3 | Embryonic kidney cells |
| HCT116 | 4.9 | Colorectal carcinoma |
| PC3 | 3.2 | Prostate cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1054C>T (p.Arg352Trp) | missense | 0.01% (gnomAD) | Unknown functional effect |
| c.1660G>A (p.Glu554Lys) | missense | 0.005% (gnomAD) | Reported in intellectual disability |
| c.2140_2141del (p.Leu714fs) | frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants predicted to truncate the protein, likely impairing RhoGAP activity.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
Not reported for SRGAP1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Slit-Robo signaling pathway (Reactome: R-HSA-9013408)
• Rho GTPase cycle (Reactome: R-HSA-194840)
• Axon guidance (KEGG: hsa04360)
Protein Summary
SRGAP1 is a 1085-amino acid protein with a molecular weight of approximately 120 kDa. It contains an N-terminal F-BAR domain, a central RhoGAP domain, and a C-terminal SH3 domain. The protein localizes to the cytoplasm and cell membrane, and it inactivates RhoA and Cdc42 by stimulating their GTPase activity. SRGAP1 plays a critical role in neuronal migration and axon guidance by mediating Slit-Robo repulsive signals. It also influences cell morphology and motility in non-neuronal tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRGAP1 Knockout HEK293 Cell Line | EDJ-KQ15508 | Human | 57522 | Details Get a Quote |
| SRGAP1 Knockout HCT 116 Cell Line | EDJ-KQ45080 | Human | 57522 | Details Get a Quote |
| SRGAP1 Knockout A-549 Cell Line | EDJ-KQ46313 | Human | 57522 | Details Get a Quote |
| SRGAP1 Knockout HeLa Cell Line | EDJ-KQ46315 | Human | 57522 | Details Get a Quote |
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