Gene Gene information from NCBI Gene database.
Entrez ID 57522
Gene name SLIT-ROBO Rho GTPase activating protein 1
Gene symbol SRGAP1
Synonyms (NCBI Gene)
ARHGAP13NMTC2
Chromosome 12
Chromosome location 12q14.2
Summary The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs797044990 G>A Pathogenic Missense variant, coding sequence variant
rs1208074975 G>A,T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
1709
miRTarBase ID miRNA Experiments Reference
MIRT005810 hsa-miR-145-5p In situ hybridizationLuciferase reporter assayqRT-PCRwestern blot 21276775
MIRT005811 hsa-miR-214-3p In situ hybridizationLuciferase reporter assayqRT-PCRwestern blot 21276775
MIRT018618 hsa-miR-335-5p Microarray 18185580
MIRT023976 hsa-miR-1-3p Proteomics 18668040
MIRT037797 hsa-miR-92b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005096 Function GTPase activator activity IEA
GO:0005096 Function GTPase activator activity TAS
GO:0005515 Function Protein binding IPI 15161933, 17500595, 25150978, 28514442, 33961781, 35271311
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606523 17382 ENSG00000196935
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6B7
Protein name SLIT-ROBO Rho GTPase-activating protein 1 (srGAP1) (Rho GTPase-activating protein 13)
Protein function GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00611 FCH 31 116 Fes/CIP4, and EFC/F-BAR homology domain Family
PF00620 RhoGAP 520 672 RhoGAP domain Domain
PF00018 SH3_1 749 794 SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, lung, kidney, and testis. {ECO:0000269|PubMed:11672528}.
Sequence
MSTPSRFKKDKEIIAEYESQVKEIRAQLVEQQKCLEQQTEMRVQLLQDLQDFFRKKAEIE
TEYSRNLEKLAERFMAKTRSTKDHQQYKKDQNLLSPVNCWYLLLNQVRRESKDHAT
LSDI
YLNNVIMRFMQISEDSTRMFKKSKEIAFQLHEDLMKVLNELYTVMKTYHMYHAESISAES
KLKEAEKQEEKQIGRSGDPVFHIRLEERHQRRSSVKKIEKMKEKRQAKYSENKLKSIKAR
NEYLLTLEATNASVFKYYIHDLSDLIDCCDLGYHASLNRALRTYLSAEYNLETSRHEGLD
IIENAVDNLEPRSDKQRFMEMYPAAFCPPMKFEFQSHMGDEVCQVSAQQPVQAELMLRYQ
QLQSRLATLKIENEEVKKTTEATLQTIQDMVTIEDYDVSECFQHSRSTESVKSTVSETYL
SKPSIAKRRANQQETEQFYFMKLREYLEGSNLITKLQAKHDLLQRTLGEGHRAEYMTTRP
PNVPPKPQKHRKSRPRSQYNTKLFNGDLETFVKDSGQVIPLIVESCIRFINLYGLQHQGI
FRVSGSQVEVNDIKNSFERGENPLADDQSNHDINSVAGVLKLYFRGLENPLFPKERFNDL
ISCIRIDNLYERALHIRKLLLTLPRSVLIVMRYLFAFLNHLSQYSDENMMDPYNLAICFG
PTLMPVPEIQDQ
VSCQAHVNEIIKTIIIHHETIFPDAKELDGPVYEKCMAGDDYCDSPYS
EHGTLEEVDQDAGTEPHTSEDECEPIEAIAKFDYVGRSARELSFKKGASLLLYHRASEDW
WEGRHNGIDGLVPH
QYIVVQDMDDTFSDTLSQKADSEASSGPVTEDKSSSKDMNSPTDRH
PDGYLARQRKRGEPPPPVRRPGRTSDGHCPLHPPHALSNSSVDLGSPSLASHPRGLLQNR
GLNNDSPERRRRPGHGSLTNISRHDSLKKIDSPPIRRSTSSGQYTGFNDHKPLDPETIAQ
DIEETMNTALNELRELERQSTAKHAPDVVLDTLEQVKNSPTPATSTESLSPLHNVALRSS
EPQIRRSTSSSSDTMSTFKPMVAPRMGVQLKPPALRPKPAVLPKTNPTIGPAPPPQGPTD
KSCTM
Sequence length 1085
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   Rho GTPase cycle
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
30
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thyroid cancer, nonmedullary, 2 Pathogenic rs797044990 RCV000190472
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital anomalies of kidney and urinary tract 1 Uncertain significance rs1592332125 RCV001254691
Congenital anomaly of kidney and urinary tract Uncertain significance rs1208074975, rs1592332125, rs748723181 RCV000845117
RCV000845118
RCV001328151
Familial cancer of breast Likely benign rs115343529 RCV005902612
Nephronophthisis Uncertain significance rs1208074975 RCV001254705
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Ovarian Epithelial Associate 25134534
Colorectal Neoplasms Inhibit 27923383
Neoplasms Inhibit 27923383
Thyroid Cancer Papillary Associate 23539728
Thyroid Neoplasms Associate 27530615