Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57522
Gene name Gene Name - the full gene name approved by the HGNC.
SLIT-ROBO Rho GTPase activating protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SRGAP1
Synonyms (NCBI Gene) Gene synonyms aliases
ARHGAP13, NMTC2
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q14.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005810 hsa-miR-145-5p In situ hybridization, Luciferase reporter assay, qRT-PCR, western blot 21276775
MIRT005811 hsa-miR-214-3p In situ hybridization, Luciferase reporter assay, qRT-PCR, western 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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606523 17382 ENSG00000196935
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Thyroid cancer thyroid cancer, nonmedullary, 2 rs797044990 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Congenital anomalies of kidney and urinary tract Congenital anomaly of kidney and urinary tract, Congenital anomalies of kidney and urinary tract 1 N/A N/A ClinVar
Nephronophthisis nephronophthisis N/A N/A ClinVar
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Associations from Text Mining Disease 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