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SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 [ Homo sapiens (human) ]

Gene ID: 57522, updated on 9-Feb-2020

Summary

Official Symbol
SRGAP1provided by HGNC
Official Full Name
SLIT-ROBO Rho GTPase activating protein 1provided by HGNC
Primary source
HGNC:HGNC:17382
See related
Ensembl:ENSG00000196935 MIM:606523
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NMTC2; ARHGAP13
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]
Expression
Ubiquitous expression in testis (RPKM 2.6), thyroid (RPKM 2.5) and 24 other tissues See more
Orthologs

Genomic context

See SRGAP1 in Genome Data Viewer
Location:
12q14.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (63843911..64162217)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (64238276..64541643)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribitol xylosyltransferase 1 Neighboring gene RXYLT1 antisense RNA 1 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 4 Neighboring gene microRNA 10527 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene ribosomal protein L36a pseudogene 41 Neighboring gene uncharacterized LOC105369801 Neighboring gene uncharacterized LOC105369798 Neighboring gene chromosome 12 open reading frame 66 Neighboring gene RNA, U6 small nuclear 1009, pseudogene Neighboring gene RNA, U5A small nuclear 7, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Follicular thyroid carcinoma
MedGen: C4225426 OMIM: 188470 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22166, KIAA1304

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity TAS
Traceable Author Statement
more info
 
Rac GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
negative regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
SLIT-ROBO Rho GTPase-activating protein 1
Names
rho GTPase-activating protein 13

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051659.1 RefSeqGene

    Range
    5001..308111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346201.2NP_001333130.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon and contains another alternate exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC020611, AC025576, AC084357
    UniProtKB/Swiss-Prot
    Q7Z6B7
    Related
    ENSP00000485752.1, ENST00000631006.2
    Conserved Domains (3) summary
    cd07683
    Location:26278
    F-BAR_srGAP1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Protein 1
    cd11955
    Location:724776
    SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
    cd04383
    Location:482666
    RhoGAP_srGAP; RhoGAP_srGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs ...
  2. NM_020762.4NP_065813.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform 1

    See identical proteins and their annotated locations for NP_065813.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC020611, AC025576, AC084357, AI216583, BC053903, DR000178
    Consensus CDS
    CCDS8967.1
    UniProtKB/Swiss-Prot
    Q7Z6B7
    Related
    ENSP00000347198.3, ENST00000355086.8
    Conserved Domains (3) summary
    cd07683
    Location:26278
    F-BAR_srGAP1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Protein 1
    cd11955
    Location:747799
    SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
    cd04383
    Location:502689
    RhoGAP_srGAP; RhoGAP_srGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    63843911..64162217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538580.2XP_011536882.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011536882.1

    Related
    ENSP00000437948.1, ENST00000543397.1
    Conserved Domains (3) summary
    cd11955
    Location:707759
    SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
    cd04383
    Location:462649
    RhoGAP_srGAP; RhoGAP_srGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs ...
    cl12013
    Location:1238
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  2. XM_024449096.1XP_024304864.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform X2

    Conserved Domains (1) summary
    cl12013
    Location:26278
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  3. XM_024449097.1XP_024304865.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform X3

    Conserved Domains (1) summary
    cl12013
    Location:26278
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
  4. XM_011538581.2XP_011536883.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011536883.1

    Conserved Domains (3) summary
    cd11955
    Location:707759
    SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
    cd04383
    Location:462649
    RhoGAP_srGAP; RhoGAP_srGAP: RhoGAP (GTPase-activator protein [GAP] for Rho-like small GTPases) domain present in srGAPs. srGAPs are components of the intracellular part of Slit-Robo signalling pathway that is important for axon guidance and cell migration. srGAPs ...
    cl12013
    Location:1238
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
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