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

Gene ID: 57522, updated on 5-Mar-2024

Summary

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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; AllianceGenome:HGNC:17382
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
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Genomic context

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See SRGAP1 in Genome Data Viewer
Location:
12q14.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (63844700..64162217)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (63823410..64141021)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (64238480..64555997)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribitol xylosyltransferase 1 Neighboring gene RXYLT1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:64237485-64237986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:64237987-64238486 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 4 Neighboring gene microRNA 10527 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:64264449-64265038 Neighboring gene MIA SH3 domain ER export factor 2 pseudogene Neighboring gene ribosomal protein L36a pseudogene 41 Neighboring gene MPRA-validated peak1758 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:64312638-64313426 Neighboring gene uncharacterized LOC105369801 Neighboring gene Sharpr-MPRA regulatory region 2861 Neighboring gene uncharacterized LOC105369798 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:64574933-64576132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6586 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:64589609-64590204 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:64608983-64609180 Neighboring gene RNA, U6 small nuclear 1009, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6587 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6588 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:64615884-64616478 Neighboring gene uncharacterized LOC124902952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6591 Neighboring gene KICSTOR subunit 2 Neighboring gene RNA, U5A small nuclear 7, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. srGAP1 mediates the migration inhibition effect of Slit2-Robo1 in colorectal cancer. Feng Y, et al. J Exp Clin Cancer Res, 2016 Dec 7. PMID 27923383, Free PMC Article
  2. SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility. He H, et al. J Clin Endocrinol Metab, 2013 May. PMID 23539728, Free PMC Article
  3. Identification of SRGAP2 as a potential oncogene and a prognostic biomarker in hepatocellular carcinoma. Li Y, et al. Life Sci, 2021 Jul 15. PMID 33984363
  4. Regulated recruitment of SRGAP1 modulates RhoA signaling for contractility during epithelial junction maturation. Liang X, et al. Cytoskeleton (Hoboken), 2018 Feb. PMID 29160905
  5. MicroRNA-145 Promotes the Phenotype of Human Glioblastoma Cells Selected for Invasion. Koo S, et al. Anticancer Res, 2015 Jun. PMID 26026080

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of SRGAP2 as a potential oncogene and a prognostic biomarker in hepatocellular carcinoma.
    Title: Identification of SRGAP2 as a potential oncogene and a prognostic biomarker in hepatocellular carcinoma.
  2. the RhoA antagonist, SRGAP1, is present at subconfluent junctions to a greater extent than in confluent cultures and SRGAP1 RNAi restores RhoA signaling and contractility in subconfluent cultures to levels seen in confluent cells.
    Title: Regulated recruitment of SRGAP1 modulates RhoA signaling for contractility during epithelial junction maturation.
  3. High SRGAP1 expression is associated with gastric tumorigenesis.
    Title: SRGAP1, a crucial target of miR-340 and miR-124, functions as a potential oncogene in gastric tumorigenesis.
  4. Results show that the protein expression of srGAP1 is remarkably decreased in 47.5% of colorectal cancer (CRC) tissues compared and is found to be associated with tumor progression and poor prognosis.
    Title: srGAP1 mediates the migration inhibition effect of Slit2-Robo1 in colorectal cancer.
  5. we identified a consistently replicated loci at 12q14.2 (rs11175194 in SRGAP1, P(meta) = 1.14 x 10(-7))
    Title: Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
  6. Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
    Title: Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
  7. The elevated miR-145 present in invasive glioblastoma cells (IM3 cells) targets and down-regulated srGAP1, thereby allowing downstream G-proteins to remain in their active state and promote the observed invasive phenotype
    Title: MicroRNA-145 Promotes the Phenotype of Human Glioblastoma Cells Selected for Invasion.
  8. The interaction of betaPix with srGAP1 is critical for maintaining suppressive crosstalk between Cdc42 and RhoA during 3D collagen migration.
    Title: An extracellular-matrix-specific GEF-GAP interaction regulates Rho GTPase crosstalk for 3D collagen migration.
  9. Data indicate that srGAP1 possesses a GAP activity specific to Rac1 and is recruited to lamellipodia in a Rac1-dependent manner.
    Title: srGAP1 regulates lamellipodial dynamics and cell migratory behavior by modulating Rac1 activity.
  10. genome-wide linkage analysis in populations in Ohio and Poland: Data suggest that missense mutations in SRGAP1 are associated with genetic predisposition to papillary thyroid carcinoma.
    Title: SRGAP1 is a candidate gene for papillary thyroid carcinoma susceptibility.
Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Thyroid cancer, nonmedullary, 2
MedGen: C4225426 OMIM: 188470 GeneReviews: Not available
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22166, KIAA1304

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_051659.2 RefSeqGene

    Range
    5002..322519
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001346201.2 → NP_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
    Consensus CDS
    CCDS91718.1
    UniProtKB/TrEMBL
    A0A2X0SFI2
    Related
    ENSP00000485752.2, ENST00000631006.3
    Conserved Domains (4) summary
    cd07683
    Location:26 → 278
    F-BAR_srGAP1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Protein 1
    cd11955
    Location:724 → 776
    SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
    cd04383
    Location:482 → 666
    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 contain an ...
    pfam03867
    Location:960 → 1059
    FTZ; Fushi tarazu (FTZ), N-terminal region

  2. NM_020762.4 → NP_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, Q9H8A3, Q9P2P2
    UniProtKB/TrEMBL
    A0A2X0SFI2
    Related
    ENSP00000347198.3, ENST00000355086.8
    Conserved Domains (3) summary
    cd07683
    Location:26 → 278
    F-BAR_srGAP1; The F-BAR (FES-CIP4 Homology and Bin/Amphiphysin/Rvs) domain of Slit-Robo GTPase Activating Protein 1
    cd11955
    Location:747 → 799
    SH3_srGAP1-3; Src homology 3 domain of Slit-Robo GTPase Activating Proteins 1, 2, and 3
    cd04383
    Location:502 → 689
    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 contain an ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    63844700..64162217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024449096.2 → XP_024304864.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform X1

    Conserved Domains (1) summary
    cl12013
    Location:26 → 278
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

  2. XM_024449097.2 → XP_024304865.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform X2

    Conserved Domains (1) summary
    cl12013
    Location:26 → 278
    BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    63823410..64141021
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054372644.1 → XP_054228619.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform X1

  2. XM_054372645.1 → XP_054228620.1  SLIT-ROBO Rho GTPase-activating protein 1 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z6B7.1 GenPept UniProtKB/Swiss-Prot:Q7Z6B7

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