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

    Gene ID: 57522, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (63844700..64162217)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (63823410..64141021)
    RS_2024_09 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 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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    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
    		not available

    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)

    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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    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

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