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    SH3BP1 SH3 domain binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 23616, updated on 8-Jul-2021

    Summary

    Official Symbol
    SH3BP1provided by HGNC
    Official Full Name
    SH3 domain binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:10824
    See related
    Ensembl:ENSG00000100092 MIM:617368
    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
    ARHGAP43
    Summary
    This gene encodes a member of the Rho GTPase activating protein (RhoGAP) family. The encoded protein regulates Rac signaling and plays a role in cytoskeletal dynamics, cell motility and epithelial junction formation. This protein's association with the exocyst complex, which tethers secretory vesicles to the plasma membrane, has been demonstrated to be important in cell motility. In a distinct complex, this protein has been shown to regulate epithelial junction formation and morphogenesis. By interacting with the Plexin-D1 cell surface receptor, this protein mediates changes in the cytoskeleton in response to semaphorin binding. This protein may promote metastasis in human liver cancer cells and tissues. [provided by RefSeq, Mar 2017]
    Expression
    Broad expression in spleen (RPKM 13.4), appendix (RPKM 12.6) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SH3BP1 in Genome Data Viewer
    Location:
    22q13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37639669..37656117)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38035676..38052124)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr22.1757 Neighboring gene golgi associated, gamma adaptin ear containing, ARF binding protein 1 Neighboring gene PDXP divergent transcript Neighboring gene pyridoxal phosphatase Neighboring gene RNA, 7SL, cytoplasmic 385, 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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: PDXP

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GTPase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables GTPase activator activity TAS
    Traceable Author Statement
    more info
     
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables semaphorin receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of epithelial cell apical/basal polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of small GTPase mediated signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phagocytosis, engulfment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of GTPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of Rac protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of actin cytoskeleton organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of actin filament depolymerization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    involved_in semaphorin-plexin signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell leading edge IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in lamellipodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in phagocytic cup IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    SH3 domain-binding protein 1
    Names
    3BP-1

    NCBI Reference Sequences (RefSeq)

    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_053097.2 RefSeqGene

      Range
      5195..21645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1154

    mRNA and Protein(s)

    1. NM_001350055.2NP_001336984.1  SH3 domain-binding protein 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region and differs in the 3' UTR compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      HY340971, Z83844
      Conserved Domains (2) summary
      cd07620
      Location:16272
      BAR_SH3BP1; The Bin/Amphiphysin/Rvs (BAR) domain of SH3-domain Binding Protein 1
      cl02570
      Location:272473
      RhoGAP; GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when bound to ...
    2. NM_018957.6NP_061830.3  SH3 domain-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_061830.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA748769, AK126873, BQ005545, BX465097, CR456576
      Consensus CDS
      CCDS13952.2
      UniProtKB/Swiss-Prot
      Q9Y3L3
      Related
      ENSP00000497104.1, ENST00000649765.2
      Conserved Domains (2) summary
      cd07620
      Location:16272
      BAR_SH3BP1; The Bin/Amphiphysin/Rvs (BAR) domain of SH3-domain Binding Protein 1
      cl02570
      Location:272473
      RhoGAP; RhoGAP: GTPase-activator protein (GAP) for Rho-like GTPases; GAPs towards Rho/Rac/Cdc42-like small GTPases. Small GTPases (G proteins) cluster into distinct families, and all act as molecular switches, active in their GTP-bound form but inactive when ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      37639669..37656117
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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