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

Gene ID: 23616, updated on 1-Jun-2020

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

Genomic context

See SH3BP1 in Genome Data Viewer
Location:
22q13.1
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37639669..37656117)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38030661..38052119)

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

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, ENST00000649765.1
    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.

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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