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SH3BP4 SH3 domain binding protein 4 [ Homo sapiens (human) ]

Gene ID: 23677, updated on 12-Aug-2018
Official Symbol
SH3BP4provided by HGNC
Official Full Name
SH3 domain binding protein 4provided by HGNC
Primary source
HGNC:HGNC:10826
See related
Ensembl:ENSG00000130147 MIM:605611; Vega:OTTHUMG00000133292
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
TTP; BOG25
Summary
This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in salivary gland (RPKM 12.0), gall bladder (RPKM 8.4) and 24 other tissues See more
Orthologs
See SH3BP4 in Genome Data Viewer
Location:
2q37.2
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (234951984..235055714)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (235860628..235964358)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373937 Neighboring gene uncharacterized LOC105373938 Neighboring gene uncharacterized LOC105373939 Neighboring gene centrosomal protein 19kDa pseudogene Neighboring gene uncharacterized LOC105373940

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
NHGRI GWA Catalog
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Nef nef Genome-wide shRNA screening identifies SH3BP4, which is required for HIV-1 Nef-induced downregulation of CD4 in HeLa CD4+ cells PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP-dissociation inhibitor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Ras GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
NOT amino acid import IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to amino acid stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of catalytic activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
clathrin-coated pit IEA
Inferred from Electronic Annotation
more info
 
clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
SH3 domain-binding protein 4
Names
EH-binding protein 10
transferrin receptor-trafficking protein

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_033930.1 RefSeqGene

    Range
    5001..108731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014521.2NP_055336.1  SH3 domain-binding protein 4

    See identical proteins and their annotated locations for NP_055336.1

    Status: REVIEWED

    Source sequence(s)
    AF147747, BC057396
    Consensus CDS
    CCDS2513.1
    UniProtKB/Swiss-Prot
    Q9P0V3
    Related
    ENSP00000375867.2, OTTHUMP00000164396, ENST00000392011.6, OTTHUMT00000257074
    Conserved Domains (3) summary
    cd11757
    Location:59110
    SH3_SH3BP4; Src Homology 3 domain of SH3 domain-binding protein 4
    pfam07653
    Location:658722
    SH3_2; Variant SH3 domain
    cl02517
    Location:324404
    ZU5; ZU5 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    234951984..235055714
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510894.2XP_011509196.1  SH3 domain-binding protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011509196.1

    UniProtKB/Swiss-Prot
    Q9P0V3
    Conserved Domains (3) summary
    cd11757
    Location:59110
    SH3_SH3BP4; Src Homology 3 domain of SH3 domain-binding protein 4
    pfam07653
    Location:658722
    SH3_2; Variant SH3 domain
    cl02517
    Location:324404
    ZU5; ZU5 domain
  2. XM_011510892.1XP_011509194.1  SH3 domain-binding protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011509194.1

    UniProtKB/Swiss-Prot
    Q9P0V3
    Related
    ENSP00000340237.4, OTTHUMP00000203217, ENST00000344528.8, OTTHUMT00000329764
    Conserved Domains (3) summary
    cd11757
    Location:59110
    SH3_SH3BP4; Src Homology 3 domain of SH3 domain-binding protein 4
    pfam07653
    Location:658722
    SH3_2; Variant SH3 domain
    cl02517
    Location:324404
    ZU5; ZU5 domain
  3. XM_011510891.2XP_011509193.1  SH3 domain-binding protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011509193.1

    UniProtKB/Swiss-Prot
    Q9P0V3
    Conserved Domains (3) summary
    cd11757
    Location:59110
    SH3_SH3BP4; Src Homology 3 domain of SH3 domain-binding protein 4
    pfam07653
    Location:658722
    SH3_2; Variant SH3 domain
    cl02517
    Location:324404
    ZU5; ZU5 domain
  4. XM_011510893.1XP_011509195.1  SH3 domain-binding protein 4 isoform X1

    See identical proteins and their annotated locations for XP_011509195.1

    UniProtKB/Swiss-Prot
    Q9P0V3
    Conserved Domains (3) summary
    cd11757
    Location:59110
    SH3_SH3BP4; Src Homology 3 domain of SH3 domain-binding protein 4
    pfam07653
    Location:658722
    SH3_2; Variant SH3 domain
    cl02517
    Location:324404
    ZU5; ZU5 domain
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