U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 23677, updated on 3-Apr-2024

    Summary

    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; AllianceGenome:HGNC:10826
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    2q37.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (234952017..235055714)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (235441072..235544683)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (235860661..235964358)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373937 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235810653-235811216 Neighboring gene uncharacterized LOC105373938 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235840873-235841418 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:235843604-235844104 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:235861114-235861763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:235873459-235874021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235882781-235883348 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235883349-235883916 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235883917-235884484 Neighboring gene uncharacterized LOC105373939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235885570-235886122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235888982-235889719 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr2:235892104-235892818 and GRCh37_chr2:235892819-235893532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235899889-235900660 Neighboring gene Sharpr-MPRA regulatory region 6611 Neighboring gene Sharpr-MPRA regulatory region 6657 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235907423-235908052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:235908168-235908844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235911298-235912136 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235913425-235914014 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235914015-235914602 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235914603-235915192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:235916550-235917186 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235920146-235920722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235920723-235921298 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:235921299-235921875 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:235939804-235940432 Neighboring gene OCT4 hESC enhancer GRCh37_chr2:235952107-235952608 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:235960919-235961880 Neighboring gene Sharpr-MPRA regulatory region 15714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:235970623-235971123 Neighboring gene Sharpr-MPRA regulatory region 6954 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:235991995-235993194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:235996100-235996600 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:236022675-236023222 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:236035311-236035906 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:236045748-236045962 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:236066308-236066890 Neighboring gene CEP19 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:236080141-236080327 Neighboring gene uncharacterized LOC124907998

    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?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GDP-dissociation inhibitor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated pit IEA
    Inferred from Electronic Annotation
    more info
     
    located_in clathrin-coated vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    SH3 domain-binding protein 4
    Names
    EH-binding protein 10
    transferrin receptor-trafficking protein

    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_033930.1 RefSeqGene

      Range
      5034..108731
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001371302.1NP_001358231.1  SH3 domain-binding protein 4

      Status: REVIEWED

      Source sequence(s)
      AC010148, AC114814
      Consensus CDS
      CCDS2513.1
      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
      UniProtKB/TrEMBL
      A8K594
      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. NM_001371303.1NP_001358232.1  SH3 domain-binding protein 4

      Status: REVIEWED

      Source sequence(s)
      AC010148, AC114814
      Consensus CDS
      CCDS2513.1
      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
      UniProtKB/TrEMBL
      A8K594
      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. NM_001371304.1NP_001358233.1  SH3 domain-binding protein 4

      Status: REVIEWED

      Source sequence(s)
      AC010148, AC114814
      Consensus CDS
      CCDS2513.1
      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
      UniProtKB/TrEMBL
      A8K594
      Related
      ENSP00000340237.4, ENST00000344528.8
      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. NM_001371305.1NP_001358234.1  SH3 domain-binding protein 4

      Status: REVIEWED

      Source sequence(s)
      AC010148, AC114814
      Consensus CDS
      CCDS2513.1
      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
      UniProtKB/TrEMBL
      A8K594
      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
    5. NM_001371306.1NP_001358235.1  SH3 domain-binding protein 4

      Status: REVIEWED

      Source sequence(s)
      AC010148, AC114814
      Consensus CDS
      CCDS2513.1
      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
      UniProtKB/TrEMBL
      A8K594
      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
    6. NM_014521.3NP_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
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
      UniProtKB/TrEMBL
      A8K594
      Related
      ENSP00000375867.2, ENST00000392011.7
      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: 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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      234952017..235055714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443849.1XP_047299805.1  SH3 domain-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
    2. XM_047443850.1XP_047299806.1  SH3 domain-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
      Related
      ENSP00000386862.1, ENST00000409212.5
    3. XM_047443851.1XP_047299807.1  SH3 domain-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
    4. XM_047443848.1XP_047299804.1  SH3 domain-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
    5. XM_011510893.2XP_011509195.1  SH3 domain-binding protein 4 isoform X1

      See identical proteins and their annotated locations for XP_011509195.1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
      UniProtKB/TrEMBL
      A8K594
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      235441072..235544683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054341233.1XP_054197208.1  SH3 domain-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
    2. XM_054341234.1XP_054197209.1  SH3 domain-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
    3. XM_054341236.1XP_054197211.1  SH3 domain-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
    4. XM_054341232.1XP_054197207.1  SH3 domain-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3
    5. XM_054341235.1XP_054197210.1  SH3 domain-binding protein 4 isoform X1

      UniProtKB/Swiss-Prot
      O95082, Q309A3, Q53QD0, Q53TD1, Q9P0V3