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    SH3BP5 SH3 domain binding protein 5 [ Homo sapiens (human) ]

    Gene ID: 9467, updated on 17-Jun-2024

    Summary

    Official Symbol
    SH3BP5provided by HGNC
    Official Full Name
    SH3 domain binding protein 5provided by HGNC
    Primary source
    HGNC:HGNC:10827
    See related
    Ensembl:ENSG00000131370 MIM:605612; AllianceGenome:HGNC:10827
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SAB; SH3BP-5
    Summary
    Enables guanyl-nucleotide exchange factor activity and protein kinase inhibitor activity. Acts upstream of or within intracellular signal transduction. Located in cytoplasmic vesicle membrane and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal (RPKM 64.1), fat (RPKM 35.1) and 24 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SH3BP5 in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (15254353..15341380, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (15256759..15343784, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15295860..15382887, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene collagen type VI alpha 4 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14101 Neighboring gene calpain 7 Neighboring gene SH3BP5 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:15309450-15309989 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:15309990-15310528 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:15310708-15311907 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:15329844-15330019 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14103 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14104 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14105 Neighboring gene uncharacterized LOC124909348 Neighboring gene RNA, U6 small nuclear 454, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14106 Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 7

    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
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    EBI GWAS Catalog
    Genome-wide association study of alcohol dependence implicates KIAA0040 on chromosome 1q.
    EBI GWAS Catalog
    Genome-wide search for replicable risk gene regions in alcohol and nicotine co-dependence.
    EBI GWAS Catalog

    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 SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasmic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    SH3 domain-binding protein 5
    Names
    SH3 domain-binding protein that preferentially associates with BTK
    SH3-domain binding protein 5 (BTK-associated)

    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.

    mRNA and Protein(s)

    1. NM_001018009.4NP_001018009.2  SH3 domain-binding protein 5 isoform b

      See identical proteins and their annotated locations for NP_001018009.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, uses an alternate internal splice site and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AB005047, BC006169, BG475051, CA429664
      Consensus CDS
      CCDS43055.1
      Related
      ENSP00000386231.3, ENST00000408919.7
      Conserved Domains (1) summary
      pfam05276
      Location:1112
      SH3BP5; SH3 domain-binding protein 5 (SH3BP5)
    2. NM_004844.5NP_004835.2  SH3 domain-binding protein 5 isoform a

      See identical proteins and their annotated locations for NP_004835.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB005047, BP308415, CA429664
      Consensus CDS
      CCDS2625.2
      UniProtKB/Swiss-Prot
      B3KQW6, O60239, Q5JWV9
      UniProtKB/TrEMBL
      B2R7Y8
      Related
      ENSP00000373301.3, ENST00000383791.8
      Conserved Domains (1) summary
      pfam05276
      Location:41269
      SH3BP5; SH3 domain-binding protein 5 (SH3BP5)

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      15254353..15341380 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449242.1XP_047305198.1  SH3 domain-binding protein 5 isoform X4

    2. XM_011534251.3XP_011532553.1  SH3 domain-binding protein 5 isoform X2

      UniProtKB/TrEMBL
      B2R7Y8
      Conserved Domains (1) summary
      pfam05276
      Location:5227
      SH3BP5; SH3 domain-binding protein 5 (SH3BP5)
    3. XM_047449240.1XP_047305196.1  SH3 domain-binding protein 5 isoform X1

      UniProtKB/TrEMBL
      B2R7Y8
    4. XM_017007525.2XP_016863014.2  SH3 domain-binding protein 5 isoform X5

      UniProtKB/TrEMBL
      B2R7Y8
    5. XM_047449241.1XP_047305197.1  SH3 domain-binding protein 5 isoform X3

    6. XM_047449244.1XP_047305200.1  SH3 domain-binding protein 5 isoform X6

      Related
      ENSP00000388553.1, ENST00000426925.5
    7. XM_047449245.1XP_047305201.1  SH3 domain-binding protein 5 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      15256759..15343784 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054348453.1XP_054204428.1  SH3 domain-binding protein 5 isoform X4

    2. XM_054348451.1XP_054204426.1  SH3 domain-binding protein 5 isoform X2

      UniProtKB/TrEMBL
      B2R7Y8
    3. XM_054348455.1XP_054204430.1  SH3 domain-binding protein 5 isoform X6

    4. XM_054348452.1XP_054204427.1  SH3 domain-binding protein 5 isoform X3

    5. XM_054348450.1XP_054204425.1  SH3 domain-binding protein 5 isoform X1

      UniProtKB/TrEMBL
      B2R7Y8
    6. XM_054348454.1XP_054204429.1  SH3 domain-binding protein 5 isoform X6