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

Gene ID: 9467, updated on 13-Mar-2020

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
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
Expression
Ubiquitous expression in adrenal (RPKM 64.1), fat (RPKM 35.1) and 24 other tissues See more
Orthologs

Genomic context

See SH3BP5 in Genome Data Viewer
Location:
3p25.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (15254353..15341380, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (15295860..15382901, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene collagen type VI alpha 4 pseudogene 1 Neighboring gene calpain 7 Neighboring gene SH3BP5 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 454, pseudogene Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 7 Neighboring gene methyltransferase like 6

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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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
    UniProtKB/Swiss-Prot
    O60239
    UniProtKB/TrEMBL
    A0A024R2J3
    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
    O60239
    UniProtKB/TrEMBL
    A0A024R2G6
    Related
    ENSP00000373301.3, ENST00000383791.8
    Conserved Domains (1) summary
    pfam05276
    Location:41269
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)

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_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017007525.1XP_016863014.1  SH3 domain-binding protein 5 isoform X3

    UniProtKB/Swiss-Prot
    O60239
    UniProtKB/TrEMBL
    A0A024R2J3
    Conserved Domains (1) summary
    pfam05276
    Location:1112
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)
  2. XM_017007523.2XP_016863012.1  SH3 domain-binding protein 5 isoform X3

    UniProtKB/Swiss-Prot
    O60239
    UniProtKB/TrEMBL
    A0A024R2J3
    Conserved Domains (1) summary
    pfam05276
    Location:1112
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)
  3. XM_017007522.2XP_016863011.1  SH3 domain-binding protein 5 isoform X3

    UniProtKB/Swiss-Prot
    O60239
    UniProtKB/TrEMBL
    A0A024R2J3
    Related
    ENSP00000388553.1, ENST00000426925.5
    Conserved Domains (1) summary
    pfam05276
    Location:1112
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)
  4. XM_017007524.1XP_016863013.1  SH3 domain-binding protein 5 isoform X3

    UniProtKB/Swiss-Prot
    O60239
    UniProtKB/TrEMBL
    A0A024R2J3
    Conserved Domains (1) summary
    pfam05276
    Location:1112
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)
  5. XM_011534251.2XP_011532553.1  SH3 domain-binding protein 5 isoform X2

    Conserved Domains (1) summary
    pfam05276
    Location:5227
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)
  6. XM_017007521.2XP_016863010.1  SH3 domain-binding protein 5 isoform X1

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