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

Gene ID: 9467, updated on 27-Nov-2024

Summary

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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, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 64.1), fat (RPKM 35.1) and 24 other tissues See more
Orthologs
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Genomic context

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See SH3BP5 in Genome Data Viewer
Location:
3p25.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (15254353..15341380, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (15256759..15343784, complement)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Sab concentrations indicate chemotherapeutic susceptibility in ovarian cancer cell lines. Paudel I, et al. Biochem J, 2018 Nov 15. PMID 30322886
  2. Novel blood-based hypomethylation of SH3BP5 is associated with very early-stage lung adenocarcinoma. Qiao R, et al. Genes Genomics, 2022 Apr. PMID 34783986
  3. Sab (SH3BP5), a novel mitochondria-localized JNK-interacting protein. Wiltshire C, et al. Biochem Soc Trans, 2004 Dec. PMID 15506969
  4. Elevated SH3BP5 Correlates with Poor Outcome and Contributes to the Growth of Acute Myeloid Leukemia Cells. Li M, et al. Biomolecules, 2019 Sep 19. PMID 31546831, Free PMC Article
  5. Sab (Sh3bp5) dependence of JNK mediated inhibition of mitochondrial respiration in palmitic acid induced hepatocyte lipotoxicity. Win S, et al. J Hepatol, 2015 Jun. PMID 25666017, Free PMC Article

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. METTL3 suppresses invasion of lung cancer via SH3BP5 m6A modification.
    Title: METTL3 suppresses invasion of lung cancer via SH3BP5 m6A modification.
  2. Novel blood-based hypomethylation of SH3BP5 is associated with very early-stage lung adenocarcinoma.
    Title: Novel blood-based hypomethylation of SH3BP5 is associated with very early-stage lung adenocarcinoma.
  3. Tankyrase regulates epithelial lumen formation via suppression of Rab11 GEFs.
    Title: Tankyrase regulates epithelial lumen formation via suppression of Rab11 GEFs.
  4. trans-Fatty acids facilitate DNA damage-induced apoptosis through the mitochondrial JNK-Sab-ROS positive feedback loop.
    Title: trans-Fatty acids facilitate DNA damage-induced apoptosis through the mitochondrial JNK-Sab-ROS positive feedback loop.
  5. Study found that expression of SH3BP5 was enhanced in acute myeloid leukemia (AML) cells and was negatively correlated with patients survival. Elevated expression of SH3BP5 was an independent prognostic factor for AML patients. Furthermore, SH3BP5-mediated activation of JNK-BAD signaling contributes to the survival of AML cells.
    Title: Elevated SH3BP5 Correlates with Poor Outcome and Contributes to the Growth of Acute Myeloid Leukemia Cells.
  6. SH3 domain binding protein 5 (Sab) expression is reduced in ovarian cancer (OC), suggesting that Sab may be a prognostic biomarker to discern personalized treatments for OC patients.
    Title: Sab concentrations indicate chemotherapeutic susceptibility in ovarian cancer cell lines.
  7. SH3BP5, LMO3, and SNAP25 were expressed in diffuse large B-cell lymphoma cells and associated with clinical features.
    Title: Expressions of SH3BP5, LMO3, and SNAP25 in diffuse large B-cell lymphoma cells and their association with clinical features.
  8. REI/SH3BP5 protein family is conserved in evolution and is a group of new guanine nucleotide exchange factors for Rab11.
    Title: REI/SH3BP5 protein family: New GEFs for Rab11.
  9. The interplay of p-JNK with mitochondrial Sab leads to impaired respiration, ROS production, sustained JNK activation, and apoptosis.
    Title: Sab (Sh3bp5) dependence of JNK mediated inhibition of mitochondrial respiration in palmitic acid induced hepatocyte lipotoxicity.
  10. SH3BP5 binds to JNK and directly inhibits JNK through its two putative mitogen-activated protein kinase interaction motifs (KIMs).
    Title: SH3-binding protein 5 mediates the neuroprotective effect of the secreted bioactive peptide humanin by inhibiting c-Jun NH2-terminal kinase.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

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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)

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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_001018009.4 → NP_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:1 → 112
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)

  2. NM_004844.5 → NP_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:41 → 269
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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_047449242.1 → XP_047305198.1  SH3 domain-binding protein 5 isoform X4

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

    UniProtKB/TrEMBL
    B2R7Y8
    Conserved Domains (1) summary
    pfam05276
    Location:5 → 227
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)

  3. XM_047449240.1 → XP_047305196.1  SH3 domain-binding protein 5 isoform X1

  4. XM_017007525.2 → XP_016863014.2  SH3 domain-binding protein 5 isoform X5

  5. XM_047449241.1 → XP_047305197.1  SH3 domain-binding protein 5 isoform X3

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

    Related
    ENSP00000388553.1, ENST00000426925.5

  7. XM_047449245.1 → XP_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_054348453.1 → XP_054204428.1  SH3 domain-binding protein 5 isoform X4

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

  3. XM_054348455.1 → XP_054204430.1  SH3 domain-binding protein 5 isoform X6

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

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

  6. XM_054348454.1 → XP_054204429.1  SH3 domain-binding protein 5 isoform X6

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60239.2 GenPept UniProtKB/Swiss-Prot:O60239

Gene LinkOut

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Chemical Information
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