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

    Gene ID: 9467, updated on 14-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
    mouse all
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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 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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    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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