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SH3BP5L SH3 binding domain protein 5 like [ Homo sapiens (human) ]

Gene ID: 80851, updated on 3-Apr-2024

Summary

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Official Symbol
SH3BP5Lprovided by HGNC
Official Full Name
SH3 binding domain protein 5 likeprovided by HGNC
Primary source
HGNC:HGNC:29360
See related
Ensembl:ENSG00000175137 MIM:620652; AllianceGenome:HGNC:29360
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
Summary
Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in intracellular signal transduction and negative regulation of protein tyrosine kinase activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 5.3), brain (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1q44
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (248810446..248825915, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (248248930..248264398, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (249104645..249120114, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DPY19L4 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2048 Neighboring gene uncharacterized LOC124904577 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:249096844-249098043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2049 Neighboring gene Sharpr-MPRA regulatory region 9626 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:249114909-249116108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2875 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:249119908-249120459 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:249120460-249121010 Neighboring gene microRNA 3124 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:249132357-249132858 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:249132859-249133358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2881 Neighboring gene zinc finger protein 672

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. Structural determinants of Rab11 activation by the guanine nucleotide exchange factor SH3BP5. Jenkins ML, et al. Nat Commun, 2018 Sep 14. PMID 30217979, Free PMC Article
  2. Tankyrase regulates epithelial lumen formation via suppression of Rab11 GEFs. Chandrakumar AA, et al. J Cell Biol, 2021 Jul 5. PMID 34128958, Free PMC Article
  3. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Dec 31. PMID 11214970
  4. Comprehensive proteomic analysis of interphase and mitotic 14-3-3-binding proteins. Meek SE, et al. J Biol Chem, 2004 Jul 30. PMID 15161933
  5. Proteomic, functional, and domain-based analysis of in vivo 14-3-3 binding proteins involved in cytoskeletal regulation and cellular organization. Jin J, et al. Curr Biol, 2004 Aug 24. PMID 15324660

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33845, KIAA1720

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
  
Process Evidence Code Pubs
involved_in intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
SH3 domain-binding protein 5-like
Names
SH3BP-5-like

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_001322462.1 → NP_001309391.1  SH3 domain-binding protein 5-like isoform 2

    Status: VALIDATED

    Source sequence(s)
    AK125837, AL732583, BC010871
    UniProtKB/TrEMBL
    B4DSF1
    Related
    ENST00000475978.1
    Conserved Domains (1) summary
    pfam05276
    Location:7 → 157
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)

  2. NM_001322463.1 → NP_001309392.1  SH3 domain-binding protein 5-like isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL732583
    UniProtKB/TrEMBL
    B4DSF1
    Conserved Domains (1) summary
    pfam05276
    Location:7 → 157
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)

  3. NM_001322464.2 → NP_001309393.1  SH3 domain-binding protein 5-like isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL732583
    Conserved Domains (1) summary
    pfam05276
    Location:27 → 109
    SH3BP5; SH3 domain-binding protein 5 (SH3BP5)

  4. NM_030645.3 → NP_085148.1  SH3 domain-binding protein 5-like isoform 1

    See identical proteins and their annotated locations for NP_085148.1

    Status: VALIDATED

    Source sequence(s)
    AK056382, AL136569
    Consensus CDS
    CCDS31126.1
    UniProtKB/Swiss-Prot
    B4DQ94, Q7L8J4, Q96FI5, Q9BQH8, Q9C0E3
    Related
    ENSP00000355428.5, ENST00000366472.6
    Conserved Domains (1) summary
    pfam05276
    Location:55 → 283
    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    248810446..248825915 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431089.1 → XP_047287045.1  SH3 domain-binding protein 5-like isoform X1

    UniProtKB/TrEMBL
    Q96MW4

  2. XM_047431109.1 → XP_047287065.1  SH3 domain-binding protein 5-like isoform X1

    UniProtKB/TrEMBL
    Q96MW4

  3. XM_047431099.1 → XP_047287055.1  SH3 domain-binding protein 5-like isoform X1

    UniProtKB/TrEMBL
    Q96MW4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    248248930..248264398 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054338886.1 → XP_054194861.1  SH3 domain-binding protein 5-like isoform X1

    UniProtKB/TrEMBL
    Q96MW4

  2. XM_054338888.1 → XP_054194863.1  SH3 domain-binding protein 5-like isoform X1

    UniProtKB/TrEMBL
    Q96MW4

  3. XM_054338887.1 → XP_054194862.1  SH3 domain-binding protein 5-like isoform X1

    UniProtKB/TrEMBL
    Q96MW4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7L8J4.1 GenPept UniProtKB/Swiss-Prot:Q7L8J4

Gene LinkOut

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