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

    Gene ID: 80851, updated on 2-Nov-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. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 5.3), brain (RPKM 5.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SH3BP5L in Genome Data Viewer
    Location:
    1q44
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (248810446..248825915, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (248248930..248264398, complement)
    RS_2024_09 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 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 (26) 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_2024_08

    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

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

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