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    STAP1 signal transducing adaptor family member 1 [ Homo sapiens (human) ]

    Gene ID: 26228, updated on 8-Jul-2018
    Official Symbol
    STAP1provided by HGNC
    Official Full Name
    signal transducing adaptor family member 1provided by HGNC
    Primary source
    HGNC:HGNC:24133
    See related
    Ensembl:ENSG00000035720 MIM:604298; Vega:OTTHUMG00000129304
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BRDG1; STAP-1
    Summary
    The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
    Expression
    Biased expression in lymph node (RPKM 15.1), appendix (RPKM 6.5) and 5 other tissues See more
    Orthologs
    See STAP1 in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (67558697..67607341)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68424415..68473059)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 527 Neighboring gene centromere protein C Neighboring gene small EDRK-rich factor 2 pseudogene Neighboring gene ubiquitin like modifier activating enzyme 6 Neighboring gene UBA6 antisense RNA 1 (head to head) Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 1 pseudogene 1

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3/SH2 adaptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    macrophage colony-stimulating factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transmembrane receptor protein tyrosine kinase adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of macrophage chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of macrophage colony-stimulating factor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of microglial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of ruffle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of B cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of actin cytoskeleton reorganization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of microglial cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of microglial cell mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of non-membrane spanning protein tyrosine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of phagocytosis, engulfment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transmembrane receptor protein tyrosine kinase signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    signal-transducing adaptor protein 1
    Names
    BCR downstream-signaling protein 1
    docking protein BRDG1
    stem cell adaptor protein 1

    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.

    Genomic

    1. NG_047142.1 RefSeqGene

      Range
      4970..53614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317769.1NP_001304698.1  signal-transducing adaptor protein 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB023483, BC014958, BX372307
      Consensus CDS
      CCDS3515.1
      UniProtKB/Swiss-Prot
      Q9ULZ2
      UniProtKB/TrEMBL
      A0A024RD91
      Related
      ENSP00000379527.1, OTTHUMP00000159640, ENST00000396225.1, OTTHUMT00000251435
      Conserved Domains (2) summary
      cd10403
      Location:176268
      SH2_STAP1; Src homology 2 domain found in Signal-transducing adaptor protein 1 (STAP1)
      cd13268
      Location:15139
      PH_Brdg1; BCR downstream signaling 1 Pleckstrin homology (PH) domain
    2. NM_012108.3NP_036240.1  signal-transducing adaptor protein 1

      See identical proteins and their annotated locations for NP_036240.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB023483, AI289185, BE326685, BG190230, BX372307
      Consensus CDS
      CCDS3515.1
      UniProtKB/Swiss-Prot
      Q9ULZ2
      UniProtKB/TrEMBL
      A0A024RD91
      Related
      ENSP00000265404.2, OTTHUMP00000159639, ENST00000265404.6, OTTHUMT00000251434
      Conserved Domains (2) summary
      cd10403
      Location:176268
      SH2_STAP1; Src homology 2 domain found in Signal-transducing adaptor protein 1 (STAP1)
      cd13268
      Location:15139
      PH_Brdg1; BCR downstream signaling 1 Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      67558697..67607341
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008018.2XP_016863507.1  signal-transducing adaptor protein 1 isoform X1

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