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

    Gene ID: 26228, updated on 28-Oct-2024

    Summary

    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; AllianceGenome:HGNC:24133
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STAP1 in Genome Data Viewer
    Location:
    4q13.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (67558727..67607337)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (71001810..71050419)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (68424445..68473055)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 527 Neighboring gene NANOG hESC enhancer GRCh37_chr4:68344255-68344756 Neighboring gene centromere protein C Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68385691-68386192 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68386193-68386692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:68410993-68411543 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21597 Neighboring gene Sharpr-MPRA regulatory region 12077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15462 Neighboring gene small EDRK-rich factor 2-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15463 Neighboring gene ubiquitin like modifier activating enzyme 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15464 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21598 Neighboring gene UBA6 divergent transcript Neighboring gene ST3GAL1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables macrophage colony-stimulating factor receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phospholipid binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein tyrosine kinase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling adaptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables signaling adaptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transmembrane receptor protein tyrosine kinase adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell surface receptor protein tyrosine kinase signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of macrophage chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of macrophage colony-stimulating factor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of microglial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of ruffle assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of B cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of B cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of microglial cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of microglial cell mediated cytotoxicity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of phagocytosis, engulfment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    signal-transducing adaptor protein 1
    Names
    BCR downstream-signaling protein 1
    docking protein BRDG1
    stem cell adaptor protein 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5000..53610
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001317769.2NP_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
      B2R980, Q9ULZ2
      Related
      ENSP00000379527.1, ENST00000396225.1
      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_012108.4NP_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, BE326685, BG190230, BX372307
      Consensus CDS
      CCDS3515.1
      UniProtKB/Swiss-Prot
      B2R980, Q9ULZ2
      Related
      ENSP00000265404.2, ENST00000265404.7
      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: 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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      67558727..67607337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      71001810..71050419
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)