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    SH2D1A SH2 domain containing 1A [ Homo sapiens (human) ]

    Gene ID: 4068, updated on 8-Jul-2021

    Summary

    Official Symbol
    SH2D1Aprovided by HGNC
    Official Full Name
    SH2 domain containing 1Aprovided by HGNC
    Primary source
    HGNC:HGNC:10820
    See related
    Ensembl:ENSG00000183918 MIM:300490
    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
    LYP; SAP; XLP; DSHP; EBVS; IMD5; XLPD; MTCP1; XLPD1; SAP/SH2D1A
    Summary
    This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in lymph node (RPKM 17.0), spleen (RPKM 6.1) and 7 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SH2D1A in Genome Data Viewer
    Location:
    Xq25
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (124346563..124373160)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (123480413..123507010)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene nucleophosmin 1 pseudogene 34 Neighboring gene uncharacterized LOC105373331 Neighboring gene TEX13 family member D Neighboring gene teneurin transmembrane protein 1 Neighboring gene ribosomal protein S26 pseudogene 57

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Lymphoproliferative syndrome 1, X-linked Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-01-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-01-27)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ18687, FLJ92177

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in adaptive immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular defense response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in humoral immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of T cell receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of natural killer cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of immune response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    SH2 domain-containing protein 1A
    Names
    Duncan disease SH2-protein
    SLAM associated protein/SH2 domain protein 1A
    SLAM-associated protein
    T cell signal transduction molecule SAP
    signaling lymphocyte activation molecule-associated protein
    signaling lymphocytic activation molecule-associated protein

    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_007464.1 RefSeqGene

      Range
      4983..31861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_106

    mRNA and Protein(s)

    1. NM_001114937.3NP_001108409.1  SH2 domain-containing protein 1A isoform 2

      See identical proteins and their annotated locations for NP_001108409.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AA190204, AF100541, AL023657, DA007747
      Consensus CDS
      CCDS48162.1
      UniProtKB/Swiss-Prot
      O60880
      Related
      ENSP00000353126.4, ENST00000360027.4
      Conserved Domains (1) summary
      cd10400
      Location:2104
      SH2_SAP1a; Src homology 2 (SH2) domain found in SLAM-associated protein (SAP) 1a
    2. NM_002351.5NP_002342.1  SH2 domain-containing protein 1A isoform 1

      See identical proteins and their annotated locations for NP_002342.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA190204, AL023657
      Consensus CDS
      CCDS14608.1
      UniProtKB/Swiss-Prot
      O60880
      Related
      ENSP00000360181.5, ENST00000371139.9
      Conserved Domains (1) summary
      cd10400
      Location:2104
      SH2_SAP1a; Src homology 2 (SH2) domain found in SLAM-associated protein (SAP) 1a

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      124346563..124373160
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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