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

Gene ID: 4068, updated on 4-May-2015
Official Symbol
SH2D1Aprovided by HGNC
Official Full Name
SH2 domain containing 1Aprovided by HGNC
Primary source
HGNC:HGNC:10820
See related
Ensembl:ENSG00000183918; HPRD:02390; MIM:300490; Vega:OTTHUMG00000022344
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]
Orthologs
See SH2D1A in MapViewer
Location:
Xq25
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (124346282..124373160)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (123480132..123507010)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene testis expressed sequence 13-like pseudogene Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 34 Neighboring gene uncharacterized LOC105373331 Neighboring gene teneurin transmembrane protein 1 Neighboring gene ribosomal protein S26 pseudogene 57

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
X-linked lymphoproliferative syndrome 1 Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-04-26)

ClinGen Genome Curation Page
  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
  • Measles, organism-specific biosystem (from KEGG)
    Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • Measles, conserved biosystem (from KEGG)
    Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
  • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ18687, FLJ92177

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3/SH2 adaptor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell-cell signaling IDA
Inferred from Direct Assay
more info
PubMed 
cellular defense response NAS
Non-traceable Author Statement
more info
PubMed 
humoral immune response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of natural killer cell mediated cytotoxicity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
SH2 domain-containing protein 1A
Names
SH2 domain-containing protein 1A
Duncan disease SH2-protein
SLAM associated protein/SH2 domain protein 1A
SLAM-associated protein
T cell signal transduction molecule SAP
T-cell signal transduction molecule SAP
signaling lymphocyte activation molecule-associated protein
signaling lymphocytic activation molecule-associated protein

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_001114937.2NP_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, AL022718, AL023657, DA007747
    Consensus CDS
    CCDS48162.1
    UniProtKB/Swiss-Prot
    O60880
    Conserved Domains (1) summary
    cd10400
    Location:2104
    SH2_SAP1a; Src homology 2 (SH2) domain found in SLAM-associated protein (SAP) 1a
  2. NM_002351.4NP_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, AL022718, AL023657
    Consensus CDS
    CCDS14608.1
    UniProtKB/Swiss-Prot
    O60880
    Related
    ENSP00000360181, OTTHUMP00000023976, ENST00000371139, OTTHUMT00000058174
    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 Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    124346282..124373160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    123391547..123418040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)