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Sh2d1a SH2 domain containing 1A [ Mus musculus (house mouse) ]

Gene ID: 20400, updated on 5-Mar-2024

Summary

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Official Symbol
Sh2d1aprovided by MGI
Official Full Name
SH2 domain containing 1Aprovided by MGI
Primary source
MGI:MGI:1328352
See related
Ensembl:ENSMUSG00000005696 AllianceGenome:MGI:1328352
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
SAP; Gm686
Summary
Acts upstream of or within humoral immune response and positive regulation of natural killer cell mediated cytotoxicity. Predicted to be located in cytoplasm. Is expressed in retina. Used to study X-linked lymphoproliferative syndrome 1. Human ortholog(s) of this gene implicated in X-linked lymphoproliferative syndrome 1. Orthologous to human SH2D1A (SH2 domain containing 1A). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward thymus adult (RPKM 26.6) See more
Orthologs
human all
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Genomic context

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See Sh2d1a in Genome Data Viewer
Location:
X A4; X 23.2 cM
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (41591442..41610974)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (42502565..42522097)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA B230118I11 gene Neighboring gene STARR-seq mESC enhancer starr_47064 Neighboring gene STARR-seq mESC enhancer starr_47066 Neighboring gene STARR-seq mESC enhancer starr_47067 Neighboring gene STARR-seq mESC enhancer starr_47068 Neighboring gene TEX13 family member D Neighboring gene teneurin transmembrane protein 1 Neighboring gene predicted gene, 23705 Neighboring gene predicted gene, 46667

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Allosteric inhibition of SHP2 rescues functional T-cell abnormalities in SAP deficiency. Panchal N, et al. J Allergy Clin Immunol, 2022 Dec. PMID 35839843
  2. Affinity purification mass spectrometry analysis of PD-1 uncovers SAP as a new checkpoint inhibitor. Peled M, et al. Proc Natl Acad Sci U S A, 2018 Jan 16. PMID 29282323, Free PMC Article
  3. Dissection of SAP-dependent and SAP-independent SLAM family signaling in NKT cell development and humoral immunity. Chen S, et al. J Exp Med, 2017 Feb. PMID 28049627, Free PMC Article
  4. Inhibition of diacylglycerol kinase α restores restimulation-induced cell death and reduces immunopathology in XLP-1. Ruffo E, et al. Sci Transl Med, 2016 Jan 13. PMID 26764158, Free PMC Article
  5. The adaptor protein SAP regulates type II NKT-cell development, cytokine production, and cytotoxicity against lymphoma. Weng X, et al. Eur J Immunol, 2014 Dec. PMID 25236978, Free PMC Article

See all (140) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. T-B Lymphocyte Interactions Promote Type 1 Diabetes Independently of SLAM-Associated Protein.
    Title: T-B Lymphocyte Interactions Promote Type 1 Diabetes Independently of SLAM-Associated Protein.
  2. Critical Role for SLAM/SAP Signaling in the Thymic Developmental Programming of IL-17- and IFN-gamma-Producing gammadelta T Cells.
    Title: Critical Role for SLAM/SAP Signaling in the Thymic Developmental Programming of IL-17- and IFN-γ-Producing γδ T Cells.
  3. naive T cells regulate B cell survival in a SAP-dependent manner
    Title: T Cells Regulate Peripheral Naive Mature B Cell Survival by Cell-Cell Contact Mediated through SLAMF6 and SAP.
  4. SAP-dependent activating SFR signaling is essential for NKT cell selection.
    Title: Dissection of SAP-dependent and SAP-independent SLAM family signaling in NKT cell development and humoral immunity.
  5. SAP differentially regulates the late-stage lineage decisions of iNKT cell subsets. These results also provide evidence that iNKT1, iNKT2, and iNKT17 cells are differentially regulated by SAP. SAP-dependent signals are essential for the fate decisions that drive the differentiation of iNKT2 but not iNKT1 and NKT17 cells.
    Title: SLAM-associated protein favors the development of iNKT2 over iNKT17 cells.
  6. SAP is an essential molecule for autoimmune antibody production.
    Title: The Role of Follicular Helper T Cell Molecules and Environmental Influences in Autoantibody Production and Progression to Inflammatory Arthritis in Mice.
  7. In addition to their role in NK cell activation by hematopoietic cells, the SLAM-SAP-SHP1 pathways influence responsiveness toward nonhematopoietic targets by a process akin to NK cell 'education'.
    Title: A hematopoietic cell-driven mechanism involving SLAMF6 receptor, SAP adaptors and SHP-1 phosphatase regulates NK cell education.
  8. SLAM-SAP signaling promotes differentiation of IL-17-producing T cells and progression of experimental autoimmune encephalomyelitis.
    Title: SLAM-SAP signaling promotes differentiation of IL-17-producing T cells and progression of experimental autoimmune encephalomyelitis.
  9. these data suggest that SAP is critical for regulating type II NKT cell responses.
    Title: The adaptor protein SAP regulates type II NKT-cell development, cytokine production, and cytotoxicity against lymphoma.
  10. functional analysis in vitro indicates that SAP-2 is a non-functional isoform due to decreased protein stability
    Title: Identification of a new isoform of the murine Sh2d1a gene and its functional implications.
Submit: New GeneRIF Correction See all GeneRIFs (54)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
acts_upstream_of_or_within 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
  
acts_upstream_of_or_within humoral immune response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within innate immune response IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of natural killer cell mediated cytotoxicity IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of natural killer cell mediated cytotoxicity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of T cell receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of natural killer cell mediated cytotoxicity IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within positive regulation of natural killer cell mediated cytotoxicity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of immune response ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  

General protein information

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

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_001313688.1 → NP_001300617.1  SH2 domain-containing protein 1A isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AF097632, AL831716, KF811030
    UniProtKB/TrEMBL
    Q6P0X5, W0BZ77
    Conserved Domains (1) summary
    cl15255
    Location:2 → 122
    SH2; Src homology 2 (SH2) domain

  2. NM_001313689.1 → NP_001300618.1  SH2 domain-containing protein 1A isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of the first exon and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF097632, AL831716
    Consensus CDS
    CCDS85770.1
    UniProtKB/TrEMBL
    Q6P0X5
    Related
    ENSMUSP00000110722.2, ENSMUST00000115070.8
    Conserved Domains (1) summary
    cl15255
    Location:2 → 101
    SH2; Src homology 2 (SH2) domain

  3. NM_001313691.1 → NP_001300620.1  SH2 domain-containing protein 1A isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate first exon and lacks an internal exon compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AF097632, BF019627
    UniProtKB/TrEMBL
    B2RWI0
    Conserved Domains (1) summary
    cl15255
    Location:1 → 59
    SH2; Src homology 2 (SH2) domain

  4. NM_011364.4 → NP_035494.1  SH2 domain-containing protein 1A isoform 2

    See identical proteins and their annotated locations for NP_035494.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF097632, AK040076, AL831716
    Consensus CDS
    CCDS30099.1
    UniProtKB/Swiss-Prot
    A2ANL8, O88890, Q9QWV6
    UniProtKB/TrEMBL
    Q544F1, Q6P0X5
    Related
    ENSMUSP00000005839.5, ENSMUST00000005839.11
    Conserved Domains (1) summary
    cd10400
    Location:2 → 104
    SH2_SAP1a; Src homology 2 (SH2) domain found in SLAM-associated protein (SAP) 1a

RNA

  1. NR_132588.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two alternate exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AF097632, AK040076, AL831716, BF721340

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    41591442..41610974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017318440.1 → XP_017173929.1  SH2 domain-containing protein 1A isoform X1

    UniProtKB/TrEMBL
    B2RWI0
    Conserved Domains (1) summary
    cl15255
    Location:1 → 59
    SH2; Src homology 2 (SH2) domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O88890.1 GenPept UniProtKB/Swiss-Prot:O88890

Gene LinkOut

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