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

Gene ID: 20400, updated on 9-Apr-2019

Summary

Official Symbol
Sh2d1aprovided by MGI
Official Full Name
SH2 domain containing 1Aprovided by MGI
Primary source
MGI:MGI:1328352
See related
Ensembl:ENSMUSG00000005696
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
Expression
Restricted expression toward thymus adult (RPKM 26.6) See more
Orthologs

Genomic context

See Sh2d1a in Genome Data Viewer
Location:
X; X A4
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) X NC_000086.7 (42502565..42522097)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (39855785..39875252)

Chromosome X - NC_000086.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA B230118I11 gene Neighboring gene TEX13 family member D Neighboring gene teneurin transmembrane protein 1 Neighboring gene 40S ribosomal protein S15a pseudogene Neighboring gene predicted gene 14578

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
SH3/SH2 adaptor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling ISO
Inferred from Sequence Orthology
more info
 
cellular defense response IEA
Inferred from Electronic Annotation
more info
 
humoral immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
immune system process IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
positive regulation of natural killer cell mediated cytotoxicity IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of natural killer cell mediated cytotoxicity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
SH2 domain-containing protein 1A
Names
Duncan disease homolog
SH2 domain protein 1A
SLAM-associated protein isoform SAP-2
T-cell signal transduction molecule SAP
signaling lymphocytic activation molecule-associated protein

NCBI Reference Sequences (RefSeq)

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_001313688.1NP_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/Swiss-Prot
    O88890
    UniProtKB/TrEMBL
    W0BZ77
    Conserved Domains (1) summary
    cl15255
    Location:2122
    SH2; Src homology 2 (SH2) domain
  2. NM_001313689.1NP_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/Swiss-Prot
    O88890
    Related
    ENSMUSP00000110722.1, ENSMUST00000115070.7
    Conserved Domains (1) summary
    cl15255
    Location:2101
    SH2; Src homology 2 (SH2) domain
  3. NM_001313691.1NP_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/Swiss-Prot
    O88890
    UniProtKB/TrEMBL
    B2RWI0
    Conserved Domains (1) summary
    cl15255
    Location:159
    SH2; Src homology 2 (SH2) domain
  4. NM_011364.4NP_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
    O88890
    UniProtKB/TrEMBL
    Q544F1
    Related
    ENSMUSP00000005839.4, ENSMUST00000005839.10
    Conserved Domains (1) summary
    cd10400
    Location:2104
    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: Mus musculus Annotation Release 106

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

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000086.7 Reference GRCm38.p4 C57BL/6J

    Range
    42502565..42522097
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    B2RWI0
    Conserved Domains (1) summary
    cl15255
    Location:159
    SH2; Src homology 2 (SH2) domain
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