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H2-D1 histocompatibility 2, D region locus 1 [ Mus musculus (house mouse) ]

Gene ID: 14964, updated on 24-Jan-2023

Summary

Official Symbol
H2-D1provided by MGI
Official Full Name
histocompatibility 2, D region locus 1provided by MGI
Primary source
MGI:MGI:95896
See related
Ensembl:ENSMUSG00000073411 AllianceGenome:MGI:95896
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
H-2D; H2-D; H2-K1
Summary
Predicted to enable several functions, including 14-3-3 protein binding activity; TAP binding activity; and signaling receptor binding activity. Acts upstream of or within antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; negative regulation of neuron projection development; and positive regulation of T cell mediated cytotoxicity. Located in external side of plasma membrane. Colocalizes with membrane raft. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in several diseases, including asthma (multiple); autoimmune disease (multiple); eye disease (multiple); human immunodeficiency virus infectious disease (multiple); and inner ear disease (multiple). Orthologous to several human genes including HLA-A (major histocompatibility complex, class I, A); HLA-B (major histocompatibility complex, class I, B); and HLA-C (major histocompatibility complex, class I, C). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in mammary gland adult (RPKM 954.4), subcutaneous fat pad adult (RPKM 813.1) and 18 other tissues See more
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Genomic context

See H2-D1 in Genome Data Viewer
Location:
17 B1; 17 18.61 cM
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (35482070..35486473)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (35263094..35267497)

Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene DEAD box helicase 39b Neighboring gene predicted gene, 25128 Neighboring gene microRNA 8094 Neighboring gene vacuolar protein sorting 52 pseudogene Neighboring gene vacuolar protein sorting 52 pseudogene

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 Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 14-3-3 protein binding ISO
Inferred from Sequence Orthology
more info
 
enables CD8 receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables MHC class I protein binding ISO
Inferred from Sequence Orthology
more info
 
enables T cell receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables TAP complex binding ISO
Inferred from Sequence Orthology
more info
 
enables TAP1 binding ISO
Inferred from Sequence Orthology
more info
 
enables TAP2 binding ISO
Inferred from Sequence Orthology
more info
 
enables beta-2-microglobulin binding ISO
Inferred from Sequence Orthology
more info
 
enables chaperone binding ISO
Inferred from Sequence Orthology
more info
 
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
 
enables natural killer cell lectin-like receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables peptide antigen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables peptide antigen binding ISO
Inferred from Sequence Orthology
more info
 
enables peptide binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables signaling receptor binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
acts_upstream_of T cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in antigen processing and presentation IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent IDA
Inferred from Direct Assay
more info
PubMed 
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class Ib IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within antigen processing and presentation of peptide antigen via MHC class I IEA
Inferred from Electronic Annotation
more info
 
involved_in immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within immune system process IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within negative regulation of neuron projection development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within negative regulation of neuron projection development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within negative regulation of neuron projection development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of T cell mediated cytotoxicity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within positive regulation of T cell mediated cytotoxicity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in Golgi medial cisterna ISO
Inferred from Sequence Orthology
more info
 
located_in Golgi membrane ISO
Inferred from Sequence Orthology
more info
 
part_of MHC class I peptide loading complex ISO
Inferred from Sequence Orthology
more info
 
part_of MHC class I protein complex ISO
Inferred from Sequence Orthology
more info
 
part_of MHC class Ib protein complex ISO
Inferred from Sequence Orthology
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
located_in cis-Golgi network membrane ISO
Inferred from Sequence Orthology
more info
 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
located_in early endosome membrane ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum exit site ISO
Inferred from Sequence Orthology
more info
 
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in external side of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lumenal side of endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in lysosomal membrane ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
located_in phagocytic vesicle membrane TAS
Traceable Author Statement
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
H-2 class I histocompatibility antigen, D-B alpha chain
Names
H-2D cell surface glycoprotein
H2-DC1-beta transplantation antigen protein
MHC H2-D-q alpha-chain
MHC class I H-2Dp
MHC class I H2 antigen
Q5k 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_010380.3NP_034510.3  H-2 class I histocompatibility antigen, D-B alpha chain precursor

    See identical proteins and their annotated locations for NP_034510.3

    Status: VALIDATED

    Source sequence(s)
    AK159572, BY225620, BY579672
    Consensus CDS
    CCDS57074.1
    UniProtKB/Swiss-Prot
    P01899
    UniProtKB/TrEMBL
    Q792Z7
    Related
    ENSMUSP00000134570.2, ENSMUST00000172785.8
    Conserved Domains (3) summary
    cd12087
    Location:300336
    TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases
    pfam00129
    Location:25203
    MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
    cd21018
    Location:204298
    IgC1_MHC_Ia_H2Db_H2Ld; Class Ia major histocompatibility complex (MHC) immunoglobulin domain of human leukocyte antigen (HLA) H2Db and H2Ld; member of the C1-set of Ig superfamily (IgSF) domains

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    35482070..35486473
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)