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

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 artery disease (multiple); asthma (multiple); autoimmune disease (multiple); eye disease (multiple); and inner ear disease (multiple). Orthologous to several human genes including HLA-B (major histocompatibility complex, class I, B); HLA-C (major histocompatibility complex, class I, C); and HLA-E (major histocompatibility complex, class I, E). [provided by Alliance of Genome Resources, Nov 2024]
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

Location:: 17 B1; 17 18.61 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The mRNA levels of H2-d1 in the prefrontal cortex, hippocampus, and hypothalamus and C1qb in the hippocampus of the DBA/2 J strain were significantly down-regulated as compared to those in the C57BL/6 J strain
Title: Association of brain immune genes with social behavior of inbred mouse strains.
many self-peptides in the L(d) system (or the HLA-B system) would exhibit enhanced binding to Arg(97) alleles compared with Trp(97) alleles.
Title: The same major histocompatibility complex polymorphism involved in control of HIV influences peptide binding in the mouse H-2Ld system.
The identification and characterization of two CD4+ T cell epitopes of Lpp20 helps understand the protective immunity of Lpp20 in H.pylori infection.
Title: Identification and characterization of H-2d restricted CD4+ T cell epitopes on Lpp20 of Helicobacter pylori.
Data show that At early stages, tumors demonstrated reduced MHC class I expression and increased expression of natural killer group 2D ligands (NKG2D-L).
Title: Requirements for control of B-cell lymphoma by NK cells.
results show that neuronal MHC class Ia (H2-K(b)/D(b)) molecules are present in motor axons, are important for organization of neuromuscular junctions and motor recovery after nerve lesion, and that Schwann cells may mediate their actions
Title: Classical major histocompatibility complex class I molecules in motoneurons: new actors at the neuromuscular junction.
class I single-chain trimers are more immunogenic than even preprocessed Ag in the form of an epitope minigene
Title: A single-chain H-2Db molecule presenting an influenza virus nucleoprotein epitope shows enhanced ability at stimulating CD8+ T cell responses in vivo.
Data show that, despite the absence of H2-D1 and H2-K1 moecules, adult Purkinje cell in these transgenic mice are monoinnervated as in wild-type animals.
Title: Normal adult climbing fiber monoinnervation of cerebellar Purkinje cells in mice lacking MHC class I molecules.
Coexpression of a Ly49A transgene partially rescued NKT cell development in Ly49D/H2-Dd transgenics.
Title: Ligand-dependent inhibition of CD1d-restricted NKT cell development in mice transgenic for the activating receptor Ly49D.
Presentation of a new H-2D(k)-restricted epitope in the Tax protein of human T-lymphotropic virus type I is enhanced by the proteasome inhibitor lactacystin
Title: Presentation of a new H-2D(k)-restricted epitope in the Tax protein of human T-lymphotropic virus type I is enhanced by the proteasome inhibitor lactacystin.
efficient control of solid allogeneic tumors by NK cells depends on codelivery of both B7-1 and major histocompatibility complex class I (H-2Dd)on the tumor cells.
Title: Two-signal requirement for activation and effector function of natural killer cell response to allogeneic tumor cells.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Variation

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Alleles

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

Endonuclease-mediated (13) 1 citation
Spontaneous (2) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

H2-K1 (e-PCR), detects polymorphism
- UniSTS:463411

H2-D1 (e-PCR), detects polymorphism
- UniSTS:474693

H2-D1 (e-PCR), detects polymorphism
- UniSTS:525226

H2-D1 (e-PCR), detects polymorphism
- UniSTS:143300

H2-D (e-PCR)
- UniSTS:143301

H2-Q6 (e-PCR), detects polymorphism
- UniSTS:143310

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 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 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
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 protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
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
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
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class Ib	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IBA Inferred from Biological aspect of Ancestor 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
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	IEA Inferred from Electronic Annotation 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
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
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
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

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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)

NM_010380.3 → NP_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, W5XQG0

Related

ENSMUSP00000134570.2, ENSMUST00000172785.8

Conserved Domains (3) summary

cd12087
Location:300 → 336

TM_EGFR-like; Transmembrane domain of the Epidermal Growth Factor Receptor family of Protein Tyrosine Kinases

pfam00129
Location:25 → 203

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2

cd21018
Location:204 → 298

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: 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

NC_000083.7 Reference GRCm39 C57BL/6J

Range

35482070..35486473

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P01895.1	GenPept	UniProtKB/Swiss-Prot:P01895
P01896.1	GenPept	UniProtKB/Swiss-Prot:P01896
P01899.2	GenPept	UniProtKB/Swiss-Prot:P01899
P01900.1	GenPept	UniProtKB/Swiss-Prot:P01900
P14426.1	GenPept	UniProtKB/Swiss-Prot:P14426
P14427.1	GenPept	UniProtKB/Swiss-Prot:P14427