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

Summary

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Official Symbol: H2-Lprovided by MGI
Official Full Name: histocompatibility 2, D region locus Lprovided by MGI
Primary source: MGI:MGI:95912
See related: AllianceGenome:MGI:95912
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-2L
Summary: Predicted to enable several functions, including beta-2-microglobulin binding activity; peptide antigen binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent; antigen processing and presentation of endogenous peptide antigen via MHC class Ib; and positive regulation of T cell mediated cytotoxicity. Predicted to act upstream of or within defense response. Predicted to be located in several cellular components, including Golgi apparatus; cell surface; and endoplasmic reticulum. Predicted to be part of MHC class I protein complex and MHC class Ib protein complex. Predicted to be active in external side of plasma membrane and extracellular space. Human ortholog(s) of this gene implicated in several diseases, including Stevens-Johnson syndrome; 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]
Annotation information: not in current annotation release
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Genomic context

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Location:: chromosome: 17

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

L(d)-restricted killing of Toxoplasma gondii-infected target cells is demonstrated for the first time and is critically dependent on the strain of T. gondii tested.
Title: In vitro correlates of Ld-restricted resistance to toxoplasmic encephalitis and their critical dependence on parasite strain.
Analysis of chimeric L(d) and L(q) alpha 2 domains implicate amino acid residue 97 as the polymorphic site responsible for disparity in beta 2-microglobulin association between MHC class I alleles L(d) and L(q).
Title: Polymorphism at position 97 in MHC class I molecules affects peptide specificity, cell surface stability, and affinity for beta2-microglobulin.
Study presents the 2.35 A structure of the 2C TCR complexed with its foreign ligand H-2L(d)-QL9; surprisingly, TCR utilizes a different strategy to engage the foreign pMHC in comparison to the manner in which it recognizes a self ligand H-2K(b)-dEV8.
Title: How a single T cell receptor recognizes both self and foreign MHC.

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General gene information

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Markers

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

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
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 beta-2-microglobulin 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 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
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 antigen processing and presentation of peptide antigen via MHC class I	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within defense response	TAS Traceable Author Statement more info	PubMed
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of T cell mediated cytotoxicity	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	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 endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
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 phagocytic vesicle membrane	TAS Traceable Author Statement more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: histocompatibility 2, D region locus L

Names: histocompatibility 2, L region

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_001267808.1 → NP_001254737.1 histocompatibility 2, D region locus L

Status: VALIDATED

Source sequence(s)

V00751, V00752

UniProtKB/Swiss-Prot

P01897, Q31195, Q31196, Q31197

Conserved Domains (4) summary

cd07698
Location:203 → 295

IgC_MHC_I_alpha3; Class I major histocompatibility complex (MHC) alpha chain immunoglobulin domain

cd12087
Location:296 → 332

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

pfam00129
Location:21 → 199

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

pfam06623
Location:333 → 357

MHC_I_C; MHC_I C-terminus