H2-Q1 histocompatibility 2, Q region locus 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: H2-Q1provided by MGI
Official Full Name: histocompatibility 2, Q region locus 1provided by MGI
Primary source: MGI:MGI:95928
See related: Ensembl:ENSMUSG00000079507 AllianceGenome:MGI:95928
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: Q1; Q1b; Q1d; Q1k; Qa1; Qa-1; H-2Q1; H2-D1; Qed-1
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. Predicted to be located in several cellular components, including bounding membrane of organelle; 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. Is expressed in brain; small intestine; and thymus. 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-E (major histocompatibility complex, class I, E); HLA-F (major histocompatibility complex, class I, F); and HLA-G (major histocompatibility complex, class I, G). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in small intestine adult (RPKM 87.1), duodenum adult (RPKM 74.8) and 16 other tissues See more
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Genomic context

Location:: 17 B1; 17 18.63 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (35539503..35547118)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (35320525..35328142)

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
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 data show that CD8 Treg/NK cell restriction element Qa-1 does not regulate the primary cellular or humoral alloresponse and is not required for long-term transplant tolerance.
Title: Host Expression of the CD8 Treg/NK Cell Restriction Element Qa-1 is Dispensable for Transplant Tolerance.
data illustrate the structural homology between Qa-1(b) and HLA-E and provide a structural basis for understanding peptide repertoire selection and the specificity of the interaction of Qa-1(b) with CD94-NKG2 receptors.
Title: A structural basis for antigen presentation by the MHC class Ib molecule, Qa-1b.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (2)

General gene information

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Markers

D17Rua9 (e-PCR), detects polymorphism
- UniSTS:142166

H2-Q1 (e-PCR), detects polymorphism
- UniSTS:525230

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 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_or_within antigen processing and presentation	IMP Inferred from Mutant Phenotype 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
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
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
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: histocompatibility 2, Q region locus 1

Names: MHC class II antigen D

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_001358790.1 → NP_001345719.1 histocompatibility 2, Q region locus 1 isoform 2 precursor

Status: VALIDATED

Source sequence(s)

CR974466

Consensus CDS

CCDS89084.1

UniProtKB/TrEMBL

E9PX63, Q66JR0

Related

ENSMUSP00000100662.4, ENSMUST00000105041.10

Conserved Domains (2) summary

cd07698
Location:204 → 296

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

pfam00129
Location:22 → 200

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
NM_010390.4 → NP_034520.2 histocompatibility 2, Q region locus 1 isoform 1 precursor

See identical proteins and their annotated locations for NP_034520.2

Status: VALIDATED

Source sequence(s)

CR974466, U96752

Consensus CDS

CCDS50086.1

UniProtKB/TrEMBL

O19441, Q31215

Related

ENSMUSP00000072942.6, ENSMUST00000073208.6

Conserved Domains (3) summary

cd07698
Location:204 → 296

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

pfam00129
Location:22 → 200

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

pfam06623
Location:340 → 367

MHC_I_C; MHC_I C-terminus

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

35539503..35547118

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011246301.3 → XP_011244603.1 histocompatibility 2, Q region locus 1 isoform X5

See identical proteins and their annotated locations for XP_011244603.1

UniProtKB/TrEMBL

Q31215

Conserved Domains (2) summary

cd07698
Location:277 → 369

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

pfam00129
Location:96 → 273

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_006523687.5 → XP_006523750.1 histocompatibility 2, Q region locus 1 isoform X2

See identical proteins and their annotated locations for XP_006523750.1

Conserved Domains (2) summary

cd07698
Location:277 → 369

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

pfam00129
Location:96 → 273

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_006523689.4 → XP_006523752.1 histocompatibility 2, Q region locus 1 isoform X4

See identical proteins and their annotated locations for XP_006523752.1

UniProtKB/TrEMBL

Q31215

Conserved Domains (2) summary

cd07698
Location:277 → 369

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

pfam00129
Location:96 → 273

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_011246300.4 → XP_011244602.1 histocompatibility 2, Q region locus 1 isoform X1

See identical proteins and their annotated locations for XP_011244602.1

Conserved Domains (2) summary

cd07698
Location:277 → 369

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

pfam00129
Location:96 → 273

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_006523688.5 → XP_006523751.1 histocompatibility 2, Q region locus 1 isoform X3

See identical proteins and their annotated locations for XP_006523751.1

UniProtKB/TrEMBL

Q31215

Conserved Domains (2) summary

cd07698
Location:277 → 369

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

pfam00129
Location:96 → 273

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_006523690.3 → XP_006523753.1 histocompatibility 2, Q region locus 1 isoform X6

See identical proteins and their annotated locations for XP_006523753.1

UniProtKB/TrEMBL

Q66JR0

Conserved Domains (2) summary

cd07698
Location:277 → 369

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

pfam00129
Location:96 → 273

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_030249510.2 → XP_030105370.1 histocompatibility 2, Q region locus 1 isoform X9

UniProtKB/TrEMBL

Q66JR0

Conserved Domains (2) summary

cd07698
Location:212 → 304

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

pfam00129
Location:31 → 208

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_006523692.4 → XP_006523755.1 histocompatibility 2, Q region locus 1 isoform X10

See identical proteins and their annotated locations for XP_006523755.1

Conserved Domains (2) summary

cd07698
Location:185 → 277

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

cl08246
Location:96 → 184

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_011246302.4 → XP_011244604.1 histocompatibility 2, Q region locus 1 isoform X8

See identical proteins and their annotated locations for XP_011244604.1

UniProtKB/TrEMBL

Q31215

Related

ENSMUST00000172994.2

Conserved Domains (2) summary

cd07698
Location:212 → 304

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

pfam00129
Location:31 → 208

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_006523691.4 → XP_006523754.1 histocompatibility 2, Q region locus 1 isoform X7

See identical proteins and their annotated locations for XP_006523754.1

UniProtKB/TrEMBL

Q66JR0

Conserved Domains (2) summary

cd07698
Location:212 → 304

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

pfam00129
Location:31 → 208

MHC_I; Class I Histocompatibility antigen, domains alpha 1 and 2
XM_017317262.2 → XP_017172751.1 histocompatibility 2, Q region locus 1 isoform X11

Conserved Domains (2) summary

cd07698
Location:120 → 212

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

cl08246
Location:31 → 119

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