H2-Ab1 histocompatibility 2, class II antigen A, beta 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: H2-Ab1provided by MGI
Official Full Name: histocompatibility 2, class II antigen A, beta 1provided by MGI
Primary source: MGI:MGI:103070
See related: Ensembl:ENSMUSG00000073421 AllianceGenome:MGI:103070
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: IAb; Ia2; Ia-2; Abeta; H-2Ab; H2-Ab; Rmcs1; I-Abeta
Summary: Enables peptide antigen binding activity. Acts upstream of or within antigen processing and presentation of exogenous peptide antigen via MHC class II and immune response. Located in Golgi apparatus; endosome; and external side of plasma membrane. Part of MHC class II protein complex. Is expressed in several structures, including adipose tissue; bone; hemolymphoid system; liver; and lung. Used to study dilated cardiomyopathy and myocarditis. Human ortholog(s) of this gene implicated in several diseases, including allergic disease (multiple); autoimmune disease (multiple); bacterial infectious disease (multiple); hematologic cancer (multiple); and liver disease (multiple). Orthologous to several human genes including HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in spleen adult (RPKM 2279.6), large intestine adult (RPKM 1316.2) and 12 other tissues See more
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Genomic context

Location:: 17 B1; 17 17.98 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (34482201..34488392)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (34263227..34269418)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Gut microbiota regulates blood-cerebrospinal fluid barrier function and Abeta pathology.
Title: Gut microbiota regulates blood-cerebrospinal fluid barrier function and Aβ pathology.
Two structurally defined Abeta polymorphs promote different pathological changes in susceptible mice.
Title: Two structurally defined Aβ polymorphs promote different pathological changes in susceptible mice.
Both the modest nature of the TLR2-mediated inflammatory response and the modulation of MHC-II expression by Brucella abortus may contribute to bacterial survival in alveolar macrophages.
Title: Key role of Toll-like receptor 2 in the inflammatory response and major histocompatibility complex class ii downregulation in Brucella abortus-infected alveolar macrophages.
Murine CD4+ T cells specific for Salmonella peptide/class II histocompatibility ligands are numerically stable for more than a year after initial oral infection with Salmonella.
Title: CD4+ T cell persistence and function after infection are maintained by low-level peptide:MHC class II presentation.
T helper cells with captured peptide-MHC-II (H2-Ab1) antigen molecules become effector cells that manifest better recall responses, and regulatory (Treg) cells with captured ligands exhibit enhanced suppression activity.
Title: Presentation of acquired peptide-MHC class II ligands by CD4+ regulatory T cells or helper cells differentially regulates antigen-specific CD4+ T cell response.
Data demonstrate that the presence of distinct forms of MHC-II with plasma membrane lipid rafts is required for MHC-II aggregation in APCs.
Title: Distinct MHC class II molecules are associated on the dendritic cell surface in cholesterol-dependent membrane microdomains.
deletion of IA-2 and IA-2beta, structural proteins of secretory vesicles and modulators of neuroendocrine secretion, has a profound effect on the circadian system
Title: Deletion of the secretory vesicle proteins IA-2 and IA-2beta disrupts circadian rhythms of cardiovascular and physical activity.
Phogrin and IA-2 function as essential regulators of autocrine insulin action in pancreatic beta-cells.
Title: Gene silencing of phogrin unveils its essential role in glucose-responsive pancreatic beta-cell growth.
The microenvironment of I-Ab molecules that acquired their antigenic cargo in endosomes may be important for polarized tubulation of class II-positive compartments in antigen-presenting dendritic cells.
Title: Requirements for T cell-polarized tubulation of class II+ compartments in dendritic cells.
crystal structure of the murine class II MHC molecule I-A(b) in complex with human CLIP at 2.15A resolution
Title: Crystal structure of MHC class II I-Ab in complex with a human CLIP peptide: prediction of an I-Ab peptide-binding motif.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Endonuclease-mediated (16) 1 citation
Spontaneous (1) 1 citation
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17Dgm2 (e-PCR), detects polymorphism
- UniSTS:142113

H2-Ab1 (e-PCR), detects polymorphism
- UniSTS:238118

H2-Ab1 (e-PCR), detects polymorphism
- UniSTS:238119

AI845868 (e-PCR)
- UniSTS:166052

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables MHC class II protein complex binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables peptide antigen binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within antigen processing and presentation	IDA Inferred from Direct Assay more info	PubMed
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within antigen processing and presentation of exogenous peptide antigen via MHC class II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within antigen processing and presentation of peptide antigen	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within immune response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in peptide antigen assembly with MHC class II protein complex	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of T cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of immune response	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
part_of MHC class II protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of MHC class II protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in cell surface	ISO Inferred from Sequence Orthology more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular anatomical structure	IDA Inferred from Direct Assay more info	PubMed
is_active_in late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in multivesicular body	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: histocompatibility 2, class II antigen A, beta 1

Names: H-2 class II histocompatibility antigen, A beta chain; MHC class II H2-IA-beta-psi; histocompatibility 2, class II antigen A, beta, promoter 1; major histocompatibility complex class II beta chain; response to metastatic cancers 1

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_207105.3 → NP_996988.2 histocompatibility 2, class II antigen A, beta 1 precursor

See identical proteins and their annotated locations for NP_996988.2

Status: VALIDATED

Source sequence(s)

AK077436, BB056841, BY205244, CK330363

Consensus CDS

CCDS37583.1

UniProtKB/Swiss-Prot

P14483

UniProtKB/TrEMBL

Q3TD53, Q8BPA0

Related

ENSMUSP00000041008.6, ENSMUST00000040828.7

Conserved Domains (2) summary

cd05766
Location:125 → 218

IgC_MHC_II_beta; Class II major histocompatibility complex (MHC) beta chain immunoglobulin domain

pfam00969
Location:40 → 111

MHC_II_beta; Class II histocompatibility antigen, beta domain

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

34482201..34488392

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P01921.1	GenPept	UniProtKB/Swiss-Prot:P01921
P06342.1	GenPept	UniProtKB/Swiss-Prot:P06342
P06343.1	GenPept	UniProtKB/Swiss-Prot:P06343
P06345.1	GenPept	UniProtKB/Swiss-Prot:P06345
P06346.1	GenPept	UniProtKB/Swiss-Prot:P06346
P14483.1	GenPept	UniProtKB/Swiss-Prot:P14483