Homo sapiens Gene: HLA-DQB1
Summary
InnateDB Gene IDBG-81203.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HLA-DQB1
Gene Name major histocompatibility complex, class II, DQ beta 1
Synonyms CELIAC1; HLA-DQB; IDDM1;
Species Homo sapiens
Ensembl Gene ENSG00000179344
Encoded Proteins
major histocompatibility complex, class II, DQ beta 1
major histocompatibility complex, class II, DQ beta 1
major histocompatibility complex, class II, DQ beta 1
major histocompatibility complex, class II, DQ beta 1
major histocompatibility complex, class II, DQ beta 1
major histocompatibility complex, class II, DQ beta 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation from Orthologs
Summary
[Mus musculus] H2-Ab1 is an intracellular MHC class II molecule that can act as an adaptor to promote the full activation of the TLR-triggered innate immune response.
Entrez Gene
Summary HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:32659467-32668383
Strand Reverse strand
Band p21.32
Transcripts
ENST00000374943 ENSP00000364080
ENST00000399084 ENSP00000382034
ENST00000399082 ENSP00000382032
ENST00000399079 ENSP00000382029
ENST00000434651 ENSP00000407332
ENST00000487676
ENST00000484729 ENSP00000436686
ENST00000460185
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I
GO:0002504 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II
GO:0006955 immune response
GO:0019882 antigen processing and presentation
GO:0045087 innate immune response
Cellular Component
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0042612 MHC class I protein complex
GO:0042613 MHC class II protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Phagosome pathway
Cell adhesion molecules (CAMs) pathway
Antigen processing and presentation pathway
Intestinal immune network for IgA production pathway
Type I diabetes mellitus pathway
Leishmaniasis pathway
Toxoplasmosis pathway
Staphylococcus aureus infection pathway
Asthma pathway
Autoimmune thyroid disease pathway
Systemic lupus erythematosus pathway
Allograft rejection pathway
Graft-versus-host disease pathway
Viral myocarditis pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL E9PIB1 L0BW29 L0BX86 L0BX94 M4YQH8 N0A0M1 N0A4C3 O19741 O78224 Q4VC55 Q5BLN2 Q5BLN3 Q8MHQ2 Q8SNB9 Q9BCT8 R4QU49 T1R348
UniProt Splice Variant
Entrez Gene 3119
UniGene Hs.560366 Hs.697180 Hs.697652
RefSeq NM_001243961 NM_002123
HUGO HGNC:4944
OMIM 604305
CCDS CCDS43451 CCDS59006
HPRD 05054
IMGT
EMBL AF307156 AF506754 AL662789 AY036896 AY950605 AY950606 AY999074 JX842724 KC019985 KC020003 KC020013 KC441504 KC592346 KC748259 KC748262 M22550 M65049
GenPept AAA59709 AAA59821 AAK17123 AAK96012 AAM28883 AAX22135 AAX22136 AAY33733 AFZ94661 AFZ94679 AFZ94689 AGG79760 AGI48717 AGK44334 AGK44337 AGL73154
RNA Seq Atlas 101060835 3119