HLA-DQB1

GENE INFORMATION

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Gene name

HLA-DQB1 (HGNC Symbol)

Synonyms

CELIAC1, HLA-DQB, IDDM1

Description

Major histocompatibility complex, class II, DQ beta 1 (HGNC Symbol)

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]

Chromosome

6

Cytoband

p21.32

Chromosome location (bp)

32659467 - 32668383

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000179344 (version 78.38)

Entrez gene

3119

UniProt

neXtProt

Antibodypedia

HLA-DQB1 antibodies
 

PROTEIN VIEW

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HLA-DQB1-001
 
HLA-DQB1-002
 
HLA-DQB1-003
 
HLA-DQB1-004
 
HLA-DQB1-007
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HLA-DQB1-001 ENSP00000407332
ENST00000434651
Q5Y7D6
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Show » Show » 261 29.8 Yes 1
HLA-DQB1-002 ENSP00000364080
ENST00000374943
Q5SU54
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Show » Show » 269 30.5 Yes 1
HLA-DQB1-003 ENSP00000382034
ENST00000399084
Q5Y7D6
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Show » Show » 261 29.8 Yes 1
HLA-DQB1-004 ENSP00000382029
ENST00000399079
A2AAZ0
Show all »
Show » Show » 224 26 Yes 0
HLA-DQB1-007 ENSP00000382032
ENST00000399082
A2AAY8
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Show » Show » 134 15.2 Yes 0