HLA-DQB1 - major histocompatibility complex, class II, DQ beta 1 Gene
Also Known as IDDM1; CELIAC1; HLA-DQB
Species: Homo sapiens
About HLA-DQB1
This gene has 9 transcripts (splice variants), 1 gene allele, 128 orthologues, 13 paralogues and is associated with 11 phenotypes. Broad expression in lung (RPKM 158.2), lymph node (RPKM 135.4) and 19 other tissues.
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]
HLA-DQB1 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001243961.2 | NP_001230890.1 | HLA class II histocompatibility antigen, DQ beta 1 chain isoform 2 precursor |
| NM_001243962.1 | NP_001230891.1 | HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor |
| NM_002123.5 | NP_002114.3 | HLA class II histocompatibility antigen, DQ beta 1 chain isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14769912 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in T cell receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
32341563 | GOA |
| involved in antigen processing and presentation of exogenous peptide antigen via MHC class II |
IDA
IDA: Inferred from direct assay
|
32341563 | GOA |
| involved in humoral immune response |
IMP
IMP: Inferred from mutant phenotype
|
17050030 | GOA |
HLA-DQB1 Protein Structure
MHC_II_beta: Class II histocompatibility antigen, beta domain (46 - 117)
C1-set: Immunoglobulin C1-set domain (136 - 217)
- 0
- 100
- 200
- 269 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
HLA class II histocompatibility antigen, DQ beta 1 chain |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Celiac Disease 1 |
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| Creutzfeldt-Jakob Disease |
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| Multiple Sclerosis |
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| Bullous Pemphigoid |
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| Pediatric Multiple Sclerosis |
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| Achalasia |
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| Narcolepsy 1 |
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| Narcolepsy 2 |
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| Dermatitis Herpetiformis |
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| Pityriasis Rosea |
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| Hypersomnia |
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| Focal Epithelial Hyperplasia |
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| Sialadenitis |
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| Type 1 Diabetes Mellitus |
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| Idiopathic Hypersomnia |
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| Panuveitis |
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| Immunoglobulin Alpha Deficiency |
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| Guillain-Barre Syndrome |
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| Autoimmune Hepatitis |
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| Pemphigoid |
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| Recurrent Hypersomnia |
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| Juvenile Rheumatoid Arthritis |
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| Headache |
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| Chronic Beryllium Disease |
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| Rheumatic Heart Disease |
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| Narcolepsy |
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| Rheumatic Fever |
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| Graves' Disease |
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| Autoimmune Disease |
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| Optic Neuritis |
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| Kleine-Levin Hibernation Syndrome |
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| Neuromyelitis Optica |
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| Osteonecrosis Of The Jaw |
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| Pemphigus |
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| Myasthenia Gravis |
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| Middle East Respiratory Syndrome |
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| Type 1 Diabetes Mellitus 5 |
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| Influenza |
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| Pulmonary Tuberculosis |
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| Rubella |
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| Japanese Encephalitis |
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| Echinococcosis |
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| Periodic Limb Movement Disorder |
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| Chronic Urticaria |
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| Arthritis |
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| Typhoid Fever |
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| Thyroiditis |
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| Lyme Disease |
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| Mumps |
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| Lambert-Eaton Myasthenic Syndrome |
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| Alopecia Areata |
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| Silicosis |
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| Sleep Disorder |
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| Podoconiosis |
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| Calcinosis |
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| Pneumoconiosis |
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| Pelvic Inflammatory Disease |
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| Toxoplasmosis |
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| Cytomegalovirus Retinitis |
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| Apple Allergy |
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| Cholangitis |
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| Sarcoid Meningitis |
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| Visceral Leishmaniasis |
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| Endometritis |
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| Trachoma |
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| Diabetes Mellitus |
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| Viral Hepatitis |
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| Cervical Cancer |
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| Systemic Lupus Erythematosus |
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| Common Variable Immunodeficiency |
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| Dilated Cardiomyopathy |
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| Persian Gulf Syndrome |
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| Cicatricial Pemphigoid |
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| Sarcoidosis 1 |
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| Autoimmune Disease Of Endocrine System |
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| Hypothyroidism |
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| Bullous Skin Disease |
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| Rheumatoid Arthritis |
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| Solid Adenocarcinoma With Mucin Production |
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| Severe Cutaneous Adverse Reaction |
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| Vogt-Koyanagi-Harada Disease |
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| Autoimmune Disease Of Gastrointestinal Tract |
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| Schizophrenia |
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| Asthma |
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| Dystonia |
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| Immune Deficiency Disease |
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| Cerebral Palsy |
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| Behcet Syndrome |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | HLA-DQB1 | MGD | MGI:103070 |
| Rattus norvegicus | HLA-DQB1 | RGD | RGD:3469 |