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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/10/08 21:57:00」(JST)
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Major histocompatibility complex, class II, DQ beta 1 |
Structure of HLA-DQB1 (green) complexed with HLA-DQA1 (cyan) and HCRT (magenta) based on PDB: 1uvq.
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Available structures |
PDB |
Ortholog search: PDBe, RCSB |
List of PDB id codes |
1JK8, 1NBN, 1S9V, 1UVQ, 2NNA, 4GG6, 4OZF, 4OZG, 4OZH, 4OZI
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Identifiers |
Symbols |
HLA-DQB1 ; CELIAC1; HLA-DQB; IDDM1 |
External IDs |
OMIM: 604305 HomoloGene: 1603 GeneCards: HLA-DQB1 Gene |
Gene ontology |
Molecular function |
• MHC class II receptor activity
• peptide antigen binding
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Cellular component |
• Golgi membrane
• lysosomal membrane
• plasma membrane
• endosome membrane
• ER to Golgi transport vesicle membrane
• membrane
• transport vesicle membrane
• endocytic vesicle membrane
• clathrin-coated endocytic vesicle membrane
• trans-Golgi network membrane
• MHC class II protein complex
• integral component of lumenal side of endoplasmic reticulum membrane
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Biological process |
• immunoglobulin production involved in immunoglobulin mediated immune response
• humoral immune response mediated by circulating immunoglobulin
• immune response
• cytokine-mediated signaling pathway
• antigen processing and presentation of exogenous peptide antigen via MHC class II
• T cell costimulation
• T cell receptor signaling pathway
• interferon-gamma-mediated signaling pathway
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Sources: Amigo / QuickGO |
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RNA expression pattern |
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More reference expression data |
Orthologs |
Species |
Human |
Mouse |
Entrez |
3119 |
14961 |
Ensembl |
ENSG00000179344 |
ENSMUSG00000073421 |
UniProt |
P01920 |
P14483 |
RefSeq (mRNA) |
NM_001243961 |
NM_207105 |
RefSeq (protein) |
NP_001230890 |
NP_996988 |
Location (UCSC) |
Chr 6:
32.66 – 32.67 Mb |
Chr 17:
34.26 – 34.27 Mb |
PubMed search |
[1] |
[2] |
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Major histocompatibility complex, class II, DQ beta 1, also known as HLA-DQB1, is a human gene and also denotes the genetic locus that contains this gene.[1] The protein encoded by this gene is one of two proteins that are required to form the DQ heterodimer, a cell surface receptor essential to the function of the immune system.
Contents
- 1 Function
- 2 Gene structure and polymorphisms
- 3 Disease association
- 3.1 Diabetes
- 3.2 Celiac disease
- 3.3 Multiple sclerosis
- 3.4 Narcolepsy
- 4 Alleles
- 5 See also
- 6 References
Function
HLA-DQB1 belongs to the HLA class II beta chain paralogues. 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).[1]
Gene structure and polymorphisms
The beta chain is approximately 26-28 kDa and it contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular protein 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 4 different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation.[1][2]
Disease association
Diabetes
Several alleles of HLA-DQB1 are associated with an increased risk of developing type 1 diabetes.[3][4][5] The locus also has the genetic name IDDM1 as it is the highest genetic risk for type 1 diabetes. Again the DQB1*0201 and DQB1*0302 alleles, particularly the phenotype DQB1*0201/*0302 has a high risk of late onset type 1 diabetes. The risk is partially shared with the HLA-DR locus (DR3 and DR4 serotypes).
Celiac disease
Celiac1 is a genetic name for DQB1, the HLA DQB1*0201, *0202, and *0302 encode genes that mediate the autoimmune coeliac disease. Homozygotes of DQB1*0201 have a higher risk of developing the celiac disease, relative to any other genetic locus.[6]
Multiple sclerosis
Certain HLA-DQB1 alleles are also linked to a modest increased risk of multiple sclerosis.[7][8]
Narcolepsy
Other HLA-DQB1 alleles are associated with a predisposition to narcolepsy,[9] specifically HLA-DQB1*0602, which is carried by over 90% of patients with narcolepsy-cataplexy.[10]
Alleles
HLA-DQB1 alleles
Serotype |
DQB1 allele |
DQ2 |
*0201 |
*0202 |
*0203 |
DQ4 |
*0401 |
*0402 |
DQ5 |
*0501 |
*0502 |
*0503 |
*0504 |
DQ6 |
*0601 |
*0602 |
*0603 |
*0604 |
*0605 |
*0609 |
DQ7 |
*0301 |
*0304 |
DQ8 |
*0302 |
*0305 |
DQ9 |
*0303 |
See also
- Major histocompatibility complex
- Human leukocyte antigen
- HLA-DQ
References
- ^ a b c "Entrez Gene: HLA-DQB1 major histocompatibility complex, class II, DQ beta 1".
- ^ Lau M, Terasaki PI, Park MS (1994). "International Cell Exchange, 1994". Clin Transpl: 467–88. PMID 7547576.
- ^ Todd JA (April 1990). "Genetic control of autoimmunity in type 1 diabetes". Immunol. Today 11 (4): 122–9. doi:10.1016/0167-5699(90)90049-F. PMID 2187469.
- ^ Todd JA (March 1997). "Genetics of type 1 diabetes". Pathol. Biol. 45 (3): 219–27. PMID 9296067.
- ^ Redondo MJ, Fain PR, Eisenbarth GS (2001). "Genetics of type 1A diabetes". Recent Prog. Horm. Res. 56: 69–89. doi:10.1210/rp.56.1.69. PMID 11237226.
- ^ Murray JA, Moore SB, Van Dyke CT, et al. (December 2007). "HLA DQ gene dosage and risk and severity of celiac disease". Clin. Gastroenterol. Hepatol. 5 (12): 1406–12. doi:10.1016/j.cgh.2007.08.013. PMC 2175211. PMID 17919990.
- ^ Dyment DA, Sadovnick AD, Ebers GC, Sadnovich AD (1997). "Genetics of multiple sclerosis". Hum. Mol. Genet. 6 (10): 1693–8. doi:10.1093/hmg/6.10.1693. PMID 9300661.
- ^ Schmidt H, Williamson D, Ashley-Koch A (May 2007). "HLA-DR15 haplotype and multiple sclerosis: a HuGE review". Am. J. Epidemiol. 165 (10): 1097–109. doi:10.1093/aje/kwk118. PMID 17329717.
- ^ Kadotani H, Faraco J, Mignot E (May 1998). "Genetic studies in the sleep disorder narcolepsy". Genome Res. 8 (5): 427–34. doi:10.1101/gr.8.5.427. PMID 9582188.
- ^ "Narcolepsy Research - FAQs". Retrieved 3 January 2014.
Surface antigens
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Major histocompatibility complex/
Human leukocyte antigen |
MHC class I |
- HLA-A
- HLA-B
- HLA-C
- HLA-E
- HLA-F
- HLA-G
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MHC class II |
- HLA-DM
- HLA-DO
- HLA-DP
- HLA-DQ
- HLA-DR
- Minor histocompatibility antigen
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Other |
- Arrestin
- Calgranulin
- Blood group antigens
- Cell adhesion molecules
- Differentiation antigens
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Index of the immune system
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Description |
- Physiology
- cells
- autoantigens
- autoantibodies
- complement
- surface antigens
- IG receptors
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Disease |
- Allergies
- Immunodeficiency
- Immunoproliferative immunoglobulin disorders
- Hypersensitivity and autoimmune disorders
- Neoplasms and cancer
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Treatment |
- Procedures
- Drugs
- antihistamines
- immunostimulants
- immunosuppressants
- monoclonal antibodies
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PDB gallery
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1jk8: Crystal structure of a human insulin peptide-HLA-DQ8 complex
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1s9v: Crystal structure of HLA-DQ2 complexed with deamidated gliadin peptide
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UpToDate Contents
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English Journal
- Usefulness of genetic characterization of narcolepsy and hypersomnia on phenotype definition: a study in Portuguese patients.
- Martins-da-Silva A, Lopes J, Ramalheira J, Carvalho C, Cunha D, Costa PP, Silva MB.Author information Hospital de Santo Antonio, Porto, Portugal.Abstractin
English, SpanishTITLE: Utilidad de la caracterizacion genetica de la narcolepsia y la hipersomnia en la definicion del fenotipo: estudio en pacientes portugueses.
- Revista de neurologia.Rev Neurol.2014 Jan 16;58(2):49-54.
- in
English, SpanishTITLE: Utilidad de la caracterizacion genetica de la narcolepsia y la hipersomnia en la definicion del fenotipo: estudio en pacientes portugueses.Introduccion. La determinacion del genotipo de los antigenos leucocitarios humanos (HLA) de clase II es un metodo muy difundido par
- A new allele, HLA-DQB1*05:50, identified by sequence-based typing in a Korean individual.
- Ko SY, Oh HB, Kwon OJ.Author information Department of Laboratory Medicine, College of Medicine, Korea University, Seoul, South Korea.AbstractThe new allele DQB1*05:50 showed one nucleotide difference with DQB1*05:03:01:01 at codon 39 (CGC/CAC).
- Tissue antigens.Tissue Antigens.2014 Jan 10. doi: 10.1111/tan.12286. [Epub ahead of print]
- The new allele DQB1*05:50 showed one nucleotide difference with DQB1*05:03:01:01 at codon 39 (CGC/CAC).© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
- PMID 24405479
Japanese Journal
- メディカル・トピックス ナルコレプシーは自己免疫疾患か (特集 睡眠障害診療の進歩)
- Evolutionary Analysis of Classical HLA Class I and II Genes Suggests That Recent Positive Selection Acted on DPB1*04∶01 in Japanese Population
Related Links
- ハプロタイプ推定ツール 検体・検査について 研究データ頻度検索 Haplotype/allele Freq. KIRリガンドマッチメーカー 論文・抄録 淳彦基金 医療従事者の方へトップ 個人の方へ 検体・検査について 個人の方へトップ HLAについて HLAとは
- 備考 曜日指定 凍結保存は避けてください。受託可能日は月~金曜日です。続柄・臨床診断名・投与薬剤名・輸血歴・移植歴は必ず明記してください。HLA検査2項目以上同時依頼の場合は血液2.0mLで検査可能です。本検査方法ではコンタ ...
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ヒト白血球抗原 human leukocyte antigen
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