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the 8th letter of the Roman alphabet (同)h

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hydrogenの化学記号
鉛筆の硬度 / 《俗》heroin

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/05/25 12:20:06」(JST)

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HLA class II histocompatibility antigen, DRB1 beta chain is a protein that in humans is encoded by the HLA-DRB1 gene.^[1] DRB1 encodes the most prevalent beta subunit of HLA-DR. Several alleles of DRB1 (shared epitope alleles)^[2] are associated with an increased incidence of rheumatoid arthritis.

Function

The protein encoded by this gene belongs to the HLA class II beta chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins to T helper cells. Class II molecules are constitutively expressed in professional antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages),^[1] and could be induced in non-professional APCs.

Gene structure and polymorphisms

The beta chain is approximately 26-28 kDa. It is encoded by 6 exons, exon one 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 DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Hundreds of DRB1 alleles have been described and typing for these polymorphisms is routinely done for bone marrow and kidney transplantation.^[1]

Gene expression

DRB1 is expressed at a level five times higher than its paralogues DRB3, DRB4 and DRB5. DRB1 is present in all individuals. Allelic variants of DRB1 are linked with either none or one of the genes DRB3, DRB4 and DRB5. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9.^[1]

References

^ ^a ^b ^c ^d "Entrez Gene: HLA-DRB1 major histocompatibility complex, class II, DR beta 1".
^ Gregersen PK, Silver J, Winchester RJ (Nov 1987). "The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis". Arthritis and Rheumatism 30 (11): 1205–13. doi:10.1002/art.1780301102. PMID 2446635.

UpToDate Contents

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1. 関節リウマチにおけるHLAおよびその他の感受性遺伝子 hla and other susceptibility genes in rheumatoid arthritis
2. リウマチ性多発筋痛の臨床症状および診断 clinical manifestations and diagnosis of polymyalgia rheumatica
3. ヒト白血球抗原（HLA）：ロードマップ human leukocyte antigens hla a roadmap
4. Autoimmune hepatitis: Pathogenesis
5. 巨細胞（側頭）動脈炎の病因 pathogenesis of giant cell temporal arteritis

English Journal

Predominance of DR3 in Somali children with type 1 diabetes in the twin cities, Minnesota.

Sunni M1, Noble JA2, Yu L3, Mahamed Z1, Lane JA2, Dhunkal AM1, Bellin MD1, Nathan B1, Kyllo J4, Abuzzahab MJ4, Gottlieb PA3, Babu S3, Armstrong T3, Moran A1.
Pediatric diabetes.Pediatr Diabetes.2017 Mar;18(2):136-142. doi: 10.1111/pedi.12369. Epub 2016 Feb 8.
BACKGROUND: Minnesota is home to the largest Somali population in USA, and pediatric diabetes teams are seeing increasing numbers of Somali children with diabetes.OBJECTIVE: To assess the immune basis of diabetes in Somali children in the Twin Cities, Minnesota.METHODS: A total of 31 Somali children
PMID 26854192

Human leucocyte antigens B*08, DRB1*03 and DRB1*13 are significantly associated with autoimmune liver and biliary diseases in Finnish children.

Ylinen E1,2, Salmela L3, Peräsaari J4, Jaatinen T4, Tenca A5, Vapalahti O6, Färkkilä M5, Jalanko H1, Kolho KL2.
Acta paediatrica (Oslo, Norway : 1992).Acta Paediatr.2017 Feb;106(2):322-326. doi: 10.1111/apa.13641. Epub 2016 Nov 16.
AIM: The human leucocyte antigen (HLA) allele and haplotype frequencies of the Finnish population are unique because of the restricted and homogenous gene population. There are no published data on HLA genotype associations in paediatric autoimmune liver diseases in Scandinavia. This study character
PMID 27759901

Japanese Journal

Vogt-小柳-原田病に続発した急性発症自己免疫性1型糖尿病の1例

辻英之 [他]
長崎醫學會雜誌 : Nagasaki Igakkai zasshi 86(3), 157-161, 2011-12-25
… 患者の同意を得、測定したHLAでは、A*1101 A*2402 B*3501 B*5401 C*0102 C*0303 DRB1*0405 DQB1*0401 DPB1*0501でVogt-小柳-原田病、1型糖尿病に疾患感受性のあるHLA DRB1*0405が陽性であった。 …
NAID 110008721260

A large-scale association study identified multiple HLA-DRB1 alleles associated with ACPA-negative rheumatoid arthritis in Japanese subjects.

Terao Chikashi,Ohmura Koichiro,Kochi Yuta,Ikari Katsunori,Maruya Etsuko,Katayama Masaki,Shimada Kota,Murasawa Akira,Honjo Shigeru,Takasugi Kiyoshi,Matsuo Keitaro,Tajima Kazuo,Suzuki Akari,Yamamoto Kazuhiko,Momohara Shigeki,Yamanaka Hisashi,Yamada Ryo,Saji Hiroo,Matsuda Fumihiko,Mimori Tsuneyo
Annals of the rheumatic diseases 70(12), 2134-2139, 2011-12
… [Background] HLA-DRB1 is associated with rheumatoid arthritis (RA). … However, it has recently been suggested that HLA-DRB1 is only associated with patients with RA who have anticitrullinated peptide/protein antibodies (ACPA), which are specific to RA. … [Objective] To elucidate whether specific HLA-DR alleles are associated with ACPA-negative RA development. …
NAID 120003796492

「HL」

major histocompatibility complex, class II, DR beta 1
Available structures
PDB	Human UniProt search: PDBe RCSB
List of PDB id codes
	1BX2, 1YMM, 2WBJ,%%s1A6A,%%s1AQD, 1DLH, 1FYT, 1HXY, 1JWM, 1JWS, 1JWU, 1KG0, 1KLG, 1KLU, 1LO5, 1PYW, 1R5I, 1SEB, 1SJE, 1SJH, 1T5W, 1T5X, 2FSE, 2G9H, 2IAM, 2IAN, 2ICW, 2IPK, 2OJE, 2XN9, 3L6F, 3PDO, 3PGC, 3PGD, 3QXA, 3QXD, 3S4S, 3S5L, 4AEN, 4AH2, 4C56, 4E41, 4FQX, 4GBX, 4I5B, 4OV5, 4X5W, 4X5X,%%s1D5M, 1D5X, 1D5Z, 1D6E, 1J8H, 2SEB, 3O6F, 3T0E, 4IS6, 4MCY, 4MCZ, 4MD0, 4MD4, 4MD5, 4MDI, 4MDJ, 4Y19, 4Y1A
Identifiers
Aliases	HLA-DRB1, DRB1, DRw10, HLA-DR1B, HLA-DRB, SS1, HLA-DRB1
External IDs	HomoloGene: 136635 GeneCards: 3123
Gene ontology
Molecular function	• peptide antigen binding; • MHC class II protein complex binding; • virus receptor activity; • protein binding; • MHC class II receptor activity;
Cellular component	• integral component of membrane; • endocytic vesicle membrane; • clathrin-coated endocytic vesicle membrane; • endosome; • Golgi apparatus; • trans-Golgi network membrane; • endoplasmic reticulum membrane; • membrane; • late endosome membrane; • Golgi membrane; • plasma membrane; • transport vesicle membrane; • MHC class II protein complex; • cell surface; • lysosomal membrane; • endoplasmic reticulum; • ER to Golgi transport vesicle membrane; • lysosome; • integral component of lumenal side of endoplasmic reticulum membrane; • endosome membrane; • extracellular exosome; • external side of plasma membrane; • integral component of plasma membrane; • extracellular space;
Biological process	• antigen processing and presentation; • polysaccharide assembly with MHC class II protein complex; • antigen processing and presentation of exogenous peptide antigen via MHC class II; • cytokine-mediated signaling pathway; • interferon-gamma-mediated signaling pathway; • immune system process; • T cell costimulation; • antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; • immune response; • T cell receptor signaling pathway; • immunoglobulin production involved in immunoglobulin mediated immune response; • humoral immune response mediated by circulating immunoglobulin; • peptide antigen assembly with MHC class II protein complex; • negative regulation of interferon-gamma production; • inflammatory response to antigenic stimulus; • protein tetramerization; • regulation of interleukin-4 production; • negative regulation of T cell proliferation; • detection of bacterium; • T-helper 1 type immune response; • viral entry into host cell; • positive regulation of insulin secretion involved in cellular response to glucose stimulus; • viral process; • regulation of interleukin-10 secretion; • negative regulation of inflammatory response to antigenic stimulus; • signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	3123
	n/a
	n/a
	n/a
P01911; P01912; P04229; P20039; Q29974;
	Q30134; Q5Y7A7; Q95IE3; Q9GIY3; P13761; Q9TQE0; Q30167; P13760
	n/a
	NM_002124; NM_001243965
	n/a
	NP_002115.2; NP_001230894.1; NP_002115.2
	n/a
	Wikidata
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