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{{Infobox_gene}}
{{PBB_Controls
'''Major histocompatibility complex, class II, DQ beta 1''', also known as '''HLA-DQB1''', is a human [[gene]] and also denotes the genetic [[locus (genetics)|locus]] that contains this gene.<ref name = "Entrez_Gene_3119">{{cite web | title = Entrez Gene: HLA-DQB1 major histocompatibility complex, class II, DQ beta 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3119| accessdate = }}</ref> The [[protein]] encoded by this gene is one of two proteins that are required to form the [[HLA-DQ|DQ heterodimer]], a cell surface [[immune receptor|receptor]] essential to the function of the [[immune system]].
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image = 
| image_source = 
| Name = Major histocompatibility complex, class II, DQ beta 1
| HGNCid = 4944
| Symbol = HLA-DQB1
| AltSymbols =; CELIAC1; HLA-DQB; IDDM1
| OMIM = 604305
| ECnumber = 
| Homologene = 
| MGIid = 
| GeneAtlas_image1 = PBB_GE_HLA-DQB1_209823_x_at_tn.png
| GeneAtlas_image2 = PBB_GE_HLA-DQB1_211656_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_HLA-DQB1_212998_x_at_tn.png
| Function = {{GNF_GO|id=GO:0005525 |text = GTP binding}} {{GNF_GO|id=GO:0032395 |text = MHC class II receptor activity}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0042613 |text = MHC class II protein complex}}
| Process = {{GNF_GO|id=GO:0002504 |text = antigen processing and presentation of peptide or polysaccharide antigen via MHC class II}} {{GNF_GO|id=GO:0006955 |text = immune response}} {{GNF_GO|id=GO:0007049 |text = cell cycle}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 3119
    | Hs_Ensembl = ENSG00000206237
    | Hs_RefseqProtein = NP_002114
    | Hs_RefseqmRNA = NM_002123
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = c6_COX
    | Hs_GenLoc_start = 32697517
    | Hs_GenLoc_end = 32704934
    | Hs_Uniprot = P01918
    | Mm_EntrezGene = 
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = 
    | Mm_RefseqProtein = 
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Major histocompatibility complex, class II, DQ beta 1''', also known as '''HLA-DQB1''', is a human [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
HLA-DQB1 belongs to the [[MHC class II|HLA class II]] beta chain [[Homology (biology)#Paralogy|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).<ref name = "Entrez_Gene_3119"/>
| section_title =  
| summary_text = 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). The beta chain is approximately 26-28 kDa and it contains 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 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.<ref>{{cite web | title = Entrez Gene: HLA-DQB1 major histocompatibility complex, class II, DQ beta 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3119| accessdate = }}</ref>
}}


==See also==
==Gene structure and polymorphisms==
The beta chain is approximately 26-28 kDa and it contains 5 [[exon]]s. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular [[protein domain]]s, exon 4 encodes the [[transmembrane protein|transmembrane]] domain, and exon 5 encodes the [[cytoplasm]]ic tail. Within the DQ molecule, both the alpha chain and the beta chain contain the [[polymorphism (biology)|polymorphism]]s specifying the peptide binding specificities, resulting in up to 4 different molecules. Typing for these polymorphisms is routinely done for [[hematopoietic stem cell transplantation|bone marrow transplantation]].<ref name = "Entrez_Gene_3119"/><ref name="pmid7547576">{{cite journal | vauthors = Lau M, Terasaki PI, Park MS | title = International Cell Exchange, 1994 | journal = Clinical Transplants | volume =  | issue =  | pages = 467–88 | year = 1994 | pmid = 7547576 | doi =  }}</ref>
 
==Disease association==
 
===Diabetes===
Several [[allele]]s of HLA-DQB1 are associated with an increased risk of developing [[diabetes mellitus type 1|type 1 diabetes]].<ref name="pmid2187469">{{cite journal | vauthors = Todd JA | title = Genetic control of autoimmunity in type 1 diabetes | journal = Immunology Today | volume = 11 | issue = 4 | pages = 122–9 | date = April 1990 | pmid = 2187469 | doi = 10.1016/0167-5699(90)90049-F }}</ref><ref name="pmid9296067">{{cite journal | vauthors = Todd JA | title = Genetics of type 1 diabetes | journal = Pathologie-Biologie | volume = 45 | issue = 3 | pages = 219–27 | date = March 1997 | pmid = 9296067 | doi =  }}</ref><ref name="pmid11237226">{{cite journal | vauthors = Redondo MJ, Fain PR, Eisenbarth GS | title = Genetics of type 1A diabetes | journal = Recent Progress in Hormone Research | volume = 56 | issue =  | pages = 69–89 | year = 2001 | pmid = 11237226 | doi = 10.1210/rp.56.1.69 }}</ref>  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 disease|autoimmune]] [[coeliac disease]]. Homozygotes of DQB1*0201 have a higher risk of developing the celiac disease, relative to any other genetic locus.<ref name="pmid17919990">{{cite journal | vauthors = Murray JA, Moore SB, Van Dyke CT, Lahr BD, Dierkhising RA, Zinsmeister AR, Melton LJ, Kroning CM, El-Yousseff M, Czaja AJ | title = HLA DQ gene dosage and risk and severity of celiac disease | journal = Clinical Gastroenterology and Hepatology | volume = 5 | issue = 12 | pages = 1406–12 | date = December 2007 | pmid = 17919990 | pmc = 2175211 | doi = 10.1016/j.cgh.2007.08.013 }}</ref>
 
===Multiple sclerosis===
Certain HLA-DQB1 alleles are also linked to a modest increased risk of [[multiple sclerosis]].<ref name="pmid9300661">{{cite journal | vauthors = Dyment DA, Sadovnick AD, Ebers GC, Sadnovich AD | title = Genetics of multiple sclerosis | journal = Human Molecular Genetics | volume = 6 | issue = 10 | pages = 1693–8 | year = 1997 | pmid = 9300661 | doi = 10.1093/hmg/6.10.1693 }}</ref><ref name="pmid17329717">{{cite journal | vauthors = Schmidt H, Williamson D, Ashley-Koch A | title = HLA-DR15 haplotype and multiple sclerosis: a HuGE review | journal = American Journal of Epidemiology | volume = 165 | issue = 10 | pages = 1097–109 | date = May 2007 | pmid = 17329717 | doi = 10.1093/aje/kwk118 }}</ref>
 
===Narcolepsy===
Other HLA-DQB1 alleles are associated with a predisposition to [[narcolepsy]],<ref name="pmid9582188">{{cite journal | vauthors = Kadotani H, Faraco J, Mignot E | title = Genetic studies in the sleep disorder narcolepsy | journal = Genome Research | volume = 8 | issue = 5 | pages = 427–34 | date = May 1998 | pmid = 9582188 | doi = 10.1101/gr.8.5.427 }}</ref> specifically HLA-DQB1*0602, which is carried by over 90% of patients with narcolepsy-cataplexy.<ref>{{cite web|title=Narcolepsy Research - FAQs|url=http://med.stanford.edu/psychiatry/narcolepsy/faq1.html|accessdate=3 January 2014}}</ref>
 
==Alleles==
{| class = "wikitable"
|+ HLA-DQB1 alleles
! Serotype || DQB1 allele
|-
| Rowspan = 3 | [[HLA-DQ2|DQ2]] ||[[HLA-DQ2#DQB1*0201|*0201]]
|-
|[[HLA-DQ2#DQB1*0202|*0202]]
|-
|[[HLA-DQ2#DQB1*0203|*0203]]
|-
| Rowspan = 2 | [[HLA-DQ4|DQ4]] ||[[HLA-DQ4#DQB1*0401|*0401]]
|-
|[[HLA-DQ4#DQB1*0402|*0402]]
|-
| Rowspan = 4 | [[HLA-DQ5|DQ5]] ||[[HLA-DQ5#DQB1*0501|*0501]]
|-
|[[HLA-DQ5#DQB1*0502|*0502]]
|-
|[[HLA-DQ5#DQB1*0503|*0503]]
|-
|[[HLA-DQ5#DQB1*0504|*0504]]
|-
| Rowspan = 6 | [[HLA-DQ6|DQ6]] ||[[HLA-DQ6#DQB1*0601|*0601]]
|-
|[[HLA-DQ6#DQB1*0602|*0602]]
|-
|[[HLA-DQ6#DQB1*0603|*0603]]
|-
|[[HLA-DQ6#DQB1*0604|*0604]]
|-
|[[HLA-DQ6#DQB1*0605|*0605]]
|-
|[[HLA-DQ6#DQB1*0609|*0609]]
|-
| Rowspan = 2 | [[HLA-DQ7|DQ7]] ||[[HLA-DQ7#DQB1*0301|*0301]]
|-
|[[HLA-DQ7#DQB1*0304|*0304]]
|-
| Rowspan = 2 | [[HLA-DQ8|DQ8]] ||[[HLA-DQ8#DQB1*0302|*0302]]
|-
|[[HLA-DQ8#DQB1*0305|*0305]]
|-
|[[HLA-DQ9|DQ9]]||[[HLA-DQ9#DQB1*0303|*0303]]
|}
 
== See also ==
* [[Major histocompatibility complex]]
* [[Major histocompatibility complex]]
* [[Human leukocyte antigen]]
* [[Human leukocyte antigen]]
* [[HLA-DQ]]
* [[HLA-DQ]]


==References==
== References ==
{{reflist|2}}
{{reflist|30em}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Todd JA |title=Genetic control of autoimmunity in type 1 diabetes. |journal=Immunol. Today |volume=11 |issue= 4 |pages= 122-9 |year= 1990 |pmid= 2187469 |doi=  }}
*{{cite journal  | author=Lau M, Terasaki PI, Park MS |title=International Cell Exchange, 1994. |journal=Clinical transplants |volume= |issue=  |pages= 467-88 |year= 1995 |pmid= 7547576 |doi=  }}
*{{cite journal  | author=Todd JA |title=Genetics of type 1 diabetes. |journal=Pathol. Biol. |volume=45 |issue= 3 |pages= 219-27 |year= 1997 |pmid= 9296067 |doi=  }}
*{{cite journal  | author=Schmidt H, Williamson D, Ashley-Koch A |title=HLA-DR15 haplotype and multiple sclerosis: a HuGE review. |journal=Am. J. Epidemiol. |volume=165 |issue= 10 |pages= 1097-109 |year= 2007 |pmid= 17329717 |doi= 10.1093/aje/kwk118 }}
}}
{{refend}}


{{PDB_Gallery|geneid=3119}}
{{Surface antigens}}


[[Category:MHC Class II]]


[[Category:MHC Class II]]
[[Category:Proteins]]


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Latest revision as of 00:18, 27 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.

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

References

  1. ↑ 1.0 1.1 1.2 "Entrez Gene: HLA-DQB1 major histocompatibility complex, class II, DQ beta 1".
  2. ↑ Lau M, Terasaki PI, Park MS (1994). "International Cell Exchange, 1994". Clinical Transplants: 467–88. PMID 7547576.
  3. ↑ Todd JA (April 1990). "Genetic control of autoimmunity in type 1 diabetes". Immunology Today. 11 (4): 122–9. doi:10.1016/0167-5699(90)90049-F. PMID 2187469.
  4. ↑ Todd JA (March 1997). "Genetics of type 1 diabetes". Pathologie-Biologie. 45 (3): 219–27. PMID 9296067.
  5. ↑ Redondo MJ, Fain PR, Eisenbarth GS (2001). "Genetics of type 1A diabetes". Recent Progress in Hormone Research. 56: 69–89. doi:10.1210/rp.56.1.69. PMID 11237226.
  6. ↑ Murray JA, Moore SB, Van Dyke CT, Lahr BD, Dierkhising RA, Zinsmeister AR, Melton LJ, Kroning CM, El-Yousseff M, Czaja AJ (December 2007). "HLA DQ gene dosage and risk and severity of celiac disease". Clinical Gastroenterology and Hepatology. 5 (12): 1406–12. doi:10.1016/j.cgh.2007.08.013. PMC 2175211. PMID 17919990.
  7. ↑ Dyment DA, Sadovnick AD, Ebers GC, Sadnovich AD (1997). "Genetics of multiple sclerosis". Human Molecular Genetics. 6 (10): 1693–8. doi:10.1093/hmg/6.10.1693. PMID 9300661.
  8. ↑ Schmidt H, Williamson D, Ashley-Koch A (May 2007). "HLA-DR15 haplotype and multiple sclerosis: a HuGE review". American Journal of Epidemiology. 165 (10): 1097–109. doi:10.1093/aje/kwk118. PMID 17329717.
  9. ↑ Kadotani H, Faraco J, Mignot E (May 1998). "Genetic studies in the sleep disorder narcolepsy". Genome Research. 8 (5): 427–34. doi:10.1101/gr.8.5.427. PMID 9582188.
  10. ↑ "Narcolepsy Research - FAQs". Retrieved 3 January 2014.


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