HLA-DQB1

HLA-DQB1
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	1JK8, 1S9V, 1UVQ, 2NNA, 4GG6
Identifikatori
Aliasi	HLA-DQB1
Vanjski ID-jevi	OMIM: 604305 MGI: 103070 HomoloGene: 1603 GeneCards: HLA-DQB1
Lokacija gena (čovjek)
Hrom.	Hromosom 6 (čovjek)
Kraj	32,668,383 bp
Lokacija gena (miš)
Hrom.	Hromosom 17 (miš)
Kraj	34,488,393 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• peptide antigen binding; • MHC class II receptor activity; • GO:0001948, GO:0016582 vezivanje za proteine;
Ćelijska komponenta	• integral component of membrane; • endocytic vesicle membrane; • clathrin-coated endocytic vesicle membrane; • endozom; • Golđijev aparat; • trans-Golgi network membrane; • endoplasmic reticulum membrane; • membrana; • Golđijeva membrana; • ćelijska membrana; • transport vesicle membrane; • MHC class II protein complex; • lysosomal membrane; • Endoplazmatski retikulum; • ER to Golgi transport vesicle membrane; • Lizozom; • integral component of lumenal side of endoplasmic reticulum membrane; • endosome membrane;
Biološki proces	• antigen processing and presentation; • antigen processing and presentation of exogenous peptide antigen via MHC class II; • interferon-gamma-mediated signaling pathway; • immunoglobulin production involved in immunoglobulin-mediated immune response; • immune system process; • T cell costimulation; • antigen processing and presentation of peptide or polysaccharide antigen via MHC class II; • humoral immune response mediated by circulating immunoglobulin; • GO:0046730, GO:0046737, GO:0046738, GO:0046736 Imuni odgovor; • T cell receptor signaling pathway; • adaptive immune response;
	Izvori:Amigo / QuickGO
Ortolozi
	3119
	14961
ENSG00000233209; ENSG00000206237; ENSG00000231286; ENSG00000206302; ENSG00000179344;
	ENSG00000231939; ENSG00000225824
	ENSMUSG00000073421
	P01920
P14483; P01921; P06342; P06343; P06345;
	P06346
	NM_002123; NM_001243961; NM_001243962
	NM_207105
	NP_001230890; NP_001230891; NP_002114
	NP_996988
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

DQ beta 1 klase II glavnog kompleksa histokompatibilnosti, znan i kao HLA-DQB1, ljudski gen sa hromosoma 6 , na istoimenom lokusu.^[5] Protein kodiran ovim genom je jedan od dva proteina koji su potrebni za formiranje heterodimera DQ, imunskog receptora ćelijske površine esencijalnog za funkciju imunskog sistema.

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 261 aminokiselina, a molekulska težina 29.991 Da.^[6]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MSWKKALRIP	GGLRAATVTL	MLAMLSTPVA	EGRDSPEDFV	YQFKAMCYFT
NGTERVRYVT	RYIYNREEYA	RFDSDVEVYR	AVTPLGPPDA	EYWNSQKEVL
ERTRAELDTV	CRHNYQLELR	TTLQRRVEPT	VTISPSRTEA	LNHHNLLVCS
VTDFYPAQIK	VRWFRNDQEE	TTGVVSTPLI	RNGDWTFQIL	VMLEMTPQHG
DVYTCHVEHP	SLQNPITVEW	RAQSESAQSK	MLSGIGGFVL	GLIFLGLGLI
IHHRSQKGLL	H

Funkcija

HLA-DQB1 pripada HLA klasi II beta lancu paraloga. Ova molekula klase II je heterodimer koji se sastoji od alfa (DQA) i beta lanca (DQB), oba usidrena u membrani. Ima centralnu ulogu u imunskom sistemu, predstavljajući peptide izvedene iz vanćelijskih proteina. Molekule klase II se eksprimiraju u ćelije koje prezentiraju antigen (APC: B-limfociti, dendritske ćelije, makrofagi).^[5]

Struktura gena i polimorfizmi

Beta-lanac je težak otprilike 26-28 kDa i sadrži šest egzona. Egzon 1 kodira vodeći peptid, egzoni 2 i 3 kodiraju dva vanćelijskaa proteinska domena, egzon 4 kodira transmembranski domen, a egzon 5 kodira citoplazmatski rep. Unutar DQ molekula, i alfa lanac i beta lanac sadrže polimorfizme koji određuju specifičnosti vezivanja peptida, što rezultira do četiri različite molekule. Tipizacija za ove polimorfizme se rutinski radi za transplantaciju koštane srži.^[5]^[7]

Pridruženje bolesti

Dijabetes

Nekoliko alela HLA-DQB1 povezano je sa povećanim rizikom od razvoja dijabetesa tipa 1.^[8]^[9]^[10] Lokus također ima genetički naziv IDDM1 jer predstavlja najveći genetički rizik za dijabetes tipa 1. Opet, aleli DQB1*0201 i DQB1*0302, posebno fenotip DQB1*0201/*0302, imaju visok rizik od kasnog početka dijabetesa tipa 1. Rizik se djelimično dijeli sa HLA-DR lokusom (DR3 i DR4 serotipovi).

Celijakija

Celijakija1 je genetički naziv za DQB1, HLA DQB1*0201, *0202 i *0302 koji kodiraju gene koji posreduju autoimunsku celijakiju. Homozigoti DQB1*0201 imaju veći rizik od razvoja celijakije, u odnosu na bilo koji drugi genski lokus.^[11]

Multipla skleroza

Određeni aleli HLA-DQB1 povezani su također sa umjereno povećanim rizikom od multiple skleroze.^[12]^[13]

Narkolepsija

Ostali aleli HLA-DQB1 povezani su sa predispozicijom za narkolepsiju,^[14] konkretno HLA-DQB1*0602, koji nosi preko 90% pacijenata sa narkolepsijom-katapleksijom.^[15]

Aleli

HLA-DQB1 aleli
Serotip	DQB1 alel
DQ2	*0201
	*0202
	*0203
DQ4	*0401
DQ4	*0402
DQ5	*0501
	*0502
	*0503
	*0504
DQ6	*0601
	*0602
	*0603
	*0604
	*0605
	*0609
DQ7	*0301
DQ7	*0304
DQ8	*0302
DQ8	*0305
DQ9	*0303

Također pogledajte

Reference

^ ^a ^b ^c ENSG00000206237, ENSG00000231286, ENSG00000206302, ENSG00000179344, ENSG00000231939, ENSG00000225824 GRCh38: Ensembl release 89: ENSG00000233209, ENSG00000206237, ENSG00000231286, ENSG00000206302, ENSG00000179344, ENSG00000231939, ENSG00000225824 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000073421 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b ^c [https://www.ncbi.nlm.nih.gov/sites/entrez?%5d Db=gene&Cmd=ShowDetailView&TermToSearch=3119 "Entrez Gene: HLA-DQB1 major histocompatibility complex, class II, DQ beta 1"] Provjerite vrijednost parametra |url= (pomoć). line feed character u |url= na mjestu 44 (pomoć)
^ Greška kod citiranja: Nevaljana oznaka <ref>; nije naveden tekst za reference s imenom entrez
^ Lau M, Terasaki PI, Park MS (1994). "International Cell Exchange, 1994". Clinical Transplants: 467–88. PMID 7547576.
^ 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.
^ Todd JA (mart 1997). "Genetics of type 1 diabetes". Pathologie-Biologie. 45 (3): 219–27. PMID 9296067.
^ 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.
^ Murray JA, Moore SB, Van Dyke CT, Lahr BD, Dierkhising RA, Zinsmeister AR, Melton LJ, Kroning CM, El-Yousseff M, Czaja AJ (decembar 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.
^ 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.
^ Schmidt H, Williamson D, Ashley-Koch A (maj 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.
^ Kadotani H, Faraco J, Mignot E (maj 1998). "Genetic studies in the sleep disorder narcolepsy". Genome Research. 8 (5): 427–34. doi:10.1101/gr.8.5.427. PMID 9582188.
^ "Narcolepsy Research - FAQs".

Vanjski linkovi

P01920

[refGRCh38Ensembl-1] ENSG00000206237, ENSG00000231286, ENSG00000206302, ENSG00000179344, ENSG00000231939, ENSG00000225824 GRCh38: Ensembl release 89: ENSG00000233209, ENSG00000206237, ENSG00000231286, ENSG00000206302, ENSG00000179344, ENSG00000231939, ENSG00000225824 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000073421 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Entrez_Gene_3119-5] [https://www.ncbi.nlm.nih.gov/sites/entrez?%5d Db=gene&Cmd=ShowDetailView&TermToSearch=3119 "Entrez Gene: HLA-DQB1 major histocompatibility complex, class II, DQ beta 1"] Provjerite vrijednost parametra |url= (pomoć). line feed character u |url= na mjestu 44 (pomoć)

[entrez-6] Greška kod citiranja: Nevaljana oznaka <ref>; nije naveden tekst za reference s imenom entrez

[pmid7547576-7] Lau M, Terasaki PI, Park MS (1994). "International Cell Exchange, 1994". Clinical Transplants: 467–88. PMID 7547576.

[pmid2187469-8] 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.

[pmid9296067-9] Todd JA (mart 1997). "Genetics of type 1 diabetes". Pathologie-Biologie. 45 (3): 219–27. PMID 9296067.

[pmid11237226-10] 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.

[pmid17919990-11] Murray JA, Moore SB, Van Dyke CT, Lahr BD, Dierkhising RA, Zinsmeister AR, Melton LJ, Kroning CM, El-Yousseff M, Czaja AJ (decembar 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.

[pmid9300661-12] 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.

[pmid17329717-13] Schmidt H, Williamson D, Ashley-Koch A (maj 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.

[pmid9582188-14] Kadotani H, Faraco J, Mignot E (maj 1998). "Genetic studies in the sleep disorder narcolepsy". Genome Research. 8 (5): 427–34. doi:10.1101/gr.8.5.427. PMID 9582188.

[15] "Narcolepsy Research - FAQs".

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