HLA-DRB4

DR beta 4 klase II glavnog kompleksa histokompatibilnosti , znan i kao HLA-DRB4, jest ljudski gen sa hromosoma 6.

HLA-DRB4
Identifikatori
Aliasi	HLA-DRB4
Vanjski ID-jevi	GeneCards: HLA-DRB4
Lokacija gena (čovjek) Hrom. Hromosom 6 (čovjek) Bend 6p21.3 Početak 32,542,662 bp Kraj 32,557,610 bp
Ortolozi
Vrste	Čovjek	Miš
Entrez	3126	n/a
Ensembl	n/a	n/a
UniProt	P13762	n/a
RefSeq (mRNK)	NM_021983	n/a
RefSeq (bjelančevina)	NP_068818	n/a
Lokacija (UCSC)	Chr 6: 32.54 – 32.56 Mb	n/a
PubMed pretraga		n/a
Wikipodaci
Pogledaj/uredi – čovjek

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 266 aminokiselina, a molekulska težina 29.941 Da.

• 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
MVCLKLPGGS		CMAALTVTLT		VLSSPLALAG		DTQPRFLEQA		KCECHFLNGT
ERVWNLIRYI		YNQEEYARYN		SDLGEYQAVT		ELGRPDAEYW		NSQKDLLERR
RAEVDTYCRY		NYGVVESFTV		QRRVQPKVTV		YPSKTQPLQH		HNLLVCSVNG
FYPGSIEVRW		FRNGQEEKAG		VVSTGLIQNG		DWTFQTLVML		ETVPRSGEVY
TCQVEHPSMM		SPLTVQWSAR		SESAQSKMLS		GVGGFVLGLL		FLGTGLFIYF
RNQKGHSGLQ		PTGLLS

Funkcija

Protein kodiran ovim genom pripada HLA klasi II beta lanca paraloga. Molekula klase II je heterodimer koji se sastoji od alfa (DRA) i beta lanca (DRB), oba usidrena u membrani. Ima centralnu ulogu u imunskom sistemu prezentirajući peptide izvedene iz vanćelijskih proteina. Molekule klase II eksprimirane su u ćelijama koje prezentiraju antigen (APC: B limfociti, dendritske ćelije, makrofagi).

Struktura gena i polimorfizmi

Beta lanac je velik otprilike 26-28 kDa. Kodira ga šest egzona; egzon 1 kodira vodeći peptid, egzoni 2 i 3 kodiraju dva vanćelijskaa domene, egzon 4 kodira transmembranski domen i egzon 5 kodira citoplazmatski rep. Unutar DR molekula, beta lanac sadrži sve polimorfizme koji odrteđuju specifičnosti vezivanja peptida. Opisane su stotine DRB1 alela, a tipizacija za ove polimorfizme radi se rutinski za transplantaciju koštane srži i bubrega.

Ekspresija gena

DRB1 eksprimiran je na nivou pet puta većem od njegovih paraloga DRB3, DRB4 i DRB5. DRB1 je prisutan kod svih osoba. Alelne varijante DRB1 su povezane ni sa jednim ili sa jednim od gena DRB3, DRB4 i DRB5. Postoje četiri povezana pseudogena: DRB2, DRB6, DRB7, DRB8 i DRB9.

Također pogledajte

• HLA-DR

Dopunska literatura

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