HLA-DRB4

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	[1]	n/a
Wikipodaci
Pogledaj/uredi – čovjek

DR beta 4 klase II glavnog kompleksa histokompatibilnosti , znan i kao HLA-DRB4, jest ljudski gen sa hromosoma 6.^[2]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 266 aminokiselina, a molekulska težina 29.941 Da.^[2]

• 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).^[2]

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.^[2]

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.^[2]

Također pogledajte

• HLA-DR

Reference

1. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
2. "Entrez Gene: HLA-DRB4 major histocompatibility complex, class II, DR beta 4".

Dopunska literatura

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• O'Brien RM, Cram DS, Russ GR, et al. (1992). "Nucleotide sequences of the HLA-DRw12 and DRw8 B1 chains from an Australian aborigine". Hum. Immunol. 34 (2): 147–51. doi:10.1016/0198-8859(92)90041-K. PMID 1358866.
• Kenter M, Otting N, Anholts J, et al. (1992). "Mhc-DRB diversity of the chimpanzee (Pan troglodytes)". Immunogenetics. 37 (1): 1–11. doi:10.1007/BF00223539. PMID 1428007. S2CID 26557301.
• Dong RP, Kimura A, Sasazuki T (1992). "Sequence analysis of three novel DRw14-DRB1 alleles". Immunogenetics. 36 (2): 130–3. doi:10.1007/BF00215291. PMID 1612646. S2CID 32928324.
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• Nong Y, Kandil O, Tobin EH, et al. (1991). "The HIV core protein p24 inhibits interferon-gamma-induced increase of HLA-DR and cytochrome b heavy chain mRNA levels in the human monocyte-like cell line THP1". Cell. Immunol. 132 (1): 10–6. doi:10.1016/0008-8749(91)90002-S. PMID 1905983.
• Rosenstein Y, Burakoff SJ, Herrmann SH (1990). "HIV-gp120 can block CD4-class II MHC-mediated adhesion". J. Immunol. 144 (2): 526–31. PMID 1967269.
• Callahan KM, Fort MM, Obah EA, et al. (1990). "Genetic variability in HIV-1 gp120 affects interactions with HLA molecules and T cell receptor". J. Immunol. 144 (9): 3341–6. PMID 1970352.
• Bowman MR, MacFerrin KD, Schreiber SL, Burakoff SJ (1991). "Identification and structural analysis of residues in the V1 region of CD4 involved in interaction with human immunodeficiency virus envelope glycoprotein gp120 and class II major histocompatibility complex molecules". Proc. Natl. Acad. Sci. U.S.A. 87 (22): 9052–6. doi:10.1073/pnas.87.22.9052. PMC 55099. PMID 1978941.
• Gyllensten UB, Sundvall M, Erlich HA (1991). "Allelic diversity is generated by intraexon sequence exchange at the DRB1 locus of primates". Proc. Natl. Acad. Sci. U.S.A. 88 (9): 3686–90. Bibcode:1991PNAS...88.3686G. doi:10.1073/pnas.88.9.3686. PMC 51517. PMID 2023919.
• Lee KW, Johnson AH, Hurley CK (1990). "Two divergent routes of evolution gave rise to the DRw13 haplotypes". J. Immunol. 145 (9): 3119–25. PMID 2212675.
• Gorski J (1989). "First domain sequence of the HLA-DRB1 chain from two HLA-DRw14 homozygous typing cell lines: TEM (Dw9) and AMALA (Dw16)". Hum. Immunol. 24 (2): 145–9. doi:10.1016/0198-8859(89)90054-2. PMID 2466818.
• Fan WM, Kasahara M, Gutknecht J, et al. (1990). "Shared class II MHC polymorphisms between humans and chimpanzees". Hum. Immunol. 26 (2): 107–21. doi:10.1016/0198-8859(89)90096-7. PMID 2511168.
• Clayton LK, Sieh M, Pious DA, Reinherz EL (1989). "Identification of human CD4 residues affecting class II MHC versus HIV-1 gp120 binding". Nature. 339 (6225): 548–51. Bibcode:1989Natur.339..548C. doi:10.1038/339548a0. PMID 2543930. S2CID 4246781.
• Abe A, Ito I, Ohkubo M, et al. (1990). "Two distinct subtypes of the HLA-DRw12 haplotypes in the Japanese population detected by nucleotide sequence analysis and oligonucleotide genotyping". Immunogenetics. 30 (6): 422–6. doi:10.1007/BF02421173. PMID 2592019. S2CID 30397455.
• Diamond DC, Sleckman BP, Gregory T, et al. (1988). "Inhibition of CD4+ T cell function by the HIV envelope protein, gp120". J. Immunol. 141 (11): 3715–7. PMID 2846691.
• Owerbach D, Rich C, Taneja K (1986). "Characterization of three HLA-DR beta genes isolated from an HLA-DR 3/4 insulin-dependent diabetic patient". Immunogenetics. 24 (1): 41–6. doi:10.1007/BF00372296. PMID 3015788. S2CID 19599710.
• Karr RW, Gregersen PK, Obata F, et al. (1986). "Analysis of DR beta and DQ beta chain cDNA clones from a DR7 haplotype". J. Immunol. 137 (9): 2886–90. PMID 3020127.
• Andersson G, Larhammar D, Widmark E, et al. (1987). "Class II genes of the human major histocompatibility complex. Organization and evolutionary relationship of the DR beta genes". J. Biol. Chem. 262 (18): 8748–58. doi:10.1016/S0021-9258(18)47480-7. PMID 3036826.
• Wu S, Saunders TL, Bach FH (1987). "Polymorphism of human Ia antigens generated by reciprocal intergenic exchange between two DR beta loci". Nature. 324 (6098): 676–9. doi:10.1038/324676a0. PMID 3099214. S2CID 4365990.

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