UGT8

UGT8
Identifikatori
Aliasi	UGT8
Vanjski ID-jevi	OMIM: 601291 MGI: 109522 HomoloGene: 20715 GeneCards: UGT8
Lokacija gena (čovjek)
Hrom.	Hromosom 4 (čovjek)
Kraj	114,678,225 bp
Lokacija gena (miš)
Hrom.	Hromosom 3 (miš)
Kraj	125,732,268 bp
Ontologija gena
Molekularna funkcija	• hexosyltransferase activity; • glycosyltransferase activity; • glucuronosyltransferase activity; • aktivnost sa transferazom; • N-acylsphingosine galactosyltransferase activity; • UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity; • UDP-glycosyltransferase activity;
Ćelijska komponenta	• integral component of membrane; • membrana; • intracellular membrane-bounded organelle; • ćelijska membrana;
Biološki proces	• lipid metabolism; • neuron projection morphogenesis; • galactosylceramide biosynthetic process; • glycosphingolipid metabolic process; • peripheral nervous system development; • central nervous system development; • paranodal junction assembly; • metabolizam; • protein localization to paranode region of axon; • cytoskeleton organization; • sphingolipid metabolic process;
	Izvori:Amigo / QuickGO
Ortolozi
	7368
	22239
	ENSG00000174607
	ENSMUSG00000032854
	Q16880
	Q64676
	NM_001128174; NM_003360; NM_001322112; NM_001322113; NM_001322114
	NM_011674
	NP_001121646; NP_001309041; NP_001309042; NP_001309043; NP_003351
	NP_035804
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

2-Hidroksiacilsfingozin 1-beta-galaktiziltransferaza jest enzim koji je kod ljudi kodiran genom UGT8 sa hromosoma 4.^[5]^[6]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 541 aminokiselina, а molekulska težina 61.438 Da.^[7]

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
MKSYTPYFIL	LWSAVGIAKA	AKIIIVPPIM	FESHMYIFKT	LASALHERGH
HTVFLLSEGR	DIAPSNHYSL	QRYPGIFNST	TSDAFLQSKM	RNIFSGRLTA
IELFDILDHY	TKNCDLMVGN	HALIQGLKKE	KFDLLLVDPN	DMCGFVIAHL
LGVKYAVFST	GLWYPAEVGA	PAPLAYVPEF	NSLLTDRMNL	LQRMKNTGVY
LISRLGVSFL	VLPKYERIMQ	KYNLLPEKSM	YDLVHGSSLW	MLCTDVALEF
PRPTLPNVVY	VGGILTKPAS	PLPEDLQRWV	NGANEHGFVL	VSFGAGVKYL
SEDIANKLAG	ALGRLPQKVI	WRFSGPKPKN	LGNNTKLIEW	LPQNDLLGHS
KIKAFLSHGG	LNSIFETIYH	GVPVVGIPLF	GDHYDTMTRV	QAKGMGILLE
WKTVTEKELY	EALVKVINNP	SYRQRAQKLS	EIHKDQPGHP	VNRTIYWIDY
IIRHNGAHHL	RAAVHQISFC	QYFLLDIAFV	LLLGAALLYF	LLSWVTKFIY
RKIKSLWSRN	KHSTVNGHYH	NGILNGKYKR	NGHIKHEKKV	K

Funkcija

Galaktocerebrozidi su obilni sfingolipidi mijelinske membrane centralnog i perifernog nervnog sistema i također su prisutni u malim količinama u bubrezima. Ključni enzimski korak u biosintezi galaktocerebrozida sastoji se od prijenosa galaktoze u keramid kataliziranog UDP-galaktoza keramid galaktoziltransferaza (CGTransferaza 1.45). Enzim koji je kodiran CGT genom prvi je uključen u kompleksnu biosintezu lipida u mijelinizirajućim oligodendrocitima.^[6]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000174607 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000032854 - 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.
^ Bosio A, Binczek E, Le Beau MM, Fernald AA, Stoffel W (Dec 1996). "The human gene CGT encoding the UDP-galactose ceramide galactosyl transferase (cerebroside synthase): cloning, characterization, and assignment to human chromosome 4, band q26". Genomics. 34 (1): 69–75. doi:10.1006/geno.1996.0242. PMID 8661025.
^ ^a ^b "Entrez Gene: UGT8 UDP glycosyltransferase 8 (UDP-galactose ceramide galactosyltransferase)".
^ "UniProt, Q16880" (jezik: engleski). Pristupljeno 31. 10. 2021.

Dopunska literatura

Yahi N, Spitalnik SL, Stefano KA, De Micco P, Gonzalez-Scarano F, Fantini J (1994). "Interferon-gamma decreases cell surface expression of galactosyl ceramide, the receptor for HIV-1 GP120 on human colonic epithelial cells". Virology. 204 (2): 550–7. doi:10.1006/viro.1994.1568. PMID 7941321.
Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
Bhat S, Mettus RV, Reddy EP, Ugen KE, Srikanthan V, Williams WV, Weiner DB (1993). "The galactosyl ceramide/sulfatide receptor binding region of HIV-1 gp120 maps to amino acids 206-275". AIDS Res. Hum. Retroviruses. 9 (2): 175–81. doi:10.1089/aid.1993.9.175. PMID 8457384.
Kapitonov D, Yu RK (1997). "Cloning, characterization, and expression of human ceramide galactosyltransferase cDNA". Biochem. Biophys. Res. Commun. 232 (2): 449–53. doi:10.1006/bbrc.1997.6240. PMID 9125199.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Sprong H, Kruithof B, Leijendekker R, Slot JW, van Meer G, van der Sluijs P (1998). "UDP-galactose:ceramide galactosyltransferase is a class I integral membrane protein of the endoplasmic reticulum". J. Biol. Chem. 273 (40): 25880–8. doi:10.1074/jbc.273.40.25880. PMID 9748263.
Iida A, Saito S, Sekine A, Mishima C, Kitamura Y, Kondo K, Harigae S, Osawa S, Nakamura Y (2002). "Catalog of 86 single-nucleotide polymorphisms (SNPs) in three uridine diphosphate glycosyltransferase genes: UGT2A1, UGT2B15, and UGT8". J. Hum. Genet. 47 (10): 505–10. doi:10.1007/s100380200075. PMID 12376738.
Sprong H, Degroote S, Nilsson T, Kawakita M, Ishida N, van der Sluijs P, van Meer G (2003). "Association of the Golgi UDP-galactose transporter with UDP-galactose:ceramide galactosyltransferase allows UDP-galactose import in the endoplasmic reticulum". Mol. Biol. Cell. 14 (8): 3482–93. doi:10.1091/mbc.E03-03-0130. PMC 181583. PMID 12925779.
Tencomnao T, Kapitonov D, Bieberich E, Yu RK (2004). "Transcriptional regulation of the human UDP-galactose:ceramide galactosyltransferase (hCGT) gene expression: functional role of GC-box and CRE". Glycoconj. J. 20 (5): 339–51. doi:10.1023/B:GLYC.0000033630.58533.16. PMID 15229398. S2CID 38983312.

Vanjski linkovi

Portal Biologija

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000174607 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000032854 - 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.

[pmid8661025-5] Bosio A, Binczek E, Le Beau MM, Fernald AA, Stoffel W (Dec 1996). "The human gene CGT encoding the UDP-galactose ceramide galactosyl transferase (cerebroside synthase): cloning, characterization, and assignment to human chromosome 4, band q26". Genomics. 34 (1): 69–75. doi:10.1006/geno.1996.0242. PMID 8661025.

[entrez-6] "Entrez Gene: UGT8 UDP glycosyltransferase 8 (UDP-galactose ceramide galactosyltransferase)".

[UniProt-7] "UniProt, Q16880" (jezik: engleski). Pristupljeno 31. 10. 2021.

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