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

UGT8
Identifikatori
AliasiUGT8
Vanjski ID-jeviOMIM: 601291 MGI: 109522 HomoloGene: 20715 GeneCards: UGT8
Lokacija gena (čovjek)
Hromosom 4 (čovjek)
Hrom.Hromosom 4 (čovjek)[1]
Hromosom 4 (čovjek)
Genomska lokacija za UGT8
Genomska lokacija za UGT8
Bend4q26Početak114,598,770 bp[1]
Kraj114,678,225 bp[1]
Lokacija gena (miš)
Hromosom 3 (miš)
Hrom.Hromosom 3 (miš)[2]
Hromosom 3 (miš)
Genomska lokacija za UGT8
Genomska lokacija za UGT8
Bend3|3 G1Početak125,658,920 bp[2]
Kraj125,732,268 bp[2]
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
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)

NM_001128174
NM_003360
NM_001322112
NM_001322113
NM_001322114

NM_011674

RefSeq (bjelančevina)

NP_001121646
NP_001309041
NP_001309042
NP_001309043
NP_003351

NP_035804

Lokacija (UCSC)Chr 4: 114.6 – 114.68 MbChr 3: 125.66 – 125.73 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca

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

1020304050
MKSYTPYFILLWSAVGIAKAAKIIIVPPIMFESHMYIFKTLASALHERGH
HTVFLLSEGRDIAPSNHYSLQRYPGIFNSTTSDAFLQSKMRNIFSGRLTA
IELFDILDHYTKNCDLMVGNHALIQGLKKEKFDLLLVDPNDMCGFVIAHL
LGVKYAVFSTGLWYPAEVGAPAPLAYVPEFNSLLTDRMNLLQRMKNTGVY
LISRLGVSFLVLPKYERIMQKYNLLPEKSMYDLVHGSSLWMLCTDVALEF
PRPTLPNVVYVGGILTKPASPLPEDLQRWVNGANEHGFVLVSFGAGVKYL
SEDIANKLAGALGRLPQKVIWRFSGPKPKNLGNNTKLIEWLPQNDLLGHS
KIKAFLSHGGLNSIFETIYHGVPVVGIPLFGDHYDTMTRVQAKGMGILLE
WKTVTEKELYEALVKVINNPSYRQRAQKLSEIHKDQPGHPVNRTIYWIDY
IIRHNGAHHLRAAVHQISFCQYFLLDIAFVLLLGAALLYFLLSWVTKFIY
RKIKSLWSRNKHSTVNGHYHNGILNGKYKRNGHIKHEKKVK

Funkcija

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000174607 - Ensembl, maj 2017
  2. ^ a b c 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.
  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.
  6. ^ a b "Entrez Gene: UGT8 UDP glycosyltransferase 8 (UDP-galactose ceramide galactosyltransferase)".
  7. ^ "UniProt, Q16880" (jezik: engleski). Pristupljeno 31. 10. 2021.

Dopunska literatura

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Vanjski linkovi

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