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Identification
HMDB Protein ID HMDBP01101
Secondary Accession Numbers
  • 6390
Name 2-hydroxyacylsphingosine 1-beta-galactosyltransferase
Synonyms
  1. Ceramide UDP-galactosyltransferase
  2. Cerebroside synthase
  3. UDP-galactose-ceramide galactosyltransferase
Gene Name UGT8
Protein Type Enzyme
Biological Properties
General Function Involved in transferase activity, transferring hexosyl groups
Specific Function Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system.
Pathways
  • Fabry disease
  • galactosylceramide biosynthesis
  • Gaucher Disease
  • Globoid Cell Leukodystrophy
  • Krabbe disease
  • Metachromatic Leukodystrophy (MLD)
  • Sphingolipid Metabolism
  • sphingolipid metabolism
Reactions
Uridine diphosphategalactose + 2-(2-hydroxyacyl)sphingosine → Uridine 5'-diphosphate + 1-(beta-D-galactosyl)-2-(2-hydroxyacyl)sphingosine details
Uridine diphosphategalactose + N-Acylsphingosine → Uridine 5'-diphosphate + Galactosylceramide details
GO Classification
Biological Process
axon cargo transport
cytoskeleton organization
galactosylceramide biosynthetic process
paranodal junction assembly
protein localization to paranode region of axon
neuron projection morphogenesis
central nervous system development
peripheral nervous system development
Cellular Component
integral to membrane
Function
catalytic activity
transferase activity
transferase activity, transferring hexosyl groups
transferase activity, transferring glycosyl groups
Molecular Function
UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity
2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity
Process
metabolic process
Cellular Location
  1. Membrane
  2. Single-pass membrane protein (Potential)
Gene Properties
Chromosome Location 4
Locus 4q26
SNPs UGT8
Gene Sequence
>1626 bp
ATGAAGTCTTACACTCCATATTTCATTCTCCTGTGGAGTGCTGTTGGGATAGCGAAGGCT
GCCAAAATCATCATCGTGCCGCCAATTATGTTTGAAAGCCATATGTACATTTTCAAGACG
CTAGCCTCAGCCTTGCACGAGAGAGGCCACCATACAGTGTTCCTCCTCTCTGAAGGCAGA
GACATCGCCCCATCTAATCATTACAGCCTCCAGCGCTACCCAGGGATCTTTAACAGTACC
ACCTCAGATGCTTTCCTACAGTCCAAGATGCGGAATATTTTCTCTGGGAGATTGACAGCA
ATCGAACTGTTTGACATACTGGATCACTATACTAAGAACTGTGACCTGATGGTTGGCAAC
CATGCCCTGATCCAGGGTCTGAAGAAAGAAAAATTTGACCTGCTGCTGGTGGACCCTAAT
GATATGTGTGGATTTGTGATAGCTCATCTTTTAGGGGTTAAATATGCTGTATTTTCAACT
GGCCTTTGGTATCCTGCTGAAGTGGGTGCTCCTGCTCCATTAGCATACGTCCCAGAGTTT
AACTCACTCCTCACAGACCGCATGAACTTGCTGCAAAGGATGAAAAATACCGGTGTTTAC
CTCATTTCCAGATTAGGGGTCAGCTTTCTGGTTCTTCCCAAATATGAAAGGATAATGCAG
AAGTACAACCTGCTGCCGGAGAAGTCCATGTATGATTTGGTTCATGGGTCCAGCCTGTGG
ATGCTGTGTACTGACGTAGCACTGGAATTCCCAAGACCCACTCTGCCTAATGTTGTTTAT
GTAGGAGGAATCCTAACCAAACCAGCCAGCCCACTACCAGAAGATCTCCAAAGATGGGTA
AATGGTGCTAATGAACATGGCTTTGTCTTGGTGTCTTTTGGAGCTGGTGTCAAGTATCTG
TCAGAAGACATTGCTAACAAACTGGCAGGAGCTCTGGGGAGATTGCCTCAAAAAGTGATT
TGGAGGTTTTCTGGACCCAAACCAAAGAATCTAGGAAACAACACTAAACTCATAGAATGG
TTACCACAAAATGACCTGCTTGGGCATTCAAAGATTAAAGCCTTCCTGAGCCATGGTGGT
TTGAACAGTATTTTTGAAACTATGTATCATGGTGTGCCTGTAGTGGGAATTCCACTCTTT
GGAGACCATTATGATACTATGACCAGAGTACAGGCAAAAGGCATGGGGATATTGCTAGAA
TGGAAGACAGTTACTGAAAAAGAGCTCTATGAAGCACTAGTGAAGGTTATCAATAATCCC
AGCTACCGTCAGAGGGCTCAGAAGCTTTCGGAAATTCACAAGGATCAACCTGGTCACCCT
GTCAATCGAACTATCTATTGGATAGATTATATTATTCGTCACAATGGAGCCCATCACCTA
CGTGCCGCTGTCCATCAGATCTCCTTTTGTCAGTATTTTTTACTGGATATTGCCTTTGTG
CTTTTGCTTGGTGCTGCCTTGTTATACTTTCTCTTGTCTTGGGTGACAAAATTTATCTAC
AGAAAAATCAAAAGTCTGTGGTCTAGAAATAAGCATAGCACAGTTAATGGACATTACCAC
AATGGAATCCTCAATGGCAAGTACAAAAGAAATGGCCATATTAAACATGAAAAGAAAGTG
AAATGA
Protein Properties
Number of Residues 541
Molecular Weight 61455.31
Theoretical pI 9.526
Pfam Domain Function
Signals Not Available
Transmembrane Regions Not Available
Protein Sequence
>2-hydroxyacylsphingosine 1-beta-galactosyltransferase
MKSYTPYFILLWSAVGIAKAAKIIIVPPIMFESHMYIFKTLASALHERGHHTVFLLSEGR
DIAPSNHYSLQRYPGIFNSTTSDAFLQSKMRNIFSGRLTAIELFDILDHYTKNCDLMVGN
HALIQGLKKEKFDLLLVDPNDMCGFVIAHLLGVKYAVFSTGLWYPAEVGAPAPLAYVPEF
NSLLTDRMNLLQRMKNTGVYLISRLGVSFLVLPKYERIMQKYNLLPEKSMYDLVHGSSLW
MLCTDVALEFPRPTLPNVVYVGGILTKPASPLPEDLQRWVNGANEHGFVLVSFGAGVKYL
SEDIANKLAGALGRLPQKVIWRFSGPKPKNLGNNTKLIEWLPQNDLLGHSKIKAFLSHGG
LNSIFETIYHGVPVVGIPLFGDHYDTMTRVQAKGMGILLEWKTVTEKELYEALVKVINNP
SYRQRAQKLSEIHKDQPGHPVNRTIYWIDYIIRHNGAHHLRAAVHQISFCQYFLLDIAFV
LLLGAALLYFLLSWVTKFIYRKIKSLWSRNKHSTVNGHYHNGILNGKYKRNGHIKHEKKV
K
GenBank ID Protein 189491660
UniProtKB/Swiss-Prot ID Q16880
UniProtKB/Swiss-Prot Entry Name CGT_HUMAN
PDB IDs Not Available
GenBank Gene ID NM_001128174.1
GeneCard ID UGT8
GenAtlas ID UGT8
HGNC ID HGNC:12555
References
General References
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