| Identification |
| HMDB Protein ID
| CDBP01035 |
| Secondary Accession Numbers
| Not Available |
| Name
| 2-hydroxyacylsphingosine 1-beta-galactosyltransferase |
| Description
| Not Available |
| Synonyms
|
- Ceramide UDP-galactosyltransferase
- Cerebroside synthase
- 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.
|
| GO Classification
|
| Biological Process |
| peripheral nervous system development |
| 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 |
| 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
|
- Membrane
- Single-pass membrane protein (Potential)
|
| Pathways
|
| Name | SMPDB/Pathwhiz | KEGG | | Sphingolipid Metabolism |    |  | | galactosylceramide biosynthesis | Not Available | Not Available | | Gaucher Disease |    | Not Available | | Globoid Cell Leukodystrophy |    | Not Available | | Metachromatic Leukodystrophy (MLD) |    | Not Available |
|
| 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
|
| External Links |
| 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
| Not Available |