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Protein

2-hydroxyacylsphingosine 1-beta-galactosyltransferase

Gene

UGT8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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.

Catalytic activityi

UDP-alpha-D-galactose + 2-(2-hydroxyacyl)sphingosine = UDP + 1-(beta-D-galactosyl)-2-(2-hydroxyacyl)sphingosine.

Pathwayi: galactosylceramide biosynthesis

This protein is involved in the pathway galactosylceramide biosynthesis, which is part of Sphingolipid metabolism.
View all proteins of this organism that are known to be involved in the pathway galactosylceramide biosynthesis and in Sphingolipid metabolism.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BioCyciZFISH:HS10812-MONOMER.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.
UniPathwayiUPA00787.

Protein family/group databases

CAZyiGT1. Glycosyltransferase Family 1.

Chemistry databases

SwissLipidsiSLP:000001432.

Names & Taxonomyi

Protein namesi
Recommended name:
2-hydroxyacylsphingosine 1-beta-galactosyltransferase (EC:2.4.1.45)
Alternative name(s):
Ceramide UDP-galactosyltransferase
Cerebroside synthase
UDP-galactose-ceramide galactosyltransferase
Gene namesi
Name:UGT8
Synonyms:CGT, UGT4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:12555. UGT8.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei472 – 492HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi7368.
OpenTargetsiENSG00000174607.
PharmGKBiPA37195.

Polymorphism and mutation databases

BioMutaiUGT8.
DMDMi296434442.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 20Sequence analysisAdd BLAST20
ChainiPRO_000003606421 – 5412-hydroxyacylsphingosine 1-beta-galactosyltransferaseAdd BLAST521

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi78N-linked (GlcNAc...)Sequence analysis1
Glycosylationi333N-linked (GlcNAc...)Sequence analysis1
Glycosylationi442N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ16880.
MaxQBiQ16880.
PaxDbiQ16880.
PeptideAtlasiQ16880.
PRIDEiQ16880.

PTM databases

iPTMnetiQ16880.
PhosphoSitePlusiQ16880.

Expressioni

Gene expression databases

BgeeiENSG00000174607.
CleanExiHS_UGT8.
ExpressionAtlasiQ16880. baseline and differential.
GenevisibleiQ16880. HS.

Organism-specific databases

HPAiHPA014405.

Interactioni

Protein-protein interaction databases

BioGridi113215. 21 interactors.
IntActiQ16880. 3 interactors.
MINTiMINT-6630487.
STRINGi9606.ENSP00000311648.

Structurei

3D structure databases

ProteinModelPortaliQ16880.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UDP-glycosyltransferase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1192. Eukaryota.
COG1819. LUCA.
GeneTreeiENSGT00760000118949.
HOGENOMiHOG000220831.
HOVERGENiHBG098341.
InParanoidiQ16880.
KOiK04628.
OMAiIAPSNHY.
OrthoDBiEOG091G06JC.
PhylomeDBiQ16880.
TreeFamiTF315472.

Family and domain databases

InterProiIPR002213. UDP_glucos_trans.
[Graphical view]
PANTHERiPTHR11926. PTHR11926. 1 hit.
PfamiPF00201. UDPGT. 1 hit.
[Graphical view]
PROSITEiPS00375. UDPGT. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q16880-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKSYTPYFIL LWSAVGIAKA AKIIIVPPIM FESHMYIFKT LASALHERGH
60 70 80 90 100
HTVFLLSEGR DIAPSNHYSL QRYPGIFNST TSDAFLQSKM RNIFSGRLTA
110 120 130 140 150
IELFDILDHY TKNCDLMVGN HALIQGLKKE KFDLLLVDPN DMCGFVIAHL
160 170 180 190 200
LGVKYAVFST GLWYPAEVGA PAPLAYVPEF NSLLTDRMNL LQRMKNTGVY
210 220 230 240 250
LISRLGVSFL VLPKYERIMQ KYNLLPEKSM YDLVHGSSLW MLCTDVALEF
260 270 280 290 300
PRPTLPNVVY VGGILTKPAS PLPEDLQRWV NGANEHGFVL VSFGAGVKYL
310 320 330 340 350
SEDIANKLAG ALGRLPQKVI WRFSGPKPKN LGNNTKLIEW LPQNDLLGHS
360 370 380 390 400
KIKAFLSHGG LNSIFETIYH GVPVVGIPLF GDHYDTMTRV QAKGMGILLE
410 420 430 440 450
WKTVTEKELY EALVKVINNP SYRQRAQKLS EIHKDQPGHP VNRTIYWIDY
460 470 480 490 500
IIRHNGAHHL RAAVHQISFC QYFLLDIAFV LLLGAALLYF LLSWVTKFIY
510 520 530 540
RKIKSLWSRN KHSTVNGHYH NGILNGKYKR NGHIKHEKKV K
Length:541
Mass (Da):61,438
Last modified:May 18, 2010 - v2
Checksum:i02FA965FEC8EB788
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti99T → P in AAC51187 (PubMed:9125199).Curated1
Sequence conflicti116L → M in AAC51187 (PubMed:9125199).Curated1
Sequence conflicti356L → V in AAC51187 (PubMed:9125199).Curated1
Sequence conflicti379L → V in AAC51187 (PubMed:9125199).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052466226P → L.Corresponds to variant rs4148254dbSNPEnsembl.1
Natural variantiVAR_052467368I → M.5 PublicationsCorresponds to variant rs11098261dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U30930 mRNA. Translation: AAC50565.1.
U32370
, U31353, U31461, U31658, U31861 Genomic DNA. Translation: AAC50815.1.
U62899 mRNA. Translation: AAC51187.1.
AK127970 mRNA. Translation: BAG54609.1.
AC122938 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX06307.1.
BC075069 mRNA. Translation: AAH75069.1.
CCDSiCCDS3705.1.
PIRiJC5423.
RefSeqiNP_001121646.1. NM_001128174.2.
NP_001309041.1. NM_001322112.1.
NP_001309042.1. NM_001322113.1.
NP_001309043.1. NM_001322114.1.
NP_003351.2. NM_003360.4.
UniGeneiHs.144197.

Genome annotation databases

EnsembliENST00000310836; ENSP00000311648; ENSG00000174607.
ENST00000394511; ENSP00000378019; ENSG00000174607.
GeneIDi7368.
KEGGihsa:7368.
UCSCiuc003ibs.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Functional Glycomics Gateway - GTase

2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U30930 mRNA. Translation: AAC50565.1.
U32370
, U31353, U31461, U31658, U31861 Genomic DNA. Translation: AAC50815.1.
U62899 mRNA. Translation: AAC51187.1.
AK127970 mRNA. Translation: BAG54609.1.
AC122938 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX06307.1.
BC075069 mRNA. Translation: AAH75069.1.
CCDSiCCDS3705.1.
PIRiJC5423.
RefSeqiNP_001121646.1. NM_001128174.2.
NP_001309041.1. NM_001322112.1.
NP_001309042.1. NM_001322113.1.
NP_001309043.1. NM_001322114.1.
NP_003351.2. NM_003360.4.
UniGeneiHs.144197.

3D structure databases

ProteinModelPortaliQ16880.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113215. 21 interactors.
IntActiQ16880. 3 interactors.
MINTiMINT-6630487.
STRINGi9606.ENSP00000311648.

Chemistry databases

SwissLipidsiSLP:000001432.

Protein family/group databases

CAZyiGT1. Glycosyltransferase Family 1.

PTM databases

iPTMnetiQ16880.
PhosphoSitePlusiQ16880.

Polymorphism and mutation databases

BioMutaiUGT8.
DMDMi296434442.

Proteomic databases

EPDiQ16880.
MaxQBiQ16880.
PaxDbiQ16880.
PeptideAtlasiQ16880.
PRIDEiQ16880.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310836; ENSP00000311648; ENSG00000174607.
ENST00000394511; ENSP00000378019; ENSG00000174607.
GeneIDi7368.
KEGGihsa:7368.
UCSCiuc003ibs.3. human.

Organism-specific databases

CTDi7368.
DisGeNETi7368.
GeneCardsiUGT8.
HGNCiHGNC:12555. UGT8.
HPAiHPA014405.
MIMi601291. gene.
neXtProtiNX_Q16880.
OpenTargetsiENSG00000174607.
PharmGKBiPA37195.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1192. Eukaryota.
COG1819. LUCA.
GeneTreeiENSGT00760000118949.
HOGENOMiHOG000220831.
HOVERGENiHBG098341.
InParanoidiQ16880.
KOiK04628.
OMAiIAPSNHY.
OrthoDBiEOG091G06JC.
PhylomeDBiQ16880.
TreeFamiTF315472.

Enzyme and pathway databases

UniPathwayiUPA00787.
BioCyciZFISH:HS10812-MONOMER.
ReactomeiR-HSA-1660662. Glycosphingolipid metabolism.

Miscellaneous databases

GeneWikiiUGT8.
GenomeRNAii7368.
PROiQ16880.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174607.
CleanExiHS_UGT8.
ExpressionAtlasiQ16880. baseline and differential.
GenevisibleiQ16880. HS.

Family and domain databases

InterProiIPR002213. UDP_glucos_trans.
[Graphical view]
PANTHERiPTHR11926. PTHR11926. 1 hit.
PfamiPF00201. UDPGT. 1 hit.
[Graphical view]
PROSITEiPS00375. UDPGT. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCGT_HUMAN
AccessioniPrimary (citable) accession number: Q16880
Secondary accession number(s): B3KXU7, O00196
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 129 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.