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Protein

2-hydroxyacylsphingosine 1-beta-galactosyltransferase

Gene

UGT8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.By similarity

Catalytic activityi

UDP-alpha-D-galactose + N-acylsphingosine = UDP + beta-D-galactosylceramide.By similarity

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

Keywordsi

Molecular functionGlycosyltransferase, Transferase
Biological processLipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

BioCyciMetaCyc:HS10812-MONOMER
ReactomeiR-HSA-1660662 Glycosphingolipid metabolism
UniPathwayi
UPA00787

Protein family/group databases

CAZyiGT1 Glycosyltransferase Family 1

Chemistry databases

SwissLipidsiSLP:000001432

Names & Taxonomyi

Protein namesi
Recommended name:
2-hydroxyacylsphingosine 1-beta-galactosyltransferase (EC:2.4.1.47By similarity)
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

EuPathDBiHostDB:ENSG00000174607.10
HGNCiHGNC:12555 UGT8
MIMi601291 gene
neXtProtiNX_Q16880

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

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

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...) asparagineSequence analysis1
Glycosylationi333N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi442N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ16880
MaxQBiQ16880
PaxDbiQ16880
PeptideAtlasiQ16880
PRIDEiQ16880
ProteomicsDBi61118

PTM databases

GlyConnecti980
iPTMnetiQ16880
PhosphoSitePlusiQ16880

Expressioni

Gene expression databases

BgeeiENSG00000174607 Expressed in 158 organ(s), highest expression level in spinal cord
CleanExiHS_UGT8
ExpressionAtlasiQ16880 baseline and differential
GenevisibleiQ16880 HS

Organism-specific databases

HPAiHPA014405
HPA065785

Interactioni

Protein-protein interaction databases

BioGridi113215, 30 interactors
IntActiQ16880, 4 interactors
MINTiQ16880
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

InterProiView protein in InterPro
IPR002213 UDP_glucos_trans
IPR035595 UDP_glycos_trans_CS
PfamiView protein in Pfam
PF00201 UDPGT, 1 hit
PROSITEiView protein in PROSITE
PS00375 UDPGT, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RFW2D6RFW2_HUMAN
2-hydroxyacylsphingosine 1-beta-gal...
UGT8
141Annotation score:

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 dbSNP:rs4148254Ensembl.1
Natural variantiVAR_052467368I → M5 PublicationsCorresponds to variant dbSNP:rs11098261Ensembl.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

Similar proteinsi

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, 30 interactors
IntActiQ16880, 4 interactors
MINTiQ16880
STRINGi9606.ENSP00000311648

Chemistry databases

SwissLipidsiSLP:000001432

Protein family/group databases

CAZyiGT1 Glycosyltransferase Family 1

PTM databases

GlyConnecti980
iPTMnetiQ16880
PhosphoSitePlusiQ16880

Polymorphism and mutation databases

BioMutaiUGT8
DMDMi296434442

Proteomic databases

EPDiQ16880
MaxQBiQ16880
PaxDbiQ16880
PeptideAtlasiQ16880
PRIDEiQ16880
ProteomicsDBi61118

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
EuPathDBiHostDB:ENSG00000174607.10
GeneCardsiUGT8
HGNCiHGNC:12555 UGT8
HPAiHPA014405
HPA065785
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

UniPathwayi
UPA00787

BioCyciMetaCyc:HS10812-MONOMER
ReactomeiR-HSA-1660662 Glycosphingolipid metabolism

Miscellaneous databases

GeneWikiiUGT8
GenomeRNAii7368
PROiPR:Q16880
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174607 Expressed in 158 organ(s), highest expression level in spinal cord
CleanExiHS_UGT8
ExpressionAtlasiQ16880 baseline and differential
GenevisibleiQ16880 HS

Family and domain databases

InterProiView protein in InterPro
IPR002213 UDP_glucos_trans
IPR035595 UDP_glycos_trans_CS
PfamiView protein in Pfam
PF00201 UDPGT, 1 hit
PROSITEiView protein in PROSITE
PS00375 UDPGT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCGT_HUMAN
AccessioniPrimary (citable) accession number: Q16880
Secondary accession number(s): B3KXU7, O00196
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 18, 2010
Last modified: October 10, 2018
This is version 140 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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