UniProtKB - Q16880 (CGT_HUMAN)
Protein
2-hydroxyacylsphingosine 1-beta-galactosyltransferase
Gene
UGT8
Organism
Homo sapiens (Human)
Status
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 (PubMed:9125199). Galactosylates both hydroxy- and non-hydroxy fatty acid-containing ceramides and diglycerides (By similarity).By similarity1 Publication
Catalytic activityi
- an N-acylsphing-4-enine + UDP-α-D-galactose = a β-D-galactosyl-(1↔1ʼ)-N-acylsphing-4-enine + H+ + UDPBy similarityEC:2.4.1.47By similarityThis reaction proceeds in the forwardBy similarity direction.
- N-(2-hydroxy-hexanoyl)-sphing-4-enine + UDP-α-D-galactose = H+ + N-(2-hydroxy-hexanoyl)-β-D-galactosyl-sphing-4-enine + UDPBy similarityThis reaction proceeds in the forwardBy similarity direction.
- N-(2-hydroxy-hexanoyl)-sphinganine + UDP-α-D-galactose = H+ + N-(2-hydroxyhexanoyl)-β-D-galactosylsphinganine + UDPBy similarityThis reaction proceeds in the forwardBy similarity direction.
: galactosylceramide biosynthesis Pathwayi
This protein is involved in the pathway galactosylceramide biosynthesis, which is part of Sphingolipid metabolism.1 PublicationView all proteins of this organism that are known to be involved in the pathway galactosylceramide biosynthesis and in Sphingolipid metabolism.
GO - Molecular functioni
- 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity Source: UniProtKB
- N-acylsphingosine galactosyltransferase activity Source: UniProtKB-EC
- UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity Source: ProtInc
GO - Biological processi
- central nervous system development Source: ProtInc
- cytoskeleton organization Source: Ensembl
- galactosylceramide biosynthetic process Source: UniProtKB
- glycosphingolipid metabolic process Source: Reactome
- neuron projection morphogenesis Source: Ensembl
- paranodal junction assembly Source: Ensembl
- peripheral nervous system development Source: ProtInc
- protein localization to paranode region of axon Source: Ensembl
Keywordsi
Molecular function | Glycosyltransferase, Transferase |
Biological process | Lipid metabolism, Sphingolipid metabolism |
Enzyme and pathway databases
BioCyci | MetaCyc:HS10812-MONOMER |
PathwayCommonsi | Q16880 |
Reactomei | R-HSA-1660662, Glycosphingolipid metabolism |
SIGNORi | Q16880 |
UniPathwayi | UPA00787 |
Protein family/group databases
CAZyi | GT1, Glycosyltransferase Family 1 |
Chemistry databases
SwissLipidsi | SLP:000001432 |
Names & Taxonomyi
Protein namesi | Recommended name: 2-hydroxyacylsphingosine 1-beta-galactosyltransferaseCurated (EC:2.4.1.47By similarity)Alternative name(s): Ceramide UDP-galactosyltransferase Cerebroside synthase UDP-galactose-ceramide galactosyltransferase |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:12555, UGT8 |
MIMi | 601291, gene |
neXtProti | NX_Q16880 |
VEuPathDBi | HostDB:ENSG00000174607.10 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum By similarity
Other locations
- Membrane Curated; Single-pass membrane protein Curated
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Plasma Membrane
- plasma membrane Source: Reactome
Other locations
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 472 – 492 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
Endoplasmic reticulum, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 7368 |
OpenTargetsi | ENSG00000174607 |
PharmGKBi | PA37195 |
Miscellaneous databases
Pharosi | Q16880, Tbio |
Genetic variation databases
BioMutai | UGT8 |
DMDMi | 296434442 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 20 | Sequence analysisAdd BLAST | 20 | |
ChainiPRO_0000036064 | 21 – 541 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferaseAdd BLAST | 521 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 78 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 333 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 442 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
GlycoproteinProteomic databases
EPDi | Q16880 |
jPOSTi | Q16880 |
MassIVEi | Q16880 |
MaxQBi | Q16880 |
PaxDbi | Q16880 |
PeptideAtlasi | Q16880 |
PRIDEi | Q16880 |
ProteomicsDBi | 61118 |
PTM databases
GlyConnecti | 980, 10 N-Linked glycans (3 sites) |
GlyGeni | Q16880, 3 sites |
iPTMneti | Q16880 |
PhosphoSitePlusi | Q16880 |
Expressioni
Gene expression databases
Bgeei | ENSG00000174607, Expressed in C1 segment of cervical spinal cord and 176 other tissues |
ExpressionAtlasi | Q16880, baseline and differential |
Genevisiblei | Q16880, HS |
Organism-specific databases
HPAi | ENSG00000174607, Tissue enriched (brain) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 113215, 46 interactors |
IntActi | Q16880, 26 interactors |
MINTi | Q16880 |
STRINGi | 9606.ENSP00000311648 |
Miscellaneous databases
RNActi | Q16880, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the UDP-glycosyltransferase family.Curated
Keywords - Domaini
Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1192, Eukaryota |
GeneTreei | ENSGT00940000156545 |
HOGENOMi | CLU_012949_3_1_1 |
InParanoidi | Q16880 |
OMAi | TKNCDMI |
OrthoDBi | 508327at2759 |
PhylomeDBi | Q16880 |
TreeFami | TF315472 |
Family and domain databases
InterProi | View protein in InterPro IPR002213, UDP_glucos_trans IPR035595, UDP_glycos_trans_CS |
Pfami | View protein in Pfam PF00201, UDPGT, 1 hit |
PROSITEi | View protein in PROSITE PS00375, UDPGT, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q16880-1 [UniParc]FASTAAdd to basket
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketD6RFW2 | D6RFW2_HUMAN | 2-hydroxyacylsphingosine 1-beta-gal... | UGT8 | 141 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 99 | T → P in AAC51187 (PubMed:9125199).Curated | 1 | |
Sequence conflicti | 116 | L → M in AAC51187 (PubMed:9125199).Curated | 1 | |
Sequence conflicti | 356 | L → V in AAC51187 (PubMed:9125199).Curated | 1 | |
Sequence conflicti | 379 | L → V in AAC51187 (PubMed:9125199).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_052466 | 226 | P → L. Corresponds to variant dbSNP:rs4148254Ensembl. | 1 | |
Natural variantiVAR_052467 | 368 | I → 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 |
CCDSi | CCDS3705.1 |
PIRi | JC5423 |
RefSeqi | NP_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 |
Genome annotation databases
Ensembli | ENST00000310836; ENSP00000311648; ENSG00000174607 ENST00000394511; ENSP00000378019; ENSG00000174607 |
GeneIDi | 7368 |
KEGGi | hsa:7368 |
UCSCi | uc003ibs.3, human |
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 |
CCDSi | CCDS3705.1 |
PIRi | JC5423 |
RefSeqi | NP_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 |
3D structure databases
SMRi | Q16880 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 113215, 46 interactors |
IntActi | Q16880, 26 interactors |
MINTi | Q16880 |
STRINGi | 9606.ENSP00000311648 |
Chemistry databases
SwissLipidsi | SLP:000001432 |
Protein family/group databases
CAZyi | GT1, Glycosyltransferase Family 1 |
PTM databases
GlyConnecti | 980, 10 N-Linked glycans (3 sites) |
GlyGeni | Q16880, 3 sites |
iPTMneti | Q16880 |
PhosphoSitePlusi | Q16880 |
Genetic variation databases
BioMutai | UGT8 |
DMDMi | 296434442 |
Proteomic databases
EPDi | Q16880 |
jPOSTi | Q16880 |
MassIVEi | Q16880 |
MaxQBi | Q16880 |
PaxDbi | Q16880 |
PeptideAtlasi | Q16880 |
PRIDEi | Q16880 |
ProteomicsDBi | 61118 |
Protocols and materials databases
Antibodypediai | 2809, 206 antibodies |
Genome annotation databases
Ensembli | ENST00000310836; ENSP00000311648; ENSG00000174607 ENST00000394511; ENSP00000378019; ENSG00000174607 |
GeneIDi | 7368 |
KEGGi | hsa:7368 |
UCSCi | uc003ibs.3, human |
Organism-specific databases
CTDi | 7368 |
DisGeNETi | 7368 |
GeneCardsi | UGT8 |
HGNCi | HGNC:12555, UGT8 |
HPAi | ENSG00000174607, Tissue enriched (brain) |
MIMi | 601291, gene |
neXtProti | NX_Q16880 |
OpenTargetsi | ENSG00000174607 |
PharmGKBi | PA37195 |
VEuPathDBi | HostDB:ENSG00000174607.10 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1192, Eukaryota |
GeneTreei | ENSGT00940000156545 |
HOGENOMi | CLU_012949_3_1_1 |
InParanoidi | Q16880 |
OMAi | TKNCDMI |
OrthoDBi | 508327at2759 |
PhylomeDBi | Q16880 |
TreeFami | TF315472 |
Enzyme and pathway databases
UniPathwayi | UPA00787 |
BioCyci | MetaCyc:HS10812-MONOMER |
PathwayCommonsi | Q16880 |
Reactomei | R-HSA-1660662, Glycosphingolipid metabolism |
SIGNORi | Q16880 |
Miscellaneous databases
BioGRID-ORCSi | 7368, 8 hits in 991 CRISPR screens |
ChiTaRSi | UGT8, human |
GeneWikii | UGT8 |
GenomeRNAii | 7368 |
Pharosi | Q16880, Tbio |
PROi | PR:Q16880 |
RNActi | Q16880, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174607, Expressed in C1 segment of cervical spinal cord and 176 other tissues |
ExpressionAtlasi | Q16880, baseline and differential |
Genevisiblei | Q16880, HS |
Family and domain databases
InterProi | View protein in InterPro IPR002213, UDP_glucos_trans IPR035595, UDP_glycos_trans_CS |
Pfami | View protein in Pfam PF00201, UDPGT, 1 hit |
PROSITEi | View protein in PROSITE PS00375, UDPGT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CGT_HUMAN | |
Accessioni | Q16880Primary (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: | April 7, 2021 | |
This is version 156 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - SIMILARITY comments
Index of protein domains and families