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Q16880 (CGT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
2-hydroxyacylsphingosine 1-beta-galactosyltransferase

EC=2.4.1.45
Alternative name(s):
Ceramide UDP-galactosyltransferase
Cerebroside synthase
UDP-galactose-ceramide galactosyltransferase
Gene names
Name:UGT8
Synonyms:CGT, UGT4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length541 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

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.

Catalytic activity

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

Pathway

Sphingolipid metabolism; galactosylceramide biosynthesis.

Subcellular location

Membrane; Single-pass membrane protein Potential.

Sequence similarities

Belongs to the UDP-glycosyltransferase family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 5415212-hydroxyacylsphingosine 1-beta-galactosyltransferase
PRO_0000036064

Regions

Transmembrane472 – 49221Helical; Potential

Amino acid modifications

Glycosylation781N-linked (GlcNAc...) Potential
Glycosylation3331N-linked (GlcNAc...) Potential
Glycosylation4421N-linked (GlcNAc...) Potential

Natural variations

Natural variant2261P → L.
Corresponds to variant rs4148254 [ dbSNP | Ensembl ].
VAR_052466
Natural variant3681I → M. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6
Corresponds to variant rs11098261 [ dbSNP | Ensembl ].
VAR_052467

Experimental info

Sequence conflict991T → P in AAC51187. Ref.2
Sequence conflict1161L → M in AAC51187. Ref.2
Sequence conflict3561L → V in AAC51187. Ref.2
Sequence conflict3791L → V in AAC51187. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q16880 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 02FA965FEC8EB788

FASTA54161,438
        10         20         30         40         50         60 
MKSYTPYFIL LWSAVGIAKA AKIIIVPPIM FESHMYIFKT LASALHERGH HTVFLLSEGR 

        70         80         90        100        110        120 
DIAPSNHYSL QRYPGIFNST TSDAFLQSKM RNIFSGRLTA IELFDILDHY TKNCDLMVGN 

       130        140        150        160        170        180 
HALIQGLKKE KFDLLLVDPN DMCGFVIAHL LGVKYAVFST GLWYPAEVGA PAPLAYVPEF 

       190        200        210        220        230        240 
NSLLTDRMNL LQRMKNTGVY LISRLGVSFL VLPKYERIMQ KYNLLPEKSM YDLVHGSSLW 

       250        260        270        280        290        300 
MLCTDVALEF PRPTLPNVVY VGGILTKPAS PLPEDLQRWV NGANEHGFVL VSFGAGVKYL 

       310        320        330        340        350        360 
SEDIANKLAG ALGRLPQKVI WRFSGPKPKN LGNNTKLIEW LPQNDLLGHS KIKAFLSHGG 

       370        380        390        400        410        420 
LNSIFETIYH GVPVVGIPLF GDHYDTMTRV QAKGMGILLE WKTVTEKELY EALVKVINNP 

       430        440        450        460        470        480 
SYRQRAQKLS EIHKDQPGHP VNRTIYWIDY IIRHNGAHHL RAAVHQISFC QYFLLDIAFV 

       490        500        510        520        530        540 
LLLGAALLYF LLSWVTKFIY RKIKSLWSRN KHSTVNGHYH NGILNGKYKR NGHIKHEKKV 


K 

« Hide

References

« Hide 'large scale' references
[1]"The human gene CGT encoding the UDP-galactose ceramide galactosyl transferase (cerebroside synthase): cloning, characterization, and assignment to human chromosome 4, band q26."
Bosio A., Binczek E., Lebeau M.M., Fernald A.A., Stoffel W.
Genomics 34:69-75(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT MET-368.
[2]"Cloning, characterization, and expression of human ceramide galactosyltransferase cDNA."
Kapitonov D.E., Yu R.K.
Biochem. Biophys. Res. Commun. 232:449-453(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT MET-368.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-368.
Tissue: Testis.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT MET-368.
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT MET-368.
Tissue: Brain.
+Additional computationally mapped references.

Web resources

Functional Glycomics Gateway - GTase

2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U30930 mRNA. Translation: AAC50565.1.
U32370 expand/collapse EMBL AC list , 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.
CCDSCCDS3705.1.
PIRJC5423.
RefSeqNP_001121646.1. NM_001128174.1.
NP_003351.2. NM_003360.3.
XP_006714365.1. XM_006714302.1.
XP_006714366.1. XM_006714303.1.
UniGeneHs.144197.

3D structure databases

ProteinModelPortalQ16880.
SMRQ16880. Positions 269-430.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113215. 1 interaction.
MINTMINT-6630487.
STRING9606.ENSP00000311648.

Protein family/group databases

CAZyGT1. Glycosyltransferase Family 1.

PTM databases

PhosphoSiteQ16880.

Polymorphism databases

DMDM296434442.

Proteomic databases

MaxQBQ16880.
PaxDbQ16880.
PRIDEQ16880.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310836; ENSP00000311648; ENSG00000174607.
ENST00000394511; ENSP00000378019; ENSG00000174607.
GeneID7368.
KEGGhsa:7368.
UCSCuc003ibs.2. human.

Organism-specific databases

CTD7368.
GeneCardsGC04P115519.
HGNCHGNC:12555. UGT8.
HPAHPA014405.
MIM601291. gene.
neXtProtNX_Q16880.
PharmGKBPA37195.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1819.
HOGENOMHOG000220831.
HOVERGENHBG098341.
InParanoidQ16880.
KOK04628.
OMASNHYSLQ.
OrthoDBEOG7GBFWS.
PhylomeDBQ16880.
TreeFamTF315472.

Enzyme and pathway databases

UniPathwayUPA00787.

Gene expression databases

ArrayExpressQ16880.
BgeeQ16880.
CleanExHS_UGT8.
GenevestigatorQ16880.

Family and domain databases

InterProIPR002213. UDP_glucos_trans.
[Graphical view]
PANTHERPTHR11926. PTHR11926. 1 hit.
PfamPF00201. UDPGT. 1 hit.
[Graphical view]
PROSITEPS00375. UDPGT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiUGT8.
GenomeRNAi7368.
NextBio28852.
PROQ16880.
SOURCESearch...

Entry information

Entry nameCGT_HUMAN
AccessionPrimary (citable) accession number: Q16880
Secondary accession number(s): B3KXU7, O00196
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM