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Q16880

- CGT_HUMAN

UniProt

Q16880 - CGT_HUMAN

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Protein

2-hydroxyacylsphingosine 1-beta-galactosyltransferase

Gene

UGT8

Organism
Homo sapiens (Human)
Status
Reviewed - 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

GO - Molecular functioni

  1. 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity Source: UniProtKB-EC
  2. UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity Source: ProtInc

GO - Biological processi

  1. axon cargo transport Source: Ensembl
  2. central nervous system development Source: ProtInc
  3. cytoskeleton organization Source: Ensembl
  4. galactosylceramide biosynthetic process Source: UniProtKB-UniPathway
  5. neuron projection morphogenesis Source: Ensembl
  6. paranodal junction assembly Source: Ensembl
  7. peripheral nervous system development Source: ProtInc
  8. protein localization to paranode region of axon Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Keywords - Biological processi

Lipid metabolism, Sphingolipid metabolism

Enzyme and pathway databases

UniPathwayiUPA00787.

Protein family/group databases

CAZyiGT1. Glycosyltransferase Family 1.

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
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:12555. UGT8.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei472 – 49221HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA37195.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 5415212-hydroxyacylsphingosine 1-beta-galactosyltransferasePRO_0000036064Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi78 – 781N-linked (GlcNAc...)Sequence Analysis
Glycosylationi333 – 3331N-linked (GlcNAc...)Sequence Analysis
Glycosylationi442 – 4421N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ16880.
PaxDbiQ16880.
PRIDEiQ16880.

PTM databases

PhosphoSiteiQ16880.

Expressioni

Gene expression databases

BgeeiQ16880.
CleanExiHS_UGT8.
ExpressionAtlasiQ16880. baseline and differential.
GenevestigatoriQ16880.

Organism-specific databases

HPAiHPA014405.

Interactioni

Protein-protein interaction databases

BioGridi113215. 8 interactions.
MINTiMINT-6630487.
STRINGi9606.ENSP00000311648.

Structurei

3D structure databases

ProteinModelPortaliQ16880.
SMRiQ16880. Positions 269-430.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the UDP-glycosyltransferase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1819.
GeneTreeiENSGT00760000118949.
HOGENOMiHOG000220831.
HOVERGENiHBG098341.
InParanoidiQ16880.
KOiK04628.
OMAiSNHYSLQ.
OrthoDBiEOG7GBFWS.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti99 – 991T → P in AAC51187. (PubMed:9125199)Curated
Sequence conflicti116 – 1161L → M in AAC51187. (PubMed:9125199)Curated
Sequence conflicti356 – 3561L → V in AAC51187. (PubMed:9125199)Curated
Sequence conflicti379 – 3791L → V in AAC51187. (PubMed:9125199)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti226 – 2261P → L.
Corresponds to variant rs4148254 [ dbSNP | Ensembl ].
VAR_052466
Natural varianti368 – 3681I → M.5 Publications
Corresponds to variant rs11098261 [ dbSNP | Ensembl ].
VAR_052467

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_001128174.1.
NP_003351.2. NM_003360.3.
XP_006714365.1. XM_006714302.1.
XP_006714366.1. XM_006714303.1.
UniGeneiHs.144197.

Genome annotation databases

EnsembliENST00000310836; ENSP00000311648; ENSG00000174607.
ENST00000394511; ENSP00000378019; ENSG00000174607.
GeneIDi7368.
KEGGihsa:7368.
UCSCiuc003ibs.2. human.

Polymorphism databases

DMDMi296434442.

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 .
CCDSi CCDS3705.1.
PIRi JC5423.
RefSeqi NP_001121646.1. NM_001128174.1.
NP_003351.2. NM_003360.3.
XP_006714365.1. XM_006714302.1.
XP_006714366.1. XM_006714303.1.
UniGenei Hs.144197.

3D structure databases

ProteinModelPortali Q16880.
SMRi Q16880. Positions 269-430.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 113215. 8 interactions.
MINTi MINT-6630487.
STRINGi 9606.ENSP00000311648.

Protein family/group databases

CAZyi GT1. Glycosyltransferase Family 1.

PTM databases

PhosphoSitei Q16880.

Polymorphism databases

DMDMi 296434442.

Proteomic databases

MaxQBi Q16880.
PaxDbi Q16880.
PRIDEi Q16880.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310836 ; ENSP00000311648 ; ENSG00000174607 .
ENST00000394511 ; ENSP00000378019 ; ENSG00000174607 .
GeneIDi 7368.
KEGGi hsa:7368.
UCSCi uc003ibs.2. human.

Organism-specific databases

CTDi 7368.
GeneCardsi GC04P115519.
HGNCi HGNC:12555. UGT8.
HPAi HPA014405.
MIMi 601291. gene.
neXtProti NX_Q16880.
PharmGKBi PA37195.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1819.
GeneTreei ENSGT00760000118949.
HOGENOMi HOG000220831.
HOVERGENi HBG098341.
InParanoidi Q16880.
KOi K04628.
OMAi SNHYSLQ.
OrthoDBi EOG7GBFWS.
PhylomeDBi Q16880.
TreeFami TF315472.

Enzyme and pathway databases

UniPathwayi UPA00787 .

Miscellaneous databases

GeneWikii UGT8.
GenomeRNAii 7368.
NextBioi 28852.
PROi Q16880.
SOURCEi Search...

Gene expression databases

Bgeei Q16880.
CleanExi HS_UGT8.
ExpressionAtlasi Q16880. baseline and differential.
Genevestigatori Q16880.

Family and domain databases

InterProi IPR002213. UDP_glucos_trans.
[Graphical view ]
PANTHERi PTHR11926. PTHR11926. 1 hit.
Pfami PF00201. UDPGT. 1 hit.
[Graphical view ]
PROSITEi PS00375. UDPGT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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.

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: October 29, 2014
This is version 111 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

External Data

Dasty 3