Q16880 (CGT_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	UGT8
Synonyms:	CGT, UGT4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	541 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Lipid metabolism Sphingolipid metabolism
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Glycosyltransferase Transferase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axon cargo transport Inferred from electronic annotation. Source: Compara central nervous system development Traceable author statement Ref.1. Source: ProtInc cytoskeleton organization Inferred from electronic annotation. Source: Compara galactosylceramide biosynthetic process Inferred from electronic annotation. Source: UniProtKB-UniPathway neuron projection morphogenesis Inferred from electronic annotation. Source: Compara paranodal junction assembly Inferred from electronic annotation. Source: Compara peripheral nervous system development Traceable author statement Ref.1. Source: ProtInc protein localization to paranode region of axon Inferred from electronic annotation. Source: Compara
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity Inferred from electronic annotation. Source: EC UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 541	521	2-hydroxyacylsphingosine 1-beta-galactosyltransferase		PRO_0000036064
Regions
	Transmembrane	472 – 492	21	Helical; Potential
Amino acid modifications
	Glycosylation	78	1	N-linked (GlcNAc...) Potential
	Glycosylation	333	1	N-linked (GlcNAc...) Potential
	Glycosylation	442	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	226	1	P → L. Corresponds to variant rs4148254 [ dbSNP | Ensembl ].		VAR_052466
	Natural variant	368	1	I → M. Ref.1 Ref.2 Ref.3 Ref.5 Ref.6 Corresponds to variant rs11098261 [ dbSNP | Ensembl ].		VAR_052467
Experimental info
	Sequence conflict	99	1	T → P in AAC51187. Ref.2
	Sequence conflict	116	1	L → M in AAC51187. Ref.2
	Sequence conflict	356	1	L → V in AAC51187. Ref.2
	Sequence conflict	379	1	L → V in AAC51187. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q16880 [UniParc]. Last modified May 18, 2010. Version 2. Checksum: 02FA965FEC8EB788	FASTA	541	61,438
	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

References

	« Hide 'large scale' referencesShow '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. , 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]	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. , 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 , 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.
IPI	IPI00294455.
PIR	JC5423.
RefSeq	NP_001121646.1. NM_001128174.1. NP_003351.2. NM_003360.3.
UniGene	Hs.744231.
3D structure databases
ProteinModelPortal	Q16880.
SMR	Q16880. Positions 269-430.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-6630487.
STRING	9606.ENSP00000311648.
Protein family/group databases
CAZy	GT1. Glycosyltransferase Family 1.
PTM databases
PhosphoSite	Q16880.
Polymorphism databases
DMDM	296434442.
Proteomic databases
PaxDb	Q16880.
PRIDE	Q16880.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310836; ENSP00000311648; ENSG00000174607. ENST00000394511; ENSP00000378019; ENSG00000174607.
GeneID	7368.
KEGG	hsa:7368.
UCSC	uc003ibs.2. human.
Organism-specific databases
CTD	7368.
GeneCards	GC04P115519.
HGNC	HGNC:12555. UGT8.
HPA	HPA014405.
MIM	601291. gene.
neXtProt	NX_Q16880.
PharmGKB	PA37195.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1819.
HOGENOM	HOG000220831.
HOVERGEN	HBG098341.
InParanoid	Q16880.
KO	K04628.
OMA	NHYSLQR.
OrthoDB	EOG4KKZ2Q.
PhylomeDB	Q16880.
Enzyme and pathway databases
UniPathway	UPA00787.
Gene expression databases
ArrayExpress	Q16880.
Bgee	Q16880.
CleanEx	HS_UGT8.
Genevestigator	Q16880.
Family and domain databases
InterPro	IPR002213. UDP_glucos_trans. [Graphical view]
PANTHER	PTHR11926. PTHR11926. 1 hit.
Pfam	PF00201. UDPGT. 1 hit. [Graphical view]
PROSITE	PS00375. UDPGT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	7368.
NextBio	28852.
SOURCE	Search...

Entry information

Entry name

CGT_HUMAN

Accession

Primary (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:	May 29, 2013
This is version 99 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.