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Aliases for UGT8 Gene

Aliases for UGT8 Gene

  • UDP Glycosyltransferase 8 2 3
  • CGT 3 4 6
  • 2-Hydroxyacylsphingosine 1-Beta-Galactosyltransferase 2 3
  • UDP-Galactose Ceramide Galactosyltransferase 2 3
  • UDP-Galactose-Ceramide Galactosyltransferase 3 4
  • Ceramide UDP-Galactosyltransferase 3 4
  • Cerebroside Synthase 3 4
  • UGT4 3 4
  • Uridine Diphosphate Glycosyltransferase 8 3
  • EC 2.4.1.45 4
  • EC 2.4.1 64

External Ids for UGT8 Gene

Previous Symbols for UGT8 Gene

  • CGT

Summaries for UGT8 Gene

Entrez Gene Summary for UGT8 Gene

  • The protein encoded by this gene belongs to the UDP-glycosyltransferase family. It 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 and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for UGT8 Gene

UGT8 (UDP Glycosyltransferase 8) is a Protein Coding gene. Diseases associated with UGT8 include metachromatic leukodystrophy and galactosemia. Among its related pathways are Sphingolipid metabolism and Metabolism. GO annotations related to this gene include UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity and 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity. An important paralog of this gene is UGT2B15.

UniProtKB/Swiss-Prot for UGT8 Gene

  • 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

Gene Wiki entry for UGT8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UGT8 Gene

Genomics for UGT8 Gene

Genomic Location for UGT8 Gene

Start:
114,598,455 bp from pter
End:
114,678,225 bp from pter
Size:
79,771 bases
Orientation:
Plus strand

Genomic View for UGT8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for UGT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGT8 Gene

Regulatory Elements for UGT8 Gene

Proteins for UGT8 Gene

  • Protein details for UGT8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16880-CGT_HUMAN
    Recommended name:
    2-hydroxyacylsphingosine 1-beta-galactosyltransferase
    Protein Accession:
    Q16880
    Secondary Accessions:
    • B3KXU7
    • O00196

    Protein attributes for UGT8 Gene

    Size:
    541 amino acids
    Molecular mass:
    61438 Da
    Quaternary structure:
    No Data Available

neXtProt entry for UGT8 Gene

Proteomics data for UGT8 Gene at MOPED

Selected DME Specific Peptides for UGT8 Gene

Post-translational modifications for UGT8 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn78, Asn333, and Asn442

Other Protein References for UGT8 Gene

Domains for UGT8 Gene

Gene Families for UGT8 Gene

HGNC:
  • UGT :UDP glucuronosyltransferases

Protein Domains for UGT8 Gene

UniProtKB/Swiss-Prot:

CGT_HUMAN
Family:
  • Belongs to the UDP-glycosyltransferase family.:
    • Q16880
genes like me logo Genes that share domains with UGT8: view

Function for UGT8 Gene

Molecular function for UGT8 Gene

GENATLAS Biochemistry: UDP glycosyltransferase 8,UDP-galactose ceramide galactosyl transferase,expressed in the terminal oligodendrocyte (CNS) and in Schwann cell (PNS)
UniProtKB/Swiss-Prot CatalyticActivity: UDP-alpha-D-galactose + 2-(2-hydroxyacyl)sphingosine = UDP + 1-(beta-D-galactosyl)-2-(2-hydroxyacyl)sphingosine
UniProtKB/Swiss-Prot 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

Enzyme Numbers (IUBMB) for UGT8 Gene

Gene Ontology (GO) - Molecular Function for UGT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003851 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity IEA --
GO:0008489 UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity IEA --
GO:0015020 glucuronosyltransferase activity IBA --
GO:0016758 transferase activity, transferring hexosyl groups --
GO:0030246 carbohydrate binding --
genes like me logo Genes that share ontologies with UGT8: view
genes like me logo Genes that share phenotypes with UGT8: view

Animal Models for UGT8 Gene

MGI Knock Outs for UGT8:

No data available for Transcription Factor Targeting and HOMER Transcription for UGT8 Gene

Localization for UGT8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGT8 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UGT8 Gene COMPARTMENTS Subcellular localization image for UGT8 gene
Compartment Confidence
golgi apparatus 3
plasma membrane 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for UGT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with UGT8: view

Pathways for UGT8 Gene

SuperPathways for UGT8 Gene

genes like me logo Genes that share pathways with UGT8: view

Pathways by source for UGT8 Gene

2 KEGG pathways for UGT8 Gene

UniProtKB/Swiss-Prot Q16880-CGT_HUMAN

  • Pathway: Sphingolipid metabolism; galactosylceramide biosynthesis

Interacting Proteins for UGT8 Gene

Gene Ontology (GO) - Biological Process for UGT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002175 protein localization to paranode region of axon IEA --
GO:0005975 carbohydrate metabolic process --
GO:0006682 galactosylceramide biosynthetic process IEA --
GO:0007010 cytoskeleton organization IEA --
GO:0007417 central nervous system development TAS 8661025
genes like me logo Genes that share ontologies with UGT8: view

Compounds for UGT8 Gene

(44) HMDB Compounds for UGT8 Gene

Compound Synonyms Cas Number PubMed IDs
Cer(d18:0/12:0)
Not Available
Cer(d18:0/14:0)
Not Available
Cer(d18:0/16:0)
Not Available
Cer(d18:0/18:0)
Not Available
Cer(d18:0/18:1(11Z))
Not Available

(7) Novoseek inferred chemical compound relationships for UGT8 Gene

Compound -log(P) Hits PubMed IDs
cerebroside 85.9 5
glycosphingolipid 80.1 3
ceramide 79.4 11
lactosylceramide 77.6 2
sulfatide 65.9 2
genes like me logo Genes that share compounds with UGT8: view

Transcripts for UGT8 Gene

Unigene Clusters for UGT8 Gene

UDP glycosyltransferase 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UGT8 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
SP1: -
SP2:

Relevant External Links for UGT8 Gene

GeneLoc Exon Structure for
UGT8
ECgene alternative splicing isoforms for
UGT8

Expression for UGT8 Gene

mRNA expression in normal human tissues for UGT8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UGT8 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (16.9), Brain - Substantia nigra (7.6), and Brain - Hippocampus (4.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for UGT8 Gene

SOURCE GeneReport for Unigene cluster for UGT8 Gene Hs.144197

genes like me logo Genes that share expressions with UGT8: view

Orthologs for UGT8 Gene

This gene was present in the common ancestor of animals.

Orthologs for UGT8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UGT8 36
  • 99.57 (n)
  • 99.82 (a)
UGT8 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UGT8 36
  • 92.79 (n)
  • 95.19 (a)
UGT8 37
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UGT8 36
  • 94.33 (n)
  • 97.6 (a)
UGT8 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ugt8a 36
  • 90.08 (n)
  • 93.35 (a)
Ugt8a 16
Ugt8a 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UGT8 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UGT8 37
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ugt8 36
  • 90.14 (n)
  • 93.35 (a)
chicken
(Gallus gallus)
Aves CGT 37
  • 84 (a)
OneToOne
UGT8 36
  • 81.08 (n)
  • 84.66 (a)
lizard
(Anolis carolinensis)
Reptilia UGT8 37
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.9727 36
ugt8 36
  • 73.06 (n)
  • 75.79 (a)
zebrafish
(Danio rerio)
Actinopterygii UGT8 37
  • 69 (a)
OneToOne
zgc:136652 36
  • 68.29 (n)
  • 71.86 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002449 36
  • 44.88 (n)
  • 34.65 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10168 37
  • 20 (a)
ManyToMany
CG10170 37
  • 20 (a)
ManyToMany
CG10178 37
  • 25 (a)
ManyToMany
CG11289 37
  • 20 (a)
ManyToMany
CG15661 37
  • 25 (a)
ManyToMany
CG16732 37
  • 20 (a)
ManyToMany
CG17322 37
  • 25 (a)
ManyToMany
CG17323 37
  • 25 (a)
ManyToMany
CG17324 37
  • 23 (a)
ManyToMany
CG30438 36
  • 46.45 (n)
  • 35.4 (a)
CG30438 37
  • 29 (a)
ManyToMany
CG31002 37
  • 22 (a)
ManyToMany
CG3797 37
  • 18 (a)
ManyToMany
CG4302 37
  • 26 (a)
ManyToMany
CG5724 37
  • 24 (a)
ManyToMany
CG5999 37
  • 22 (a)
ManyToMany
CG6475 37
  • 26 (a)
ManyToMany
Dot 37
  • 20 (a)
ManyToMany
Ugt35a 37
  • 23 (a)
ManyToMany
Ugt35b 37
  • 29 (a)
ManyToMany
Ugt36Ba 37
  • 25 (a)
ManyToMany
Ugt36Bb 37
  • 24 (a)
ManyToMany
Ugt36Bc 37
  • 23 (a)
ManyToMany
Ugt37a1 37
  • 24 (a)
ManyToMany
Ugt37b1 37
  • 23 (a)
ManyToMany
Ugt37c1 37
  • 25 (a)
ManyToMany
Ugt86Da 37
  • 26 (a)
ManyToMany
Ugt86Dc 37
  • 25 (a)
ManyToMany
Ugt86Dd 37
  • 26 (a)
ManyToMany
Ugt86De 37
  • 24 (a)
ManyToMany
Ugt86Dg 37
  • 23 (a)
ManyToMany
Ugt86Dh 37
  • 22 (a)
ManyToMany
Ugt86Di 37
  • 25 (a)
ManyToMany
Ugt86Dj 37
  • 23 (a)
ManyToMany
Ugt86Da 38
  • 31 (a)
CG16732 38
  • 28 (a)
CG10168 38
  • 25 (a)
Ugt36Bc 38
  • 32 (a)
CG10170 38
  • 26 (a)
CG5999 38
  • 26 (a)
Ugt86Di 38
  • 34 (a)
Ugt86Dd 38
  • 33 (a)
Ugt86Dh 38
  • 29 (a)
Ugt86Dc 38
  • 34 (a)
CG5724 38
  • 30 (a)
Ugt37a1 38
  • 31 (a)
CG17323 38
  • 28 (a)
Ugt86Dj 38
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea ugt-58 36
  • 44.49 (n)
  • 32.05 (a)
ugt-58 37
  • 25 (a)
OneToMany
T07C5.1a 38
  • 25 (a)
C17G1.3 38
  • 29 (a)
F10D2.5 38
  • 28 (a)
T03D3.1 38
  • 24 (a)
F35H8.6 38
  • 28 (a)
F01D4.2 38
  • 25 (a)
AC3.2 38
  • 26 (a)
F01E11.1 38
  • 27 (a)
T19H12.9 38
  • 24 (a)
AC3.8 38
  • 23 (a)
C33A12.6 38
  • 23 (a)
C10H11.5 38
  • 23 (a)
T19H12.11 38
  • 24 (a)
F01D4.1 38
  • 25 (a)
Species with no ortholog for UGT8:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for UGT8 Gene

ENSEMBL:
Gene Tree for UGT8 (if available)
TreeFam:
Gene Tree for UGT8 (if available)

Paralogs for UGT8 Gene

genes like me logo Genes that share paralogs with UGT8: view

Variants for UGT8 Gene

Sequence variations from dbSNP and Humsavar for UGT8 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs15601 -- 114,677,748(-) CAGAT(A/G)TGGGA utr-variant-3-prime
rs3924508 -- 114,597,722(-) ACGTG(A/G)ACTGA upstream-variant-2KB
rs4130705 -- 114,609,479(-) GTATA(C/T)TGCAC intron-variant
rs4148254 - 114,623,557(+) GCTGC(C/T)AGAGA reference, missense
rs4148255 -- 114,623,621(+) GTAGC(A/G)CTGGA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for UGT8 Gene

Variant ID Type Subtype PubMed ID
nsv524515 CNV Gain 19592680
esv2752021 CNV Gain 17911159
dgv1661e1 CNV Complex 17122850
nsv879735 CNV Gain 21882294
nsv830039 CNV Gain 17160897
nsv4478 CNV Loss 18451855
esv271385 CNV Insertion 20981092
esv273665 CNV Insertion 20981092
nsv4479 CNV Loss 18451855
nsv509924 CNV Loss 20534489

Relevant External Links for UGT8 Gene

HapMap Linkage Disequilibrium report
UGT8
Human Gene Mutation Database (HGMD)
UGT8

Disorders for UGT8 Gene

(1) University of Copenhagen DISEASES for UGT8 Gene

(2) Novoseek inferred disease relationships for UGT8 Gene

Disease -log(P) Hits PubMed IDs
oligodendroglioma 64 2
tumors 0 4

Relevant External Links for UGT8

Genetic Association Database (GAD)
UGT8
Human Genome Epidemiology (HuGE) Navigator
UGT8
genes like me logo Genes that share disorders with UGT8: view

No data available for UniProtKB/Swiss-Prot for UGT8 Gene

Publications for UGT8 Gene

  1. The human gene CGT encoding the UDP-galactose ceramide galactosyl transferase (cerebroside synthase): cloning, characterization, and assignment to human chromosome 4, band q26. (PMID: 8661025) Bosio A. … Stoffel W. (Genomics 1996) 2 3 4 23
  2. Cloning, characterization, and expression of human ceramide galactosyltransferase cDNA. (PMID: 9125199) Kapitonov D.E. … Yu R.K. (Biochem. Biophys. Res. Commun. 1997) 3 4 23
  3. Transcriptional regulation of the human UDP-galactose:ceramide galactosyltransferase (hCGT) gene expression: functional role of GC-box and CRE. (PMID: 15229398) Tencomnao T. … Yu R.K. (Glycoconj. J. 2004) 3 23
  4. The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia. (PMID: 16125333) Lebea P.J. … Pretorius P.J. (Med. Hypotheses 2005) 3 23
  5. Gene expression of ceramide kinase, galactosyl ceramide synthase and ganglioside GD3 synthase is associated with prognosis in breast cancer. (PMID: 19125296) RuckhAoberle E. … Kaufmann M. (J. Cancer Res. Clin. Oncol. 2009) 3 23

Products for UGT8 Gene

Sources for UGT8 Gene

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