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Aliases for UGT8 Gene

Aliases for UGT8 Gene

  • UDP Glycosyltransferase 8 2 3 5
  • 2-Hydroxyacylsphingosine 1-Beta-Galactosyltransferase 2 3
  • UDP-Galactose-Ceramide Galactosyltransferase 3 4
  • Ceramide UDP-Galactosyltransferase 3 4
  • Cerebroside Synthase 3 4
  • UGT4 3 4
  • CGT 3 4
  • UDP-Galactose Ceramide Galactosyltransferase 2
  • Uridine Diphosphate Glycosyltransferase 8 3
  • EC 2.4.1.47 4
  • EC 2.4.1 61

External Ids for UGT8 Gene

Previous HGNC Symbols for UGT8 Gene

  • CGT

Previous GeneCards Identifiers for UGT8 Gene

  • GC04P115964
  • GC04P115801
  • GC04P115978
  • GC04P116002
  • GC04P115877
  • GC04P115739
  • GC04P115519
  • GC04P111253

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 Niemann-Pick Disease, Type A and Substance-Induced Psychosis. Among its related pathways are Sphingolipid metabolism and Metabolism. GO annotations related to this gene include carbohydrate binding and glucuronosyltransferase activity. An important paralog of this gene is UGT2B17.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UGT8 Gene

Genomics for UGT8 Gene

Regulatory Elements for UGT8 Gene

Enhancers for UGT8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G114597 1.5 Ensembl ENCODE dbSUPER 27 +2.7 2691 6.7 PKNOX1 FEZF1 ZNF2 GLIS2 CBX5 SP3 JUNB TBX21 GLIS1 NBN UGT8 MIR577 GC04P114629
GH04G114592 0.7 ENCODE dbSUPER 26.3 -4.8 -4781 1.2 GATAD2B YBX1 UGT8 LOC105377380
GH04G114594 0.6 dbSUPER 26.3 -3.3 -3348 1.3 PKNOX1 MTA2 EED IKZF1 BHLHE40 ZBTB40 IKZF2 UGT8 LOC105377380
GH04G114582 0.6 ENCODE dbSUPER 25.8 -15.5 -15524 1.3 ATF2 UGT8 LOC105377380
GH04G114628 0.6 dbSUPER 18.6 +39.9 39913 20.4 ZNF664 PRDM6 SMARCA4 ZNF585B CEBPB CEBPG MAFK UGT8 GC04P114633 GC04P114658
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UGT8 on UCSC Golden Path with GeneCards custom track

Promoters for UGT8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000172279 897 1800 INSM2 KLF17 FEZF1 ZNF2 ZEB1 GLIS2 EGR1 ZNF366 EGR2 SP3

Genomic Location for UGT8 Gene

Chromosome:
4
Start:
114,598,403 bp from pter
End:
114,678,225 bp from pter
Size:
79,823 bases
Orientation:
Plus strand

Genomic View for UGT8 Gene

Genes around UGT8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGT8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGT8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Selected DME Specific Peptides for UGT8 Gene

Q16880:
  • SHGGLNS
  • PQKVIWR

Post-translational modifications for UGT8 Gene

  • Glycosylation at posLast=7878, isoforms=333, and Asn442
  • Modification sites at PhosphoSitePlus

Other Protein References for UGT8 Gene

Domains & Families for UGT8 Gene

Gene Families for UGT8 Gene

Protein Domains for UGT8 Gene

Suggested Antigen Peptide Sequences for UGT8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16880

UniProtKB/Swiss-Prot:

CGT_HUMAN :
  • Belongs to the UDP-glycosyltransferase family.
Family:
  • Belongs to the UDP-glycosyltransferase family.
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 + N-acylsphingosine = UDP + beta-D-galactosylceramide.
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:0008489 UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity IEA,TAS --
GO:0015020 glucuronosyltransferase activity IBA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016758 transferase activity, transferring hexosyl groups IEA --
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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UGT8
  • Applied Biological Materials Clones for UGT8

No data available for Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UGT8 gene
Compartment Confidence
plasma membrane 5
cytosol 3
golgi apparatus 3
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for UGT8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
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 & Interactions for UGT8 Gene

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

UniProtKB/Swiss-Prot Q16880-CGT_HUMAN

  • Pathway: Sphingolipid metabolism; galactosylceramide biosynthesis.

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:0006629 lipid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA --
GO:0006682 galactosylceramide biosynthetic process IEA --
GO:0006687 glycosphingolipid metabolic process TAS --
genes like me logo Genes that share ontologies with UGT8: view

No data available for SIGNOR curated interactions for UGT8 Gene

Drugs & Compounds for UGT8 Gene

(4) Drugs for UGT8 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine diphosphategalactose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

(41) Additional Compounds for UGT8 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cer(d18:0/12:0)
Cer(d18:0/14:0)
Cer(d18:0/16:0)
Cer(d18:0/18:0)
Cer(d18:0/18:1(11Z))
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for UGT8
  • Applied Biological Materials Clones for UGT8

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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) (x16.9), Brain - Substantia nigra (x7.6), and Brain - Hippocampus (x4.5).

Protein differential expression in normal tissues from HIPED for UGT8 Gene

This gene is overexpressed in Synovial fluid (38.7) and Monocytes (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for UGT8 Gene



NURSA nuclear receptor signaling pathways regulating expression of UGT8 Gene:

UGT8

SOURCE GeneReport for Unigene cluster for UGT8 Gene:

Hs.144197

Evidence on tissue expression from TISSUES for UGT8 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with UGT8: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for UGT8 Gene

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 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia UGT8 34 35
  • 94.33 (n)
cow
(Bos Taurus)
Mammalia UGT8 34 35
  • 92.79 (n)
rat
(Rattus norvegicus)
Mammalia Ugt8 34
  • 90.14 (n)
mouse
(Mus musculus)
Mammalia Ugt8a 34 16 35
  • 90.08 (n)
oppossum
(Monodelphis domestica)
Mammalia UGT8 35
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia UGT8 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves CGT 35
  • 84 (a)
OneToOne
UGT8 34
  • 81.08 (n)
lizard
(Anolis carolinensis)
Reptilia UGT8 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ugt8 34
  • 73.06 (n)
Str.9727 34
zebrafish
(Danio rerio)
Actinopterygii UGT8 35
  • 69 (a)
OneToOne
zgc:136652 34
  • 68.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG30438 34 35
  • 46.45 (n)
Ugt86Dc 36 35
  • 34 (a)
Ugt86Di 36 35
  • 34 (a)
Ugt86Dj 36 35
  • 34 (a)
Ugt86Dd 36 35
  • 33 (a)
Ugt36Bc 36 35
  • 32 (a)
Ugt37a1 36 35
  • 31 (a)
Ugt86Da 36 35
  • 31 (a)
CG5724 36 35
  • 30 (a)
Ugt86Dh 36 35
  • 29 (a)
Ugt35b 35
  • 29 (a)
ManyToMany
CG16732 36 35
  • 28 (a)
CG17323 36 35
  • 28 (a)
CG10170 36 35
  • 26 (a)
CG5999 36 35
  • 26 (a)
CG4302 35
  • 26 (a)
ManyToMany
CG6475 35
  • 26 (a)
ManyToMany
CG10168 36 35
  • 25 (a)
CG10178 35
  • 25 (a)
ManyToMany
CG15661 35
  • 25 (a)
ManyToMany
CG17322 35
  • 25 (a)
ManyToMany
Ugt36Ba 35
  • 25 (a)
ManyToMany
Ugt37c1 35
  • 25 (a)
ManyToMany
Ugt36Bb 35
  • 24 (a)
ManyToMany
Ugt86De 35
  • 24 (a)
ManyToMany
CG17324 35
  • 23 (a)
ManyToMany
Ugt35a 35
  • 23 (a)
ManyToMany
Ugt37b1 35
  • 23 (a)
ManyToMany
Ugt86Dg 35
  • 23 (a)
ManyToMany
CG31002 35
  • 22 (a)
ManyToMany
CG11289 35
  • 20 (a)
ManyToMany
Dot 35
  • 20 (a)
ManyToMany
CG3797 35
  • 18 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002449 34
  • 44.88 (n)
worm
(Caenorhabditis elegans)
Secernentea ugt-58 34 35
  • 44.49 (n)
C17G1.3 36
  • 29 (a)
F10D2.5 36
  • 28 (a)
F35H8.6 36
  • 28 (a)
F01E11.1 36
  • 27 (a)
AC3.2 36
  • 26 (a)
F01D4.1 36
  • 25 (a)
F01D4.2 36
  • 25 (a)
T07C5.1a 36
  • 25 (a)
T03D3.1 36
  • 24 (a)
T19H12.11 36
  • 24 (a)
T19H12.9 36
  • 24 (a)
AC3.8 36
  • 23 (a)
C10H11.5 36
  • 23 (a)
C33A12.6 36
  • 23 (a)
Species where no ortholog for UGT8 was found in the sources mined by GeneCards:
  • 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

Variants for UGT8 Gene

Sequence variations from dbSNP and Humsavar for UGT8 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000048246 -- 114,685,215(+) ACAGC(A/G)TGTTC nc-transcript-variant
rs1000072902 -- 114,601,951(+) GTGGG(A/C)TATTG intron-variant
rs10001078 -- 114,612,619(+) AGTAC(A/G)TTATT intron-variant
rs1000111648 -- 114,653,701(+) GAAAA(C/G)TGGGC intron-variant
rs10001168 -- 114,684,383(+) AATGC(A/T)GGGAT nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
esv2752021 CNV gain 17911159
esv2759275 CNV loss 17122850
esv3408695 CNV insertion 20981092
esv3601829 CNV gain 21293372
esv3601835 CNV gain 21293372
esv3601837 CNV loss 21293372
nsv1002816 CNV gain 25217958
nsv4478 CNV deletion 18451855
nsv4479 CNV deletion 18451855
nsv509924 OTHER sequence alteration 20534489
nsv524515 CNV gain 19592680
nsv830039 CNV gain 17160897
nsv949809 CNV deletion 24416366

Variation tolerance for UGT8 Gene

Residual Variation Intolerance Score: 58.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.28; 70.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UGT8 Gene

Human Gene Mutation Database (HGMD)
UGT8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UGT8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGT8 Gene

Disorders for UGT8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for UGT8 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
niemann-pick disease, type a
  • niemann-pick disease type a
substance-induced psychosis
niemann-pick disease
  • niemann-pick disease, type a
oligodendroglioma
  • oligodendroglial neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search UGT8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for UGT8

Genetic Association Database (GAD)
UGT8
Human Genome Epidemiology (HuGE) Navigator
UGT8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UGT8
genes like me logo Genes that share disorders with UGT8: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  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 22 64
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 64
  4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A. … Kamatani N. (J. Hum. Genet. 2009) 3 46 64
  5. Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy. (PMID: 19898482) Ross C.J. … Hayden M.R. (Nat. Genet. 2009) 3 46 64

Products for UGT8 Gene

  • Addgene plasmids for UGT8

Sources for UGT8 Gene

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