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UGT8 UDP glycosyltransferase 8 [ Homo sapiens (human) ]

Gene ID: 7368, updated on 3-Nov-2024

Summary

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Official Symbol
UGT8provided by HGNC
Official Full Name
UDP glycosyltransferase 8provided by HGNC
Primary source
HGNC:HGNC:12555
See related
Ensembl:ENSG00000174607 MIM:601291; AllianceGenome:HGNC:12555
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CGT; UGT4
Summary
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]
Expression
Biased expression in brain (RPKM 15.7), colon (RPKM 5.2) and 10 other tissues See more
Orthologs
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Genomic context

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See UGT8 in Genome Data Viewer
Location:
4q26
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (114598402..114678225)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (117901444..117981528)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (115519558..115599381)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377379 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:115415345-115415970 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:115416597-115417222 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:115417223-115417847 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:115434688-115434933 Neighboring gene NANOG hESC enhancer GRCh37_chr4:115462958-115463459 Neighboring gene uncharacterized LOC105377380 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:115483127-115483970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21840 Neighboring gene microRNA 577 Neighboring gene uncharacterized LOC124900763 Neighboring gene uncharacterized LOC105377382 Neighboring gene CIR1 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SOX9-mediated UGT8 expression promotes glycolysis and maintains the malignancy of non-small cell lung cancer.
    Title: SOX9-mediated UGT8 expression promotes glycolysis and maintains the malignancy of non-small cell lung cancer.
  2. High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma
    Title: High FA2H and UGT8 transcript levels predict hydroxylated hexosylceramide accumulation in lung adenocarcinoma.
  3. UGT8 is a potential prognostic indicator and druggable target of basal-like breast cancer.
    Title: Inhibition of UGT8 suppresses basal-like breast cancer progression by attenuating sulfatide-αVβ5 axis.
  4. An increase in the immunolabelling of ceramide was observed in cells where UDP glycosyltransferase 8 (UGT8) was down-regulated as opposed to cells where UGT8 was either not regulated or was up-regulated.
    Title: Microbubble-based enhancement of radiation effect: Role of cell membrane ceramide metabolism.
  5. Data indicate that ceramide galactosyltransferase (UGT8), although enhanced in non-small cell lung carcinoma (NSCLC) tissues, does not meet the criteria of a lung tumor marker.
    Title: Expression of Ceramide Galactosyltransferase (UGT8) in Primary and Metastatic Lung Tissues of Non-Small-Cell Lung Cancer.
  6. Our study suggests that CGT expression is controlled by balanced expression of the negative modulator OLIG2 and positive regulator Nkx2.2, providing new insights into how expression of GalCer is tightly regulated in cell-type- and stage-specific manners.
    Title: Ceramide galactosyltransferase expression is regulated positively by Nkx2.2 and negatively by OLIG2.
  7. A new role was identified for UGT8 as a modulator of bile acid homeostasis.
    Title: A novel function for UDP glycosyltransferase 8: galactosidation of bile acids.
  8. High expression of UGT8 accompanied by accumulation of GalCer in MDA-MB-231 cells is associated with a much higher proliferative index and a lower number of apoptotic cells in comparison to the MDA/LUC-shUGT8 cells.
    Title: Galactosylceramide affects tumorigenic and metastatic properties of breast cancer cells as an anti-apoptotic molecule.
  9. Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population.
    Title: Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population.
  10. UGT8 is a significant index of tumour aggressiveness and is seen in lung metastases of breast cancer.
    Title: Ceramide galactosyltransferase (UGT8) is a molecular marker of breast cancer malignancy and lung metastases.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Galactosyl ceramide (GalCer) or sulfatide (sul) may serve as an alternate receptor for human immunodeficiency virus (HIV) in neural cell; the amino acids of HIV-1 gp120 responsible for GalCer/sul binding reside between amino acids 206 and 275 PubMed
env Treatment of human colonic epithelial cells with recombinant gamma-interferon (rlFN gamma) induces a dose-dependent inhibition of Galactosyl ceramide (GalCer) expression on the cell surface; GalCer is a receptor for HIV-1 gp120 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acylsphingosine galactosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N-acylsphingosine galactosyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables N-acylsphingosine galactosyltransferase activity TAS
Traceable Author Statement
more info
  
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in central nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
  
involved_in galactosylceramide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in galactosylceramide biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in galactosylceramide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in glycosphingolipid biosynthetic process TAS
Traceable Author Statement
more info
  
involved_in neuron projection morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in paranodal junction assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in peripheral nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in protein localization to paranode region of axon IEA
Inferred from Electronic Annotation
more info
  
involved_in response to immobilization stress IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
2-hydroxyacylsphingosine 1-beta-galactosyltransferase
Names
UDP-galactose-ceramide galactosyltransferase
ceramide UDP-galactosyltransferase
cerebroside synthase
uridine diphosphate glycosyltransferase 8
NP_001121646.2
NP_001309041.2
NP_001309042.2
NP_001309043.2
NP_003351.3
XP_024309978.1
XP_047272089.1
XP_047272090.1
XP_047272091.1
XP_054206769.1
XP_054206770.1
XP_054206771.1
XP_054206772.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001128174.3 → NP_001121646.2  2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript. Variants 1-5 encode the same protein.
    Source sequence(s)
    AC122938, AC127386
    Consensus CDS
    CCDS3705.1
    UniProtKB/Swiss-Prot
    B3KXU7, O00196, Q16880
    Related
    ENSP00000311648.6, ENST00000310836.11
    Conserved Domains (1) summary
    cl10013
    Location:21 → 502
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

  2. NM_001322112.2 → NP_001309041.2  2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an additional 5' non-coding exon compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AC122938, AC127386
    Consensus CDS
    CCDS3705.1
    UniProtKB/Swiss-Prot
    B3KXU7, O00196, Q16880
    Related
    ENSP00000421446.2, ENST00000507710.2

  3. NM_001322113.2 → NP_001309042.2  2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate donor splice site at the 5' non-coding exon compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AC122938, AC127386
    Consensus CDS
    CCDS3705.1
    UniProtKB/Swiss-Prot
    B3KXU7, O00196, Q16880

  4. NM_001322114.2 → NP_001309043.2  2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' non-coding exon compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AC122938, AC127386
    Consensus CDS
    CCDS3705.1
    UniProtKB/Swiss-Prot
    B3KXU7, O00196, Q16880
    Conserved Domains (1) summary
    cl10013
    Location:21 → 502
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

  5. NM_003360.5 → NP_003351.3  2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-5 encode the same protein.
    Source sequence(s)
    AC122938
    Consensus CDS
    CCDS3705.1
    UniProtKB/Swiss-Prot
    B3KXU7, O00196, Q16880
    Related
    ENSP00000378019.3, ENST00000394511.3
    Conserved Domains (1) summary
    cl10013
    Location:21 → 502
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    114598402..114678225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416134.1 → XP_047272090.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

    UniProtKB/Swiss-Prot
    B3KXU7, O00196, Q16880

  2. XM_047416135.1 → XP_047272091.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

    UniProtKB/Swiss-Prot
    B3KXU7, O00196, Q16880

  3. XM_047416133.1 → XP_047272089.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

    UniProtKB/Swiss-Prot
    B3KXU7, O00196, Q16880

  4. XM_024454210.2 → XP_024309978.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

    UniProtKB/Swiss-Prot
    B3KXU7, O00196, Q16880
    Conserved Domains (1) summary
    cl10013
    Location:21 → 502
    Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    117901444..117981528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350796.1 → XP_054206771.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

  2. XM_054350797.1 → XP_054206772.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

  3. XM_054350794.1 → XP_054206769.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

  4. XM_054350795.1 → XP_054206770.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q16880.2 GenPept UniProtKB/Swiss-Prot:Q16880

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