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    UGT8 UDP glycosyltransferase 8 [ Homo sapiens (human) ]

    Gene ID: 7368, updated on 11-Apr-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
    mouse all
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (114598402..114678225)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (117901444..117981528)
    105.20220307 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
    • 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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    Related articles in PubMed

    1. Inhibition of UGT8 suppresses basal-like breast cancer progression by attenuating sulfatide-αVβ5 axis. Cao Q, et al. J Exp Med, 2018 Jun 4. PMID 29728441, Free PMC Article
    2. Microbubble-based enhancement of radiation effect: Role of cell membrane ceramide metabolism. Al-Mahrouki A, et al. PLoS One, 2017. PMID 28746357, Free PMC Article
    3. Expression of Ceramide Galactosyltransferase (UGT8) in Primary and Metastatic Lung Tissues of Non-Small-Cell Lung Cancer. Rzechonek A, et al. Adv Exp Med Biol, 2016. PMID 27620310
    4. A novel function for UDP glycosyltransferase 8: galactosidation of bile acids. Meech R, et al. Mol Pharmacol, 2015. PMID 25519837
    5. Galactosylceramide affects tumorigenic and metastatic properties of breast cancer cells as an anti-apoptotic molecule. Owczarek TB, et al. PLoS One, 2013. PMID 24391908, Free PMC Article

    See all (50) citations in PubMed

    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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 2-hydroxyacylsphingosine 1-beta-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

    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_2023_10

    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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