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UGT8 UDP glycosyltransferase 8 [ Homo sapiens (human) ]

Gene ID: 7368, updated on 28-Jun-2020

Summary

Official Symbol
UGT8provided by HGNC
Official Full Name
UDP glycosyltransferase 8provided by HGNC
Primary source
HGNC:HGNC:12555
See related
Ensembl:ENSG00000174607 MIM:601291
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

Genomic context

See UGT8 in Genome Data Viewer
Location:
4q26
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (114598402..114687914)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (115519611..115598202)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377379 Neighboring gene uncharacterized LOC105377380 Neighboring gene microRNA 577 Neighboring gene uncharacterized LOC105377382 Neighboring gene CIR1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
N-acylsphingosine galactosyltransferase activity TAS
Traceable Author Statement
more info
 
UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
UDP-glycosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
galactosylceramide biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
neuron projection morphogenesis IEA
Inferred from Electronic Annotation
more info
 
paranodal junction assembly IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system development TAS
Traceable Author Statement
more info
PubMed 
protein localization to paranode region of axon IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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_001309041.1
NP_001309042.1
NP_001309043.1
NP_003351.2
XP_024309975.1
XP_024309976.1
XP_024309977.1
XP_024309978.1
XP_024309979.1

NCBI Reference Sequences (RefSeq)

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_001128174.3NP_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
    Related
    ENSP00000311648.6, ENST00000310836.11
    Conserved Domains (1) summary
    cl26154
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  2. NM_001322112.1NP_001309041.1  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, AK127970, AK225763, AL137342, BC075069, BP219039, DA136980, DA140992, DA295156
    Consensus CDS
    CCDS3705.1
    UniProtKB/Swiss-Prot
    Q16880
    Conserved Domains (2) summary
    PHA03392
    Location:252491
    egt; ecdysteroid UDP-glucosyltransferase; Provisional
    pfam00201
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  3. NM_001322113.1NP_001309042.1  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, AK127970, AK225763, AL137342, BC075069, DA136980, DA140992, DA295156, DC335502
    Consensus CDS
    CCDS3705.1
    UniProtKB/Swiss-Prot
    Q16880
    Conserved Domains (2) summary
    PHA03392
    Location:252491
    egt; ecdysteroid UDP-glucosyltransferase; Provisional
    pfam00201
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  4. NM_001322114.1NP_001309043.1  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, AK225763, AL137342, BC075069, DA140992
    Consensus CDS
    CCDS3705.1
    UniProtKB/Swiss-Prot
    Q16880
    Conserved Domains (2) summary
    PHA03392
    Location:252491
    egt; ecdysteroid UDP-glucosyltransferase; Provisional
    pfam00201
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  5. NM_003360.4NP_003351.2  2-hydroxyacylsphingosine 1-beta-galactosyltransferase precursor

    See identical proteins and their annotated locations for NP_003351.2

    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, AK225763, AL137342, DA140992, U30930
    Consensus CDS
    CCDS3705.1
    UniProtKB/Swiss-Prot
    Q16880
    Related
    ENSP00000378019.3, ENST00000394511.3
    Conserved Domains (2) summary
    PHA03392
    Location:252491
    egt; ecdysteroid UDP-glucosyltransferase; Provisional
    pfam00201
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    114598402..114687914
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024454207.1XP_024309975.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

    Conserved Domains (1) summary
    cl26154
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  2. XM_024454208.1XP_024309976.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

    Conserved Domains (1) summary
    cl26154
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  3. XM_024454211.1XP_024309979.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

    Conserved Domains (1) summary
    cl26154
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  4. XM_024454209.1XP_024309977.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

    Conserved Domains (1) summary
    cl26154
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
  5. XM_024454210.1XP_024309978.1  2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

    Conserved Domains (1) summary
    cl26154
    Location:21502
    UDPGT; UDP-glucoronosyl and UDP-glucosyl transferase
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