UGT8 UDP glycosyltransferase 8 [Homo sapiens (human)] - Gene

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; 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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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)

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

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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

NoName (e-PCR)
- UniSTS:482315

STS-N34941 (e-PCR)
- UniSTS:42014

D11S3017 (e-PCR)
- UniSTS:152121

UGT8 (e-PCR)
- UniSTS:503384

D11S2766 (e-PCR)
- UniSTS:151969

UGT8_8706 (e-PCR)
- UniSTS:468162

SHGC-67299 (e-PCR)
- UniSTS:85488

Ugt8a (e-PCR), detects polymorphism
- UniSTS:495858

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

EC 2.4.1.47

NP_001309041.2

EC 2.4.1.47

NP_001309042.2

EC 2.4.1.47

NP_001309043.2

EC 2.4.1.47

NP_003351.3

EC 2.4.1.47

XP_024309978.1

EC 2.4.1.47

XP_047272089.1

EC 2.4.1.47

XP_047272090.1

EC 2.4.1.47

XP_047272091.1

EC 2.4.1.47

XP_054206769.1

EC 2.4.1.47

XP_054206770.1

EC 2.4.1.47

XP_054206771.1

EC 2.4.1.47

XP_054206772.1

EC 2.4.1.47

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)

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
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
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
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
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

114598402..114678225

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B3KXU7, O00196, Q16880
XM_047416135.1 → XP_047272091.1 2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

UniProtKB/Swiss-Prot

B3KXU7, O00196, Q16880
XM_047416133.1 → XP_047272089.1 2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

UniProtKB/Swiss-Prot

B3KXU7, O00196, Q16880
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

NC_060928.1 Alternate T2T-CHM13v2.0

Range

117901444..117981528

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054350796.1 → XP_054206771.1 2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1
XM_054350797.1 → XP_054206772.1 2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1
XM_054350794.1 → XP_054206769.1 2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1
XM_054350795.1 → XP_054206770.1 2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1