Ugt8a UDP galactosyltransferase 8A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ugt8aprovided by MGI
Official Full Name: UDP galactosyltransferase 8Aprovided by MGI
Primary source: MGI:MGI:109522
See related: Ensembl:ENSMUSG00000032854 AllianceGenome:MGI:109522
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cgt; Ugt8; mCerGT
Summary: Predicted to enable N-acylsphingosine galactosyltransferase activity and UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity. Involved in cytoskeleton organization; nervous system development; and protein localization to paranode region of axon. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum. Is expressed in brain. Orthologous to human UGT8 (UDP glycosyltransferase 8). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in cerebellum adult (RPKM 18.2), cortex adult (RPKM 10.8) and 3 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 G1; 3 54.68 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (125655071..125732301, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (125865272..125938682, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Our study showed that the additional deletion of Fa2h does not obviously affect the phenotype of Cgt-/- mice. This suggests that HFA-GlcCer and HFA-sphingomyelin do not functionally compensate the loss of HFA-GalCer in Cgt-/- mice.
Title: Myelination in the absence of UDP-galactose:ceramide galactosyl-transferase and fatty acid 2 -hydroxylase.
Ugcg and Ugt8a deficient oligodendroglial did not exhibit any phenotypic or myelin structural abnormalities; abundant and structurally intact myelin can form in their absence
Title: Absence of oligodendroglial glucosylceramide synthesis does not result in CNS myelin abnormalities or alter the dysmyelinating phenotype of CGT-deficient mice.
This study provides new insights into the changes that occur in the composition/distribution of myelin proteins in mice lacking ceramide galactosyltransferase.
Title: Myelin protein composition is altered in mice lacking either sulfated or both sulfated and non-sulfated galactolipids.
Our results indicate that loss of CGT in oligodendrocytes is exclusively responsible for the myelin structural deficits, demyelination, and behavioral abnormalities in CGT-deficient mice.
Title: Oligodendrocyte-specific ceramide galactosyltransferase (CGT) expression phenotypically rescues CGT-deficient mice and demonstrates that CGT activity does not limit brain galactosylceramide level.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

General gene information

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Markers

Ugt8 (e-PCR), detects polymorphism
- UniSTS:144728

Ugt8a (e-PCR), detects polymorphism
- UniSTS:508027

AI850488 (e-PCR)
- UniSTS:165295

X92122 (e-PCR)
- UniSTS:125886

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

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acylsphingosine galactosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables N-acylsphingosine galactosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables N-acylsphingosine galactosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	IEA Inferred from Electronic Annotation more info
enables UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables ceramide glucosyltransferase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in galactosylceramide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within glycolipid biosynthetic process	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within myelination	TAS Traceable Author Statement more info	PubMed
involved_in neuron projection morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in paranodal junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to paranode region of axon	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 2-hydroxyacylsphingosine 1-beta-galactosyltransferase

Names: UDP-galactose-ceramide galactosyltransferase 8A; UDP-glucuronosyltransferase 8; ceramide UDP-galactosyltransferase; cerebroside synthase

NP_035804.2

EC 2.4.1.47

XP_006501373.1

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_011674.5 → NP_035804.2 2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform 1 precursor

See identical proteins and their annotated locations for NP_035804.2

Status: VALIDATED

Source sequence(s)

AC111106, AK137364, AK144005

Consensus CDS

CCDS17821.1

UniProtKB/Swiss-Prot

Q61634, Q64676, Q91W57

Related

ENSMUSP00000050852.8, ENSMUST00000057944.12

Conserved Domains (1) summary

cl10013
Location:21 → 502

Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology

RNA

NR_149311.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC111106

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

125655071..125732301 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501310.5 → XP_006501373.1 2-hydroxyacylsphingosine 1-beta-galactosyltransferase isoform X1

See identical proteins and their annotated locations for XP_006501373.1

UniProtKB/Swiss-Prot

Q61634, Q64676, Q91W57

Conserved Domains (1) summary

cl10013
Location:21 → 502

Glycosyltransferase_GTB-type; glycosyltransferase family 1 and related proteins with GTB topology