Ugt8a MGI Mouse Gene Detail - MGI:109522 - UDP galactosyltransferase 8A

Symbol

Ugt8a
Name

UDP galactosyltransferase 8A
Synonyms

Cgt, mCerGT, Ugt8

Feature Type

protein coding gene
IDs

MGI:109522
NCBI Gene: 22239
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr3:125658920-125732268 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 54.68 cM, cytoband E3-F1
Mapping Data

4 experiments

SNPs within 2kb

1795 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109522	protein coding gene	Chr3:125655071-125732301 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0027856	protein coding gene	Chr3:128271705-128347736 (-)
A/J	MGP_AJ_G0027815	protein coding gene	Chr3:123884280-123952995 (-)
AKR/J	MGP_AKRJ_G0027780	protein coding gene	Chr3:127100950-127170063 (-)
BALB/cJ	MGP_BALBcJ_G0027827	protein coding gene	Chr3:123743200-123809456 (-)
C3H/HeJ	MGP_C3HHeJ_G0027557	protein coding gene	Chr3:127460243-127533694 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0028272	protein coding gene	Chr3:132911057-132989767 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025609	protein coding gene	Chr3:119200832-119263490 (-)
CAST/EiJ	MGP_CASTEiJ_G0027012	protein coding gene	Chr3:126958154-127033119 (-)
CBA/J	MGP_CBAJ_G0027532	protein coding gene	Chr3:137354662-137426040 (-)
DBA/2J	MGP_DBA2J_G0027673	protein coding gene	Chr3:123107626-123182775 (-)
FVB/NJ	MGP_FVBNJ_G0027641	protein coding gene	Chr3:120700002-120777195 (-)
LP/J	MGP_LPJ_G0027783	protein coding gene	Chr3:129797698-129870531 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027671	protein coding gene	Chr3:145295298-145394495 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028328	protein coding gene	Chr3:126738675-126808248 (-)
PWK/PhJ	MGP_PWKPhJ_G0026738	protein coding gene	Chr3:122843612-122914359 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0026562	protein coding gene	Chr3:124780775-124854970 (-)
WSB/EiJ	MGP_WSBEiJ_G0027092	protein coding gene	Chr3:127423401-127506714 (-)

Human Ortholog

UGT8, UDP glycosyltransferase 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

UGT8, UDP glycosyltransferase 8
Synonyms

CGT, UGT4
Links

HGNC:12555

NCBI Gene ID: 7368

neXtProt AC: NX_Q16880

UniProt: Q16880
Chr Location

4q26; chr4:114598402-114678225 (+) GRCh38

MGI Vertebrate Homology

Ugt8a stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: UGT8
Gene Tree

Ugt8a

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References

1 with disease annotations

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Phenotype Summary

18 phenotypes from 2 alleles in 3 genetic backgrounds
4 phenotypes from multigenic genotypes
2 images
39 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

7
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Ugt8a
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutants fail to make galactolipid galactocerebroside and its sulfated derivative that are normal myelin constituents. Mutants have tremors, ataxia, progressive hindlimb paralysis and vacuole formation in ventral spinal cord due to abnormal myelin sheath.

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All GO Annotations

21
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

731
Tissues

22
cDNA Data

22
Literature Summary

11

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN ugt8

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All Sequences

46
RefSeq

5
UniProt

1
CCDS

CCDS17821.1

Ensembl

ENSMUSG00000032854 (Evidence)
NCBI Gene

22239

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032854	Ensembl Gene Model \| MGI Sequence Detail	73349	C57BL/6J	± kb
transcript	ENSMUST00000198610	Ensembl \| MGI Sequence Detail	3762	Not Applicable
polypeptide	ENSMUSP00000143605	Ensembl \| MGI Sequence Detail	541	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000017068 2-hydroxyacylsphingosine 1-beta-galactosyltransferase

(term hierarchy)
EC

2.4.1.47
InterPro Domains

IPR002213 UDP-glucuronosyl/UDP-glucosyltransferase

IPR050271 UDP-glycosyltransferase

IPR035595 UDP-glycosyltransferase family, conserved site
GlyGen

Q64676 3 sites, 13 N-linked glycans (3 sites)

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All nucleic 42

Genomic 15

cDNA 22

Primer pair 3

Other 2

Microarray probesets 5

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MGD-MRK-36113, MGD-MRK-39521, MGI:2139820, MGI:2139983

Summaries

All 85

Developmental Gene Expression 11

Diseases 1

Gene Ontology 8

Phenotypes 39
Earliest

J:33930 Bosio A, et al., Molecular cloning and characterization of the mouse CGT gene encoding UDP-galactose ceramide-galactosyltransferase (cerebroside synthetase). Genomics. 1996 Jul 1;35(1):223-6
Latest

J:288683 Gacem N, et al., ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development. Nat Commun. 2020 Jan 10;11(1):198

TSS for Ugt8a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr35520	Chr3:125732255-125732266 (-)	7 bp
Tssr35519	Chr3:125732186-125732254 (-)	48 bp
Tssr35518	Chr3:125732171-125732185 (-)	90 bp
Tssr35517	Chr3:125732146-125732166 (-)	112 bp
Tssr35516	Chr3:125732133-125732145 (-)	129 bp
Tssr35515	Chr3:125729579-125729583 (-)	2,687 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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