Galt galactose-1-phosphate uridyl transferase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Galtprovided by MGI
Official Full Name: galactose-1-phosphate uridyl transferaseprovided by MGI
Primary source: MGI:MGI:95638
See related: Ensembl:ENSMUSG00000036073 AllianceGenome:MGI:95638
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: The protein encoded by this gene is the second enzyme in the Leloir pathway, the metabolic pathway for D-galactose catabolism. It catalyzes the conversion of galactose-1-phosphate and uridine diphosphate-glucose to glucose-1-phosphate and uridine diphosphate galactose. Deficiency of this enzyme causes the genetic metabolic disorder galactosemia. Mice lacking this protein accumulate high levels of galactose and galactose-1 phosphate but are viable and fertile. This protein is negatively regulated through signaling by the polypeptide hormone prolactin, specifically via the short isoform of the prolactin receptor and the transcription factor Forkhead box O3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Expression: Ubiquitous expression in liver adult (RPKM 41.7), kidney adult (RPKM 31.6) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A5; 4 22.07 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (41755517..41759243)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (41755517..41759243)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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?

Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Title: Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Our results thus demonstrated that GalT deficiency can effect down-regulation of the PI3K/Akt growth signaling pathway in mouse fibroblasts through distinct mechanisms targeting both gene and protein expression levels.
Title: Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts.
Administration of a high-galactose (40% w/w) diet to lactating homozygous GalT gene-trapped females led to lethality in over 70% of the homozygous GalT gene-trapped pups before weaning.
Title: Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.
Data show that PRL signals through the short form of PRL receptor RL, and causes, iin the absence of RL, a severe ovarian pathology by repressing the expression of FOXO3 and that of its target gene Galt.
Title: Prolactin signaling through the short form of its receptor represses forkhead transcription factor FOXO3 and its target gene galt causing a severe ovarian defect.
Effects of GALT deficiency and dietary galactose on UDP-glucose pyrophosphorylase and UDP-galactose pyrophosphorylase activity and uridine diphosphate glucose expression in liver of mice with homozygous deletion of the critical regions of galt.
Title: UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
The finding is consistent with the function of UDP galactose pyrophosphorylase as an alternate pathway of galactose metabolism.
Title: Evidence for function of UDP galactose pyrophosphorylase in mice with absent galactose-1-phosphate uridyltransferase.

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Variation

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Alleles

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

Endonuclease-mediated (4)
Gene trapped (1)
Targeted (1) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables UDP-glucose:hexose-1-phosphate uridylyltransferase activity	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in UDP-alpha-D-glucose catabolic process	ISO Inferred from Sequence Orthology more info
involved_in UDP-alpha-D-glucose metabolic process	ISO Inferred from Sequence Orthology more info
involved_in UDP-alpha-D-glucose metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in galactose catabolic process via UDP-galactose	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within galactose catabolic process via UDP-galactose	IC Inferred by Curator more info	PubMed
involved_in galactose catabolic process via UDP-galactose	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within galactose metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in galactose metabolic process	ISO Inferred from Sequence Orthology more info
involved_in galactose metabolic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within glycolytic process from galactose	IC Inferred by Curator more info	PubMed
acts_upstream_of_or_within glycolytic process from galactose	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: galactose-1-phosphate uridylyltransferase

Names: UDP-glucose--hexose-1-phosphate uridylyltransferase; gal-1-P uridylyltransferase

NP_001289440.1

EC 2.7.7.12

NP_001356064.1

EC 2.7.7.12

NP_001356069.1

EC 2.7.7.12

NP_001356070.1

EC 2.7.7.12

NP_001356071.1

EC 2.7.7.12

NP_001356072.1

EC 2.7.7.12

NP_001356073.1

EC 2.7.7.12

NP_001356076.1

EC 2.7.7.12

NP_057867.2

EC 2.7.7.12

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_001302511.2 → NP_001289440.1 galactose-1-phosphate uridylyltransferase isoform 2

See identical proteins and their annotated locations for NP_001289440.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate exon structure at the 5' end and utilizes a downstream start codon compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1. Variants 2, 7, 8, and 9 all encode the same isoform (2).

Source sequence(s)

AL807796

UniProtKB/TrEMBL

Q3TQJ2

Related

ENSMUSP00000159492.1, ENSMUST00000130698.8

Conserved Domains (1) summary

PRK11720
Location:1 → 190

PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
NM_001369135.1 → NP_001356064.1 galactose-1-phosphate uridylyltransferase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longest isoform (3).

Source sequence(s)

AL807796

UniProtKB/TrEMBL

A2AMS2

Conserved Domains (1) summary

PRK11720
Location:19 → 357

PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
NM_001369140.1 → NP_001356069.1 galactose-1-phosphate uridylyltransferase isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4), as well as variants 5 and 6, encodes isoform 4.

Source sequence(s)

AL807796

UniProtKB/TrEMBL

A0A8V5L0N9

Related

ENSMUSP00000159493.1, ENSMUST00000154275.8

Conserved Domains (1) summary

PRK11720
Location:2 → 238

PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
NM_001369141.1 → NP_001356070.1 galactose-1-phosphate uridylyltransferase isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (5), as well as variants 4 and 6, encodes isoform 4.

Source sequence(s)

AL807796

UniProtKB/TrEMBL

A0A8V5L0N9

Conserved Domains (1) summary

PRK11720
Location:2 → 238

PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
NM_001369142.1 → NP_001356071.1 galactose-1-phosphate uridylyltransferase isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (6), as well as variants 4 and 5, encodes isoform 4.

Source sequence(s)

AL807796

UniProtKB/TrEMBL

A0A8V5L0N9

Conserved Domains (1) summary

PRK11720
Location:2 → 238

PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
NM_001369143.1 → NP_001356072.1 galactose-1-phosphate uridylyltransferase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (7), as well as variants 2, 8, and 9, encodes isoform 2.

Source sequence(s)

AL807796

UniProtKB/TrEMBL

Q3TQJ2

Conserved Domains (1) summary

PRK11720
Location:1 → 190

PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
NM_001369144.1 → NP_001356073.1 galactose-1-phosphate uridylyltransferase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variants 2, 7, and 9, encodes isoform 2.

Source sequence(s)

AL807796

UniProtKB/TrEMBL

Q3TQJ2

Conserved Domains (1) summary

PRK11720
Location:1 → 190

PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
NM_001369147.1 → NP_001356076.1 galactose-1-phosphate uridylyltransferase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (9), as well as variants 2, 7, and 8, encodes isoform 2.

Source sequence(s)

AL807796

UniProtKB/TrEMBL

Q3TQJ2

Conserved Domains (1) summary

PRK11720
Location:1 → 190

PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
NM_001395630.1 → NP_001382559.1 galactose-1-phosphate uridylyltransferase isoform 5

Status: REVIEWED

Source sequence(s)

AL807796, BC010985

UniProtKB/Swiss-Prot

Q03249, Q91VQ7

UniProtKB/TrEMBL

A2AMS2

Conserved Domains (1) summary

PRK11720
Location:22 → 366

PRK11720; UDP-glucose--hexose-1-phosphate uridylyltransferase
NM_016658.4 → NP_057867.2 galactose-1-phosphate uridylyltransferase isoform 1

See identical proteins and their annotated locations for NP_057867.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AL807796

Consensus CDS

CCDS38720.1

UniProtKB/TrEMBL

A2AMS2, A2AMS3

Related

ENSMUSP00000081745.7, ENSMUST00000084695.12

Conserved Domains (2) summary

PRK11720
Location:3 → 347

PRK11720; galactose-1-phosphate uridylyltransferase; Provisional

cd00608
Location:12 → 342

GalT; Galactose-1-phosphate uridyl transferase (GalT): This enzyme plays a key role in galactose metabolism by catalysing the transfer of a uridine 5'-phosphoryl group from UDP-galactose 1-phosphate. The structure of E.coli GalT reveals that the enzyme ...