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

Gene ID: 14430, updated on 24-Jan-2023

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
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Genomic context

See Galt in Genome Data Viewer
Location:
4 A5; 4 22.07 cM
Exon count:
11
Annotation release Status Assembly Chr Location
109 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_000070.7Genomic Context describing neighboring genes Neighboring gene AT rich interactive domain 3C (BRIGHT-like) Neighboring gene sigma non-opioid intracellular receptor 1 Neighboring gene predicted gene, 42274 Neighboring gene interleukin 11 receptor, alpha chain 1 Neighboring gene family with sequence similarity 205, member A4 Neighboring gene chemokine (C-C motif) ligand 27A Neighboring gene predicted gene 12407

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (1)  1 citation
  • Endonuclease-mediated (3) 

Pathways from PubChem

General gene information

Markers

Homology

Gene Ontology Provided by MGI

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
PubMed 

General protein information

Preferred Names
galactose-1-phosphate uridylyltransferase
Names
UDP-glucose--hexose-1-phosphate uridylyltransferase
gal-1-P uridylyltransferase
NP_001289440.1
NP_001356064.1
NP_001356069.1
NP_001356070.1
NP_001356071.1
NP_001356072.1
NP_001356073.1
NP_001356076.1
NP_057867.2

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)

  1. NM_001302511.2NP_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:1190
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
  2. NM_001369135.1NP_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
    Conserved Domains (1) summary
    PRK11720
    Location:19357
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
  3. NM_001369140.1NP_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
    Related
    ENSMUSP00000159493.1, ENSMUST00000154275.8
    Conserved Domains (1) summary
    PRK11720
    Location:2238
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
  4. NM_001369141.1NP_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
    Conserved Domains (1) summary
    PRK11720
    Location:2238
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
  5. NM_001369142.1NP_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
    Conserved Domains (1) summary
    PRK11720
    Location:2238
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
  6. NM_001369143.1NP_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:1190
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
  7. NM_001369144.1NP_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:1190
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
  8. NM_001369147.1NP_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:1190
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
  9. NM_001395630.1NP_001382559.1  galactose-1-phosphate uridylyltransferase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL807796, BC010985
    UniProtKB/Swiss-Prot
    Q91VQ7
    Conserved Domains (1) summary
    PRK11720
    Location:22366
    PRK11720; UDP-glucose--hexose-1-phosphate uridylyltransferase
  10. NM_016658.4NP_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/Swiss-Prot
    Q03249
    UniProtKB/TrEMBL
    A2AMS3
    Related
    ENSMUSP00000081745.7, ENSMUST00000084695.12
    Conserved Domains (2) summary
    PRK11720
    Location:3347
    PRK11720; galactose-1-phosphate uridylyltransferase; Provisional
    cd00608
    Location:12342
    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 ...

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    41755517..41759243
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)