Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Gale. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of May 8, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Gale
  • participates in the following biological processes:
    • galactose metabolic process ^[1]
  • performs the following molecular functions:
    • UDP-glucose 4-epimerase activity ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Gale:
  • participates in the following biological processes:
    • galactose catabolic process
  • performs the following molecular functions:
    • protein homodimerization activity
    • UDP-glucose 4-epimerase activity

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Summary text based on GO annotations supported by structural data

• Gale encodes a protein or proteins that contain the following InterPro domains: NAD(P)-binding domain, NAD-dependent epimerase/dehydratase, Nucleotide sugar epimerase, UDP-glucose 4-epimerase, UDP-glucose 4-epimerase C-terminal domain, indicating that the gene product:
  • participates in the following biological processes:
    • carbohydrate metabolic process
    • cellular metabolic process
  • performs the following molecular functions:
    • catalytic activity
    • coenzyme binding
    • nucleotide binding
    • racemase and epimerase activity, acting on carbohydrates and derivatives

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Gale indicates that it:
  • participates in the following biological processes:
    • carbohydrate metabolic process
  • performs the following molecular functions:
    • isomerase activity
• Annotations directly to cellular component for the gene Gale indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.

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References

1. Yager C et al. (2004) Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase. Mol Genet Metab, 81:105-11. (PubMed:14741191)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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