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

GO curators for mouse genes have assigned the following annotations to the gene product of Galt. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

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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 Galt
  • participates in the following biological processes:
    • metabolic process ^{[1, 2]}
  • performs the following molecular functions:
    • UDP-glucose:hexose-1-phosphate uridylyltransferase activity ^{[1, 2]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Galt
  • participates in the following biological processes:
    • galactose metabolic process ^[2]

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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 Galt:
  • participates in the following biological processes:
    • galactose metabolic process
    • UDP-glucose catabolic process
  • performs the following molecular functions:
    • UDP-glucose:hexose-1-phosphate uridylyltransferase activity
  • is located in the following cellular components:
    • Golgi apparatus

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Summary text based on GO annotations supported by structural data

• Galt encodes a protein or proteins that contain the following InterPro domains: Galactose-1-phosphate uridyl transferase, C-terminal, Galactose-1-phosphate uridyl transferase, class I, Galactose-1-phosphate uridyl transferase, class I His-active site, Galactose-1-phosphate uridyl transferase, N-terminal, HIT-like domain, indicating that the gene product:
  • performs the following molecular functions:
    • catalytic activity
    • zinc ion binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Galt indicates that it:
  • participates in the following biological processes:
    • carbohydrate metabolic process
  • performs the following molecular functions:
    • metal ion binding
    • nucleotidyltransferase activity
    • transferase activity

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References

1. Stallings RL et al. (1981) Confirmational, provisional, and/or regional assignment of 15 enzyme loci onto Chinese hamster autosomes 1, 2, and 7. Somatic Cell Genet, 7:683-98. (PubMed:7323947)
2. 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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