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Description for Protein GALT

galactose-1-phosphate uridylyltransferase
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
2.7.7.12
KEGG - Orthology:
K00965
KEGG - Pathway(s):
hsa00052; hsa00520; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
EC 2.7.7.12; Galactose-1-phosphate uridylyltransferase isoform 1; Gal 1 P uridylyltransferase; UDP glucose hexose 1 phosphate uridylyltransferase
Approved Symbol:
GALT
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 0
No human (de-) phosphorylation sites; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

None Available

Associated Genetic Diseases:

  • Duarte variant(Pd);
  • Galactosemia(Pd);
  • GALT polymorphism(Pd);
  • Los Angeles variant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 06106 Entrez Gene ID: 2592 OMIM ID: 606999 Swissprot Accession: P07902;