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MGP001153

UniProt Annotations

Entry Information

Gene Name	galactose-1-phosphate uridylyltransferase
Protein Entry	GALT_HUMAN
UniProt ID	P07902
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P07902-1; Sequence=Displayed; Name=2; IsoId=P07902-2; Sequence=VSP_045604, VSP_045605; Note=No experimental confirmation available.;
Biophysicochemical Properties	Kinetic parameters: KM=1.25 mM for alpha-D-galactose 1-phosphate (at pH 8.7) {ECO:0000269\|PubMed:22461411}; KM=0.43 mM for UDP-glucose (at pH 8.7) {ECO:0000269\|PubMed:22461411}; Vmax=48 umol/min/mg enzyme {ECO:0000269\|PubMed:22461411};
Catalytic Activity	UDP-alpha-D-glucose + alpha-D-galactose 1- phosphate = alpha-D-glucose 1-phosphate + UDP-alpha-D-galactose.
Cofactor	Name=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000305}; Note=Binds 1 Fe cation per subunit. {ECO:0000305};
Cofactor	Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000305}; Note=Binds 1 zinc ion per subunit. {ECO:0000305};
Disease	Galactosemia (GALCT) [MIM:230400]: Inherited disorder of galactose metabolism that causes jaundice, cataracts, and mental retardation. {ECO:0000269\|PubMed:10220154, ECO:0000269\|PubMed:11754113, ECO:0000269\|PubMed:11919338, ECO:0000269\|PubMed:1373122, ECO:0000269\|PubMed:1427861, ECO:0000269\|PubMed:15841485, ECO:0000269\|PubMed:1610789, ECO:0000269\|PubMed:17041746, ECO:0000269\|PubMed:17876724, ECO:0000269\|PubMed:18956253, ECO:0000269\|PubMed:1897530, ECO:0000269\|PubMed:2011574, ECO:0000269\|PubMed:22461411, ECO:0000269\|PubMed:23022339, ECO:0000269\|PubMed:7550229, ECO:0000269\|PubMed:7887416, ECO:0000269\|PubMed:7887417, ECO:0000269\|PubMed:8499924, ECO:0000269\|PubMed:8598637, ECO:0000269\|PubMed:8741038, ECO:0000269\|PubMed:8869397, ECO:0000269\|PubMed:8956044, ECO:0000269\|PubMed:9222760}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Pathway	Carbohydrate metabolism; galactose metabolism.
Similarity	Belongs to the galactose-1-phosphate uridylyltransferase type 1 family. {ECO:0000305}.
Subunit	Homodimer. {ECO:0000305}.
Web Resource	Name=Galactose-1-Phosphate Uridyl Transferase (GALT); Note=Galactosemia mutation database; URL="http://arup.utah.edu/database/GALT/GALT_welcome.php";