MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP001153

Record overview

MGPD IDMGP001153
Gene ID2592
SpeciesHomo sapiens (Human)
Gene Namegalactose-1-phosphate uridylyltransferase
Gene Symbol GALT
Alternate namesgalactose-1-phosphate uridylyltransferase; UDP-glucose--hexose-1-phosphate uridylyltransferase; gal-1-P uridylyltransferase; galactose-1-phosphate uridyl transferase;
Chromosome9
Map Location9p13
EC Number2.7.7.12
SummaryGalactose-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]
OrthologsView orthologs and multiple alignments for GALT

Proteins

galactose-1-phosphate uridylyltransferase isoform 1
Refseq ID:NP_000146
Protein GI:22165416
UniProt ID:P07902
mRNA ID:NM_000155
Length:379
RefSeq Status:
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIRANGEVNPQYDSTFLFDNDFP
ALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQ
REERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGW
HGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA
 
galactose-1-phosphate uridylyltransferase isoform 2
Refseq ID:NP_001245261
Protein GI:385251404
UniProt ID:P07902
mRNA ID:NM_001258332
Length:270
RefSeq Status:
MTLSTLCVLGPSEPTESKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAY
KSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTPAERDDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEA
GANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA
 
  logo