Galactose-1-phosphate uridylyltransferase

GALT
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 5IN3
Identifiers
Aliases	GALT, entrez:2592, galactose-1-phosphate uridylyltransferase
External IDs	OMIM: 606999; MGI: 95638; HomoloGene: 126; GeneCards: GALT; OMA:GALT - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9p13.3 Start 34,638,133 bp[1] End 34,651,035 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 A5|4 22.07 cM Start 41,755,228 bp[2] End 41,758,695 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver right adrenal gland apex of heart right adrenal cortex left adrenal cortex right lobe of thyroid gland granulocyte right ovary anterior pituitary left lobe of thyroid gland Top expressed in superior frontal gyrus cerebellum cerebellar cortex renal cortex proximal tubule primary visual cortex striatum of neuraxis right kidney heart adrenal gland More reference expression data BioGPS n/a
Gene ontology Molecular function transferase activity nucleotidyltransferase activity protein binding metal ion binding UDP-glucose:hexose-1-phosphate uridylyltransferase activity zinc ion binding Cellular component cytosol Golgi apparatus cytoplasm Biological process UDP-glucose catabolic process galactose catabolic process galactose catabolic process via UDP-galactose UDP-glucose metabolic process galactose metabolic process carbohydrate metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2592 14430 Ensembl ENSG00000213930 ENSMUSG00000036073 UniProt P07902 Q03249 RefSeq (mRNA) NM_001258332 NM_000155 NM_147131 NM_147132 NM_016658 NM_001302511 RefSeq (protein) NP_000146 NP_001245261 NP_001289440 NP_057867 NP_001356064 NP_001356069 NP_001356070 NP_001356071 NP_001356072 NP_001356073 NP_001356076 NP_001382559 Location (UCSC) Chr 9: 34.64 – 34.65 Mb Chr 4: 41.76 – 41.76 Mb PubMed search [3] [4]
Wikidata
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Galactose-1-phosphate uridyl transferase, C-terminal domain
structure of nucleotidyltransferase complexed with udp-galactose
Identifiers
Symbol	GalP_UDP_tr_C
Pfam	PF02744
Pfam clan	CL0265
InterPro	IPR005850
PROSITE	PDOC00108
SCOP2	1hxp / SCOPe / SUPFAM
Available protein structures: Pfam   structures / ECOD   PDB RCSB PDB; PDBe; PDBj PDBsum structure summary

Galactose-1-phosphate uridyltransferase (or GALT, G1PUT) is an enzyme (EC 2.7.7.12) responsible for converting ingested galactose to glucose.^[5]

Galactose-1-phosphate uridyltransferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely:

UDP-glucose + galactose 1-phosphate ${\displaystyle \rightleftharpoons }$ glucose 1-phosphate + UDP-galactose

The expression of GALT is controlled by the actions of the FOXO3 gene. 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.^[5]

• 
  galactose
• 
  glucose