Homo sapiens Gene: GALT
Summary
InnateDB Gene IDBG-236559.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GALT
Gene Name galactose-1-phosphate uridylyltransferase
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000213930
Encoded Proteins
galactose-1-phosphate uridylyltransferase
galactose-1-phosphate uridylyltransferase
galactose-1-phosphate uridylyltransferase
galactose-1-phosphate uridylyltransferase
galactose-1-phosphate uridylyltransferase
galactose-1-phosphate uridylyltransferase
galactose-1-phosphate uridylyltransferase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:34638133-34651035
Strand Forward strand
Band p13.3
Transcripts
ENST00000378842 ENSP00000368119
ENST00000450095 ENSP00000401956
ENST00000465543
ENST00000473506 ENSP00000432839
ENST00000473529
ENST00000472111
ENST00000489643
ENST00000487381
ENST00000468099
ENST00000485531
ENST00000488412
ENST00000554550 ENSP00000451435
ENST00000557541
ENST00000554139
ENST00000554897 ENSP00000450942
ENST00000554944
ENST00000555020
ENST00000554085 ENSP00000450419
ENST00000554638
ENST00000555214
ENST00000556403
ENST00000555086
ENST00000554330
ENST00000556494
ENST00000557706
ENST00000556157
ENST00000556244 ENSP00000451756
ENST00000555754
ENST00000605275
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0008108 UDP-glucose:hexose-1-phosphate uridylyltransferase activity
GO:0008270 zinc ion binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006012 galactose metabolic process
GO:0006258 UDP-glucose catabolic process
GO:0019388 galactose catabolic process
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005794 Golgi apparatus
GO:0005829 cytosol
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Myoclonic epilepsy of Lafora pathway
Metabolism of carbohydrates pathway
Galactose catabolism pathway
Metabolism pathway
Disease pathway
Glycogen storage diseases pathway
KEGG
Galactose metabolism pathway
Amino sugar and nucleotide sugar metabolism pathway
INOH
Galactose metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 2592
UniGene Hs.522090 Hs.678181 Hs.704103 Hs.714098
RefSeq NM_000155 NM_001258332
HUGO HGNC:4135
OMIM 606999
CCDS CCDS59122 CCDS6565
HPRD 06106
IMGT
EMBL
GenPept
RNA Seq Atlas 2592