Homo sapiens Gene: GALT
Summary
InnateDB Gene IDBG-236559.5
Last Modified 2012-02-14 [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
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 9:34638130-34651032
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
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein-Protein 4 [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
Galactose catabolism pathway
KEGG
Metabolic pathways pathway
Galactose metabolism pathway
Amino sugar and nucleotide sugar metabolism pathway
INOH
Galactose metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt P07902
TrEMBL D0EM86 D1MBF6 D3DRM8 E7ET32 F2Z2X9 G3V223 G3V3U5 P78433
UniProt Splice Variant
Entrez Gene 2592
UniGene Hs.522090 Hs.678181 Hs.704103 Hs.714098
RefSeq NM_000155 NM_001258332
HUGO 4135
OMIM 606999
CCDS CCDS6565
HPRD 06106
IMGT
EMBL AL162231 AL450283 BC015045 BT009852 CH471071 GQ403669 GQ857129 GU129565 L46359 L46360 L46361 L46362 L46363 L46364 L46365 L46691 L46692 L46693 L46694 L46698 L46699 L46703 L46704 L46705 L46706 L46707 L46708 L46709 L46710 L46711 L46712 L46713 L46714 L46715 L46716 L46717 L48930 M60091 M96264
GenPept AAA74450 AAA81544 AAA81545 AAA81546 AAA81547 AAB59578 AAB59584 AAB59585 AAB59586 AAB59587 AAB59588 AAB59589 AAB59590 AAB59591 AAB59592 AAB59593 AAB59594 AAB59595 AAB59596 AAB59597 AAB59598 AAB59599 AAB59600 AAB59601 AAB59603 AAB59604 AAB59605 AAB59606 AAB59607 AAB59608 AAC83409 AAH15045 AAP88854 ACU65382 ACW83018 ACY72209 CAH69856 EAW58427 EAW58428 EAW58429
ImmGen GALT (murine)
RNA Seq Atlas 2592