Homo sapiens Gene: GALK1
Summary
InnateDB Gene IDBG-68888.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GALK1
Gene Name galactokinase 1
Synonyms GALK; GK1; HEL-S-19;
Species Homo sapiens
Ensembl Gene ENSG00000108479
Encoded Proteins
galactokinase 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:75751594-75765711
Strand Reverse strand
Band q25.1
Transcripts
ENST00000225614 ENSP00000225614
ENST00000586244 ENSP00000468288
ENST00000592997 ENSP00000464765
ENST00000587707 ENSP00000468341
ENST00000589030
ENST00000592494
ENST00000588479 ENSP00000465930
ENST00000586733
ENST00000589643
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 15 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004335 galactokinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005534 galactose binding
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006012 galactose metabolic process
GO:0019388 galactose catabolic process
GO:0019402 galactitol metabolic process
GO:0044281 small molecule metabolic process
GO:0046835 carbohydrate phosphorylation
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0070062 extracellular vesicular exosome
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 P51570
TrEMBL C8CHJ6 Q71UH7 V9HWE7
UniProt Splice Variant
Entrez Gene 2584
UniGene Hs.407966
RefSeq NM_000154
HUGO HGNC:4118
OMIM 604313
CCDS CCDS11728
HPRD 05057
IMGT
EMBL AC087749 AF084935 AK303832 AK314890 BC001166 BT007005 CH471099 EU794610 GQ403673 L76927 U26401
GenPept AAA96147 AAB51607 AAC35849 AAH01166 AAP35651 ACJ13664 ACU65386 BAG37404 BAG64778 EAW89316
RNA Seq Atlas 2584