======= GALE ======= == Gene Information == * **Official Symbol**: GALE * **Official Name**: UDP-galactose-4-epimerase * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=2582|2582]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q14376|Q14376]] * **Interactions**: [[https://thebiogrid.org/search.php?search=GALE&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20GALE|Open PubMed]] * **OMIM**: [[https://omim.org/entry/606953|Open OMIM]] == Function Summary == * **Entrez Summary**: This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]. * **UniProt Summary**: Catalyzes two distinct but analogous reactions: the reversible epimerization of UDP-glucose to UDP-galactose and the reversible epimerization of UDP-N-acetylglucosamine to UDP-N- acetylgalactosamine. The reaction with UDP-Gal plays a critical role in the Leloir pathway of galactose catabolism in which galactose is converted to the glycolytic intermediate glucose 6- phosphate. It contributes to the catabolism of dietary galactose and enables the endogenous biosynthesis of both UDP-Gal and UDP- GalNAc when exogenous sources are limited. Both UDP-sugar interconversions are important in the synthesis of glycoproteins and glycolipids. {ECO:0000269|PubMed:22654673, ECO:0000303|PubMed:23732289}. |KR| |Epimerase| |Polysacc synt 2| |NAD binding 4| |RmlD sub bind| |adh short| |3Beta HSD| |UDP-glucose 4-epimerase activity| |UDP-N-acetylglucosamine 4-epimerase activity| |galactose catabolic process via UDP-galactose| |galactose catabolic process| |galactose metabolic process| |hexose catabolic process| |monosaccharide catabolic process| |carbohydrate catabolic process| |hexose metabolic process| |monosaccharide metabolic process| |small molecule catabolic process| |carbohydrate metabolic process| |protein homodimerization activity| |identical protein binding| |small molecule metabolic process| |organic substance catabolic process| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp506|Momordin-Ic 10μM R08 exp506]]|-2.46| |[[:results:exp452|Azithromycin 100μM R08 exp452]]|-1.94| |[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-1.87| |[[:results:exp191|Hypoxia 5%O2 R04 exp191]]|1.74| |[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|1.87| |[[:results:exp122|Golgicide-A 4μM R03 exp122]]|1.98| |[[:results:exp420|Tunicamycin 0.04 to 0.125μM on day4 R07 exp420]]|2.5| |[[:results:exp419|Tunicamycin 0.04 to 0.075μM on day4 R07 exp419]]|3.17| |[[:results:exp418|Tunicamycin 0.04μM R07 exp418]]|3.18| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 1/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|0/75| |lymphocyte|1/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 3910 * **Expression level (log2 read counts)**: 4.15 {{:chemogenomics:nalm6 dist.png?nolink |}}