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GALE (UDP-galactose-4-epimerase)

Identity

Other namesSDR1E1
HGNC (Hugo) GALE
LocusID (NCBI) 2582
Atlas_Id 40683
Location 1p36.11
Location_base_pair Starts at 24122089 and ends at 24127034 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)GALE   4116
Cards
Entrez_Gene (NCBI)GALE  2582  UDP-galactose-4-epimerase
GeneCards (Weizmann)GALE
Ensembl hg19 (Hinxton)ENSG00000117308 [Gene_View]  chr1:24122089-24127034 [Contig_View]  GALE [Vega]
Ensembl hg38 (Hinxton)ENSG00000117308 [Gene_View]  chr1:24122089-24127034 [Contig_View]  GALE [Vega]
ICGC DataPortalENSG00000117308
TCGA cBioPortalGALE
AceView (NCBI)GALE
Genatlas (Paris)GALE
WikiGenes2582
SOURCE (Princeton)GALE
Genomic and cartography
GoldenPath hg19 (UCSC)GALE  -     chr1:24122089-24127034 -  1p36.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GALE  -     1p36.11   [Description]    (hg38-Dec_2013)
EnsemblGALE - 1p36.11 [CytoView hg19]  GALE - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBIGALE [Mapview hg19]  GALE [Mapview hg38]
OMIM230350   606953   
Gene and transcription
Genbank (Entrez)AK057302 AK096127 AK307354 AK314397 AL530475
RefSeq transcript (Entrez)NM_000403 NM_001008216 NM_001127621
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_007068 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)GALE
Cluster EST : UnigeneHs.632380 [ NCBI ]
CGAP (NCI)Hs.632380
Alternative Splicing : Fast-db (Paris)GSHG0001855
Alternative Splicing GalleryENSG00000117308
Gene ExpressionGALE [ NCBI-GEO ]     GALE [ SEEK ]   GALE [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14376 (Uniprot)
NextProtQ14376  [Medical]
With graphics : InterProQ14376
Splice isoforms : SwissVarQ14376 (Swissvar)
Domains : Interpro (EBI)Epimerase_C    Epimerase_deHydtase_N    GalE    NAD(P)-bd_dom    Nuc_sugar_epim   
Related proteins : CluSTrQ14376
Domain families : Pfam (Sanger)Epimerase (PF01370)    Epimerase_Csub (PF13950)   
Domain families : Pfam (NCBI)pfam01370    pfam13950   
DMDM Disease mutations2582
Blocks (Seattle)Q14376
PDB (SRS)1EK5    1EK6    1HZJ    1I3K    1I3L    1I3M    1I3N   
PDB (PDBSum)1EK5    1EK6    1HZJ    1I3K    1I3L    1I3M    1I3N   
PDB (IMB)1EK5    1EK6    1HZJ    1I3K    1I3L    1I3M    1I3N   
PDB (RSDB)1EK5    1EK6    1HZJ    1I3K    1I3L    1I3M    1I3N   
Human Protein AtlasENSG00000117308
Peptide AtlasQ14376
HPRD06092
IPIIPI00553131   IPI00030229   IPI00644364   IPI00644339   IPI00641123   IPI00515014   
Protein Interaction databases
DIP (DOE-UCLA)Q14376
IntAct (EBI)Q14376
FunCoupENSG00000117308
BioGRIDGALE
IntegromeDBGALE
STRING (EMBL)GALE
Ontologies - Pathways
QuickGOQ14376
Ontology : AmiGOUDP-N-acetylglucosamine 4-epimerase activity  UDP-glucose 4-epimerase activity  UDP-glucose 4-epimerase activity  cytosol  carbohydrate metabolic process  pathogenesis  galactose catabolic process  galactose catabolic process  protein homodimerization activity  small molecule metabolic process  coenzyme binding  extracellular exosome  
Ontology : EGO-EBIUDP-N-acetylglucosamine 4-epimerase activity  UDP-glucose 4-epimerase activity  UDP-glucose 4-epimerase activity  cytosol  carbohydrate metabolic process  pathogenesis  galactose catabolic process  galactose catabolic process  protein homodimerization activity  small molecule metabolic process  coenzyme binding  extracellular exosome  
Pathways : BIOCARTALeloir pathway of galactose metabolism [Genes]   
Pathways : KEGGGalactose metabolism    Amino sugar and nucleotide sugar metabolism   
Protein Interaction DatabaseGALE
DoCM (Curated mutations)GALE
Wikipedia pathwaysGALE
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerGALE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GALE
dbVarGALE
ClinVarGALE
1000_GenomesGALE 
Exome Variant ServerGALE
SNP (GeneSNP Utah)GALE
SNP : HGBaseGALE
Genetic variants : HAPMAPGALE
Genomic Variants (DGV)GALE [DGVbeta]
Mutations
ICGC Data PortalGALE 
TCGA Data PortalGALE 
Tumor PortalGALE
Somatic Mutations in Cancer : COSMICGALE 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)1:24122089-24127034
CONAN: Copy Number AnalysisGALE 
Mutations and Diseases : HGMDGALE
OMIM230350    606953   
MedgenGALE
NextProtQ14376 [Medical]
GENETestsGALE
Disease Genetic AssociationGALE
Huge Navigator GALE [HugePedia]  GALE [HugeCancerGEM]
snp3D : Map Gene to Disease2582
DGIdb (Drug Gene Interaction db)GALE
General knowledge
Homologs : HomoloGeneGALE
Homology/Alignments : Family Browser (UCSC)GALE
Phylogenetic Trees/Animal Genes : TreeFamGALE
Chemical/Protein Interactions : CTD2582
Chemical/Pharm GKB GenePA28531
Clinical trialGALE
Cancer Resource (Charite)ENSG00000117308
Other databases
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
CoreMineGALE
GoPubMedGALE
iHOPGALE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 19:19:21 CEST 2015

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