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GALK1 (galactokinase 1)

Identity

Alias_namesGALK
Other aliasGK1
HEL-S-19
HGNC (Hugo) GALK1
LocusID (NCBI) 2584
Atlas_Id 63679
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 75757937 and ends at 75765199 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SEC14L1 (17q25.2) / GALK1 (17q25.1)

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)GALK1   4118
Cards
Entrez_Gene (NCBI)GALK1  2584  galactokinase 1
AliasesGALK; GK1; HEL-S-19
GeneCards (Weizmann)GALK1
Ensembl hg19 (Hinxton)ENSG00000108479 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108479 [Gene_View]  chr17:75757937-75765199 [Contig_View]  GALK1 [Vega]
ICGC DataPortalENSG00000108479
TCGA cBioPortalGALK1
AceView (NCBI)GALK1
Genatlas (Paris)GALK1
WikiGenes2584
SOURCE (Princeton)GALK1
Genetics Home Reference (NIH)GALK1
Genomic and cartography
GoldenPath hg38 (UCSC)GALK1  -     chr17:75757937-75765199 -  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GALK1  -     17q25.1   [Description]    (hg19-Feb_2009)
EnsemblGALK1 - 17q25.1 [CytoView hg19]  GALK1 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBIGALK1 [Mapview hg19]  GALK1 [Mapview hg38]
OMIM230200   604313   
Gene and transcription
Genbank (Entrez)AK130064 AK303748 AK303832 AK310203 AK314890
RefSeq transcript (Entrez)NM_000154
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GALK1
Cluster EST : UnigeneHs.407966 [ NCBI ]
CGAP (NCI)Hs.407966
Alternative Splicing GalleryENSG00000108479
Gene ExpressionGALK1 [ NCBI-GEO ]   GALK1 [ EBI - ARRAY_EXPRESS ]   GALK1 [ SEEK ]   GALK1 [ MEM ]
Gene Expression Viewer (FireBrowse)GALK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2584
GTEX Portal (Tissue expression)GALK1
Human Protein AtlasENSG00000108479-GALK1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51570   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51570  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51570
Splice isoforms : SwissVarP51570
Catalytic activity : Enzyme2.7.1.6 [ Enzyme-Expasy ]   2.7.1.62.7.1.6 [ IntEnz-EBI ]   2.7.1.6 [ BRENDA ]   2.7.1.6 [ KEGG ]   
PhosPhoSitePlusP51570
Domaine pattern : Prosite (Expaxy)GALACTOKINASE (PS00106)    GHMP_KINASES_ATP (PS00627)   
Domains : Interpro (EBI)Galactokinase    Galactokinase_CS    GalKase_gal-bd    GHMP_kinase_C_dom    GHMP_kinase_N_dom    GHMP_knse_ATP-bd_CS    Mevalonate/galactokinase    Ribosomal_S5_D2-typ_fold    Ribosomal_S5_D2-typ_fold_subgr   
Domain families : Pfam (Sanger)GalKase_gal_bdg (PF10509)    GHMP_kinases_C (PF08544)    GHMP_kinases_N (PF00288)   
Domain families : Pfam (NCBI)pfam10509    pfam08544    pfam00288   
Conserved Domain (NCBI)GALK1
DMDM Disease mutations2584
Blocks (Seattle)GALK1
PDB (SRS)1WUU    1YH7   
PDB (PDBSum)1WUU    1YH7   
PDB (IMB)1WUU    1YH7   
PDB (RSDB)1WUU    1YH7   
Structural Biology KnowledgeBase1WUU    1YH7   
SCOP (Structural Classification of Proteins)1WUU    1YH7   
CATH (Classification of proteins structures)1WUU    1YH7   
SuperfamilyP51570
Human Protein Atlas [tissue]ENSG00000108479-GALK1 [tissue]
Peptide AtlasP51570
HPRD05057
IPIIPI00940264   IPI00747722   IPI00019383   IPI00956413   
Protein Interaction databases
DIP (DOE-UCLA)P51570
IntAct (EBI)P51570
FunCoupENSG00000108479
BioGRIDGALK1
STRING (EMBL)GALK1
ZODIACGALK1
Ontologies - Pathways
QuickGOP51570
Ontology : AmiGOgalactokinase activity  galactokinase activity  ATP binding  galactose binding  cytoplasm  cytosol  galactose metabolic process  membrane  membrane  galactose catabolic process  galactitol metabolic process  carbohydrate phosphorylation  glycolytic process from galactose  extracellular exosome  
Ontology : EGO-EBIgalactokinase activity  galactokinase activity  ATP binding  galactose binding  cytoplasm  cytosol  galactose metabolic process  membrane  membrane  galactose catabolic process  galactitol metabolic process  carbohydrate phosphorylation  glycolytic process from galactose  extracellular exosome  
Pathways : BIOCARTALeloir pathway of galactose metabolism [Genes]   
Pathways : KEGGGalactose metabolism    Amino sugar and nucleotide sugar metabolism   
NDEx NetworkGALK1
Atlas of Cancer Signalling NetworkGALK1
Wikipedia pathwaysGALK1
Orthology - Evolution
OrthoDB2584
GeneTree (enSembl)ENSG00000108479
Phylogenetic Trees/Animal Genes : TreeFamGALK1
HOVERGENP51570
HOGENOMP51570
Homologs : HomoloGeneGALK1
Homology/Alignments : Family Browser (UCSC)GALK1
Gene fusions - Rearrangements
Fusion: Tumor Portal GALK1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGALK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GALK1
dbVarGALK1
ClinVarGALK1
1000_GenomesGALK1 
Exome Variant ServerGALK1
ExAC (Exome Aggregation Consortium)ENSG00000108479
GNOMAD BrowserENSG00000108479
Genetic variants : HAPMAP2584
Genomic Variants (DGV)GALK1 [DGVbeta]
DECIPHERGALK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGALK1 
Mutations
ICGC Data PortalGALK1 
TCGA Data PortalGALK1 
Broad Tumor PortalGALK1
OASIS PortalGALK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGALK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGALK1
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
BioMutasearch GALK1
DgiDB (Drug Gene Interaction Database)GALK1
DoCM (Curated mutations)GALK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GALK1 (select a term)
intoGenGALK1
Cancer3DGALK1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM230200    604313   
Orphanet11263   
MedgenGALK1
Genetic Testing Registry GALK1
NextProtP51570 [Medical]
TSGene2584
GENETestsGALK1
Target ValidationGALK1
Huge Navigator GALK1 [HugePedia]
snp3D : Map Gene to Disease2584
BioCentury BCIQGALK1
ClinGenGALK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2584
Chemical/Pharm GKB GenePA28533
Clinical trialGALK1
Miscellaneous
canSAR (ICR)GALK1 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGALK1
EVEXGALK1
GoPubMedGALK1
iHOPGALK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:48:39 CET 2017

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