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GALC (galactosylceramidase)

Identity

Other names-
HGNC (Hugo) GALC
LocusID (NCBI) 2581
Atlas_Id 46350
Location 14q31.3  [Link to chromosome band 14q31]
Location_base_pair Starts at 88399358 and ends at 88459615 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GSN (9q33.2) / GALC (14q31.3)RAPGEF6 (5q31.1) / GALC (14q31.3)WDR74 (11q12.3) / GALC (14q31.3)

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)GALC   4115
Cards
Entrez_Gene (NCBI)GALC  2581  galactosylceramidase
Aliases
GeneCards (Weizmann)GALC
Ensembl hg19 (Hinxton)ENSG00000054983 [Gene_View]  chr14:88399358-88459615 [Contig_View]  GALC [Vega]
Ensembl hg38 (Hinxton)ENSG00000054983 [Gene_View]  chr14:88399358-88459615 [Contig_View]  GALC [Vega]
ICGC DataPortalENSG00000054983
TCGA cBioPortalGALC
AceView (NCBI)GALC
Genatlas (Paris)GALC
WikiGenes2581
SOURCE (Princeton)GALC
Genomic and cartography
GoldenPath hg19 (UCSC)GALC  -     chr14:88399358-88459615 -  14q31.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GALC  -     14q31.3   [Description]    (hg38-Dec_2013)
EnsemblGALC - 14q31.3 [CytoView hg19]  GALC - 14q31.3 [CytoView hg38]
Mapping of homologs : NCBIGALC [Mapview hg19]  GALC [Mapview hg38]
OMIM245200   606890   
Gene and transcription
Genbank (Entrez)AI025909 AK294040 AK296530 AK302519 AK302683
RefSeq transcript (Entrez)NM_000153 NM_001037525 NM_001201401 NM_001201402
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_011853 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)GALC
Cluster EST : UnigeneHs.513439 [ NCBI ]
CGAP (NCI)Hs.513439
Alternative Splicing GalleryENSG00000054983
Gene ExpressionGALC [ NCBI-GEO ]   GALC [ EBI - ARRAY_EXPRESS ]   GALC [ SEEK ]   GALC [ MEM ]
Gene Expression Viewer (FireBrowse)GALC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2581
GTEX Portal (Tissue expression)GALC
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54803 (Uniprot)
NextProtP54803  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54803
Splice isoforms : SwissVarP54803 (Swissvar)
Catalytic activity : Enzyme3.2.1.46 [ Enzyme-Expasy ]   3.2.1.463.2.1.46 [ IntEnz-EBI ]   3.2.1.46 [ BRENDA ]   3.2.1.46 [ KEGG ]   
PhosPhoSitePlusP54803
Domains : Interpro (EBI)Glyco_hydro_59    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF   
Domain families : Pfam (Sanger)Glyco_hydro_59 (PF02057)   
Domain families : Pfam (NCBI)pfam02057   
DMDM Disease mutations2581
Blocks (Seattle)GALC
SuperfamilyP54803
Human Protein AtlasENSG00000054983
Peptide AtlasP54803
HPRD06057
IPIIPI00872350   IPI00929364   IPI00929592   IPI00929718   IPI01014649   IPI01025676   IPI01025792   IPI01026008   IPI01026117   IPI01026104   IPI00220546   IPI01018652   
Protein Interaction databases
DIP (DOE-UCLA)P54803
IntAct (EBI)P54803
FunCoupENSG00000054983
BioGRIDGALC
STRING (EMBL)GALC
ZODIACGALC
Ontologies - Pathways
QuickGOP54803
Ontology : AmiGOgalactosylceramidase activity  galactosylceramidase activity  lysosome  carbohydrate metabolic process  galactosylceramide catabolic process  glycosphingolipid metabolic process  lysosomal lumen  extracellular exosome  
Ontology : EGO-EBIgalactosylceramidase activity  galactosylceramidase activity  lysosome  carbohydrate metabolic process  galactosylceramide catabolic process  glycosphingolipid metabolic process  lysosomal lumen  extracellular exosome  
Pathways : KEGGSphingolipid metabolism    Lysosome   
NDEx NetworkGALC
Atlas of Cancer Signalling NetworkGALC
Wikipedia pathwaysGALC
Orthology - Evolution
OrthoDB2581
GeneTree (enSembl)ENSG00000054983
Phylogenetic Trees/Animal Genes : TreeFamGALC
Homologs : HomoloGeneGALC
Homology/Alignments : Family Browser (UCSC)GALC
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGALC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GALC
dbVarGALC
ClinVarGALC
1000_GenomesGALC 
Exome Variant ServerGALC
ExAC (Exome Aggregation Consortium)GALC (select the gene name)
Genetic variants : HAPMAP2581
Genomic Variants (DGV)GALC [DGVbeta]
Mutations
ICGC Data PortalGALC 
TCGA Data PortalGALC 
Broad Tumor PortalGALC
OASIS PortalGALC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGALC 
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GALC
DgiDB (Drug Gene Interaction Database)GALC
DoCM (Curated mutations)GALC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GALC (select a term)
intoGenGALC
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:88399358-88459615  ENSG00000054983
CONAN: Copy Number AnalysisGALC 
Mutations and Diseases : HGMDGALC
OMIM245200    606890   
MedgenGALC
Genetic Testing Registry GALC
NextProtP54803 [Medical]
TSGene2581
GENETestsGALC
Huge Navigator GALC [HugePedia]
snp3D : Map Gene to Disease2581
BioCentury BCIQGALC
ClinGenGALC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2581
Chemical/Pharm GKB GenePA28530
Clinical trialGALC
Miscellaneous
canSAR (ICR)GALC (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGALC
EVEXGALC
GoPubMedGALC
iHOPGALC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:50:24 CEST 2016

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