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GALC (galactosylceramidase)

Identity

Other names-
HGNC (Hugo) GALC
LocusID (NCBI) 2581
Location 14q31.3
Location_base_pair Starts at 88399358 and ends at 88459615 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)GALC   4115
Cards
Entrez_Gene (NCBI)GALC  2581  galactosylceramidase
GeneCards (Weizmann)GALC
Ensembl (Hinxton)ENSG00000054983 [Gene_View]  chr14:88399358-88459615 [Contig_View]  GALC [Vega]
ICGC DataPortalENSG00000054983
cBioPortalGALC
AceView (NCBI)GALC
Genatlas (Paris)GALC
WikiGenes2581
SOURCE (Princeton)NM_000153 NM_001037525 NM_001201401 NM_001201402
Genomic and cartography
GoldenPath (UCSC)GALC  -  14q31.3   chr14:88399358-88459615 -  14q31.3   [Description]    (hg19-Feb_2009)
EnsemblGALC - 14q31.3 [CytoView]
Mapping of homologs : NCBIGALC [Mapview]
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)AC_000146 NC_000014 NC_018925 NG_011853 NT_026437 NW_001838113 NW_004929393
Consensus coding sequences : CCDS (NCBI)GALC
Cluster EST : UnigeneHs.513439 [ NCBI ]
CGAP (NCI)Hs.513439
Alternative Splicing : Fast-db (Paris)GSHG0009534
Alternative Splicing GalleryENSG00000054983
Gene ExpressionGALC [ NCBI-GEO ]     GALC [ SEEK ]   GALC [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54803 (Uniprot)
NextProtP54803  [Medical]
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 ]   
Domains : Interpro (EBI)Glyco_hydro_59 [organisation]   Glyco_hydro_catalytic_dom [organisation]   Glycoside_hydrolase_SF [organisation]  
Related proteins : CluSTrP54803
Domain families : Pfam (Sanger)Glyco_hydro_59 (PF02057)   
Domain families : Pfam (NCBI)pfam02057   
DMDM Disease mutations2581
Blocks (Seattle)P54803
Human Protein AtlasENSG00000054983 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidP54803
Interologous Interaction database P54803
IntegromeDBGALC
STRING (EMBL)GALC
Ontologies - Pathways
Ontology : AmiGOgalactosylceramidase activity  mitochondrion  lysosome  carbohydrate metabolic process  sphingolipid metabolic process  galactosylceramide catabolic process  glycosphingolipid metabolic process  lysosomal lumen  small molecule metabolic process  extracellular vesicular exosome  
Ontology : EGO-EBIgalactosylceramidase activity  mitochondrion  lysosome  carbohydrate metabolic process  sphingolipid metabolic process  galactosylceramide catabolic process  glycosphingolipid metabolic process  lysosomal lumen  small molecule metabolic process  extracellular vesicular exosome  
Pathways : KEGGSphingolipid metabolism    Lysosome   
Protein Interaction DatabaseGALC
Wikipedia pathwaysGALC
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)GALC
snp3D : Map Gene to Disease2581
SNP (GeneSNP Utah)GALC
SNP : HGBaseGALC
Genetic variants : HAPMAPGALC
Exome VariantGALC
1000_GenomesGALC 
ICGC programENSG00000054983 
Somatic Mutations in Cancer : COSMICGALC 
CONAN: Copy Number AnalysisGALC 
Mutations and Diseases : HGMDGALC
Genomic VariantsGALC  GALC [DGVbeta]
dbVarGALC
ClinVarGALC
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM245200    606890   
MedgenGALC
GENETestsGALC
Disease Genetic AssociationGALC
Huge Navigator GALC [HugePedia]  GALC [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneGALC
Homology/Alignments : Family Browser (UCSC)GALC
Phylogenetic Trees/Animal Genes : TreeFamGALC
Chemical/Protein Interactions : CTD2581
Chemical/Pharm GKB GenePA28530
Clinical trialGALC
Cancer Resource (Charite)ENSG00000054983
Other databases
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
CoreMineGALC
iHOPGALC
OncoSearchGALC
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 13:55:46 CEST 2014

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