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ASAH1 (N-acylsphingosine amidohydrolase (acid ceramidase) 1)

Identity

Other namesAC
ACDase
ASAH
PHP
PHP32
SMAPME
HGNC (Hugo) ASAH1
LocusID (NCBI) 427
Location 8p22
Location_base_pair Starts at 17913925 and ends at 17942507 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)ASAH1   735
Entrez_Gene (NCBI)ASAH1  427  N-acylsphingosine amidohydrolase (acid ceramidase) 1
Cards
GeneCards (Weizmann)ASAH1
Ensembl (Hinxton)ENSG00000104763 [Gene_View]  chr8:17913925-17942507 [Contig_View]  ASAH1 [Vega]
AceView (NCBI)ASAH1
Genatlas (Paris)ASAH1
SOURCE (Stanford)NM_001127505 NM_004315 NM_177924
Genomic and cartography
GoldenPath (UCSC)ASAH1  -  8p22   chr8:17913925-17942507 -  8p22   [Description]    (hg19-Feb_2009)
EnsemblASAH1 - 8p22 [CytoView]
Mapping of homologs : NCBIASAH1 [Mapview]
OMIM159950   228000   613468   
Gene and transcription
Genbank (Entrez)AK025211 AK025732 AK098299 AK222780 AK289481
RefSeq transcript (SRS)NM_001127505 NM_004315 NM_177924
RefSeq transcript (Entrez)NM_001127505 NM_004315 NM_177924
RefSeq genomic (SRS)AC_000140 NC_000008 NC_018919 NG_008985 NT_167187 NW_001839126 NW_004078035
RefSeq genomic (Entrez)AC_000140 NC_000008 NC_018919 NG_008985 NT_167187 NW_001839126 NW_004078035
Consensus coding sequences : CCDS (NCBI)ASAH1
Cluster EST : UnigeneHs.633993 [ SRS ] Hs.633993 [ NCBI ]
CGAP (NCI)Hs.633993
Alternative Splicing : Fast-db (Paris)GSHG0029435
Alternative Splicing GalleryENSG00000104763
Gene ExpressionASAH1 [ NCBI-GEO ]   ASAH1 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13510 (SRS) Q13510 (Uniprot)
NextProtQ13510
With graphics : InterProQ13510
Splice isoforms : SwissVarQ13510(Swissvar)
Domains : Interpro (SRS)Acid_ceramidase-like    Chologlycine_hydro   
Domains : Interpro (EBI)Acid_ceramidase-like    Chologlycine_hydro   
Related proteins : CluSTrQ13510
Domain families : Pfam (SRS)CBAH (PF02275)   
Domain families : Pfam (Sanger)CBAH (PF02275)   
Domain families : Pfam (NCBI)pfam02275   
DMDM427
Blocks (Seattle)Q13510
Human Protein AtlasENSG00000104763
HPRD01969
IPIIPI00418446   IPI00013698   IPI00386230   IPI00059685   IPI00940046   
Protein Interaction databases
DIP (DOE-UCLA)Q13510
IntAct (EBI)Q13510
FunCoupENSG00000104763
REACTOMEASAH1
Protein Interaction Database427
BioGRIDASAH1
InParanoidQ13510
Interologous Interaction database Q13510
IntegromeDBASAH1
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ASAH1
SNP (GeneSNP Utah)ASAH1
SNP : HGBaseASAH1
Genetic variants : HAPMAPASAH1
Somatic Mutations in Cancer : COSMICASAH1 
CONAN: Copy Number AnalysisASAH1 
Mutations and Diseases : HGMDASAH1
OMIM159950    228000    613468   
GENETests159950    228000    613468   
Disease Genetic AssociationASAH1
Huge Navigator ASAH1 [HugePedia]  ASAH1 [HugeCancerGEM]
Genomic VariantsASAH1  ASAH1 [DGVbeta]
snp3D : Map Gene to Disease427
General knowledge
Homologs : HomoloGeneASAH1
Homology/Alignments : Family Browser (UCSC)ASAH1
Phylogenetic Trees/Animal Genes : TreeFamASAH1
Catalytic activity : Enzyme3.5.1.23 [ Enzyme-Expasy ]   3.5.1.23 [ Enzyme-SRS ]   3.5.1.23 [ IntEnz-EBI ]   3.5.1.23 [ BRENDA ]   3.5.1.23 [ KEGG ]   
Chemical/Protein Interactions : CTD427
Chemical/Pharm GKB GenePA35025
Clinical trialASAH1
Cancer Resource (Charite)ENSG00000104763
Ontology : AmiGOcatalytic activity  phospholipid metabolic process  sphingolipid metabolic process  ceramide metabolic process  glycosphingolipid metabolic process  cell death  response to organic substance  ceramidase activity  lung development  lysosomal lumen  small molecule metabolic process  
Ontology : EGO-EBIcatalytic activity  phospholipid metabolic process  sphingolipid metabolic process  ceramide metabolic process  glycosphingolipid metabolic process  cell death  response to organic substance  ceramidase activity  lung development  lysosomal lumen  small molecule metabolic process  
Pathways : BIOCARTAPhospholipids as signalling intermediaries [Genes]   
Pathways : KEGGSphingolipid metabolism
Other databases
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
PubGeneASAH1
iHOPASAH1
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
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:38:09 CEST 2013
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