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ASAH1 (N-acylsphingosine amidohydrolase 1)

Identity

Alias_namesASAH
N-acylsphingosine amidohydrolase (acid ceramidase)
Alias_symbol (synonym)AC
PHP32
FLJ21558
ACDase
Other aliasPHP
SMAPME
HGNC (Hugo) ASAH1
LocusID (NCBI) 427
Atlas_Id 50162
Location 8p22  [Link to chromosome band 8p22]
Location_base_pair Starts at 18056299 and ends at 18084998 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)
ASAH1 (8p22) / ASAH1 (8p22)ASAH1 (8p22) / CTBP1 (4p16.3)ASAH1 (8p22) / PCM1 (8p22)
ASAH1 (8p22) / SF3B3 (16q22.1)SHROOM3 (4q21.1) / ASAH1 (8p22)TNKS (8p23.1) / ASAH1 (8p22)
TNKS 8p23.1 / ASAH1 8p22

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
Cards
Entrez_Gene (NCBI)ASAH1  427  N-acylsphingosine amidohydrolase 1
AliasesAC; ACDase; ASAH; PHP; 
PHP32; SMAPME
GeneCards (Weizmann)ASAH1
Ensembl hg19 (Hinxton)ENSG00000104763 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000104763 [Gene_View]  chr8:18056299-18084998 [Contig_View]  ASAH1 [Vega]
ICGC DataPortalENSG00000104763
TCGA cBioPortalASAH1
AceView (NCBI)ASAH1
Genatlas (Paris)ASAH1
WikiGenes427
SOURCE (Princeton)ASAH1
Genetics Home Reference (NIH)ASAH1
Genomic and cartography
GoldenPath hg38 (UCSC)ASAH1  -     chr8:18056299-18084998 -  8p22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASAH1  -     8p22   [Description]    (hg19-Feb_2009)
EnsemblASAH1 - 8p22 [CytoView hg19]  ASAH1 - 8p22 [CytoView hg38]
Mapping of homologs : NCBIASAH1 [Mapview hg19]  ASAH1 [Mapview hg38]
OMIM159950   228000   613468   
Gene and transcription
Genbank (Entrez)AI241768 AK025211 AK025732 AK098299 AK222780
RefSeq transcript (Entrez)NM_001127505 NM_004315 NM_177924
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASAH1
Cluster EST : UnigeneHs.633993 [ NCBI ]
CGAP (NCI)Hs.633993
Alternative Splicing GalleryENSG00000104763
Gene ExpressionASAH1 [ NCBI-GEO ]   ASAH1 [ EBI - ARRAY_EXPRESS ]   ASAH1 [ SEEK ]   ASAH1 [ MEM ]
Gene Expression Viewer (FireBrowse)ASAH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)427
GTEX Portal (Tissue expression)ASAH1
Human Protein AtlasENSG00000104763-ASAH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13510   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13510  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13510
Splice isoforms : SwissVarQ13510
Catalytic activity : Enzyme3.5.1.23 [ Enzyme-Expasy ]   3.5.1.233.5.1.23 [ IntEnz-EBI ]   3.5.1.23 [ BRENDA ]   3.5.1.23 [ KEGG ]   
PhosPhoSitePlusQ13510
Domains : Interpro (EBI)Acid_ceramidase-like    Acid_ceramidase_N    CBAH/NAAA_C    Chologlycine_hydro/PeptC59   
Domain families : Pfam (Sanger)CBAH (PF02275)    NAAA-beta (PF15508)   
Domain families : Pfam (NCBI)pfam02275    pfam15508   
Conserved Domain (NCBI)ASAH1
DMDM Disease mutations427
Blocks (Seattle)ASAH1
SuperfamilyQ13510
Human Protein Atlas [tissue]ENSG00000104763-ASAH1 [tissue]
Peptide AtlasQ13510
HPRD01969
IPIIPI00418446   IPI00013698   IPI00386230   IPI00059685   IPI00940046   
Protein Interaction databases
DIP (DOE-UCLA)Q13510
IntAct (EBI)Q13510
FunCoupENSG00000104763
BioGRIDASAH1
STRING (EMBL)ASAH1
ZODIACASAH1
Ontologies - Pathways
QuickGOQ13510
Ontology : AmiGOcatalytic activity  extracellular region  extracellular space  ceramide metabolic process  glycosphingolipid metabolic process  ceramidase activity  lysosomal lumen  neutrophil degranulation  extracellular exosome  tertiary granule lumen  ficolin-1-rich granule lumen  
Ontology : EGO-EBIcatalytic activity  extracellular region  extracellular space  ceramide metabolic process  glycosphingolipid metabolic process  ceramidase activity  lysosomal lumen  neutrophil degranulation  extracellular exosome  tertiary granule lumen  ficolin-1-rich granule lumen  
Pathways : BIOCARTAPhospholipids as signalling intermediaries [Genes]   
Pathways : KEGGSphingolipid metabolism    Lysosome   
NDEx NetworkASAH1
Atlas of Cancer Signalling NetworkASAH1
Wikipedia pathwaysASAH1
Orthology - Evolution
OrthoDB427
GeneTree (enSembl)ENSG00000104763
Phylogenetic Trees/Animal Genes : TreeFamASAH1
HOVERGENQ13510
HOGENOMQ13510
Homologs : HomoloGeneASAH1
Homology/Alignments : Family Browser (UCSC)ASAH1
Gene fusions - Rearrangements
Fusion : MitelmanTNKS/ASAH1 [8p23.1/8p22]  [t(8;8)(p22;p23)]  
Fusion: TCGA_MDACCTNKS 8p23.1 ASAH1 8p22 BRCA
Tumor Fusion PortalASAH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASAH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASAH1
dbVarASAH1
ClinVarASAH1
1000_GenomesASAH1 
Exome Variant ServerASAH1
ExAC (Exome Aggregation Consortium)ENSG00000104763
GNOMAD BrowserENSG00000104763
Genetic variants : HAPMAP427
Genomic Variants (DGV)ASAH1 [DGVbeta]
DECIPHERASAH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASAH1 
Mutations
ICGC Data PortalASAH1 
TCGA Data PortalASAH1 
Broad Tumor PortalASAH1
OASIS PortalASAH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASAH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASAH1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ASAH1
DgiDB (Drug Gene Interaction Database)ASAH1
DoCM (Curated mutations)ASAH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASAH1 (select a term)
intoGenASAH1
Cancer3DASAH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM159950    228000    613468   
Orphanet12    2387   
DisGeNETASAH1
MedgenASAH1
Genetic Testing Registry ASAH1
NextProtQ13510 [Medical]
TSGene427
GENETestsASAH1
Target ValidationASAH1
Huge Navigator ASAH1 [HugePedia]
snp3D : Map Gene to Disease427
BioCentury BCIQASAH1
ClinGenASAH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD427
Chemical/Pharm GKB GenePA35025
Clinical trialASAH1
Miscellaneous
canSAR (ICR)ASAH1 (select the gene name)
Probes
Litterature
PubMed74 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASAH1
EVEXASAH1
GoPubMedASAH1
iHOPASAH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:03:54 CET 2017

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