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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASAH1 Gene

protein-coding   GIFtS: 65
GCID: GC08M017958

N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 1

(Previous name: N-acylsphingosine amidohydrolase (acid ceramidase))
(Previous symbol: ASAH)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 11 2     PHP322 3
ASAH1 2 3     EC 3.5.1.233 8
AC2 3 5     N-Acylsphingosine Amidohydrolase (Acid Ceramidase)1
Acid CDase2 3     PHP2
Acylsphingosine Deacylase2 3     SMAPME2
Putative 32 KDa Heart Protein2 3     Acid Ceramidase2
ACDase2 3     N-Acylsphingosine Amidohydrolase3

External Ids:    HGNC: 7351   Entrez Gene: 4272   Ensembl: ENSG000001047637   OMIM: 6134685   UniProtKB: Q135103   

Export aliases for ASAH1 gene to outside databases

Previous GC identifers: GC08M017790 GC08M017976 GC08M017924 GC08M016458


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ASAH1 Gene:
This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta
subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and
degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a
lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct
isoforms have been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for ASAH1 Gene: 
ASAH1 (N-acylsphingosine amidohydrolase (acid ceramidase) 1) is a protein-coding gene. Diseases associated with ASAH1 include farber lipogranulomatosis, and lipogranulomatosis, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include ceramidase activity and catalytic activity. An important paralog of this gene is NAAA.

UniProtKB/Swiss-Prot: ASAH1_HUMAN, Q13510
Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid

summary for ASAH1 Gene:
Ceramidases (EC 3.5.1.23) are a group of enzymes which catalyze the hydrolysis of ceramides to produce
sphingosine, which subsequently undergoes phosphorylation to generate sphingosine-1-phosphate (S1P).
Ceramide and its downstream products, sphingosine and S1P, are bioactive lipids that mediate various
cellular processes including cell growth arrest, differentiation and apoptosis.

Gene Wiki entry for ASAH1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASAH1 gene promoter:
         ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ASAH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ASAH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASAH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p22   Ensembl cytogenetic band:  8p22   HGNC cytogenetic band: 8p22

ASAH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASAH1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M017958:  view genomic region     (about GC identifiers)

Start:
17,913,925 bp from pter      End:
17,942,507 bp from pter
Size:
28,583 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ASAH1_HUMAN, Q13510 (See protein sequence)
Recommended Name: Acid ceramidase precursor  
Size: 395 amino acids; 44660 Da
Subunit: Heterodimer of one alpha and one beta subunit
Subcellular location: Lysosome
Sequence caution: Sequence=AAC73009.1; Type=Frameshift; Positions=15, 21;
Secondary accessions: E9PDS0 Q6W898 Q96AS2
Alternative splicing: 3 isoforms:  Q13510-1   Q13510-2   Q13510-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ASAH1: NX_Q13510

Explore proteomics data for ASAH1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13510

  • 4/12 DME Specific Peptides for ASAH1 (Q13510) (see all 12)
     DDRRTPA  LKVIVNS  DVTKGQFE  TSYEEAKN 

    ASAH1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASAH1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001120977.1  NP_004306.3  NP_808592.2  

    ENSEMBL proteins: 
     ENSP00000262097   ENSP00000371152   ENSP00000427751   ENSP00000326970   ENSP00000394125  
    Reactome Protein details: Q13510
    Human Recombinant Protein Products for ASAH1: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for ASAH1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome ----
    GO:0043202lysosomal lumen TAS--

    ASAH1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR003199 Chologlycine_hydro
     IPR016699 Acid_ceramidase-like

    Graphical View of Domain Structure for InterPro Entry Q13510

    ProtoNet protein and cluster: Q13510

    1 Blocks protein domain: IPB003199 Choloylglycine hydrolase

    UniProtKB/Swiss-Prot: ASAH1_HUMAN, Q13510
    Similarity: Belongs to the acid ceramidase family


    ASAH1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASAH1_HUMAN, Q13510
    Function: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid
    Catalytic activity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine

         Enzyme Number (IUBMB): EC 3.5.1.231 2

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity TAS8955159
    GO:0016787hydrolase activity ----
    GO:0017040ceramidase activity TAS--
         
    ASAH1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Asah1):
     homeostasis/metabolism  liver/biliary system  mortality/aging 

    ASAH1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Asah1tm1Esc for ASAH1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASAH1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASAH1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASAH1 
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    hsa-miR-27a hsa-miR-520g hsa-miR-590-3p hsa-miR-27b hsa-miR-452
    SwitchGear 3'UTR luciferase reporter plasmidASAH1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ASAH1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Glycosphingolipid metabolism0.55
    Sphingolipid metabolism0.63
    Sphingolipid Metabolism0.42
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3sphingosine and sphingosine-1-phosphate metabolism
    sphingosine and sphingosine-1-phosphate metabolism
    4Signal Transduction of S1P Receptor
    Signal Transduction of S1P Receptor
    5S-1P Stimulated Signaling
    S-1P Stimulated Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ASAH1
        S-1P Stimulated Signaling

    4 BioSystems Pathways for ASAH1
        Signal Transduction of S1P Receptor
    Sphingolipid Metabolism
    sphingosine and sphingosine-1-phosphate metabolism
    Ceramide signaling pathway

    4        Reactome Pathways for ASAH1
        Sphingolipid metabolism
    Glycosphingolipid metabolism
    Metabolism
    Metabolism of lipids and lipoproteins


    3         Kegg Pathways  (Kegg details for ASAH1):
        Sphingolipid metabolism
    Metabolic pathways
    Lysosome


    ASAH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASAH1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/62 Interacting proteins for ASAH1 (Q135102, 3 ENSP000003711524) via UniProtKB, MINT, STRING, and/or I2D (see all 62)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SETDB1Q150472, 3MINT-64699 I2D: score=5 
    TSC22D1Q157142, 3MINT-64700 I2D: score=5 
    GBAP040622, ENSP000003145084MINT-4054731 STRING: ENSP00000314508
    SMPD1P174053, ENSP000003404094I2D: score=2 STRING: ENSP00000340409
    ATP6V1B2P212812, ENSP000002763904MINT-4054731 STRING: ENSP00000276390
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006672ceramide metabolic process TAS8955159
    GO:0006687glycosphingolipid metabolic process TAS--
    GO:0008219cell death IEA--

    ASAH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ASAH1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ASAH1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ceranib 1Ceramidase inhibitor; antiproliferative[328076-61-5]

    10/120 HMDB Compounds for ASAH1 (see all 120)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    5 Novoseek inferred chemical compound relationships for ASAH1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ceramide 87.7 33 17264167 (2), 10974027 (2), 15774472 (2), 15289350 (2) (see all 17)
    sphingosine 87.1 13 15774472 (2), 19298866 (2), 16803890 (1), 20502000 (1) (see all 10)
    n-oleoylethanolamine 80.4 5 15289350 (2), 10974027 (1)
    fatty acid 23.1 4 10527524 (1), 10610716 (1), 8955159 (1), 19298866 (1)
    lipid 8.38 2 18691012 (1), 19298866 (1)

    Search CenterWatch for drugs/clinical trials and news about ASAH1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ASAH1 gene (3 alternative transcripts): 
    NM_001127505.1  NM_004315.4  NM_177924.3  

    Unigene Cluster for ASAH1:

    N-acylsphingosine amidohydrolase (acid ceramidase) 1
    Hs.527412  [show with all ESTs]
    Unigene Representative Sequence: NM_177924
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262097(uc003wyl.2 uc003wym.2) ENST00000381733(uc003wyn.2 uc003wyo.2)
    ENST00000520781 ENST00000314146 ENST00000519468 ENST00000521542 ENST00000518746
    ENST00000523593 ENST00000519545 ENST00000517409 ENST00000523744 ENST00000518087
    ENST00000520051 ENST00000417108
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK025732.1 AK098299.1 AK222780.1 AK289481.1 AY305384.1 BC016481.1 BC016828.1 BC035453.1 
    U47674.1 U70063.1 

    24/50 DOTS entries (see all 50):

    DT.92459466  DT.420008  DT.92325601  DT.92459472  DT.92459479  DT.100882272  DT.120628343  DT.121644735 
    DT.87078130  DT.97845723  DT.120628380  DT.97810593  DT.100882266  DT.410578  DT.100673873  DT.95294073 
    DT.100882251  DT.100882267  DT.120628383  DT.86996481  DT.100882254  DT.120628285  DT.95294067  DT.100741691 

    24/772 AceView cDNA sequences (see all 772):

    BC035453 BM856276 BQ876663 CB162383 C05564 BQ018767 BF434573 BF589151 
    CA405561 AI298490 AA363553 AU127912 AW338749 CB161615 C04683 BF373110 
    BI255924 BE254802 AU280489 C04717 F05511 AV716729 BM455192 BX394022 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for ASAH1 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a ·
    SP1:                    -     -     -     -     -     -     -                             -     -                 -                 -     -     -               
    SP2:                                                  -     -                             -     -                 -                 -     -     -               
    SP3:                          -     -     -     -     -     -                             -     -                                                               
    SP4:                                                                                      -     -                                                               
    SP5:                                                  -     -                                                                                                   

    ExUns: 12b ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for ASAH1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ASAH1 expression in normal human tissues (normalized intensities)      ASAH1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATAAACAG
    ASAH1 Expression
    About this image


    ASAH1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/27 selected tissues (see all 27) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
             brain/midbrain   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             cd14+ cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             urinary bladder ; urothelial cells   
             visceral organ   

    See ASAH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ASAH1

    SOURCE GeneReport for Unigene cluster: Hs.527412

    UniProtKB/Swiss-Prot: ASAH1_HUMAN, Q13510
    Tissue specificity: Broadly expressed with highest expression in heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including ASAH1: 
              Hepatotoxicity in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ASAH1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asah11 , 5 N-acylsphingosine amidohydrolase 11, 5 83.5(n)1
    79.44(a)1
      8 (23.89 cM)5
    118861  NM_019734.21  NP_062708.11 
     413401975 
    chicken
    (Gallus gallus)
    Aves ASAH11 N-acylsphingosine amidohydrolase (acid ceramidase) 1 less 67.26(n)
    62.66(a)
      422727  NM_001006453.1  NP_001006453.1 
    lizard
    (Anolis carolinensis)
    Reptilia ASAH16
    Uncharacterized protein
    59(a)
    1 ↔ 1
    5(109337336-109372006)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.221642 Xenopus laevis transcribed sequence with weak similarity to protein refNP_004306.1 (H.sapiens) N-acylsphingosine amidohydrolase (acid ceramidase) [Homo sapiens] less 72.83(n)    BX845095.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc660262 N-acylsphingosine amidohydrolase 71.98(n)   393549  BC056693.1 
    worm
    (Caenorhabditis elegans)
    Secernentea asah-11 Protein ASAH-1 48.99(n)
    40.42(a)
      173120  NM_060772.7  NP_493173.1 


    ENSEMBL Gene Tree for ASAH1 (if available)
    TreeFam Gene Tree for ASAH1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASAH1 gene
    NAAA2  
    1 SIMAP similar gene for ASAH1 using alignment to 19 protein entries:     ASAH1_HUMAN (see all proteins):
    NAAA

    ASAH1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1158 SNPs in ASAH1 are shown (see all 1158)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0215854
    Farber lipogranulomatosis (FL)4--see VAR_0215852 N D mis40--------
    VAR_0215794
    Farber lipogranulomatosis (FL)4--see VAR_0215792 Y C mis40--------
    VAR_0215864
    Farber lipogranulomatosis (FL)4--see VAR_0215862 P R mis40--------
    VAR_0088624
    Farber lipogranulomatosis (FL)4--see VAR_0088622 T K mis40--------
    VAR_0215844
    Farber lipogranulomatosis (FL)4--see VAR_0215842 R G mis40--------
    VAR_0381694
    Farber lipogranulomatosis (FL)4--see VAR_0381692 L V mis40--------
    VAR_0215824
    Farber lipogranulomatosis (FL)4--see VAR_0215822 E V mis40--------
    VAR_0687224
    Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME)4--see VAR_0687222 T M mis40--------
    VAR_0215814
    Farber lipogranulomatosis (FL)4--see VAR_0215812 V E mis40--------
    VAR_0381674
    Farber lipogranulomatosis (FL)4--see VAR_0381672 H D mis40--------

    HapMap Linkage Disequilibrium report for ASAH1 (17913925 - 17942507 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ASAH1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv820215CNV Loss19587683
    nsv522647CNV Loss19592680
    nsv890596CNV Loss21882294


    Human Gene Mutation Database (HGMD): ASAH1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613468   
    OMIM disorders: 228000  
    UniProtKB/Swiss-Prot: ASAH1_HUMAN, Q13510
  • Farber lipogranulomatosis (FL) [MIM:228000]: Sphingolipid disease characterized by subcutaneous
    lipid-loaded nodules, excruciating pain in the joints and extremities, marked accumulation of ceramide in
    lysosomes, and death by three years of age. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) [MIM:159950]: An autosomal recessive
    neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures,
    after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to
    degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The
    disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from
    respiratory insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 18 diseases for ASAH1:    About MalaCards
    farber lipogranulomatosis    lipogranulomatosis    primitive neuroectodermal tumor    prostate cancer, progression of
    spinal muscular atrophy    muscular atrophy    prostate cancer    obesity
    thyroiditis    prostatitis    sarcoma    hypoxia
    alzheimer's disease    schizophrenia    melanoma    breast cancer
    leukemia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for ASAH1:
    Farber lipogranulomatosis

    ASAH1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for ASAH1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lipogranulomatosis 90.2 3 17264167 (1)
    cancer 25.3 8 16500425 (2), 18691012 (1), 19107118 (1), 17426710 (1) (see all 5)
    tumors 18.4 9 19905902 (3), 18691012 (1), 19107118 (1), 19874262 (1) (see all 6)

    Genetic Association Database (GAD): ASAH1
    Human Genome Epidemiology (HuGE) Navigator: ASAH1 (5 documents)

    Export disorders for ASAH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ASAH1 gene, integrated from 9 sources (see all 86):
    (articles sorted by number of sources associating them with ASAH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. (PubMed id 10610716)1, 2, 3, 9 Li C.M.... Schuchman E.H. (1999)
    2. Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease. (PubMed id 8955159)1, 2, 3, 9 Koch J.... Sandhoff K. (1996)
    3. Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. (PubMed id 22703880)1, 2 Zhou J....Melki J. (2012)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (2006)
    7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry. (PubMed id 12754519)1, 2 Zhang H.... Aebersold R. (2003)
    10. Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease. (PubMed id 12638942)1, 2 Muramatsu T.... Inui K. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 427 HGNC: 735 AceView: ASAH1 Ensembl:ENSG00000104763 euGenes: HUgn427
    ECgene: ASAH1 Kegg: 427 H-InvDB: ASAH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ASAH1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ASAH1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ASAH1 gene:
    Search GeneIP for patents involving ASAH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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