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GIFtS

ASAH1 Gene

protein-coding   GIFtS: 63
GCID: GC08M017958

N-acylsphingosine amidohydrolase (acid ceramidase) 1

(Previous name: N-acylsphingosine amidohydrolase (acid ceramidase) )
(Previous symbol: ASAH)
 Explore 16 diseases affiliated with
ASAH1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ASAH1    

Aliases
for ASAH1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
N-Acylsphingosine Amidohydrolase (Acid Ceramidase) 11 2     EC 3.5.1.233 8
AC1 2 3 5     FLJ215581
ASAH1 2 3     N-Acylsphingosine Amidohydrolase (Acid Ceramidase)1
PHP321 2 3     PHP2
Acid CDase2 3     SMAPME2
Acylsphingosine Deacylase2 3     Acid Ceramidase2
Putative 32 KDa Heart Protein2 3     N-Acylsphingosine Amidohydrolase3
ACDase2 3     

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


Summaries
for ASAH1 gene

(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:
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)

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

summary for ASAH1:
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. The expression of ceramides
increases in response to stressful stimuli, such as proapoptotic cytokines, cancer chemotherapeutic agents,
UV and ionizing radiation, vitamins such as retinoic acid, and serum deprivation.

Gene Wiki entry for ASAH1


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_167187.1  
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

Proteins
for ASAH1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals ASAH1 Proteins
    Novus Biologicals ASAH1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    ThermoFisher Antibodies for ASAH1

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    Uscn ELISAs and CLIAs for ASAH1

    Protein Domains /
    Families
    for ASAH1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ASAH1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR003199 Chologlycine_hydro
     IPR016699 Acid_ceramidase-like

    Graphical View of Domain Structure for InterPro Entry Q13510

    ProtoNet protein and cluster: Q13510

    1 Blocks protein family: IPB003199 Choloylglycine hydrolase

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


    Function
    for ASAH1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASAH1
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate ASAH1:
    hsa-miR-27a hsa-miR-520g hsa-miR-590-3p hsa-miR-27b hsa-miR-452
    SwitchGear 3'UTR luciferase reporter plasmid: ASAH1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASAH1 (see all 7)
    OriGene shRNA RFP: ASAH1
    OriGene siRNA: ASAH1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASAH1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): ASAH1 (NM_004315)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASAH1 

    Cell Line
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    Search LifeMap BioReagents cell lines for ASAH1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASAH1

    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


    Animal Models:
         Mouse knock-out Asah1tm1Esc for ASAH1
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Asah1):
     homeostasis/metabolism  liver/biliary system  mortality/aging 

    ASAH1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ASAH1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Sphingolipid metabolism
    		Sphingolipid metabolism1.00
    		Sphingolipid metabolism0.54
    		Glycosphingolipid metabolism0.54
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3sphingosine and sphingosine-1-phosphate metabolism
    		sphingosine and sphingosine-1-phosphate metabolism1.00
    4S-1P Stimulated Signaling
    		S-1P Stimulated Signaling1.00
    5Signal Transduction of S1P Receptor
    		Signal Transduction of S1P Receptor1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

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

    3 BioSystems Pathways for ASAH1 
        Signal Transduction of S1P Receptor
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0006644phospholipid metabolic process TAS--
    GO:0006665sphingolipid metabolic process TAS--
    GO:0006672ceramide metabolic process TAS8955159
    GO:0006687glycosphingolipid metabolic process TAS--


    ASAH1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ASAH1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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]
    OleylethanolamideGPR55 agonist. Also PPARalpha agonist[111-58-0]

    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 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 

    Transcripts
    for ASAH1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
    15 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
    ENST00000520869 ENST00000520051 ENST00000417108

    miRNA
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    Inhib. RNA
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    Clone
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    Additional cDNA 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.120628380  DT.97810593  DT.97845723  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):

    BF373113 H64496 CA314638 BE254802 BC035453 D79939 BP375705 CR602103 
    C04683 CB161615 BM929502 BF589151 BX394022 BQ876663 BQ018767 T30838 
    C04895 AA345123 AA953206 AI811562 AA385004 AW473539 CD517895 BM674502 

    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

    Expression
    for ASAH1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAATAAACAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ASAH1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature follicles (In-vitro growth and ...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for ASAH1 gene

    (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 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 63(a)
    		 1 ↔ 1
    		 5(109337336-109354382)
    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
    for ASAH1 gene

    (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



    Genomic Variants
    for ASAH1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/927 NCBI SNPs in ASAH1 are shown (see all 927)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378535951,2
    		Cpathogenic23856218(-) AACCTA/GTCCTC 6 Y C mis10--------
    rs1378535941,2
    		Cpathogenic23867312(-) TTATGA/TATTAT 6 E V mis10--------
    rs1378535971,2
    		Cpathogenic23869429(-) AGCAAC/GTAAAA 6 L V mis10--------
    rs1378535931,2
    		Cpathogenic23870088(-) TCTTAA/CACTGA 6 K T mis10--------
    rs1378535961,2
    		Cpathogenic23872388(-) AAACAA/GATTAT 6 N D mis10--------
    rs771913261,2
    		F,--16457932(+) ATCCTC/TTTATA 3 -- ds50011Minor allele frequency- T:0.02WA 118
    rs735816671,2
    		C,--16457973(+) TCACTG/AAAGTT 3 -- ds50011Minor allele frequency- A:0.50WA 2
    rs761287721,2
    		C,F,--16458031(+) GCAAAT/CTGGGT 3 -- ds50012Minor allele frequency- C:0.03WA NA 238
    rs745173431,2
    		C,F,--16458076(+) GTAAGA/GGTAAG 3 -- ds50011Minor allele frequency- G:0.03WA 118
    rs1137478541,2
    		C,--16458089(+) TGTGAC/GCGTTT 3 -- ds50012Minor allele frequency- G:0.03WA 120

    HapMap Linkage Disequilibrium report for ASAH1 (17913925 - 17942507 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ASAH1
         1 Indel: 59460
    Human Gene Mutation Database (HGMD): ASAH1

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ASAH1

    Disorders / Diseases
    for ASAH1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    ASAH1 for disorders           About GeneDecksing

    OMIM gene information: 613468   
    OMIM disorders: 228000  
    UniProtKB/Swiss-Prot: ASAH1_HUMAN, Q13510
  • Defects in ASAH1 are the cause of Farber lipogranulomatosis (FL) [MIM:228000]; also known as Farber disease
    • (FD). This sphingolipid disease is 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
  • Defects in ASAH1 are the cause of 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

    16 diseases for ASAH1:    About MalaCards
    farber lipogranulomatosis    lipogranulomatosis    primitive neuroectodermal tumor    neuroectodermal tumors
    prostate cancer, progression of    prostate cancer    thyroid carcinoma    alzheimer's disease
    thyroiditis    prostatitis    breast cancer    obesity
    sarcoma    hypoxia    carcinoma    leukemia

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

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ASAH1 (5 documents)

    Export disorders for ASAH1 gene to outside databases

    Publications
    for ASAH1 gene

    (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 84):
    (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. Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach. (PubMed id 16263699)1, 2 Lewandrowski U.... Sickmann A. (2006)
    5. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    6. 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)
    7. 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)
    8. Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease. (PubMed id 12638942)1, 2 Muramatsu T.... Inui K. (2002)
    9. Molecular analysis of acid ceramidase deficiency in patients with Farber disease. (PubMed id 11241842)1, 2 Bar J.... Sandhoff K. (2001)
    10. Purification, characterization, and biosynthesis of human acid ceramidase. (PubMed id 7744740)1, 2 Bernardo K.... Sandhoff K. (1995)

    External Searches for ASAH1 gene

    (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)

    Genome Databases showing ASAH1 gene

    (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

    Other Databases showing ASAH1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ASAH1 gene

    (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

    Intellectual Property
    for ASAH1 gene

    (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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