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

ASAH2C Gene

protein-coding   GIFtS: 31
GCID: GC10M047999

N-Acylsphingosine Amidohydrolase (Non-Lysosomal Ceramidase)...

Alzheimer's & Parkinson's 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 (Non-Lysosomal Ceramidase) 2C1 2
EC 3.5.1.233 8
bA98I6.32
N-Acylsphingosine Amidohydrolase 2C3
Non-Lysosomal Ceramidase C3
ASAH2L5

External Ids:    HGNC: 234571   Entrez Gene: 6533652   Ensembl: ENSG000000724447   OMIM: 6109875   UniProtKB: P0C7U23   

Export aliases for ASAH2C gene to outside databases

Previous GC identifers: GC10U900475 GC10M047523 GC10M045947


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

GeneCards Summary for ASAH2C Gene: 
ASAH2C (N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C) is a protein-coding gene. Diseases associated with ASAH2C include tuberculosis, and alzheimer's disease. GO annotations related to this gene include ceramidase activity. An important paralog of this gene is ASAH2B.

UniProtKB/Swiss-Prot: ASA2C_HUMAN, P0C7U2
Function: May hydrolyze the sphingolipid ceramide into sphingosine and free fatty acid (By similarity)

summary for ASAH2C 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 ASAH2C 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
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ASAH2C gene promoter:
         ER-alpha   STAT1   HOXA3   Evi-1   NF-AT   NF-AT4   FOXC1   NF-AT2   NF-AT3   NF-AT1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for ASAH2C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASAH2C


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

Entrez Gene cytogenetic band: 10q11.22   Ensembl cytogenetic band:  10q11.22   HGNC cytogenetic band: 10q11.22

ASAH2C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASAH2C gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M047999:  view genomic region     (about GC identifiers)

Start:
48,001,603 bp from pter      End:
48,055,018 bp from pter
Size:
53,416 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: ASA2C_HUMAN, P0C7U2 (See protein sequence)
Recommended Name: Putative neutral ceramidase C  
Size: 622 amino acids; 68749 Da
Caution: In contrast to other mammalian members of the family, ASAH2C has no predicted transmembrane domain

Explore the universe of human proteins at neXtProt for ASAH2C: NX_P0C7U2

Explore proteomics data for ASAH2C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P0C7U2

  • 4/11 DME Specific Peptides for ASAH2C (P0C7U2) (see all 11)
     GPEPPFF  TCKPALG  TTMSGRR  WHIPDTA 

    ASAH2C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ASAH2C Protein Expression

    ENSEMBL proteins: 
     ENSP00000392320   ENSP00000399947  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR006823 Ceramidase_alk

    Graphical View of Domain Structure for InterPro Entry P0C7U2

    ProtoNet protein and cluster: P0C7U2

    UniProtKB/Swiss-Prot: ASA2C_HUMAN, P0C7U2
    Similarity: Belongs to the neutral ceramidase family


    ASAH2C 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: ASA2C_HUMAN, P0C7U2
    Function: May hydrolyze the sphingolipid ceramide into sphingosine and free fatty acid (By similarity)
    Catalytic activity: N-acylsphingosine + H(2)O = a carboxylate + sphingosine

         Enzyme Number (IUBMB): EC 3.5.1.231 2

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017040ceramidase activity IEA--
         
    ASAH2C for ontologies           About GeneDecksing


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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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ASAH2C

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ASAH2C (ENSP000003999474) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006665sphingolipid metabolic process IEA--

    ASAH2C 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ASAH2C available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Ceranib 1Ceramidase inhibitor; antiproliferative[328076-61-5]

    10/119 HMDB Compounds for ASAH2C (see all 119)    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--

    Search CenterWatch for drugs/clinical trials and news about ASAH2C / ASA2C

    (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,
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    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

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000420079 ENST00000426610

    miRNA
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    GeneLoc Exon Structure


    (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

    ASAH2C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ASAH2C Expression
    About this image


    See ASAH2C Protein Expression from SPIRE MOPED and PaxDB    SABiosciences Custom PCR Arrays for ASAH2C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASAH2C

    (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 ASAH2C gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ASAH26
    Uncharacterized protein
    55(a)
    1 → many
    6(9303237-9320280)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    59(a)
    1 → many
    GL343902.1(84646-124007)
    zebrafish
    (Danio rerio)
    Actinopterygii asah26
    N-acylsphingosine amidohydrolase 2
    51(a)
    1 → many
    12(6801178-6826667)
    fruit fly
    (Drosophila melanogaster)
    Insecta CDase6
    Ceramidase
    38(a)
    1 → many
    3R(26285243-26291458)
            Species with no ortholog for ASAH2C

    ENSEMBL Gene Tree for ASAH2C (if available)
    TreeFam Gene Tree for ASAH2C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASAH2C gene
    ASAH2B2  ASAH22  
    2 SIMAP similar genes for ASAH2C using alignment to 1 protein entry:     ASA2C_HUMAN:
    ASAH2    ASAH2B

    ASAH2C 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
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ASAH2C
    DNA2.0 Custom Variant and Variant Library Synthesis for ASAH2C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610987    OMIM disorders: --

    2 diseases for ASAH2C:    About MalaCards
    tuberculosis    alzheimer's disease


    ASAH2C for disorders           About GeneDecksing


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

    Export disorders for ASAH2C 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 ASAH2C gene integrated from 9 sources:
    (articles sorted by number of sources associating them with ASAH2C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    2. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    3. A novel gene derived from a segmental duplication shows perturbed expression in Alzheimer's disease. (PubMed id 17334805)3 Avramopoulos D.... Bassett S.S. (2007)
    4. Identification of a novel amidase motif in neutral ceramidase. (PubMed id 16229686)1 Galadari S.... Hannun Y.A. (2006)
    5. Mechanisms of sphingosine and sphingosine 1-phosphate generation in human platelets. (PubMed id 16061940)1 Tani M.... Igarashi Y. (2005)
    6. Subcellular localization of human neutral ceramidase expressed in HEK293 cells. (PubMed id 15845354)1 Hwang Y.H.... Ito M. (2005)
    7. Roles for C16-ceramide and sphingosine 1-phosphate in regulating hepatocyte apoptosis in response to tumor necrosis factor-alpha. (PubMed id 15946935)1 Osawa Y....Brenner D.A. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S....Malek J. (2004)
    9. Neutral ceramidase gene: role in regulating ceramide-induced apoptosis. (PubMed id 14557071)1 Choi M.S....Mukherjee A.B. (2003)
    10. Molecular cloning and characterization of a human mitochondrial ceramidase. (PubMed id 10781606)1 El Bawab S....Hannun Y.A. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 653365 HGNC: 23457 Ensembl:ENSG00000072444 euGenes: HUgn653365 ECgene: ASAH2C
    H-InvDB: ASAH2C

    (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 ASAH2C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ASAH2C gene:
    Search GeneIP for patents involving ASAH2C

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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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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    (GIFtS: 73)
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