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ASAH2C Gene

protein-coding   GIFtS: 33
GCID: GC10M047999

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

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ASAH2C Gene:
ASAH2C (N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C) is a protein-coding gene. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ASAH2C (P0C7U2) (see all 11)
     GPEPPFF  TCKPALG  TTMSGRR  WHIPDTA 


    See ASAH2C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


    ENSEMBL proteins: 
     ENSP00000392320   ENSP00000399947  
    Reactome Protein details: P0C7U2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with ASAH2C           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0017040ceramidase activity IEA--
         
    Find genes that share ontologies with ASAH2C           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ASAH2C

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ASAH2C About    
    See pathways by source

    SuperPathContained pathways About
    1Sphingolipid metabolism
    Sphingolipid metabolism0.61
    Glycosphingolipid metabolism0.56
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37


    Find genes that share SuperPaths with ASAH2C           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ASAH2C
        Glycosphingolipid metabolism


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ASAH2C
    Interactions:

        Search GeneGlobe Interaction Network 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:    About this table

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

    Find genes that share ontologies with ASAH2C           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

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

    Selected 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--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    ASAH2C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASAH2C Protein Expression
        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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ASAH2C gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    55(a)
    1 → many
    6(9303237-9320280)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    60(a)
    1 → many
    GL343902.1(84646-124007)
    zebrafish
    (Danio rerio)
    Actinopterygii asah26
    N-acylsphingosine amidohydrolase 2
    51(a)
    1 → many
    12(6801178-6826667) ENSDARG00000012829
    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)
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    Paralogs for ASAH2C gene
    ASAH2B2  ASAH22  
    2 SIMAP similar genes for ASAH2C using alignment to 1 protein entry:     ASA2C_HUMAN:
    ASAH2    ASAH2B

    Find genes that share paralogs with ASAH2C           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ASAH2C
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610987    OMIM disorders: --


    Find genes that share disorders with ASAH2C           About GenesLikeMe


    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)
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    PubMed articles for ASAH2C gene integrated from 10 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. (Nature 2004)
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 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. (Neurogenetics 2007)
    4. Identification of a novel amidase motif in neutral ceramidase. (PubMed id 16229686)1 Galadari S.... Hannun Y.A. (Biochem. J. 2006)
    5. Mechanisms of sphingosine and sphingosine 1-phosphate generation in human platelets. (PubMed id 16061940)1 Tani M.... Igarashi Y. (J. Lipid Res. 2005)
    6. Subcellular localization of human neutral ceramidase expressed in HEK293 cells. (PubMed id 15845354)1 Hwang Y.H.... Ito M. (Biochem. Biophys. Res. Commun. 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. (J. Biol. Chem. 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. (Genome Res. 2004)
    9. Neutral ceramidase gene: role in regulating ceramide-induced apoptosis. (PubMed id 14557071)1 Choi M.S....Mukherjee A.B. (Gene 2003)
    10. Molecular cloning and characterization of a human mitochondrial ceramidase. (PubMed id 10781606)1 El Bawab S....Hannun Y.A. (J. Biol. Chem. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 653365 HGNC: 23457 Ensembl:ENSG00000072444 euGenes: HUgn653365 ECgene: ASAH2C
    H-InvDB: ASAH2C

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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