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    ASAH2 N-acylsphingosine amidohydrolase 2 [ Homo sapiens (human) ]

    Gene ID: 56624, updated on 29-Aug-2017
    Official Symbol
    ASAH2provided by HGNC
    Official Full Name
    N-acylsphingosine amidohydrolase 2provided by HGNC
    Primary source
    HGNC:HGNC:18860
    See related
    Ensembl:ENSG00000188611 MIM:611202; Vega:OTTHUMG00000018223
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HNAC1; BCDase; LCDase; NCDase; N-CDase
    Summary
    Ceramidases (EC 3.5.1.23), such as ASAH2, catalyze hydrolysis of the N-acyl linkage of ceramide, a second messenger in a variety of cellular events, to produce sphingosine. Sphingosine exerts both mitogenic and apoptosis-inducing activities, and its phosphorylated form functions as an intra- and intercellular second messenger (see MIM 603730) (Mitsutake et al., 2001 [PubMed 11328816]).[supplied by OMIM, Mar 2008]
    Orthologs
    Location:
    10q11.23
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (50184861..50251564, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (51947000..52008370, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene WASH complex subunit 2A Neighboring gene solute carrier family 9 member 3 pseudogene 1 Neighboring gene dynein cytoplasmic 1 intermediate chain 2 pseudogene 1 Neighboring gene sphingomyelin synthase 1 Neighboring gene RNA, U7 small nuclear 107 pseudogene

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    NHGRI GWA Catalog
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    NHGRI GWA Catalog

    Markers

    Homology

    Clone Names

    • MGC129777

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ceramidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    ceramide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    neutral ceramidase
    Names
    N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2
    acylsphingosine deacylase 2
    mitochondrial ceramidase
    neutral/alkaline ceramidase
    non-lysosomal ceramidase
    NP_001137446.1
    NP_063946.2
    XP_011538272.1
    XP_011538273.1
    XP_011538274.1
    XP_011538275.1
    XP_016871924.1
    XP_016871925.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001143974.2NP_001137446.1  neutral ceramidase isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the internal coding region, compared to variant 1. The resulting isoform (b) is shorter, compared to isoform a.
      Source sequence(s)
      AL450382, N94907
      Consensus CDS
      CCDS44398.1
      UniProtKB/Swiss-Prot
      Q9NR71
      Related
      ENSP00000388206.1, ENST00000447815.5
      Conserved Domains (3) summary
      PTZ00487
      Location:100743
      PTZ00487; ceramidase; Provisional
      pfam04734
      Location:102573
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
      pfam17048
      Location:575742
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
    2. NM_019893.3NP_063946.2  neutral ceramidase isoform a

      See identical proteins and their annotated locations for NP_063946.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL450382, N94907
      Consensus CDS
      CCDS7239.2
      UniProtKB/Swiss-Prot
      Q9NR71
      Related
      ENSP00000378897.3, OTTHUMP00000019606, ENST00000395526.8
      Conserved Domains (3) summary
      PTZ00487
      Location:100778
      PTZ00487; ceramidase; Provisional
      pfam04734
      Location:102608
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
      pfam17048
      Location:610777
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      50184861..50251564 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539971.2XP_011538273.1  neutral ceramidase isoform X3

      Conserved Domains (3) summary
      PTZ00487
      Location:100729
      PTZ00487; ceramidase; Provisional
      pfam04734
      Location:102608
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
      pfam17048
      Location:620728
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
    2. XM_017016435.1XP_016871924.1  neutral ceramidase isoform X2

    3. XM_011539972.2XP_011538274.1  neutral ceramidase isoform X4

      Conserved Domains (3) summary
      PTZ00487
      Location:100719
      PTZ00487; ceramidase; Provisional
      pfam04734
      Location:102549
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
      pfam17048
      Location:551718
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
    4. XM_011539970.2XP_011538272.1  neutral ceramidase isoform X1

      See identical proteins and their annotated locations for XP_011538272.1

      UniProtKB/Swiss-Prot
      Q9NR71
      Conserved Domains (3) summary
      PTZ00487
      Location:100778
      PTZ00487; ceramidase; Provisional
      pfam04734
      Location:102608
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal
      pfam17048
      Location:610777
      Ceramidse_alk_C; Neutral/alkaline non-lysosomal ceramidase, C-terminal
    5. XM_017016436.1XP_016871925.1  neutral ceramidase isoform X6

      Related
      ENSP00000476827.1, OTTHUMP00000274484, ENST00000489640.5, OTTHUMT00000346922
    6. XM_011539973.2XP_011538275.1  neutral ceramidase isoform X5

      Conserved Domains (1) summary
      pfam04734
      Location:102608
      Ceramidase_alk; Neutral/alkaline non-lysosomal ceramidase, N-terminal

    RNA

    1. XR_945787.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      52228873..52290233 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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