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    ASAH1 N-acylsphingosine amidohydrolase 1 [ Homo sapiens (human) ]

    Gene ID: 427, updated on 22-Jun-2016
    Official Symbol
    ASAH1provided by HGNC
    Official Full Name
    N-acylsphingosine amidohydrolase 1provided by HGNC
    Primary source
    HGNC:HGNC:735
    See related
    Ensembl:ENSG00000104763 HPRD:01969; MIM:613468; Vega:OTTHUMG00000096997
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AC; PHP; ASAH; PHP32; ACDase; SMAPME
    Summary
    This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]
    Orthologs
    Location:
    8p22
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 8 NC_000008.11 (18056299..18084998, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17913925..17942507, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene fibrinogen like 1 Neighboring gene pericentriolar material 1 Neighboring gene uncharacterized LOC107986867 Neighboring gene uncharacterized LOC101929066 Neighboring gene family with sequence similarity 175 member A pseudogene Neighboring gene mitochondrial ribosomal protein S18C pseudogene 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Farber's lipogranulomatosis
    MedGen: C0268255 OMIM: 228000 GeneReviews: Not available
    Compare labs
    Jankovic Rivera syndrome
    MedGen: C1834569 OMIM: 159950 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study on obesity and obesity-related traits.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of N-acylsphingosine amidohydrolase 1 (ASAH1, acid ceramidase) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    • Ceramide signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Ceramide signaling pathway, organism-specific biosystem
      Ceramide signaling pathway
    • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
      Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Signal Transduction of S1P Receptor, organism-specific biosystem (from WikiPathways)
      Signal Transduction of S1P Receptor, organism-specific biosystemMetabolism of sphingomyelin by the sphingomyelinase, ceramidase (Cer'ase) and the sphingosine kinase (SK) enzymes results in formation of S1P and receptor activation. Autocrine and paracrine modes of...
    • Sphingolipid Metabolism, organism-specific biosystem (from WikiPathways)
      Sphingolipid Metabolism, organism-specific biosystemThe sphingolipid metabolites and genes (with the gene abbreviations shown in boxes, or enzyme names where gene names are ambiguous) are given for the condensation of serine and palmitoyl-CoA to form ...
    • Sphingolipid metabolism, organism-specific biosystem (from KEGG)
      Sphingolipid metabolism, organism-specific biosystem
      Sphingolipid metabolism
    • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
      Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...
    • Sphingolipid metabolism, conserved biosystem (from KEGG)
      Sphingolipid metabolism, conserved biosystem
      Sphingolipid metabolism
    • Sphingolipid signaling pathway, organism-specific biosystem (from KEGG)
      Sphingolipid signaling pathway, organism-specific biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
    • Sphingolipid signaling pathway, conserved biosystem (from KEGG)
      Sphingolipid signaling pathway, conserved biosystemSphingomyelin (SM) and its metabolic products are now known to have second messenger functions in a variety of cellular signaling pathways. Particularly, the sphingolipid metabolites, ceramide (Cer) ...
    • Sphingosine biosynthesis, organism-specific biosystem (from KEGG)
      Sphingosine biosynthesis, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
    • Sphingosine biosynthesis, conserved biosystem (from KEGG)
      Sphingosine biosynthesis, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ21558, FLJ22079

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    catalytic activity TAS
    Traceable Author Statement
    more info
    PubMed 
    ceramidase activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    ceramide metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    glycosphingolipid metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    acid ceramidase
    Names
    N-acylsphingosine amidohydrolase (acid ceramidase) 1
    acid CDase
    acylsphingosine deacylase
    putative 32 kDa heart protein
    NP_001120977.1
    NP_004306.3
    NP_808592.2

    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.

    Genomic

    1. NG_008985.1 RefSeqGene

      Range
      5001..33700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127505.2NP_001120977.1  acid ceramidase isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate in-frame exon and lacks another alternate in-frame exon compared to variant 2. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform b.
      Source sequence(s)
      AI241768, AK222780, AK289481, AY305384, BC016828, BU633536, DA260852
      Consensus CDS
      CCDS47813.1
      UniProtKB/Swiss-Prot
      Q13510
      UniProtKB/TrEMBL
      A8K0B6, Q53H01
      Related
      ENSP00000326970, OTTHUMP00000224670, ENST00000314146, OTTHUMT00000375013
      Conserved Domains (2) summary
      cd01903
      Location:128373
      Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...
      pfam15508
      Location:68133
      NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase
    2. NM_004315.5NP_004306.3  acid ceramidase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (b).
      Source sequence(s)
      AI241768, AK222780, AK289481, AY305384, BU633536, DA260852
      Consensus CDS
      CCDS6005.1
      UniProtKB/Swiss-Prot
      Q13510
      UniProtKB/TrEMBL
      A8K0B6, Q53H01
      Related
      ENSP00000371152, OTTHUMP00000122482, ENST00000381733, OTTHUMT00000214078
      Conserved Domains (2) summary
      cd01903
      Location:150395
      Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...
      pfam15508
      Location:61155
      NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase
    3. NM_177924.4NP_808592.2  acid ceramidase isoform a preproprotein

      See identical proteins and their annotated locations for NP_808592.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 2. The resulting isoform (a) includes a predicted signal peptide, is shorter and has a distinct N-terminus compared to isoform b.
      Source sequence(s)
      AI241768, AK222780, AK289481, AY305384, BU633536, DA260852, DA306573
      Consensus CDS
      CCDS6006.1
      UniProtKB/Swiss-Prot
      Q13510
      UniProtKB/TrEMBL
      A8K0B6, Q53H01
      Related
      ENSP00000262097, OTTHUMP00000122481, ENST00000262097, OTTHUMT00000214077
      Conserved Domains (2) summary
      cd01903
      Location:134379
      Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...
      pfam15508
      Location:45139
      NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

      Range
      18056299..18084998 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273504.3XP_005273561.1  

      Conserved Domains (2) summary
      cd01903
      Location:112357
      Ntn_AC_NAAA; AC_NAAA This conserved domain includes two closely related proteins, acid ceramidase (AC, also known as N-acylsphingosine amidohydrolase), and N-acylethanolamine-hydrolyzing acid amidase (NAAA). AC catalyzes the hydrolysis of ceramide to sphingosine and ...
      pfam15508
      Location:23117
      NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

    Alternate CHM1_1.1

    Genomic

    1. NC_018919.2 Alternate CHM1_1.1

      Range
      18115257..18143960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)