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

    Gene ID: 427, updated on 10-Apr-2021

    Summary

    Official Symbol
    ASAH1provided by HGNC
    Official Full Name
    N-acylsphingosine amidohydrolase 1provided by HGNC
    Primary source
    HGNC:HGNC:735
    See related
    Ensembl:ENSG00000104763 MIM:613468
    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]
    Expression
    Broad expression in thyroid (RPKM 225.8), heart (RPKM 191.4) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ASAH1 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    109.20210226 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (18055992..18084961, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17913501..17942470, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene fibrinogen like 1 Neighboring gene pericentriolar material 1 Neighboring gene uncharacterized LOC101929066 Neighboring gene abraxas 1, BRCA1 A complex subunit pseudogene Neighboring gene MRPS18C pseudogene 3

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21558, FLJ22079

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cellular response to tumor necrosis factor ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ceramide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ceramide catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ceramide catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glycosphingolipid metabolic process TAS
    Traceable Author Statement
    more info
     
    keratinocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    regulation of programmed necrotic cell death ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of steroid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sphingosine biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sphingosine biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    NOT early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    acid ceramidase
    Names
    N-acylethanolamine hydrolase ASAH1
    N-acylsphingosine amidohydrolase (acid ceramidase) 1
    acid CDase
    acylsphingosine deacylase
    putative 32 kDa heart protein
    NP_001120977.1
    NP_001350672.1
    NP_004306.3
    NP_808592.2
    XP_005273561.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008985.2 RefSeqGene

      Range
      5038..34007
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127505.3NP_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)
      AC124242, AI241768, AK222780, AK289481, AY305384, BC016828, BU633536, DA260852
      Consensus CDS
      CCDS47813.1
      UniProtKB/Swiss-Prot
      Q13510
      UniProtKB/TrEMBL
      A8K0B6, Q53H01
      Related
      ENSP00000326970.10, ENST00000314146.10
      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_001363743.2NP_001350672.1  acid ceramidase isoform d

      Status: REVIEWED

      Source sequence(s)
      AC124242
      Consensus CDS
      CCDS87583.1
      Related
      ENSP00000490725.1, ENST00000636691.1
      Conserved Domains (2) summary
      cd01903
      Location:69314
      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:143
      NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase
    3. NM_004315.6NP_004306.3  acid ceramidase isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (b).
      Source sequence(s)
      AC124242, AI241768, AK222780, AK289481, AY305384, BU633536, DA260852
      Consensus CDS
      CCDS6005.1
      UniProtKB/Swiss-Prot
      Q13510
      UniProtKB/TrEMBL
      A8K0B6, Q53H01
      Related
      ENSP00000371152.4, ENST00000381733.9
      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
    4. NM_177924.5NP_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)
      AC124242, AI241768, AK222780, AK289481, AY305384, BU633536, DA260852, DA306573
      Consensus CDS
      CCDS6006.1
      UniProtKB/Swiss-Prot
      Q13510
      UniProtKB/TrEMBL
      A8K0B6, Q53H01
      Related
      ENSP00000490272.1, ENST00000637790.2
      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 Updated Annotation Release 109.20210226

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      18055992..18084961 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273504.3XP_005273561.1  acid ceramidase isoform X1

      Related
      ENSP00000490270.1, ENST00000636815.1
      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
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