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

Gene ID: 427, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:735
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
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Genomic context

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See ASAH1 in Genome Data Viewer
Location:
8p22
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (18055992..18084961, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (18323470..18352414, complement)
RS_2024_09 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 uncharacterized LOC124901867 Neighboring gene Sharpr-MPRA regulatory region 9839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27049 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27050 Neighboring gene pericentriolar material 1 Neighboring gene uncharacterized LOC124901894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:17911125-17911698 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17942063-17942598 Neighboring gene ASAH1 antisense RNA 1 Neighboring gene ABRAXAS1 pseudogene 2 Neighboring gene MRPS18C pseudogene 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Polyarticular Arthritis and Spinal Muscular Atrophy in Acid Ceramidase Deficiency. Teoh HL, et al. Pediatrics, 2016 Oct. PMID 27650050
  2. Proteomic profiling of rectal cancer reveals acid ceramidase is implicated in radiation response. Bowden DL, et al. J Proteomics, 2018 May 15. PMID 29518574
  3. Acid ceramidase as a therapeutic target in metastatic prostate cancer. Camacho L, et al. J Lipid Res, 2013 May. PMID 23423838, Free PMC Article
  4. The value of detection of S100A8 and ASAH1 in predicting the chemotherapy response for breast cancer patients. Li YH, et al. Hum Pathol, 2018 Apr. PMID 29320752
  5. Endogenous acid ceramidase protects epithelial cells from Porphyromonas gingivalis-induced inflammation in vitro. Azuma MM, et al. Biochem Biophys Res Commun, 2018 Jan 22. PMID 29278706, Free PMC Article

See all (119) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.
    Title: Acid Ceramidase Deficiency: Bridging Gaps between Clinical Presentation, Mouse Models, and Future Therapeutic Interventions.
  2. N-acylsphingosine amidohydrolase 1 promotes melanoma growth and metastasis by suppressing peroxisome biogenesis-induced ROS production.
    Title: N-acylsphingosine amidohydrolase 1 promotes melanoma growth and metastasis by suppressing peroxisome biogenesis-induced ROS production.
  3. The interaction of ASAH1 and NGF gene involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility and psychopathology.
    Title: The interaction of ASAH1 and NGF gene involving in neurotrophin signaling pathway contributes to schizophrenia susceptibility and psychopathology.
  4. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
    Title: ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
  5. ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
    Title: ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.
  6. Acid ceramidase promotes senescent cell survival.
    Title: Acid ceramidase promotes senescent cell survival.
  7. Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal Cancer.
    Title: Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal Cancer.
  8. Farber disease in a patient from China.
    Title: Farber disease in a patient from China.
  9. Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
    Title: Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.
  10. Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
    Title: Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study on obesity and obesity-related traits.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ21558, FLJ22079

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acylsphingosine amidohydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables N-acylsphingosine amidohydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables N-acylsphingosine amidohydrolase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables fatty acid amide hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IDA
Inferred from Direct Assay
more info
 PubMed 
enables nuclear receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transcription corepressor activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to tumor necrosis factor ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in ceramide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ceramide catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in ceramide catabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in keratinocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of programmed necrotic cell death ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of steroid biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sphingosine biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sphingosine biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
NOT located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
NOT located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in tertiary granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
acid ceramidase
Names
N-acylethanolamine hydrolase ASAH1
N-acylsphingosine amidohydrolase (acid ceramidase) 1
acid CDase
acylsphingosine deacylase
glycosylceramide deacylase
putative 32 kDa heart protein
NP_001120977.1
NP_001350672.1
NP_004306.3
NP_808592.2
XP_005273561.1
XP_054216454.1

NCBI Reference Sequences (RefSeq)

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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
    5892..34007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127505.3 → NP_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/TrEMBL
    A0A1B0GTZ5
    Related
    ENSP00000326970.10, ENST00000314146.10
    Conserved Domains (1) summary
    cd01903
    Location:128 → 373
    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 ...

  2. NM_001363743.2 → NP_001350672.1  acid ceramidase isoform d

    Status: REVIEWED

    Source sequence(s)
    AC124242
    Consensus CDS
    CCDS87583.1
    UniProtKB/TrEMBL
    A0A1B0GUE3, B3KUZ6
    Related
    ENSP00000490725.1, ENST00000636691.1
    Conserved Domains (2) summary
    cd01903
    Location:69 → 314
    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:1 → 43
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  3. NM_004315.6 → NP_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/TrEMBL
    A0A1B0GTZ5
    Related
    ENSP00000371152.4, ENST00000381733.9
    Conserved Domains (1) summary
    cd01903
    Location:150 → 395
    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 ...

  4. NM_177924.5 → NP_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
    E9PDS0, Q13510, Q6W898, Q96AS2
    UniProtKB/TrEMBL
    A0A1B0GUH5
    Related
    ENSP00000490272.1, ENST00000637790.2
    Conserved Domains (2) summary
    cd01903
    Location:134 → 379
    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:45 → 108
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005273504.4 → XP_005273561.1  acid ceramidase isoform X1

    UniProtKB/TrEMBL
    A0A1B0GUH5
    Conserved Domains (2) summary
    cd01903
    Location:112 → 357
    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:23 → 117
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    18323470..18352414 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360479.1 → XP_054216454.1  acid ceramidase isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13510.5 GenPept UniProtKB/Swiss-Prot:Q13510

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