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

Gene ID: 427, updated on 21-Jun-2020

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

Genomic context

See ASAH1 in Genome Data Viewer
Location:
8p22
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (18055992..18084961, 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 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 
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 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)

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.

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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