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

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; 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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Acid ceramidase promotes senescent cell survival.
Title: Acid ceramidase promotes senescent cell survival.
Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal Cancer.
Title: Targeting Acid Ceramidase to Improve the Radiosensitivity of Rectal Cancer.
Farber disease in a patient from China.
Title: Farber disease in a patient from China.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Farber lipogranulomatosis MedGen: C0268255 OMIM: 228000 GeneReviews: ASAH1-Related Disorders	Compare labs
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome MedGen: C1834569 OMIM: 159950 GeneReviews: ASAH1-Related Disorders	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

D8S2080 (e-PCR)
- UniSTS:43566

D8S2114 (e-PCR)
- UniSTS:27209

D8S1586 (e-PCR)
- UniSTS:37707

D8S1341E (e-PCR)
- UniSTS:151161

RH11700 (e-PCR)
- UniSTS:18148

SHGC-170029 (e-PCR)
- UniSTS:184819

RH94375 (e-PCR)
- UniSTS:87547

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 more info	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 membrane	IEA Inferred from Electronic Annotation more info
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

EC 3.5.1.109

EC 3.5.1.23

NP_001350672.1

EC 3.5.1.109

EC 3.5.1.23

NP_004306.3

EC 3.5.1.109

EC 3.5.1.23

NP_808592.2

EC 3.5.1.109

EC 3.5.1.23

XP_005273561.1

EC 3.5.1.109

EC 3.5.1.23

XP_054216454.1

EC 3.5.1.109

EC 3.5.1.23

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

NG_008985.2 RefSeqGene

Range

5892..34007

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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
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 ...
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

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

18055992..18084961 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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