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NAAA N-acylethanolamine acid amidase [ Homo sapiens (human) ]

Gene ID: 27163, updated on 5-Mar-2024

Summary

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Official Symbol
NAAAprovided by HGNC
Official Full Name
N-acylethanolamine acid amidaseprovided by HGNC
Primary source
HGNC:HGNC:736
See related
Ensembl:ENSG00000138744 MIM:607469; AllianceGenome:HGNC:736
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
PLT; ASAHL
Summary
Enables N-(long-chain-acyl)ethanolamine deacylase activity; N-acylsphingosine amidohydrolase activity; and fatty acid amide hydrolase activity. Involved in several processes, including N-acylethanolamine metabolic process; N-acylphosphatidylethanolamine metabolic process; and sphingosine metabolic process. Located in lysosome. Is extrinsic component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in prostate (RPKM 15.8), colon (RPKM 14.0) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
4q21.1
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (75910655..75941013, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (79251154..79281501, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (76831808..76862166, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377284 Neighboring gene RNA, U2 small nuclear 16, pseudogene Neighboring gene protein phosphatase with EF-hand domain 2 Neighboring gene uncharacterized LOC105377285 Neighboring gene Sharpr-MPRA regulatory region 11706 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:76829825-76830747 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:76830748-76831669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15484 Neighboring gene SDA1 domain containing 1 Neighboring gene SDAD1 antisense RNA 1 Neighboring gene C-X-C motif chemokine ligand 9

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
  • 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. Insights Into the Prognostic Value and Immunological Role of NAAA in Pan-Cancer. Huang D, et al. Front Immunol, 2021. PMID 35069601, Free PMC Article
  2. A quantitative study on splice variants of N-acylethanolamine acid amidase in human prostate cancer cells and other cells. Sakura Y, et al. Biochim Biophys Acta, 2016 Dec. PMID 27693242
  3. Mass spectrometric characterization of human N-acylethanolamine-hydrolyzing acid amidase. West JM, et al. J Proteome Res, 2012 Feb 3. PMID 22040171, Free PMC Article
  4. Expression and secretion of N-acylethanolamine-hydrolysing acid amidase in human prostate cancer cells. Wang J, et al. J Biochem, 2008 Nov. PMID 18806270
  5. Overexpression and mass spectrometry analysis of mature human acid ceramidase. Schulze H, et al. Biol Chem, 2007 Dec. PMID 18020949

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Insights Into the Prognostic Value and Immunological Role of NAAA in Pan-Cancer.
    Title: Insights Into the Prognostic Value and Immunological Role of NAAA in Pan-Cancer.
  2. The rs2276886 SNP was found to be significantly associated with Hashimoto's Thyroiditis susceptibility. However, our findings suggest that this SNP which maps to the chromosomal region 4q21.1 likely effects the NAAA gene (as opposed to the CXCL9 gene), but still contributes to the susceptibility to Hashimoto's Thyroiditis in Han Chinese populations.
    Title: Genetic Polymorphisms on 4q21.1 Contributed to the Risk of Hashimoto's Thyroiditis.
  3. Variants a1 and a2 encoded the same full-length NAAA protein.
    Title: A quantitative study on splice variants of N-acylethanolamine acid amidase in human prostate cancer cells and other cells.
  4. The results suggest that N-acylethanolamine acid amidase and protein tyrosine kinase 7 may be used as potential tissue biomarkers to avoid overtreatment of non-aggressive prostate cancer
    Title: Glycoproteomic analysis of prostate cancer tissues by SWATH mass spectrometry discovers N-acylethanolamine acid amidase and protein tyrosine kinase 7 as signatures for tumor aggressiveness.
  5. MALDI-TOF MS analysis of the human NAAA zymogen (47.7 kDa) treated with peptide-N-glycosidase F (PNGase F) identified 4 glycosylation sites, and acid cleavage of the zymogen into alpha- and beta-subunits (14.6 and 33.3 kDa) activated the enzyme.
    Title: Mass spectrometric characterization of human N-acylethanolamine-hydrolyzing acid amidase.
  6. These results showed that both N-acylethanolamine-hydrolysing acid amidase and fatty acid amide hydrolase are functionally active in human prostate cancer cells.
    Title: Expression and secretion of N-acylethanolamine-hydrolysing acid amidase in human prostate cancer cells.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa.
  8. Asn-37, Asn-107, Asn-309, and Asn-333 are actual N-glycosylation sites. The glycosylation appeared to play an important role in stabilizing the enzyme protein.
    Title: Proteolytic activation and glycosylation of N-acylethanolamine-hydrolyzing acid amidase, a lysosomal enzyme involved in the endocannabinoid metabolism.
  9. we describe the overexpression and processing of recombinant human acid ceramidase in insect cells, its purification and characterization
    Title: Overexpression and mass spectrometry analysis of mature human acid ceramidase.
  10. The level and activity of acid ceramidase in Alzheimer disease (AD) brain may play a role in controlling neuronal apoptosis and may mediate signalling pathways involved in the molecular mechanism of AD.
    Title: Elevation of the level and activity of acid ceramidase in Alzheimer's disease brain.
Submit: New GeneRIF Correction

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

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables N-(long-chain-acyl)ethanolamine deacylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables N-acylsphingosine amidohydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ceramidase activity IEA
Inferred from Electronic Annotation
more info
  
enables fatty acid amide hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IBA
Inferred from Biological aspect of Ancestor
more info
  
enables hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in N-acylethanolamine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in N-acylphosphatidylethanolamine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in sphingosine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in lysosomal lumen TAS
Traceable Author Statement
more info
  
located_in lysosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
N-acylethanolamine-hydrolyzing acid amidase
Names
ASAH-like protein
acid ceramidase-like protein
acylsphingosine deacylase NAAA
NP_001035861.1
NP_001350648.1
NP_055250.2
XP_005262978.1
XP_005262980.1
XP_005262981.1
XP_006714243.1
XP_011530154.1
XP_011530156.1
XP_016863517.1
XP_016863518.1
XP_016863519.1
XP_047306023.1
XP_054205659.1
XP_054205660.1
XP_054205661.1
XP_054205662.1
XP_054205663.1
XP_054205664.1
XP_054205665.1
XP_054205666.1
XP_054205667.1
XP_054205668.1

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.

mRNA and Protein(s)

  1. NM_001042402.2 → NP_001035861.1  N-acylethanolamine-hydrolyzing acid amidase isoform 2 precursor

    See identical proteins and their annotated locations for NP_001035861.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the C-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AB161353, AV723847, BM763257, M92449
    UniProtKB/Swiss-Prot
    Q02083
    Conserved Domains (2) summary
    cd01903
    Location:117 → 323
    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:32 → 91
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  2. NM_001363719.2 → NP_001350648.1  N-acylethanolamine-hydrolyzing acid amidase isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the C-terminus compared to isoform 1. Variants 2 and 3 both encode the same isoform (2).
    Source sequence(s)
    AC110615
    Consensus CDS
    CCDS87233.1
    Related
    ENSP00000427641.1, ENST00000507956.5
    Conserved Domains (2) summary
    cd01903
    Location:117 → 323
    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:32 → 91
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  3. NM_014435.4 → NP_055250.2  N-acylethanolamine-hydrolyzing acid amidase isoform 1 precursor

    See identical proteins and their annotated locations for NP_055250.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB161353, BM682921, BM763257, DR156596, W47597
    Consensus CDS
    CCDS43239.1
    UniProtKB/Swiss-Prot
    Q02083, Q5KTF2, Q96EY2, Q9BRA8
    Related
    ENSP00000286733.4, ENST00000286733.9
    Conserved Domains (2) summary
    cd01903
    Location:117 → 346
    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:32 → 121
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    75910655..75941013 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714180.4 → XP_006714243.1  N-acylethanolamine-hydrolyzing acid amidase isoform X4

    Conserved Domains (2) summary
    cd01903
    Location:117 → 333
    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:32 → 121
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  2. XM_005262924.4 → XP_005262981.1  N-acylethanolamine-hydrolyzing acid amidase isoform X8

    Conserved Domains (2) summary
    cd01903
    Location:117 → 324
    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:32 → 121
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  3. XM_017008030.3 → XP_016863519.1  N-acylethanolamine-hydrolyzing acid amidase isoform X6

    Conserved Domains (2) summary
    cd01903
    Location:117 → 323
    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:32 → 121
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  4. XM_005262923.4 → XP_005262980.1  N-acylethanolamine-hydrolyzing acid amidase isoform X7

    Conserved Domains (2) summary
    cd01903
    Location:117 → 333
    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:32 → 121
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  5. XM_017008028.3 → XP_016863517.1  N-acylethanolamine-hydrolyzing acid amidase isoform X1

    UniProtKB/Swiss-Prot
    Q02083, Q5KTF2, Q96EY2, Q9BRA8
    Conserved Domains (2) summary
    cd01903
    Location:117 → 346
    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:32 → 121
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  6. XM_047450067.1 → XP_047306023.1  N-acylethanolamine-hydrolyzing acid amidase isoform X6

  7. XM_011531854.4 → XP_011530156.1  N-acylethanolamine-hydrolyzing acid amidase isoform X9

    Conserved Domains (2) summary
    cd01903
    Location:117 → 323
    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:32 → 121
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  8. XM_011531852.4 → XP_011530154.1  N-acylethanolamine-hydrolyzing acid amidase isoform X3

    Conserved Domains (2) summary
    cd01903
    Location:117 → 334
    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:32 → 121
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  9. XM_005262921.5 → XP_005262978.1  N-acylethanolamine-hydrolyzing acid amidase isoform X5

    Conserved Domains (2) summary
    cd01903
    Location:117 → 334
    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:32 → 121
    NAAA-beta; beta subunit of N-acylethanolamine-hydrolyzing acid amidase

  10. XM_017008029.3 → XP_016863518.1  N-acylethanolamine-hydrolyzing acid amidase isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    79251154..79281501 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349687.1 → XP_054205662.1  N-acylethanolamine-hydrolyzing acid amidase isoform X4

  2. XM_054349692.1 → XP_054205667.1  N-acylethanolamine-hydrolyzing acid amidase isoform X8

  3. XM_054349690.1 → XP_054205665.1  N-acylethanolamine-hydrolyzing acid amidase isoform X6

  4. XM_054349691.1 → XP_054205666.1  N-acylethanolamine-hydrolyzing acid amidase isoform X7

  5. XM_054349684.1 → XP_054205659.1  N-acylethanolamine-hydrolyzing acid amidase isoform X1

    UniProtKB/Swiss-Prot
    Q02083, Q5KTF2, Q96EY2, Q9BRA8

  6. XM_054349689.1 → XP_054205664.1  N-acylethanolamine-hydrolyzing acid amidase isoform X6

  7. XM_054349693.1 → XP_054205668.1  N-acylethanolamine-hydrolyzing acid amidase isoform X9

  8. XM_054349686.1 → XP_054205661.1  N-acylethanolamine-hydrolyzing acid amidase isoform X3

  9. XM_054349688.1 → XP_054205663.1  N-acylethanolamine-hydrolyzing acid amidase isoform X5

  10. XM_054349685.1 → XP_054205660.1  N-acylethanolamine-hydrolyzing acid amidase isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02083.3 GenPept UniProtKB/Swiss-Prot:Q02083

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