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

    Gene ID: 27163, updated on 2-Nov-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 DNA-binding transcription factor binding activity and hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides. Involved in several processes, including N-acylethanolamine metabolic process; N-acylphosphatidylethanolamine metabolic process; and sphingosine metabolic process. Located in lysosome and membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in prostate (RPKM 15.8), colon (RPKM 14.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NAAA in Genome Data Viewer
    Location:
    4q21.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (75910655..75941013, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (79251154..79281501, complement)
    RS_2024_09 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 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 human endogenous long terminal repeat provides a polyadenylation signal to a novel, alternatively spliced transcript in normal placenta. Goodchild NL, et al. Gene, 1992 Nov 16. PMID 1446826
    3. Elevation of the level and activity of acid ceramidase in Alzheimer's disease brain. Huang Y, et al. Eur J Neurosci, 2004 Dec. PMID 15610181
    4. Overexpression and mass spectrometry analysis of mature human acid ceramidase. Schulze H, et al. Biol Chem, 2007 Dec. PMID 18020949
    5. Expression and secretion of N-acylethanolamine-hydrolysing acid amidase in human prostate cancer cells. Wang J, et al. J Biochem, 2008 Nov. PMID 18806270

    See all (29) 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)

    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 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_2024_08

    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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