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    AOAH acyloxyacyl hydrolase [ Homo sapiens (human) ]

    Gene ID: 313, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AOAHprovided by HGNC
    Official Full Name
    acyloxyacyl hydrolaseprovided by HGNC
    Primary source
    HGNC:HGNC:548
    See related
    Ensembl:ENSG00000136250 MIM:102593; AllianceGenome:HGNC:548
    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
    Summary
    This locus encodes both the light and heavy subunits of acyloxyacyl hydrolase. The encoded enzyme catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides, effectively detoxifying these molecules. The encoded protein may play a role in modulating host inflammatory response to gram-negative bacteria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Apr 2010]
    Expression
    Biased expression in spleen (RPKM 9.9), appendix (RPKM 5.8) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See AOAH in Genome Data Viewer
    Location:
    7p14.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (36512941..36724494, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (36653265..36864869, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (36552549..36764099, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18100 Neighboring gene NANOG hESC enhancer GRCh37_chr7:36197697-36198217 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36254183-36255020 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36255021-36255856 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:36285803-36286305 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36297422-36298230 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36298231-36299037 Neighboring gene endonuclease/exonuclease/phosphatase family domain containing 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36320693-36321354 Neighboring gene Sharpr-MPRA regulatory region 9097 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36351141-36351658 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:36399716-36400433 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18101 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:36429707-36430297 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:36429116-36429706 Neighboring gene microtubule associated tyrosine carboxypeptidase 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:36544967-36546166 Neighboring gene NFE2L2 motif-containing MPRA enhancer 148 Neighboring gene anillin, actin binding protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98398 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:36655105-36655606 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:36693505-36694049 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:36701053-36701595 Neighboring gene AOAH intronic transcript 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:36802118-36803317 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25844 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:36894293-36894794 Neighboring gene NANOG hESC enhancer GRCh37_chr7:36908573-36909127 Neighboring gene uncharacterized LOC105375235 Neighboring gene nucleophosmin 1 pseudogene 18 Neighboring gene engulfment and cell motility 1

    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. Intracellular and extracellular enzymatic deacylation of bacterial endotoxin during localized inflammation induced by Escherichia coli. McDermott CM, et al. Infect Immun, 1991 Feb. PMID 1987068, Free PMC Article
    2. Chromosomal localization of the acyloxyacyl hydrolase (AOAH) gene to 7p14-p12 using fluorescence in situ hybridization. Whitmore TE, et al. Genomics, 1994 May 15. PMID 8088847
    3. A saposin-like domain influences the intracellular localization, stability, and catalytic activity of human acyloxyacyl hydrolase. Staab JF, et al. J Biol Chem, 1994 Sep 23. PMID 8089145
    4. Adenovirus-mediated transfer of a gene encoding acyloxyacyl hydrolase (AOAH) into mice increases tissue and plasma AOAH activity. Coulthard MG, et al. Infect Immun, 1996 May. PMID 8613354, Free PMC Article
    5. Expression and characterization of recombinant human acyloxyacyl hydrolase, a leukocyte enzyme that deacylates bacterial lipopolysaccharides. Hagen FS, et al. Biochemistry, 1991 Aug 27. PMID 1883828

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Acyloxyacyl Hydrolase Protects against Kidney Injury via Inhibition of Tubular CD74-Macrophage Crosstalk.
      Title: Acyloxyacyl Hydrolase Protects against Kidney Injury via Inhibition of Tubular CD74-Macrophage Crosstalk.
    2. analysis of AOAH function through its crystal structure and complex with lipopolysaccharide
      Title: Crystal structure of the mammalian lipopolysaccharide detoxifier.
    3. AOAH - Gene involved in innate immunity that have been associated with Chronic Rhinosinusitis.
      Title: Genetic and Immune Dysregulation in Chronic Rhinosinusitis.
    4. AOAH rs60023210 variants may be associated with carotid intima-media thickness at bifurcation.
      Title: Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation.
    5. Polymorphisms in RYBP and AOAH genes are associated with chronic rhinosinusitis in a Chinese population.
      Title: Polymorphisms in RYBP and AOAH genes are associated with chronic rhinosinusitis in a Chinese population: a replication study.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    8. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Polymorphisms in the novel gene acyloxyacyl hydroxylase (AOAH) are associated with asthma and associated phenotypes.
    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

    EBI GWAS Catalog

    Description
    Host determinants of HIV-1 control in African Americans.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    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 acyloxyacyl hydrolase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acyloxyacyl hydrolase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in lipopolysaccharide catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lipopolysaccharide catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    acyloxyacyl hydrolase
    Names
    acyloxyacyl hydrolase (neutrophil)
    NP_001170977.1
    NP_001170978.1
    NP_001628.1
    XP_011513635.1
    XP_011513636.1
    XP_011513637.1
    XP_011513638.1
    XP_011513640.1
    XP_011513641.1
    XP_011513642.1
    XP_011513643.1
    XP_011513644.1
    XP_016867591.1
    XP_016867593.1
    XP_016867594.1
    XP_047276253.1
    XP_054214018.1
    XP_054214019.1
    XP_054214020.1
    XP_054214021.1
    XP_054214022.1
    XP_054214023.1
    XP_054214024.1
    XP_054214025.1
    XP_054214026.1
    XP_054214027.1
    XP_054214028.1
    XP_054214029.1
    XP_054214030.1

    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_001177506.2 → NP_001170977.1  acyloxyacyl hydrolase isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) includes an alternate exon in the 3' coding region compared to variant 1, which results in a frameshift. The resulting protein (isoform 2) is longer and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC087069, AK308215, BC025698, BP310596, KF454909
      Consensus CDS
      CCDS75584.1
      UniProtKB/TrEMBL
      A0A087WVT3
      Related
      ENSP00000479664.1, ENST00000617267.5
      Conserved Domains (4) summary
      smart00741
      Location:40 → 114
      SapB; Saposin (B) Domains
      cd01826
      Location:244 → 543
      acyloxyacyl_hydrolase_like; Acyloxyacyl-hydrolase like subfamily of the SGNH-hydrolase family. Acyloxyacyl-hydrolase is a leukocyte-secreted enzyme that deacetylates bacterial lipopolysaccharides.
      pfam03489
      Location:83 → 114
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:205 → 233
      Cu-binding_MopE; Putative metal-binding motif

    2. NM_001177507.2 → NP_001170978.1  acyloxyacyl hydrolase isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001170978.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AK297016, BP310596, CR748867
      Consensus CDS
      CCDS55102.1
      UniProtKB/Swiss-Prot
      P28039
      Related
      ENSP00000484305.1, ENST00000612871.4
      Conserved Domains (4) summary
      smart00741
      Location:45 → 82
      SapB; Saposin (B) Domains
      cd01826
      Location:212 → 514
      acyloxyacyl_hydrolase_like; Acyloxyacyl-hydrolase like subfamily of the SGNH-hydrolase family. Acyloxyacyl-hydrolase is a leukocyte-secreted enzyme that deacetylates bacterial lipopolysaccharides.
      pfam03489
      Location:51 → 82
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:173 → 201
      Cu-binding_MopE; Putative metal-binding motif

    3. NM_001637.4 → NP_001628.1  acyloxyacyl hydrolase isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_001628.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      BC025698, BP310596, CR748867
      Consensus CDS
      CCDS5448.1
      UniProtKB/Swiss-Prot
      A4D1Y5, B7Z490, P28039, Q53F13
      Related
      ENSP00000483783.1, ENST00000617537.5
      Conserved Domains (3) summary
      smart00741
      Location:40 → 114
      SapB; Saposin (B) Domains
      cd01826
      Location:244 → 546
      acyloxyacyl_hydrolase_like; Acyloxyacyl-hydrolase like subfamily of the SGNH-hydrolase family. Acyloxyacyl-hydrolase is a leukocyte-secreted enzyme that deacetylates bacterial lipopolysaccharides.
      pfam11617
      Location:205 → 233
      Cu-binding_MopE; Putative metal-binding motif

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      36512941..36724494 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515334.3 → XP_011513636.1  acyloxyacyl hydrolase isoform X2

      Conserved Domains (4) summary
      smart00741
      Location:45 → 82
      SapB; Saposin (B) Domains
      cd01826
      Location:212 → 511
      acyloxyacyl_hydrolase_like; Acyloxyacyl-hydrolase like subfamily of the SGNH-hydrolase family. Acyloxyacyl-hydrolase is a leukocyte-secreted enzyme that deacetylates bacterial lipopolysaccharides.
      pfam03489
      Location:51 → 82
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:173 → 201
      Cu-binding_MopE; Putative metal-binding motif

    2. XM_017012102.3 → XP_016867591.1  acyloxyacyl hydrolase isoform X6

    3. XM_011515333.3 → XP_011513635.1  acyloxyacyl hydrolase isoform X1

      Conserved Domains (4) summary
      smart00741
      Location:40 → 114
      SapB; Saposin (B) Domains
      pfam03489
      Location:83 → 114
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:205 → 233
      Cu-binding_MopE; Putative metal-binding motif
      cl01053
      Location:244 → 518
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...

    4. XM_011515336.3 → XP_011513638.1  acyloxyacyl hydrolase isoform X4

      Conserved Domains (4) summary
      smart00741
      Location:40 → 114
      SapB; Saposin (B) Domains
      cd01826
      Location:244 → 540
      acyloxyacyl_hydrolase_like; Acyloxyacyl-hydrolase like subfamily of the SGNH-hydrolase family. Acyloxyacyl-hydrolase is a leukocyte-secreted enzyme that deacetylates bacterial lipopolysaccharides.
      pfam03489
      Location:83 → 114
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:205 → 233
      Cu-binding_MopE; Putative metal-binding motif

    5. XM_011515335.3 → XP_011513637.1  acyloxyacyl hydrolase isoform X3

      Conserved Domains (4) summary
      smart00741
      Location:3 → 73
      SapB; Saposin (B) Domains
      cd01826
      Location:203 → 502
      acyloxyacyl_hydrolase_like; Acyloxyacyl-hydrolase like subfamily of the SGNH-hydrolase family. Acyloxyacyl-hydrolase is a leukocyte-secreted enzyme that deacetylates bacterial lipopolysaccharides.
      pfam03489
      Location:42 → 73
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:164 → 192
      Cu-binding_MopE; Putative metal-binding motif

    6. XM_017012105.2 → XP_016867594.1  acyloxyacyl hydrolase isoform X11

    7. XM_011515342.3 → XP_011513644.1  acyloxyacyl hydrolase isoform X13

      Conserved Domains (1) summary
      cl01053
      Location:6 → 266
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...

    8. XM_047420297.1 → XP_047276253.1  acyloxyacyl hydrolase isoform X5

    9. XM_017012104.1 → XP_016867593.1  acyloxyacyl hydrolase isoform X9

    10. XM_011515338.3 → XP_011513640.1  acyloxyacyl hydrolase isoform X7

      Conserved Domains (4) summary
      smart00741
      Location:40 → 114
      SapB; Saposin (B) Domains
      cd01826
      Location:244 → 533
      acyloxyacyl_hydrolase_like; Acyloxyacyl-hydrolase like subfamily of the SGNH-hydrolase family. Acyloxyacyl-hydrolase is a leukocyte-secreted enzyme that deacetylates bacterial lipopolysaccharides.
      pfam03489
      Location:83 → 114
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:205 → 233
      Cu-binding_MopE; Putative metal-binding motif

    11. XM_011515339.3 → XP_011513641.1  acyloxyacyl hydrolase isoform X8

      Conserved Domains (4) summary
      smart00741
      Location:40 → 114
      SapB; Saposin (B) Domains
      pfam03489
      Location:83 → 114
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:205 → 233
      Cu-binding_MopE; Putative metal-binding motif
      cl01053
      Location:244 → 515
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...

    12. XM_011515340.3 → XP_011513642.1  acyloxyacyl hydrolase isoform X10

      Conserved Domains (4) summary
      smart00741
      Location:40 → 114
      SapB; Saposin (B) Domains
      pfam03489
      Location:83 → 114
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:205 → 233
      Cu-binding_MopE; Putative metal-binding motif
      cl01053
      Location:244 → 507
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...

    13. XM_011515341.3 → XP_011513643.1  acyloxyacyl hydrolase isoform X12

      Conserved Domains (4) summary
      smart00741
      Location:40 → 114
      SapB; Saposin (B) Domains
      pfam03489
      Location:83 → 114
      SapB_2; Saposin-like type B, region 2
      pfam11617
      Location:205 → 233
      Cu-binding_MopE; Putative metal-binding motif
      cl01053
      Location:244 → 435
      SGNH_hydrolase; SGNH_hydrolase, or GDSL_hydrolase, is a diverse family of lipases and esterases. The tertiary fold of the enzyme is substantially different from that of the alpha/beta hydrolase family and unique among all known hydrolases; its active site closely ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      36653265..36864869 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358044.1 → XP_054214019.1  acyloxyacyl hydrolase isoform X2

    2. XM_054358048.1 → XP_054214023.1  acyloxyacyl hydrolase isoform X6

    3. XM_054358043.1 → XP_054214018.1  acyloxyacyl hydrolase isoform X1

    4. XM_054358046.1 → XP_054214021.1  acyloxyacyl hydrolase isoform X4

    5. XM_054358045.1 → XP_054214020.1  acyloxyacyl hydrolase isoform X3

    6. XM_054358053.1 → XP_054214028.1  acyloxyacyl hydrolase isoform X11

    7. XM_054358055.1 → XP_054214030.1  acyloxyacyl hydrolase isoform X13

    8. XM_054358047.1 → XP_054214022.1  acyloxyacyl hydrolase isoform X5

    9. XM_054358051.1 → XP_054214026.1  acyloxyacyl hydrolase isoform X9

    10. XM_054358049.1 → XP_054214024.1  acyloxyacyl hydrolase isoform X7

    11. XM_054358050.1 → XP_054214025.1  acyloxyacyl hydrolase isoform X8

    12. XM_054358052.1 → XP_054214027.1  acyloxyacyl hydrolase isoform X10

    13. XM_054358054.1 → XP_054214029.1  acyloxyacyl hydrolase isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P28039.1 GenPept UniProtKB/Swiss-Prot:P28039

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