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AOAH acyloxyacyl hydrolase [ Homo sapiens (human) ]

Gene ID: 313, updated on 12-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
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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 Variation Viewer (GRCh37.p13)

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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