AOAH (acyloxyacyl hydrolase)

Gene

• Entrez ID: 313
• Gene name: Acyloxyacyl hydrolase
• Gene symbol: AOAH
• Synonyms (NCBI Gene): -
• Chromosome: 7
• Chromosome location: 7p14.2
• 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 pr

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	29343645
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IDA	1883828, 29343645
GO:0008653	Process	Lipopolysaccharide metabolic process	IEA
GO:0009104	Process	Lipopolysaccharide catabolic process	IBA
GO:0009104	Process	Lipopolysaccharide catabolic process	IDA	1883828, 29343645
GO:0016787	Function	Hydrolase activity	IEA
GO:0016788	Function	Hydrolase activity, acting on ester bonds	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050528	Function	Acyloxyacyl hydrolase activity	IBA
GO:0050528	Function	Acyloxyacyl hydrolase activity	IDA	1883828, 29343645
GO:0050528	Function	Acyloxyacyl hydrolase activity	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IBA
GO:0050728	Process	Negative regulation of inflammatory response	IEA

Other IDs

• MIM: 102593
• HGNC: 548
• e!Ensembl: ENSG00000136250

Protein

• UniProt ID: P28039
• Protein name: Acyloxyacyl hydrolase (EC 3.1.1.77) [Cleaved into: Acyloxyacyl hydrolase small subunit; Acyloxyacyl hydrolase large subunit]
• Protein function: Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides (PubMed:1883828, PubMed:29343645, PubMed:8089145). By breaking down LPS, terminates the host response to bacterial infection an
• PDB: 5W78, 5W7C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03489	SapB_2	81 → 114	Saposin-like type B, region 2	Family
  PF00657	Lipase_GDSL	257 → 543	GDSL-like Lipase/Acylhydrolase	Family

• Sequence:

  MQSPWKILTVAPLFLLLSLQSSASPANDDQSRPSLSNGHTCVGCVLVVSVIEQLAQVHNS
  TVQASMERLCSYLPEKLFLKTTCYLVIDKFGSDIIKLLSADMNADVVCHTLEFCKQNTGQ
  PLCHLYPLPKETWKFTLQKARQIVKKSPILKYSRSGSDICSLPVLAKICQKIKLAMEQSV
  PFKDVDSDKYSVFPTLRGYHWRGRDCNDSDESVYPGRRPNNWDVHQDSNCNGIWGVDPKD
  GVPYEKKFCEGSQPRGIILLGDSAGAHFHISPEWITASQMSLNSFINLPTALTNELDWPQ
  LSGATGFLDSTVGIKEKSIYLRLWKRNHCNHRDYQNISRNGASSRNLKKFIESLSRNKVL
  DYPAIVIYAMIGNDVCSGKSDPVPAMTTPEKLYSNVMQTLKHLNSHLPNGSHVILYGLPD
  GTFLWDNLHNRYHPLGQLNKDMTYAQLYSFLNCLQVSPCHGWMSSNKTLRTLTSERAEQL
  SNTLKKIAASEKFTNFNLFYMDFAFHEIIQEWQKRGGQPWQLIEPVDGFHPNEVALLLLA
  DHFWKKVQLQWPQILGKENPFNPQIKQVFGDQGGH

• Sequence length: 575

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Allergic Fungal Sinusitis	Associate	22723975	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Associate	21829388	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	22723975	★☆☆☆☆ Found in Text Mining only
Lumbar Stenosis Familial	Associate	34020649	★☆☆☆☆ Found in Text Mining only
Pterygium	Associate	40033254	★☆☆☆☆ Found in Text Mining only