AOAH acyloxyacyl hydrolase [Homo sapiens (human)] - Gene

Summary

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

Location:: 7p14.2

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (36512941..36724494, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (36653265..36864869, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (36552549..36764099, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

analysis of AOAH function through its crystal structure and complex with lipopolysaccharide
Title: Crystal structure of the mammalian lipopolysaccharide detoxifier.
AOAH - Gene involved in innate immunity that have been associated with Chronic Rhinosinusitis.
Title: Genetic and Immune Dysregulation in Chronic Rhinosinusitis.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S781 (e-PCR)
- UniSTS:31028

SHGC-142211 (e-PCR)
- UniSTS:171323

SHGC-154159 (e-PCR)
- UniSTS:177991

AOAH (e-PCR)
- UniSTS:1101

RH17719 (e-PCR)
- UniSTS:43881

SHGC-154227 (e-PCR)
- UniSTS:178026

SHGC-52591 (e-PCR)
- UniSTS:79215

D7S2717 (e-PCR)
- UniSTS:55420

SHGC-33300 (e-PCR)
- UniSTS:63124

SHGC-132818 (e-PCR)
- UniSTS:170907

SHGC-106107 (e-PCR)
- UniSTS:184493

WI-9088 (e-PCR)
- UniSTS:52975

HSC202_(7Gr362mb) (e-PCR)
- UniSTS:255227

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

EC 3.1.1.77

NP_001170978.1

EC 3.1.1.77

NP_001628.1

EC 3.1.1.77

XP_011513635.1

EC 3.1.1.77

XP_011513636.1

EC 3.1.1.77

XP_011513637.1

EC 3.1.1.77

XP_011513638.1

EC 3.1.1.77

XP_011513640.1

EC 3.1.1.77

XP_011513641.1

EC 3.1.1.77

XP_011513642.1

EC 3.1.1.77

XP_011513643.1

EC 3.1.1.77

XP_011513644.1

EC 3.1.1.77

XP_016867591.1

EC 3.1.1.77

XP_016867593.1

EC 3.1.1.77

XP_016867594.1

EC 3.1.1.77

XP_047276253.1

EC 3.1.1.77

XP_054214018.1

EC 3.1.1.77

XP_054214019.1

EC 3.1.1.77

XP_054214020.1

EC 3.1.1.77

XP_054214021.1

EC 3.1.1.77

XP_054214022.1

EC 3.1.1.77

XP_054214023.1

EC 3.1.1.77

XP_054214024.1

EC 3.1.1.77

XP_054214025.1

EC 3.1.1.77

XP_054214026.1

EC 3.1.1.77

XP_054214027.1

EC 3.1.1.77

XP_054214028.1

EC 3.1.1.77

XP_054214029.1

EC 3.1.1.77

XP_054214030.1

EC 3.1.1.77

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)

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, ENST00000617267.4

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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

36512941..36724494 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_017012102.3 → XP_016867591.1 acyloxyacyl hydrolase isoform X6
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 ...
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
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
XM_017012105.2 → XP_016867594.1 acyloxyacyl hydrolase isoform X11
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 ...
XM_047420297.1 → XP_047276253.1 acyloxyacyl hydrolase isoform X5
XM_017012104.1 → XP_016867593.1 acyloxyacyl hydrolase isoform X9
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
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 ...
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 ...
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 ...