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AOAH acyloxyacyl hydrolase [ Homo sapiens (human) ]

Gene ID: 313, updated on 13-Feb-2019

Summary

Official Symbol
AOAHprovided by HGNC
Official Full Name
acyloxyacyl hydrolaseprovided by HGNC
Primary source
HGNC:HGNC:548
See related
Ensembl:ENSG00000136250 MIM:102593
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

Genomic context

See AOAH in Genome Data Viewer
Location:
7p14.2
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (36509313..36724549, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (36552549..36764154, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene endonuclease/exonuclease/phosphatase family domain containing 1 Neighboring gene KIAA0895 Neighboring gene NFE2L2 motif-containing MPRA enhancer 148 Neighboring gene anillin actin binding protein Neighboring gene AOAH intronic transcript 1 Neighboring gene uncharacterized LOC105375235 Neighboring gene nucleophosmin 1 pseudogene 18 Neighboring gene engulfment and cell motility 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyloxyacyl hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
lipopolysaccharide catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_016867595.1

NCBI Reference Sequences (RefSeq)

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_001177506.1NP_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, DA469735, DC314135, KF454909
    Consensus CDS
    CCDS75584.1
    UniProtKB/Swiss-Prot
    P28039
    UniProtKB/TrEMBL
    A0A087WVT3
    Related
    ENSP00000479664.1, ENST00000617267.4
    Conserved Domains (4) summary
    smart00741
    Location:40114
    SapB; Saposin (B) Domains
    cd01826
    Location:244543
    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:83114
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:205233
    Cu-binding_MopE; Putative metal-binding motif
  2. NM_001177507.1NP_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, DA469735, DC314135
    Consensus CDS
    CCDS55102.1
    UniProtKB/Swiss-Prot
    P28039
    Related
    ENSP00000484305.1, ENST00000612871.4
    Conserved Domains (4) summary
    smart00741
    Location:4582
    SapB; Saposin (B) Domains
    cd01826
    Location:212514
    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:5182
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:173201
    Cu-binding_MopE; Putative metal-binding motif
  3. NM_001637.3NP_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, DA469735, DC314135
    Consensus CDS
    CCDS5448.1
    UniProtKB/Swiss-Prot
    P28039
    Related
    ENSP00000483783.1, ENST00000617537.4
    Conserved Domains (3) summary
    smart00741
    Location:40114
    SapB; Saposin (B) Domains
    cd01826
    Location:244546
    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:205233
    Cu-binding_MopE; Putative metal-binding motif

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    36509313..36724549 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012102.2XP_016867591.1  acyloxyacyl hydrolase isoform X5

  2. XM_011515334.2XP_011513636.1  acyloxyacyl hydrolase isoform X2

    Conserved Domains (4) summary
    smart00741
    Location:4582
    SapB; Saposin (B) Domains
    cd01826
    Location:212511
    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:5182
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:173201
    Cu-binding_MopE; Putative metal-binding motif
  3. XM_011515333.2XP_011513635.1  acyloxyacyl hydrolase isoform X1

    Conserved Domains (4) summary
    smart00741
    Location:40114
    SapB; Saposin (B) Domains
    pfam03489
    Location:83114
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:205233
    Cu-binding_MopE; Putative metal-binding motif
    cl01053
    Location:244518
    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_011515335.2XP_011513637.1  acyloxyacyl hydrolase isoform X3

    Conserved Domains (4) summary
    smart00741
    Location:373
    SapB; Saposin (B) Domains
    cd01826
    Location:203502
    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:4273
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:164192
    Cu-binding_MopE; Putative metal-binding motif
  5. XM_017012105.1XP_016867594.1  acyloxyacyl hydrolase isoform X10

  6. XM_011515342.2XP_011513644.1  acyloxyacyl hydrolase isoform X13

    Conserved Domains (1) summary
    cl01053
    Location:6266
    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 ...
  7. XM_011515336.2XP_011513638.1  acyloxyacyl hydrolase isoform X4

    Conserved Domains (4) summary
    smart00741
    Location:40114
    SapB; Saposin (B) Domains
    cd01826
    Location:244540
    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:83114
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:205233
    Cu-binding_MopE; Putative metal-binding motif
  8. XM_017012104.1XP_016867593.1  acyloxyacyl hydrolase isoform X8

  9. XM_011515338.2XP_011513640.1  acyloxyacyl hydrolase isoform X6

    Conserved Domains (4) summary
    smart00741
    Location:40114
    SapB; Saposin (B) Domains
    cd01826
    Location:244533
    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:83114
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:205233
    Cu-binding_MopE; Putative metal-binding motif
  10. XM_011515339.2XP_011513641.1  acyloxyacyl hydrolase isoform X7

    Conserved Domains (4) summary
    smart00741
    Location:40114
    SapB; Saposin (B) Domains
    pfam03489
    Location:83114
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:205233
    Cu-binding_MopE; Putative metal-binding motif
    cl01053
    Location:244515
    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 ...
  11. XM_011515340.2XP_011513642.1  acyloxyacyl hydrolase isoform X9

    Conserved Domains (4) summary
    smart00741
    Location:40114
    SapB; Saposin (B) Domains
    pfam03489
    Location:83114
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:205233
    Cu-binding_MopE; Putative metal-binding motif
    cl01053
    Location:244507
    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_017012106.1XP_016867595.1  acyloxyacyl hydrolase isoform X11

  13. XM_011515341.2XP_011513643.1  acyloxyacyl hydrolase isoform X12

    Conserved Domains (4) summary
    smart00741
    Location:40114
    SapB; Saposin (B) Domains
    pfam03489
    Location:83114
    SapB_2; Saposin-like type B, region 2
    pfam11617
    Location:205233
    Cu-binding_MopE; Putative metal-binding motif
    cl01053
    Location:244435
    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 ...
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