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PAFAH2 platelet activating factor acetylhydrolase 2 [ Homo sapiens (human) ]

Gene ID: 5051, updated on 3-Apr-2024

Summary

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Official Symbol
PAFAH2provided by HGNC
Official Full Name
platelet activating factor acetylhydrolase 2provided by HGNC
Primary source
HGNC:HGNC:8579
See related
Ensembl:ENSG00000158006 MIM:602344; AllianceGenome:HGNC:8579
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
Also known as
HSD-PLA2
Summary
This gene encodes platelet-activating factor acetylhydrolase isoform 2, a single-subunit intracellular enzyme that catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). However, this lipase exhibits a broader substrate specificity than simply platelet activating factor. Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist, and both are multi-subunit enzymes. Additionally, there is a single-subunit serum isoform of this enzyme. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in thyroid (RPKM 8.5), colon (RPKM 7.9) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1p36.11
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25959767..25998063, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25797193..25835465, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26286258..26324554, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene stathmin 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 469 Neighboring gene uncharacterized LOC105376885 Neighboring gene microRNA 3917 Neighboring gene CRISPRi-validated cis-regulatory element chr1.3691 Neighboring gene RNA, U6 small nuclear 110, pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr1:26320062-26320573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 474 Neighboring gene small Cajal body-specific RNA 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26355537-26356402 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:26360876-26361606 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:26361909-26362072 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 477 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 478 Neighboring gene exostosin like glycosyltransferase 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
  • 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. "Association between platelet activating factor acetylhydrolase and diabetic retinopathy: Does inflammation affect the retinal status?". Moschos MM, et al. Prostaglandins Other Lipid Mediat, 2016 Jan. PMID 26791393
  2. Oligomeric state regulated trafficking of human platelet-activating factor acetylhydrolase type-II. Monillas ES, et al. Biochim Biophys Acta, 2015 May. PMID 25707358, Free PMC Article
  3. Neuroprotective role of transgenic PAF-acetylhydrolase II in mouse models of focal cerebral ischemia. Umemura K, et al. Stroke, 2007 Mar. PMID 17272759
  4. Lipoprotein-associated phospholipase A2 concentrations in plasma are associated with the extent of coronary artery disease and correlate to adipose tissue levels of marine n-3 fatty acids. Schmidt EB, et al. Atherosclerosis, 2008 Jan. PMID 17157859
  5. A single nucleotide polymorphism in the plasma PAF acetylhydrolase gene and risk of atherosclerosis in Japanese patients with peripheral artery occlusive disease. Unno N, et al. J Surg Res, 2006 Jul. PMID 16650870

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data show that the activity of plasma platelet activating factor acetylhydrolase (PAF-AH) increases in parallel with diabetic retinopathy (DR) severity.
    Title: "Association between platelet activating factor acetylhydrolase and diabetic retinopathy: Does inflammation affect the retinal status?".
  2. The oligomeric state of PAFAH-II drives functional protein trafficking. PAFAH-II localization to the membrane is critical for substrate acquisition and effective oxidative stress protection.
    Title: Oligomeric state regulated trafficking of human platelet-activating factor acetylhydrolase type-II.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: A single nucleotide polymorphism in the plasma PAF acetylhydrolase gene and risk of atherosclerosis in Japanese patients with peripheral artery occlusive disease.
  4. Lp-PLA2 was higher in those with more extensive Coronary artery disease
    Title: Lipoprotein-associated phospholipase A2 concentrations in plasma are associated with the extent of coronary artery disease and correlate to adipose tissue levels of marine n-3 fatty acids.
  5. presence of platelet-activating factor acetylhydrolase II in a restricted pattern in human skin; it is involved in protecting this organ against oxidative stress through the degradation of oxidatively modified bioactive phospholipids.
    Title: Identification of platelet-activating factor acetylhydrolase II in human skin.
  6. PAF-AH II exerts strong neuroprotective effects against ischemic injury: the neurological deficit scores, cerebral edema index, and relative infarction volume are all significantly lower in PAFAH2 transgenic mice than in wild-type mice.
    Title: Neuroprotective role of transgenic PAF-acetylhydrolase II in mouse models of focal cerebral ischemia.
  7. examines substrate specificity for intracellular and plasma PAF-AHs
    Title: Platelet-activating factor acetylhydrolases: broad substrate specificity and lipoprotein binding does not modulate the catalytic properties of the plasma enzyme.
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

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ26025

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-alkyl-2-acetylglycerophosphocholine esterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 1-alkyl-2-acetylglycerophosphocholine esterase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables 1-alkyl-2-acetylglycerophosphocholine esterase activity TAS
Traceable Author Statement
more info
  
enables phospholipid binding TAS
Traceable Author Statement
more info
 PubMed 
enables platelet-activating factor acetyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in blood coagulation TAS
Traceable Author Statement
more info
  
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
platelet-activating factor acetylhydrolase 2, cytoplasmic
Names
PAF:lysophospholipid transacetylase
PAF:sphingosine transacetylase
SD-PLA2
platelet-activating factor acetylhydrolase 2, 40kDa
platelet-activating factor acetyltransferase PAFAH2
serine-dependent phospholipase A2
NP_000428.2
XP_006710733.1
XP_011539830.1
XP_047277654.1
XP_047277656.1
XP_047277657.1
XP_054192803.1
XP_054192804.1
XP_054192805.1
XP_054192806.1
XP_054192807.1

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_000437.4 → NP_000428.2  platelet-activating factor acetylhydrolase 2, cytoplasmic

    See identical proteins and their annotated locations for NP_000428.2

    Status: REVIEWED

    Source sequence(s)
    AL592064, BC001158, BU630496, D87845, U89386
    Consensus CDS
    CCDS270.1
    UniProtKB/Swiss-Prot
    D3DPK1, O15458, Q5SY02, Q99487
    UniProtKB/TrEMBL
    B2R9K4
    Related
    ENSP00000363400.3, ENST00000374282.8
    Conserved Domains (1) summary
    pfam03403
    Location:1 → 381
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    25959767..25998063 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421701.1 → XP_047277657.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X3

  2. XM_006710670.4 → XP_006710733.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X2

    See identical proteins and their annotated locations for XP_006710733.1

    UniProtKB/Swiss-Prot
    D3DPK1, O15458, Q5SY02, Q99487
    UniProtKB/TrEMBL
    B2R9K4
    Related
    ENSP00000363402.1, ENST00000374284.5
    Conserved Domains (1) summary
    pfam03403
    Location:1 → 381
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

  3. XM_047421698.1 → XP_047277654.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X1

  4. XM_011541528.3 → XP_011539830.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X1

    UniProtKB/TrEMBL
    B2R9K4
    Conserved Domains (1) summary
    pfam03403
    Location:25 → 405
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

  5. XM_047421700.1 → XP_047277656.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    25797193..25835465 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336832.1 → XP_054192807.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X3

  2. XM_054336830.1 → XP_054192805.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X2

    UniProtKB/Swiss-Prot
    D3DPK1, O15458, Q5SY02, Q99487

  3. XM_054336829.1 → XP_054192804.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X1

  4. XM_054336828.1 → XP_054192803.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X1

  5. XM_054336831.1 → XP_054192806.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99487.1 GenPept UniProtKB/Swiss-Prot:Q99487

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