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

    Gene ID: 5051, updated on 28-Oct-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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    See PAFAH2 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (25959767..25998063, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (25797193..25835465, complement)
    RS_2024_09 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 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_2024_08

    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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