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

Gene ID: 5051, updated on 1-Jun-2020

Summary

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
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

Genomic context

See PAFAH2 in Genome Data Viewer
Location:
1p36.11
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (25959764..25998164, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (26286258..26326366, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene stathmin 1 Neighboring gene uncharacterized LOC105376885 Neighboring gene CRISPRi-validated cis-regulatory element chr1.3691 Neighboring gene RNA, U6 small nuclear 110, pseudogene Neighboring gene uncharacterized LOC101928216 Neighboring gene exostosin like glycosyltransferase 1 Neighboring gene solute carrier family 30 member 2

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ26025

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-alkyl-2-acetylglycerophosphocholine esterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
1-alkyl-2-acetylglycerophosphocholine esterase activity TAS
Traceable Author Statement
more info
 
phospholipid binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
lipid catabolic process IEA
Inferred from Electronic Annotation
more info
 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
platelet-activating factor acetylhydrolase 2, cytoplasmic
Names
SD-PLA2
platelet-activating factor acetylhydrolase 2, 40kDa
serine-dependent phospholipase A2
NP_000428.2
XP_006710732.1
XP_006710733.1
XP_011539830.1
XP_011539831.1
XP_016856879.1
XP_016856880.1
XP_016856881.1

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_000437.4NP_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
    Q99487
    Related
    ENSP00000363400.3, ENST00000374282.8
    Conserved Domains (1) summary
    pfam03403
    Location:1381
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    25959764..25998164 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710670.3XP_006710733.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X2

    See identical proteins and their annotated locations for XP_006710733.1

    UniProtKB/Swiss-Prot
    Q99487
    Related
    ENSP00000363402.1, ENST00000374284.5
    Conserved Domains (1) summary
    pfam03403
    Location:1381
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II
  2. XM_011541529.2XP_011539831.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X4

    Conserved Domains (1) summary
    cl21494
    Location:1260
    Abhydrolase; alpha/beta hydrolases
  3. XM_011541528.2XP_011539830.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X1

    Conserved Domains (1) summary
    pfam03403
    Location:25405
    PAF-AH_p_II; Platelet-activating factor acetylhydrolase, isoform II
  4. XM_017001392.2XP_016856881.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X4

    Conserved Domains (1) summary
    cl21494
    Location:1260
    Abhydrolase; alpha/beta hydrolases
  5. XM_017001390.2XP_016856879.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X4

    Conserved Domains (1) summary
    cl21494
    Location:1260
    Abhydrolase; alpha/beta hydrolases
  6. XM_017001391.1XP_016856880.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X4

    Conserved Domains (1) summary
    cl21494
    Location:1260
    Abhydrolase; alpha/beta hydrolases
  7. XM_006710669.3XP_006710732.1  platelet-activating factor acetylhydrolase 2, cytoplasmic isoform X3

    Conserved Domains (1) summary
    cl21494
    Location:7274
    Abhydrolase; alpha/beta hydrolases
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