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PAFAH1B2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 [ Homo sapiens (human) ]

Gene ID: 5049, updated on 5-Mar-2024

Summary

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Official Symbol
PAFAH1B2provided by HGNC
Official Full Name
platelet activating factor acetylhydrolase 1b catalytic subunit 2provided by HGNC
Primary source
HGNC:HGNC:8575
See related
Ensembl:ENSG00000168092 MIM:602508; AllianceGenome:HGNC:8575
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEL-S-303
Summary
Platelet-activating factor acetylhydrolase (PAFAH) inactivates platelet-activating factor (PAF) into acetate and LYSO-PAF. This gene encodes the beta subunit of PAFAH, the other subunits are alpha and gamma. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jan 2014]
Expression
Ubiquitous expression in brain (RPKM 16.2), thyroid (RPKM 12.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
11q23.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117144287..117178173)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117159595..117193468)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117015003..117048889)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene cleavage and polyadenylation specificity factor subunit 5-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117008445-117009330 Neighboring gene proprotein convertase subtilisin/kexin type 7 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5565 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5567 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117052141-117052936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117058437-117058937 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5568 Neighboring gene SID1 transmembrane family member 2 Neighboring gene uncharacterized LOC100652768 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117066811-117067310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117068643-117069306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117072631-117073294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117076473-117077103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117077104-117077734 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117077735-117078365 Neighboring gene transgelin Neighboring gene proprotein convertase subtilisin/kexin type 7

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. Analysis of the Serum Lipid Profile in Polypoidal Choroidal Vasculopathy. Li M, et al. Sci Rep, 2016 Dec 2. PMID 27910906, Free PMC Article
  2. Associations of platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphisms with circulating PAF-AH levels and risk of coronary heart disease or blood stasis syndrome in the Chinese Han population. Zheng GH, et al. Mol Biol Rep, 2014 Nov. PMID 25034894
  3. Plasma platelet-activating factor-acetyl hydrolase activity and the levels of free forms of biomarker of lipid peroxidation in cerebrospinal fluid of patients with aneurysmal subarachnoid hemorrhage. Hirashima Y, et al. Neurosurgery, 2012 Mar. PMID 21866060
  4. Novel isoforms of intracellular platelet activating factor acetylhydrolase (PAFAH1b2) in human testis; encoded by alternatively spliced mRNAs. Scott BT, et al. Prostaglandins Other Lipid Mediat, 2008 Mar. PMID 18155631, Free PMC Article
  5. Exclusion of the alpha2 subunit of platelet-activating factor acetylhydrolase 1b (PAFAH1B2) as a prothrombotic gene in a protein C-deficient kindred and population-based case-control sample. Hasstedt SJ, et al. Thromb Haemost, 2007 Sep. PMID 17849047

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Cathepsin G-induced malignant progression of MCF-7 cells involves suppression of PAF signaling through induced expression of PAFAH1B2.
    Title: Cathepsin G-induced malignant progression of MCF-7 cells involves suppression of PAF signaling through induced expression of PAFAH1B2.
  2. PAFAH1B2 overexpression in pancreatic ductal adenocarcinoma cells was directly mediated by HIF1a.
    Title: PAFAH1B2 is a HIF1a target gene and promotes metastasis in pancreatic cancer.
  3. PAF is demonstrated to be the key indicator in the lipid metabolism of polypoidal choroidal vasculopathy patients in this study.
    Title: Analysis of the Serum Lipid Profile in Polypoidal Choroidal Vasculopathy.
  4. PAFAH1B2 and 1B3 are important in maintaining cancer pathogenicity across a wide spectrum of cancer types.
    Title: Activity-Based Protein Profiling of Oncogene-Driven Changes in Metabolism Reveals Broad Dysregulation of PAFAH1B2 and 1B3 in Cancer.
  5. The R92H and I198T polymorphisms are highly related to the plasma PAF-AH levels and the risk of coronary heart disease, especially among patients with blood stasis syndrome.
    Title: Associations of platelet-activating factor acetylhydrolase (PAF-AH) gene polymorphisms with circulating PAF-AH levels and risk of coronary heart disease or blood stasis syndrome in the Chinese Han population.
  6. aspirin is hydrolyzed in plasma by two enzymes, BChE and a new extracellular form of platelet-activating factor acetylhydrolase, PAFAH1b2.
    Title: Aspirin hydrolysis in plasma is a variable function of butyrylcholinesterase and platelet-activating factor acetylhydrolase 1b2 (PAFAH1b2).
  7. Knockdown of PAFAH1B2 strongly reduced Abeta secretion from human cells, and this effect was confirmed in primary cells derived from PAFAH1B2 knock-out mice
    Title: Loss of PAFAH1B2 reduces amyloid-β generation by promoting the degradation of amyloid precursor protein C-terminal fragments.
  8. Plasma PAF-AH can hydrolyze oxidized phospholipids, and may attenuate the spreading of lipid peroxidation and participate in defense mechanisms against vasospasm after aneurysmal subarachnoid hemorrhage.
    Title: Plasma platelet-activating factor-acetyl hydrolase activity and the levels of free forms of biomarker of lipid peroxidation in cerebrospinal fluid of patients with aneurysmal subarachnoid hemorrhage.
  9. intracellular type I PAF acetylhydrolase (PAFAH1B2 and PAFAH1B3) is the major aspirin hydrolase of human blood
    Title: Intracellular erythrocyte platelet-activating factor acetylhydrolase I inactivates aspirin in blood.
  10. These results indicate an antagonistic effect of alpha1, alpha2 and Ndel1 for Lis1 binding, probably to modulate dynein functions in vivo.
    Title: Opposing effects of Ndel1 and alpha1 or alpha2 on cytoplasmic dynein through competitive binding to Lis1.
Submit: New GeneRIF Correction See all GeneRIFs (13)

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
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 1-alkyl-2-acetylglycerophosphocholine esterase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables platelet-activating factor acetyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein-containing complex binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in lipid catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid metabolic process TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of 1-alkyl-2-acetylglycerophosphocholine esterase complex ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in extracellular exosome HDA PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
  
located_in nucleolus IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in secretory granule lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
platelet-activating factor acetylhydrolase IB subunit alpha2
Names
PAF acetylhydrolase 30 kDa subunit
PAF-AH 30 kDa subunit
PAF-AH subunit beta
PAF-AH1b alpha 2 subunit
PAFAH subunit beta
epididymis secretory protein Li 303
epididymis secretory sperm binding protein
intracellular platelet-activating factor acetylhydrolase alpha 2 subunit
platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
platelet-activating factor acetylhydrolase IB subunit beta
NP_001171675.1
NP_001171676.1
NP_001171677.1
NP_001296360.1
NP_002563.1
XP_016873329.1
XP_047282998.1
XP_047282999.1
XP_047283000.1
XP_047283001.1
XP_054224979.1
XP_054224980.1
XP_054224981.1
XP_054224982.1

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_001184746.2 → NP_001171675.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains different segments for its 3' end, compared to variant 1. The resulting protein (isoform b) has a shorter and distinct C-terminus when it is compared to isoform a. This variant has also been called SpV-2 in PubMed ID: 18155631.
    Source sequence(s)
    AP005018, AW080651, DQ836741
    Consensus CDS
    CCDS53714.1
    UniProtKB/Swiss-Prot
    P68402
    Related
    ENSP00000431365.1, ENST00000530272.1
    Conserved Domains (1) summary
    cl01053
    Location:8 → 138
    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 resembles the typical ...

  2. NM_001184747.2 → NP_001171676.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform c

    See identical proteins and their annotated locations for NP_001171676.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains a different segment for its 3' end, compared to variant 1. The resulting protein (isoform c) has a shorter and distinct C-terminus when it is compared to isoform a. This variant has also been called SpV-1 in PubMed ID: 18155631.
    Source sequence(s)
    AP005018, AW080651, DQ836742
    Consensus CDS
    CCDS53715.1
    UniProtKB/Swiss-Prot
    P68402
    Related
    ENSP00000434951.2, ENST00000529887.6
    Conserved Domains (1) summary
    cl01053
    Location:8 → 139
    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 resembles the typical ...

  3. NM_001184748.2 → NP_001171677.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform d

    See identical proteins and their annotated locations for NP_001171677.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains a different segment for its 3' end, compared to variant 1. The resulting protein (isoform d) has a shorter and distinct C-terminus when it is compared to isoform a. This variant has also been called SpV-5 in PubMed ID: 18155631.
    Source sequence(s)
    AP005018, D63390, DQ836738
    Consensus CDS
    CCDS53713.1
    UniProtKB/Swiss-Prot
    P68402
    Related
    ENSP00000388742.2, ENST00000419197.6
    Conserved Domains (1) summary
    cl01053
    Location:8 → 132
    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 resembles the typical ...

  4. NM_001309431.2 → NP_001296360.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform e

    See identical proteins and their annotated locations for NP_001296360.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an in-frame downstream start codon, compared to variant 1. The encoded isoform (e) has a shorter N-terminus than isoform a.
    Source sequence(s)
    AP005018, D63390, DB095144, DQ836743
    UniProtKB/Swiss-Prot
    P68402
    Conserved Domains (1) summary
    cd01820
    Location:1 → 169
    PAF_acetylesterase_like; PAF_acetylhydrolase (PAF-AH)_like subfamily of SGNH-hydrolases. Platelet-activating factor (PAF) and PAF-AH are key players in inflammation and in atherosclerosis. PAF-AH is a calcium independent phospholipase A2 which exhibits strong substrate ...

  5. NM_002572.4 → NP_002563.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform a

    See identical proteins and their annotated locations for NP_002563.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and it encodes the longest protein (isoform a).
    Source sequence(s)
    AP005018, D63390, DQ836743
    Consensus CDS
    CCDS8380.1
    UniProtKB/Swiss-Prot
    A8DPS5, A8DPS6, A8DPS7, E9PEJ5, E9PLP3, O00687, P68402, Q29459, Q6IBR6
    UniProtKB/TrEMBL
    V9HW44
    Related
    ENSP00000435289.1, ENST00000527958.6
    Conserved Domains (1) summary
    cd01820
    Location:8 → 217
    PAF_acetylesterase_like; PAF_acetylhydrolase (PAF-AH)_like subfamily of SGNH-hydrolases. Platelet-activating factor (PAF) and PAF-AH are key players in inflammation and in atherosclerosis. PAF-AH is a calcium independent phospholipase A2 which exhibits strong substrate ...

RNA

  1. NR_110268.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks 3' terminal exon but has an alternate 3' sequence, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    DA992484, DB484056, DQ836739

  2. NR_110269.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks 3' terminal exon but has an alternate 3' sequence, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AP005018, DA992484, DB484056, DQ836740

  3. NR_110282.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks three consecutive internal exons in the 5' region, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AK307366, AP005018, DQ836743

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    117144287..117178173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427042.1 → XP_047282998.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X2

    UniProtKB/Swiss-Prot
    A8DPS5, A8DPS6, A8DPS7, E9PEJ5, E9PLP3, O00687, P68402, Q29459, Q6IBR6
    UniProtKB/TrEMBL
    V9HW44

  2. XM_047427045.1 → XP_047283001.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X4

  3. XM_047427043.1 → XP_047282999.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X3

  4. XM_017017840.2 → XP_016873329.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X1

    Conserved Domains (1) summary
    cd01820
    Location:21 → 230
    PAF_acetylesterase_like; PAF_acetylhydrolase (PAF-AH)_like subfamily of SGNH-hydrolases. Platelet-activating factor (PAF) and PAF-AH are key players in inflammation and in atherosclerosis. PAF-AH is a calcium independent phospholipase A2 which exhibits strong substrate ...

  5. XM_047427044.1 → XP_047283000.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    117159595..117193468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369005.1 → XP_054224980.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X2

    UniProtKB/Swiss-Prot
    A8DPS5, A8DPS6, A8DPS7, E9PEJ5, E9PLP3, O00687, P68402, Q29459, Q6IBR6
    UniProtKB/TrEMBL
    V9HW44

  2. XM_054369007.1 → XP_054224982.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X4

  3. XM_054369006.1 → XP_054224981.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X3

  4. XM_054369004.1 → XP_054224979.1  platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P68402.1 GenPept UniProtKB/Swiss-Prot:P68402

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