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

Summary

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: mouse all
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Genomic context

Location:: 11q23.3

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (117144287..117178173)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (117159595..117193468)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (117015003..117048889)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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).
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

D11S2082 (e-PCR)
- UniSTS:150043

RH65106 (e-PCR)
- UniSTS:91213

RH70243 (e-PCR)
- UniSTS:64354

RH46404 (e-PCR)
- UniSTS:74856

A002C39 (e-PCR)
- UniSTS:60780

RH46116 (e-PCR)
- UniSTS:42861

G19939 (e-PCR)
- UniSTS:60781

RH65946 (e-PCR)
- UniSTS:63099

PAFAH1B2__5813 (e-PCR)
- UniSTS:463764

RH18271 (e-PCR)
- UniSTS:17854

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 more info	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

EC 3.1.1.47

NP_001171676.1

EC 3.1.1.47

NP_001171677.1

EC 3.1.1.47

NP_001296360.1

EC 3.1.1.47

NP_002563.1

EC 3.1.1.47

XP_016873329.1

EC 3.1.1.47

XP_047282998.1

EC 3.1.1.47

XP_047282999.1

EC 3.1.1.47

XP_047283000.1

EC 3.1.1.47

XP_047283001.1

EC 3.1.1.47

XP_054224979.1

EC 3.1.1.47

XP_054224980.1

EC 3.1.1.47

XP_054224981.1

EC 3.1.1.47

XP_054224982.1

EC 3.1.1.47

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)

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 ...
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 ...
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 ...
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 ...
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

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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

117144287..117178173

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_047427045.1 → XP_047283001.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X4
XM_047427043.1 → XP_047282999.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X3
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 ...
XM_047427044.1 → XP_047283000.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

117159595..117193468

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
XM_054369007.1 → XP_054224982.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X4
XM_054369006.1 → XP_054224981.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X3
XM_054369004.1 → XP_054224979.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform X1