• Gene id: 5049

Gene Summary

• Gene Symbol: PAFAH1B2   Gene   UCSC   Ensembl
• Aliases: HEL-S-303
• Gene name: platelet activating factor acetylhydrolase 1b catalytic subunit 2
• Alternate names: platelet-activating factor acetylhydrolase IB subunit beta, 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, intracellular platelet-activatin,
• Gene location: 11q23.3 (117144283: 117178172)     Exons: 10     NC_000011.10
• Gene summary(Entrez): 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 varia
• OMIM: 602508

Protein Summary

• Protein general information: P68402  
  • Name: Platelet activating factor acetylhydrolase IB subunit beta (EC 3.1.1.47) (PAF acetylhydrolase 30 kDa subunit) (PAF AH 30 kDa subunit) (PAF AH subunit beta) (PAFAH subunit beta)
  • Length: 229  
  • Mass: 25,569
• Sequence:

  MSQGDSNPAAIPHAAEDIQGDDRWMSQHNRFVLDCKDKEPDVLFVGDSMVQLMQQYEIWRELFSPLHALNFGIGG
  DTTRHVLWRLKNGELENIKPKVIVVWVGTNNHENTAEEVAGGIEAIVQLINTRQPQAKIIVLGLLPRGEKPNPLR
  QKNAKVNQLLKVSLPKLANVQLLDTDGGFVHSDGAISCHDMFDFLHLTGGGYAKICKPLHELIMQLLEETPEEKQ
  TTIA

• Structural information:
  • Interpro: IPR013830  IPR036514  
  • PDB: 1VYH
  • PDBsum: 1VYH
  • STRING: ENSP00000435289
• Other Databases: GeneCards:  PAFAH1B2  Malacards:  PAFAH1B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003847	1-alkyl-2-acetylglycerophosphocholine esterase activity	IEA	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007420	brain development	IBA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016239	positive regulation of macroautophagy	IMP	biological process
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0047179	platelet-activating factor acetyltransferase activity	IBA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0003847	1-alkyl-2-acetylglycerophosphocholine esterase activity	IEA	molecular function
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	TAS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007420	brain development	IBA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0016239	positive regulation of macroautophagy	IMP	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0047179	platelet-activating factor acetyltransferase activity	IEA	molecular function
GO:0047179	platelet-activating factor acetyltransferase activity	IBA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004623	phospholipase A2 activity	TAS	molecular function
GO:0005730	nucleolus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0007420	brain development	IBA	biological process
GO:0016239	positive regulation of macroautophagy	IMP	biological process
GO:0047179	platelet-activating factor acetyltransferase activity	IBA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways

Diseases

Associated diseases	References
Atherosclerosis	GAD: 19596311
Insulin resistance	INFBASE: 20367923
Endometriosis	INFBASE: 8423963
Polycystic ovary syndrome (PCOS)	INFBASE: 20185515
Premature ovarian failure (POF)	INFBASE: 25551949
Sperm decapacitation	MIK: 16595216
Affects sperm motility	MIK: 16595216
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 16595216
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16595216	Affects sperm motility, sperm decapacitation			312 healthy mature men seeking infertility treatment	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881