• Gene id: 5050

Gene Summary

• Gene Symbol: PAFAH1B3   Gene   UCSC   Ensembl
• Aliases: PAFAHG
• Gene name: platelet activating factor acetylhydrolase 1b catalytic subunit 3
• Alternate names: platelet-activating factor acetylhydrolase IB subunit gamma, PAF acetylhydrolase 29 kDa subunit, PAF-AH 29 kDa subunit, PAF-AH subunit gamma, PAF-AH1b alpha 1 subunit, PAFAH subunit gamma, epididymis secretory sperm binding protein, platelet-activating factor ac,
• Gene location: 19q13.2 (42302799: 42297032)     Exons: 6     NC_000019.10
• Gene summary(Entrez): This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consis
• OMIM: 606368

Protein Summary

• Protein general information: Q15102  
  • Name: Platelet activating factor acetylhydrolase IB subunit gamma (EC 3.1.1.47) (PAF acetylhydrolase 29 kDa subunit) (PAF AH 29 kDa subunit) (PAF AH subunit gamma) (PAFAH subunit gamma)
  • Length: 231  
  • Mass: 25734
  • Tissue specificity: In the adult, expressed in brain, skeletal muscle, kidney, thymus, spleen, colon, testis, ovary and peripheral blood leukocytes. In the fetus, highest expression occurs in brain.
• Sequence:

  MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFIGDSLVQLMHQCEIWRELFSPLHALNFGIGGD
  GTQHVLWRLENGELEHIRPKIVVVWVGTNNHGHTAEQVTGGIKAIVQLVNERQPQARVVVLGLLPRGQHPNPLRE
  KNRQVNELVRAALAGHPRAHFLDADPGFVHSDGTISHHDMYDYLHLSRLGYTPVCRALHSLLLRLLAQDQGQGAP
  LLEPAP

• Structural information:
  • Interpro: IPR013830  IPR036514  
  • STRING: ENSP00000444935
• Other Databases: GeneCards:  PAFAH1B3  Malacards:  PAFAH1B3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047179	platelet-activating factor acetyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0007420	brain development	IBA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0003847	1-alkyl-2-acetylglycerophosphocholine esterase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0047179	platelet-activating factor acetyltransferase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0007420	brain development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0047179	platelet-activating factor acetyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0007420	brain development	IBA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0003847	1-alkyl-2-acetylglycerophosphocholine esterase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007283	spermatogenesis	IEA	biological process
GO:0047179	platelet-activating factor acetyltransferase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0007420	brain development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00565	Ether lipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray