PAFAH1B3 (platelet activating factor acetylhydrolase 1b catalytic subunit 3)

Gene

• Entrez ID: 5050
• Gene name: Platelet activating factor acetylhydrolase 1b catalytic subunit 3
• Gene symbol: PAFAH1B3
• Synonyms (NCBI Gene): PAFAHG
• Chromosome: 19
• Chromosome location: 19q13.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023703	hsa-miR-1-3p	Proteomics	18668040
MIRT032358	hsa-let-7b-5p	Proteomics	18668040
MIRT050436	hsa-miR-23a-3p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003847	Function	1-alkyl-2-acetylglycerophosphocholine esterase activity	IEA
GO:0003847	Function	1-alkyl-2-acetylglycerophosphocholine esterase activity	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 28514442, 29892012, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	TAS	7669037
GO:0007283	Process	Spermatogenesis	IEA
GO:0007399	Process	Nervous system development	TAS	7669037
GO:0008247	Component	1-alkyl-2-acetylglycerophosphocholine esterase complex	IEA
GO:0008247	Component	1-alkyl-2-acetylglycerophosphocholine esterase complex	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	16189514, 21516116, 25416956, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	10542206
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	10542206
GO:0047179	Function	Platelet-activating factor acetyltransferase activity	IBA
GO:0047179	Function	Platelet-activating factor acetyltransferase activity	IEA

Other IDs

• MIM: 603074
• HGNC: 8576
• e!Ensembl: ENSG00000079462

Protein

• UniProt ID: Q15102
• Protein name: Platelet-activating factor acetylhydrolase IB subunit alpha1 (EC 3.1.1.47) (PAF acetylhydrolase 29 kDa subunit) (PAF-AH 29 kDa subunit) (PAF-AH subunit gamma) (PAFAH subunit gamma)
• Protein function: Alpha1 catalytic subunit of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)) heterotetrameric enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and modulates the
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13472	Lipase_GDSL_2	43 → 202	GDSL-like Lipase/Acylhydrolase family	Domain

• Tissue specificity: 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:

  MSGEENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVFIGDSLVQLMHQCEIWRE
  LFSPLHALNFGIGGDGTQHVLWRLENGELEHIRPKIVVVWVGTNNHGHTAEQVTGGIKAI
  VQLVNERQPQARVVVLGLLPRGQHPNPLREKNRQVNELVRAALAGHPRAHFLDADPGFVH
  SDGTISHHDMYDYLHLSRLGYTPVCRALHSLLLRLLAQDQGQGAPLLEPAP

• Sequence length: 231

Pathways

KEGG:

Ether lipid metabolism
Metabolic pathways

Reactome:

COPI-independent Golgi-to-ER retrograde traffic

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autism spectrum disorder	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAS-LOGAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	24954006	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33541355	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11285245		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11285245		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33531688	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the hypopharynx	Hypopharyngeal Carcinoma	BEFREE	31043794		★☆☆☆☆ Found in Text Mining only