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Gene id

5049

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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-activating facto,

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 variants have been described for this gene. [provided by RefSeq, Jan 2014]

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

Tissue specificity: Ubiquitous. {ECO

Sequence

MSQGDSNPAAIPHAAEDIQGDDRWMSQHNRFVLDCKDKEPDVLFVGDSMVQLMQQYEIWRELFSPLHALNFGIGG
DTTRHVLWRLKNGELENIKPKVIVVWVGTNNHENTAEEVAGGIEAIVQLINTRQPQAKIIVLGLLPRGEKPNPLR
QKNAKVNQLLKVSLPKLANVQLLDTDGGFVHSDGAISCHDMFDFLHLTGGGYAKICKPLHELIMQLLEETPEEKQ
TTIA

Structural information

Interpro:	IPR013830
Pfam:	PF13472
PDB:	1VYH
PDBsum:	1VYH
MINT:	5002700
STRING:	ENSP00000435289;

Other Databases

GeneCards: PAFAH1B2; Malacards: PAFAH1B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003847	1-alkyl-2-acetylglyceroph osphocholine esterase act ivity	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 ma croautophagy	IMP	biological_process
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0047179	platelet-activating facto r acetyltransferase activ ity	IBA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0003847	1-alkyl-2-acetylglyceroph osphocholine esterase act ivity	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 ma croautophagy	IMP	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0042803	protein homodimerization activity	IEA	molecular_function
GO:0046982	protein heterodimerizatio n activity	IEA	molecular_function
GO:0047179	platelet-activating facto r acetyltransferase activ ity	IEA	molecular_function
GO:0047179	platelet-activating facto r acetyltransferase activ ity	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 ma croautophagy	IMP	biological_process
GO:0047179	platelet-activating facto r acetyltransferase activ ity	IBA	molecular_function
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component

KEGG pathways

hsa01100 Metabolic pathways
hsa00565 Ether lipid metabolism

Diseases

Associated diseases	References
Affects sperm motility	PMID: 16595216
Endometriosis	PMID: 8423963
Endometriosis	INFBASE8423963
Polycystic ovary syndrome (PCOS)	PMID: 20367923
Premature ovarian failure(POF)	PMID: 25551949

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
8423963	Endometrio sis			20 (8 fertile w omen without en dometriosis, 12 women with mil d endometriosis )			Show abstract