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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]
PAFAH1B2 (Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 2) is a Protein Coding gene. Diseases associated with PAFAH1B2 include Lissencephaly. Among its related pathways are Acyl chain remodelling of PE and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and hydrolase activity. An important paralog of this gene is PAFAH1B3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003847 | 1-alkyl-2-acetylglycerophosphocholine esterase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0016787 | hydrolase activity | IEA | -- |
GO:0042802 | identical protein binding | IEA | -- |
GO:0044877 | protein-containing complex binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IBA,TAS | 16130169 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Innate Immune System |
.61
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2 | Golgi-to-ER retrograde transport | ||
3 | Vesicle-mediated transport | ||
4 | Acyl chain remodelling of PE | ||
5 | Metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006629 | lipid metabolic process | TAS | 9144386 |
GO:0007283 | spermatogenesis | IEA | -- |
GO:0007420 | brain development | IBA | 21873635 |
GO:0016042 | lipid catabolic process | IEA | -- |
GO:0016239 | positive regulation of macroautophagy | IMP | 22354037 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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LysoPC(0:0/18:0) |
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4421-58-3 |
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LysoPC(10:0) |
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22248-63-1 |
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LysoPC(14:0/0:0) |
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20559-16-4 |
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LysoPC(14:1(9Z)) |
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LysoPC(15:0) |
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Compound | Action | Cas Number |
---|---|---|
Gossypol | PAF inhibitor;anti-fertility and anti-cancer | 303-45-7 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PAFAH1B2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PAFAH1B2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PAFAH1B2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PAFAH1B2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pafah1b2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pafah1b2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PAFAH1B2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PAFAH1B2 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pafah1b2 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | MGC69176 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | pafah1b2 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000939 30 |
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Fruit Fly (Drosophila melanogaster) |
Insecta | Paf-AHalpha 30 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
728711 | Benign: not provided | 117,152,483(+) | G/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv730n106 | OTHER | inversion | 24896259 |
esv2662387 | CNV | deletion | 23128226 |
esv3627846 | CNV | loss | 21293372 |
nsv1078301 | OTHER | inversion | 25765185 |
nsv39763 | CNV | insertion | 16902084 |
nsv7223 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lissencephaly |
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