PAFAH1B3 - platelet activating factor acetylhydrolase 1b catalytic subunit 3 Gene

Homo sapiens

Also known as PAFAHG

Gene ID: 5050 | Gene type: protein coding

About PAFAH1B3

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:42,297,033-42,302,800 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 7.8), brain (RPKM 7.2) and 25 other tissues.

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 consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

PAFAH1B3 Products(3)

mRNA	Protein	Name
NM_001145939.2	NP_001139411.1	platelet-activating factor acetylhydrolase IB subunit alpha1
NM_001145940.1	NP_001139412.1	platelet-activating factor acetylhydrolase IB subunit alpha1
NM_002573.4	NP_002564.1	platelet-activating factor acetylhydrolase IB subunit alpha1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA
enables protein heterodimerization activity	IDA IDA: Inferred from direct assay	10542206	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	10542206	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PAFAH1B3 Protein Structure

Lipase_GDSL_2

0
100
200
231 a.a.

Protein Preferred Names

Protein Names

platelet-activating factor acetylhydrolase IB subunit alpha1

PAF acetylhydrolase 29 kDa subunit

PAFAH1B3 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	PAFAH1B3	Q15102	MEI4	Homo sapiens	A8MW99	Y2H Prey Pooling	32296183
Intra	PAFAH1B3	Q15102	MEI4	Homo sapiens	A8MW99	Y2H Array	32296183
Intra	PAFAH1B3	Q15102	LNX1	Homo sapiens	Q8TBB1	Pull Down	16189514
Intra	PAFAH1B3	Q15102	PAFAH1B3	Homo sapiens	Q15102	Y2H	21516116
Intra	PAFAH1B3	Q15102	LNX1	Homo sapiens	Q8TBB1	Y2H Pooling	16189514
Intra	PAFAH1B3	Q15102	SDCBP2	Homo sapiens	Q9H190	Y2H Array	31515488
Intra	PAFAH1B3	Q15102	PAFAH1B3	Homo sapiens	Q15102	MAPPIT	32296183
Intra	PAFAH1B3	Q15102	PAFAH1B3	Homo sapiens	Q15102	Y2H Prey Pooling	32296183
Intra	PAFAH1B3	Q15102	PAFAH1B3	Homo sapiens	Q15102	Validated Y2H	32296183
Intra	PAFAH1B3	Q15102	PAFAH1B3	Homo sapiens	Q15102	Y2H Array	25416956
Intra	PAFAH1B3	Q15102	PAFAH1B3	Homo sapiens	Q15102	Complementation	32296183
Intra	PAFAH1B3	Q15102	LNX1	Homo sapiens	Q8TBB1	Validated Y2H	32296183
Intra	PAFAH1B3	Q15102	PAFAH1B2	Homo sapiens	P68402	Anti Tag CoIP	33961781
Intra	PAFAH1B3	Q15102	PAFAH1B3	Homo sapiens	Q15102	Y2H Array	32296183
Intra	PAFAH1B3	Q15102	LNX1	Homo sapiens	Q8TBB1	Y2H Prey Pooling	32296183
Intra	PAFAH1B3	Q15102	LNX1	Homo sapiens	Q8TBB1	Y2H Array	32296183
Intra	PAFAH1B3	Q15102	PAFAH1B3	Homo sapiens	Q15102	Y2H Pooling	16189514
Intra	PAFAH1B3	Q15102	LNX1	Homo sapiens	Q8TBB1	Y2H Array	29892012
Intra	PAFAH1B3	Q15102	SDCBP2	Homo sapiens	Q9H190	Y2H Pooling	16189514
Intra	PAFAH1B3	Q15102	PAFAH1B1	Homo sapiens	P43034	Anti Tag CoIP	33961781
Intra	PAFAH1B3	Q15102	PAFAH1B1	Homo sapiens	P43034	Anti Tag CoIP	28514442
Intra	PAFAH1B3	Q15102	NIF3L1	Homo sapiens	Q9GZT8	Y2H Prey Pooling	32296183
Intra	PAFAH1B3	Q15102	NIF3L1	Homo sapiens	Q9GZT8	Validated Y2H	32296183
Intra	PAFAH1B3	Q15102	NIF3L1	Homo sapiens	Q9GZT8	Y2H Array	32296183
Intra	PAFAH1B3	Q15102	SDCBP2	Homo sapiens	Q9H190	Y2H Prey Pooling	32296183
Intra	PAFAH1B3	Q15102	SDCBP2	Homo sapiens	Q9H190	Validated Y2H	32296183
Intra	PAFAH1B3	Q15102	SDCBP2	Homo sapiens	Q9H190	Y2H Array	32296183
Intra	PAFAH1B3	Q15102	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183
Intra	PAFAH1B3	Q15102	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	PAFAH1B3	Q15102	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09969	PAFAH1B3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PAFAH1B3	RGD	RGD:620333
Canis familiaris	PAFAH1B3	VGNC	VGNC:44240
Felis catus	PAFAH1B3	VGNC	VGNC:103738
Mus musculus	PAFAH1B3	MGD	MGI:108414
Bos taurus	PAFAH1B3	VGNC	VGNC:32551

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