PAFAH1B2 - platelet activating factor acetylhydrolase 1b catalytic subunit 2 Gene

Also Known as HEL-S-303

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5049

About PAFAH1B2

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:117,144,287-117,178,173 (from NCBI)

This gene has 8 transcripts (splice variants), 132 orthologues, 2 paralogues and is associated with 46 phenotypes. Ubiquitous expression in brain (RPKM 16.2), thyroid (RPKM 12.3) and 25 other tissues.

Summary

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 Products (5)

mRNA Protein Name
NM_001184746.2 NP_001171675.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform b
NM_001184747.2 NP_001171676.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform c
NM_001184748.2 NP_001171677.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform d
NM_001309431.2 NP_001296360.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform e
NM_002572.4 NP_002563.1 platelet-activating factor acetylhydrolase IB subunit alpha2 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
15572112 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in positive regulation of macroautophagy IMP
IMP: Inferred from mutant phenotype
22354037 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

PAFAH1B2 Protein Structure

Lipase_GDSL_2

Lipase_GDSL_2: GDSL-like Lipase/Acylhydrolase family (43 - 205)

  • 0
  • 100
  • 200
  • 229 a.a.
Protein Preferred Names Protein Names

platelet-activating factor acetylhydrolase IB subunit alpha2

  • PAF acetylhydrolase 30 kDa subunit

PAFAH1B2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
PAFAH1B2 P68402 CLVS2 Homo sapiens Q5SYC1
Y2H Prey Pooling
32296183
Intra
PAFAH1B2 P68402 CLVS2 Homo sapiens Q5SYC1
Validated Y2H
32296183
Intra
PAFAH1B2 P68402 CLVS2 Homo sapiens Q5SYC1
Y2H Array
32296183
Intra
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102
Y2H Prey Pooling
32296183
Intra
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102
Y2H Pooling
16189514
Intra
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102
Validated Y2H
32296183
Intra
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102
Anti Tag CoIP
33961781
Intra
PAFAH1B2 P68402 PAFAH1B3 Homo sapiens Q15102
Y2H Array
32296183
Intra
PAFAH1B2 P68402 PAFAH1B1 Homo sapiens P43034
Anti Tag CoIP
33961781
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PAFAH1B2 Proteins

Art. -Nr. Produktname Accession Reinheit
HY-P71185 PAFAHB Protein, Human (His) P68402 (S2-A229) ≥ 95%, as determined by reducing SDS-PAGE.

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
Dilated Cardiomyopathy

  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy
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

Pre-clinical Phase

Bioactive Molecules (4)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-111053 P11 Inhibitor 99.69% Unkown
HY-RS09968 PAFAH1B2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21274 Pafah1b2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27793 Pafah1b2 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus PAFAH1B2 RGD RGD:620332
Macaca mulatta PAFAH1B2 VGNC VGNC:75748
Felis catus PAFAH1B2 VGNC VGNC:68685
Mus musculus PAFAH1B2 MGD MGI:108415
Bos taurus PAFAH1B2 VGNC VGNC:32550
Others PAFAH1B2 NCBI