PAFAH1B2 Gene
protein-coding GIFtS: 60
GC11P116521
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platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa) (Previous names: platelet-activating factor acetylhydrolase, isoform Ib, beta subunit (30kD), platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa ) Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptions for PAFAH1B2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
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| Aliases |
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| EC 3.1.1.47 3 | | PAFAHB 3 |
| | | Descriptions |
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| PAF acetylhydrolase 30 kDa subunit 3 | | PAF-AH 30 kDa subunit 3 | | PAF-AH subunit beta 3 | | PAFAH subunit beta 3 | intracellular platelet-activating factor acetylhydrolase alpha 2 subunit 2 | | platelet-activating factor acetylhydrolase IB subunit beta 2 | platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 2 | platelet-activating factor acetylhydrolase, isoform Ib, beta subunit (30kD) 1 | platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa 1, 2 | platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa) 2 |
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| | Search outside databases for aliases for PAFAH1B2 genePrevious GC identifers: GC11P119367 GC11P118526 GC11P117048 GC11P116552 |
Summaries for PAFAH1B2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for PAFAH1B2: Platelet-activating factor (PAF) is a biologically active phospholipid with diverse biologic effects. PAF is degraded to inactive products by hydrolysis of the acetyl group at the sn-2 position to produce the biologically inactive products LYSO-PAF and acetate. This reaction is catalyzed by PAF acetylhydrolase (PAFAH). The various monomeric and multimeric forms of the enzyme are composed of alpha (MIM 601545), beta, and gamma (MIM 603074) PAFAH subunits.[supplied by OMIM] UniProtKB/Swiss-Prot: PA1B2_HUMAN, P68402Function: Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunitGene Wiki entry for PAFAH1B2 |
Genomic Location for PAFAH1B2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the PAFAH1B2 gene 
Entrez Gene cytogenetic band: 11q23 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23PAFAH1B2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 11 GeneLoc Exon Structure GeneLoc location for GC11P116521:
(about GC identifiers)
Start:
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116,520,250 bp from pter |
End:
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116,546,969 bp from pter |
Size:
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26,720 bases |
Orientation:
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plus strand |
RefSeq DNA sequence:- NC_000011.8 NT_033899.7
| Proteins for PAFAH1B2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: PA1B2_HUMAN, P68402 (See
protein sequence)Recommended Name: Platelet-activating factor acetylhydrolase IB subunit beta Size: 229 amino acids; 25569 Da
Subunit: Cytosolic PAF-AH IB is formed of three subunits of 45 kDa (alpha), 30 kDa (beta) and 29 kDa (gamma). The catalytic activity of the enzyme resides in the beta and gamma subunits, whereas the alpha subunit has regulatory activity. Trimer formation is not essential for the catalytic activity
Subcellular location: Cytoplasm
PDB structure from and Proteopedia :1VYH (3D)
 1YVH (3D)
 
Secondary accessions: O00687 Q29459REFSEQ proteins: NP_002563.1
ENSEMBL proteins: ENSP00000304006
Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: PAFAH1B2 
1 Gene Ontology (GO) cellular component term (links to tree view): About this table
Antibodies for PAFAH1B2: Assays for PAFAH1B2: | Protein
Domains/ Families for PAFAH1B2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry P68402
ProtoNet protein and cluster: P68402 1 Blocks protein family: IPB001087 Lipolytic enzyme
UniProtKB/Swiss-Prot: PA1B2_HUMAN, P68402Similarity: Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily | Gene Function for PAFAH1B2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002572
Applied Biosystems Silencer® siRNAs for PAFAH1B2
Sigma-Aldrich siRNA for PAFAH1B2  Sigma-Aldrich shRNA for PAFAH1B2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_002572                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002572                                  untagged cDNA clone in CMV expression vector: NM_002572 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002572
UniProtKB/Swiss-Prot: PA1B2_HUMAN, P68402Function: Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunitCatalytic activity: 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O = 1-alkyl-sn-glycero-3-phosphocholine + acetateEnzyme Number (IUBMB): EC 3.1.1.47 Genatlas biochemistry entry for PAFAH1B2:platelet activating factor acetylhydrolase,isoform 1b,beta subunit ,30kDa,maybe a contributor to susceptibility to a progression of non familal dilated cardiomyopathy3 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Pafah1b2):
3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0003847 | 1-alkyl-2-acetylglycerophosphocholine esterase activity |
IEA | -- | | GO:0005515 | protein binding |
IEA | -- | | GO:0016788 | hydrolase activity, acting on ester bonds |
IEA | -- | About this table | Pathways & Interactions for PAFAH1B2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for PAFAH1B2 (Your Favorite Gene powered by Ingenuity) 
5/40 Interacting proteins for PAFAH1B2 (P684022 ENSP000003040063) via UniProtKB, MINT, and/or STRING (see all 40
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
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| GO:0007283 | spermatogenesis |
IEA | -- | | GO:0016042 | lipid catabolic process |
IEA | -- | About this table
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Drugs & Compounds for PAFAH1B2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
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Browse Tocris compounds for PAFAH1B2
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Transcripts for PAFAH1B2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_002572
Sigma-Aldrich siRNA for PAFAH1B2  Sigma-Aldrich shRNA for PAFAH1B2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_002572 REFSEQ mRNAs for PAFAH1B2 gene: NM_002572.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002572               OriGene GFP tagged cDNA clone in CMV expression vector: NM_002572                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_002572                                  untagged cDNA clone in CMV expression vector: NM_002572  Additional cDNA sequence: AK292973.1 AK307366.1 BC000398.2 BC001774.1 BC010009.2 BC019301.1 BC021287.2 BC039721.1 CR456736.1 CR603284.1 D63390.1 DQ836738.1 DQ836739.1 DQ836740.1 DQ836741.1 DQ836742.1 DQ836743.1 15 DOTS entries: DT.91768988 DT.100038566 DT.95266783 DT.452268 DT.92050945 DT.102827219 DT.80100427 DT.75181504 DT.120692847 DT.120692896 DT.100811053 DT.75191589 DT.91768975 DT.95316574 DT.95366431 24/450 AceView cDNA sequences (see all 450
):AI224552 D25614 AI540046 AI150974 CB528508 BU071318 AW250168 BC019301 AI720226 CF527839 CB068352 CB109041 AA504468 BQ649206 BM468611 BQ004130 BU191112 AI491971 AI675635 BQ723691 BQ439170 AI674921 BU185475 AW054681
highest scoring ESTs for PAFAH1B2:BU678086 D63390 AA515489 AA806846 AI273312 AW054681 AW196932 AW887475 BQ350753 W70257 Unigene Cluster for PAFAH1B2: Platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa) Hs.718419 [show with all ESTs]Unigene Representative Sequence: DQ836743
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000304808
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Expression for PAFAH1B2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| PAFAH1B2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for PAFAH1B2
1 / 2 / 3 8 probe-sets matching PAFAH1B2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: CCCGGCTCTT
SOURCE GeneReport for Unigene cluster: Hs.718419
Expression variation in blood from EXPOLDB for PAFAH1B2 UniProtKB/Swiss-Prot: PA1B2_HUMAN, P68402Tissue specificity: Ubiquitous |
Orthologs for PAFAH1B2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
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Orthologs for PAFAH1B2 gene from 5/10 species (see all 10
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About this table Species with no ortholog for PAFAH1B2
ENSEMBL Gene Tree for PAFAH1B2 | Paralogs for PAFAH1B2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for PAFAH1B2 gene
- PAFAH1B32
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SNPs/Variants for PAFAH1B2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
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HapMap Linkage Disequilibrium images for PAFAH1B2 (up to first 250kb)
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Disorders & Mutations for PAFAH1B2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
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OMIM: 602508
Human Genome Epidemiology Navigator: PAFAH1B2 (2 documents)
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Medical News for PAFAH1B2(Possibly Related Articles in
Doctor's Guide)
About This Section
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Publications for PAFAH1B2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/15 PubMed articles for PAFAH1B2 gene (see all 15
):- Differential tissue distribution of the beta- and gamma-subunits of human cytosolic platelet-activating factor acetylhydrolase (isoform I). (PubMed id 9144386)2, 3, 4 Adachi H.... Inoue K. (1997)
- The beta and gamma subunits of the human platelet-activating factor acetyl hydrolase isoform Ib (PAFAH1B2 and PAFAH1B3) map to chromosome 11q23 and 19q13.1, respectively. (PubMed id 9693049)1, 2, 3 Moro F....Carrozzo R. (1998)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Exclusion of the alpha2 subunit of platelet-activating factor acetylhydrolase 1b (PAFAH1B2) as a prothrombotic gene in a protein C-deficient kindred and population-based case-control sample. (PubMed id 17849047)1, 3 Hasstedt S.J....Bovill E.G. (2007)
- Novel isoforms of intracellular platelet activating factor acetylhydrolase (PAFAH1b2) in human testis; encoded by alternatively spliced mRNAs. (PubMed id 18155631)1, 3 Scott B.T....Bovill E.G. (2008)
- Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. (PubMed id 19019335)3 Velez D.R....Menon R. (2008)
- A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)3 Melzer D....Ferrucci L. (2008)
- Proteomics of human umbilical vein endothelial cells applied to etoposide-induced apoptosis. (PubMed id 16130169)3 Bruneel A....Baudin B. (2005)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)3 Stelzl U....Wanker E.E. (2005)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)3 Rual J.F....Vidal M. (2005)
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Search for PAFAH1B2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing PAFAH1B2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing PAFAH1B2
(According to HUGE)
About This Section
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Specialized Databases showing PAFAH1B2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
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| About This Section
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| Services for PAFAH1B2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
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 Products for PAFAH1B2:

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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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