PAFAH1B3 Gene
protein-coding GIFtS : 62
GC19M047493
platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) (Previous names: platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD), platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptions for PAFAH1B3
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 3.1.1.47 3 FLJ44990 2 PAFAHG 2 , 3
Descriptions PAF acetylhydrolase 29 kDa subunit 3 PAF-AH 29 kDa subunit 3 PAF-AH subunit gamma 3 PAFAH subunit gamma 3 platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 2 platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD) 1 platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa 1 , 2 platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) 2
Search outside databases for aliases for PAFAH1B3 genePrevious GC identifers: GC19M043447 GC19M043192 GC19M047477
Summaries for PAFAH1B3 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for PAFAH1B3 : This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from theglycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of theplatelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalyticbeta and gamma subunits and the regulatory alpha subunit. This complex functions in braindevelopment. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene onchromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy ofthe brain. Alternatively spliced transcript variants have been described. [provided by RefSeq] UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102 Function : Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalyticsubunit. Plays an important role during the development of brain
Gene Wiki entry for PAFAH1B3
Genomic Location for PAFAH1B3
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the PAFAH1B3 gene Entrez Gene cytogenetic band: 19q13.1 Ensembl cytogenetic band: 19q13.2 HGNC cytogenetic band: 19q13.1 PAFAH1B3 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 19 GeneLoc Exon Structure
GeneLoc location for GC19M047493:
(about GC identifiers )
Start:
47,493,025 bp from pter
End:
47,498,563 bp from pter
Size:
5,539 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000019.8 NT_011109.15 Proteins for PAFAH1B3
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 )
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UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102 (See
protein sequence )Recommended Name: Platelet-activating factor acetylhydrolase IB subunit gamma Size : 231 amino acids; 25734 Da
Subunit : Cytosolic PAF-AH IB is formed of three subunits of 45 kDa (alpha), 30 kDa (beta) and 29kDa (gamma). The catalytic activity of the enzyme resides in the beta and gamma subunits, whereasthe alpha subunit has regulatory activity. Trimer formation is not essential for the catalyticactivity
Subcellular location : Cytoplasm
REFSEQ proteins (3 alternative transcripts):
NP_001139411.1 NP_001139412.1 NP_002564.1 ENSEMBL proteins: ENSP00000262890 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: PAFAH1B3 1 Gene Ontology (GO) cellular component term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005737 cytoplasm
IEA --
About this table Antibodies for PAFAH1B3: Assays for PAFAH1B3:
Protein
Domains/ Families for PAFAH1B3(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q15102 ProtoNet protein and cluster: Q15102
1 Blocks protein family : IPB001087 Lipolytic enzyme UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102 Similarity : Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factoracetylhydrolase IB beta/gamma subunits subfamily
Gene Function for PAFAH1B3
(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
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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 .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_002573 Applied Biosystems Silencer ® siRNAs for PAFAH1B3 Sigma-Aldrich siRNA for PAFAH1B3 Sigma-Aldrich shRNA for PAFAH1B3 Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145939                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145939                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001145939  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_002573 UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102 Function : Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalyticsubunit. Plays an important role during the development of brain Catalytic activity : 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O =1-alkyl-sn-glycero-3-phosphocholine + acetate Enzyme Number (IUBMB): EC 3.1.1.47
Genatlas biochemistry entry for PAFAH1B3 :platelet activating factor acetylhydrolase,isoform 1b,gamma subunit ,29kDa
4 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Pafah1b3) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity
IEA -- GO:0005515 protein binding
IPI 16189514 GO:0016788 hydrolase activity, acting on ester bonds
IEA --
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Pathways & Interactions for PAFAH1B3
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for PAFAH1B3 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for PAFAH1B3 5/52 Interacting proteins for PAFAH1B3 (Q15102 1 , 2 ENSP00000262890 3 ) via UniProtKB, MINT, and/or STRING (see all 52
)About this table 3 Gene Ontology (GO) biological process terms (links to tree view) :
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Drugs & Compounds for PAFAH1B3 (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 )
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Browse Tocris compounds for PAFAH1B3
Transcripts for PAFAH1B3(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 ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3 ): NM_002573 Sigma-Aldrich siRNA for PAFAH1B3 Sigma-Aldrich shRNA for PAFAH1B3 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_002573
REFSEQ mRNAs for PAFAH1B3 gene (3 alternative transcripts): NM_001145939.1 NM_001145940.1 NM_002573.3
Applied Biosystems TaqMan ® Gene Expression Assays: NM_002573
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145939                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 3 ): NM_001145939                                  untagged cDNA clones in CMV expression vector (see all 3 ): NM_001145939  
Additional cDNA sequence: BC003016.1 BC007863.2 CR407626.1 CR615853.1 D63391.1
8 DOTS entries : DT.446712 DT.100821745 DT.100821744 DT.95271738 DT.92437219 DT.92437227 DT.100821747 DT.92437224
24/252 AceView cDNA sequences (see all 252
):CB216829 BM926897 BE793018 BQ581548 CA748600 BM728729 AA496629 BU730831 Z39644 AA811526 CR407626 BM708533 BQ277980 BM784760 BM008611 CR615853 BQ051834 BE887997 BE858102 BG475134 BM716130 BQ277965 BM709263 BE792900
highest scoring ESTs for PAFAH1B3 :D63391 AI769463 AI769594 BC003016 BC007863 BE545045 BE741465 BE785668 BE792900 BE793421
Unigene Cluster for PAFAH1B3: Platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa) Hs.466831 [show with all ESTs ] Unigene Representative Sequence: BM904583 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH1B3 ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d SP1 :   -   -   -   -                     SP2 :       -   -                     SP3 :       -   -           -           SP4 :                             SP5 :                   -          
About this scheme ECgene alternative splicing isoforms for PAFAH1B3 1 Ensembl transcript including schematic representation : ENST00000262890
Expression for PAFAH1B3
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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PAFAH1B3 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for PAFAH1B3 1 / 2 / 3
3 probe-sets matching PAFAH1B3 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TATGATTACCSOURCE GeneReport for Unigene cluster: Hs.466831 Expression variation in blood from EXPOLDB for PAFAH1B3
UniProtKB/Swiss-Prot: PA1B3_HUMAN, Q15102 Tissue specificity : In the adult, expressed in brain, skeletal muscle, kidney, thymus, spleen,colon, testis, ovary and peripheral blood leukocytes. In the fetus, highest expression occurs inbrain
Orthologs for PAFAH1B3
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for PAFAH1B3 gene from 5/8 species (see all 8
)
About this table Species with no ortholog for PAFAH1B3 ENSEMBL Gene Tree for PAFAH1B3 Paralogs for PAFAH1B3 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for PAFAH1B3 gene PAFAH1B2 2
SNPs/Variants for PAFAH1B3 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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The following additional 21 SNP(s) have been
found in Applied Biosystems data source:(Click
for
Applied Biosystems TaqMan ® Genotyping Assay ) HapMap Linkage Disequilibrium images for PAFAH1B3 (up to first 250kb)
Disorders & Mutations for PAFAH1B3
(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 .)
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OMIM: 603074 Human Gene Mutation Database : PAFAH1B3
Medical News for PAFAH1B3 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for PAFAH1B3 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/13 PubMed articles for PAFAH1B3 gene (see all 13
): cDNA cloning of human cytosolic platelet-activating factor acetylhydrolase gamma-subunit and its mRNA expression in human tissues. (PubMed id 7669037) 2, 3, 4 Adachi H.... Inoue K. (1995) 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) The DNA sequence and biology of human chromosome 19. (PubMed id 15057824) 3, 4 Grimwood J.... Lucas S.M. (2004) 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, 3 Moro F....Carrozzo R. (1998) 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) Proteomic analysis of SUMO4 substrates in HEK293 cells under serum starvation-induced stress. (PubMed id 16236267) 3 Guo D.... Wang C.-Y. (2005) Screening of Hsp105alpha-binding proteins using yeast and bacterial two-hybrid systems. (PubMed id 14733918) 3 Saito Y....Hatayama T. (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 3 Strausberg R.L....Marra M.A. (2002) Functional hemizygosity of PAFAH1B3 due to a PAFAH1B3-CLK2 fusion gene in a female with mental retardation, ataxia and atrophy of the brain. (PubMed id 11285245) 3 Nothwang H.G....Wirth J. (2001)
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Genome Databases showing PAFAH1B3
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing PAFAH1B3
(According to HUGE )
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Specialized Databases showing PAFAH1B3 (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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-- Services for PAFAH1B3 (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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