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Aliases for PAFAH1B2 Gene

Aliases for PAFAH1B2 Gene

  • Platelet-Activating Factor Acetylhydrolase 1b, Catalytic Subunit 2 (30kDa) 2 3
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Subunit 2 (30kDa) 2 3
  • PAF Acetylhydrolase 30 KDa Subunit 3 4
  • PAF-AH1b Alpha 2 Subunit 2 3
  • PAF-AH 30 KDa Subunit 3 4
  • PAF-AH Subunit Beta 3 4
  • PAFAH Subunit Beta 3 4
  • EC 3.1.1.47 4 63
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Beta Subunit 30kDa 2
  • Intracellular Platelet-Activating Factor Acetylhydrolase Alpha 2 Subunit 3
  • Epididymis Secretory Protein Li 303 3
  • HEL-S-303 3
  • PAFAHB 4

External Ids for PAFAH1B2 Gene

Previous GeneCards Identifiers for PAFAH1B2 Gene

  • GC11P119367
  • GC11P118526
  • GC11P117048
  • GC11P116552
  • GC11P116521
  • GC11P112947
  • GC11P117014

Summaries for PAFAH1B2 Gene

Entrez Gene Summary for PAFAH1B2 Gene

  • 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]

GeneCards Summary for PAFAH1B2 Gene

PAFAH1B2 (Platelet-Activating Factor Acetylhydrolase 1b, Catalytic Subunit 2 (30kDa)) is a Protein Coding gene. Diseases associated with PAFAH1B2 include lissencephaly. Among its related pathways are Metabolism and Acyl chain remodelling of PC. GO annotations related to this gene include protein homodimerization activity and hydrolase activity. An important paralog of this gene is PAFAH1B3.

UniProtKB/Swiss-Prot for PAFAH1B2 Gene

  • Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit

Gene Wiki entry for PAFAH1B2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAFAH1B2 Gene

Genomics for PAFAH1B2 Gene

Regulatory Elements for PAFAH1B2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PAFAH1B2 Gene

Chromosome:
11
Start:
117,144,267 bp from pter
End:
117,178,173 bp from pter
Size:
33,907 bases
Orientation:
Plus strand

Genomic View for PAFAH1B2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PAFAH1B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAFAH1B2 Gene

Proteins for PAFAH1B2 Gene

  • Protein details for PAFAH1B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P68402-PA1B2_HUMAN
    Recommended name:
    Platelet-activating factor acetylhydrolase IB subunit beta
    Protein Accession:
    P68402
    Secondary Accessions:
    • A8DPS5
    • A8DPS6
    • A8DPS7
    • E9PEJ5
    • E9PLP3
    • O00687
    • Q29459
    • Q6IBR6

    Protein attributes for PAFAH1B2 Gene

    Size:
    229 amino acids
    Molecular mass:
    25569 Da
    Quaternary structure:
    • 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

    Three dimensional structures from OCA and Proteopedia for PAFAH1B2 Gene

    Alternative splice isoforms for PAFAH1B2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAFAH1B2 Gene

Proteomics data for PAFAH1B2 Gene at MOPED

Post-translational modifications for PAFAH1B2 Gene

  • Ubiquitination at Lys 133
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for PAFAH1B2 Gene

Protein Domains for PAFAH1B2 Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

P68402

UniProtKB/Swiss-Prot:

PA1B2_HUMAN :
  • Belongs to the GDSL lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily.
Family:
  • Belongs to the GDSL lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily.
genes like me logo Genes that share domains with PAFAH1B2: view

No data available for Gene Families for PAFAH1B2 Gene

Function for PAFAH1B2 Gene

Molecular function for PAFAH1B2 Gene

GENATLAS Biochemistry:
platelet activating factor acetylhydrolase,isoform 1b,beta subunit ,30kDa,maybe a contributor to susceptibility to a progression of non familal dilated cardiomyopathy
UniProtKB/Swiss-Prot CatalyticActivity:
1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O = 1-alkyl-sn-glycero-3-phosphocholine + acetate
UniProtKB/Swiss-Prot Function:
Inactivates PAF by removing the acetyl group at the sn-2 position. This is a catalytic subunit

Enzyme Numbers (IUBMB) for PAFAH1B2 Gene

Gene Ontology (GO) - Molecular Function for PAFAH1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA --
GO:0005515 protein binding --
GO:0042803 protein homodimerization activity IEA --
GO:0046982 protein heterodimerization activity IEA --
GO:0047179 platelet-activating factor acetyltransferase activity IBA --
genes like me logo Genes that share ontologies with PAFAH1B2: view
genes like me logo Genes that share phenotypes with PAFAH1B2: view

Animal Models for PAFAH1B2 Gene

MGI Knock Outs for PAFAH1B2:

Animal Model Products

CRISPR Products

miRNA for PAFAH1B2 Gene

miRTarBase miRNAs that target PAFAH1B2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAFAH1B2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PAFAH1B2 Gene

Localization for PAFAH1B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAFAH1B2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAFAH1B2 Gene COMPARTMENTS Subcellular localization image for PAFAH1B2 gene
Compartment Confidence
extracellular 5
nucleus 4
plasma membrane 4
cytosol 2

Gene Ontology (GO) - Cellular Components for PAFAH1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm TAS 16130169
GO:0005829 cytosol IEA --
GO:0005886 plasma membrane IDA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with PAFAH1B2: view

Pathways & Interactions for PAFAH1B2 Gene

genes like me logo Genes that share pathways with PAFAH1B2: view

Pathways by source for PAFAH1B2 Gene

2 KEGG pathways for PAFAH1B2 Gene

SIGNOR curated interactions for PAFAH1B2 Gene

Activates:

Gene Ontology (GO) - Biological Process for PAFAH1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 9144386
GO:0007283 spermatogenesis IEA --
GO:0007420 brain development IBA --
GO:0016042 lipid catabolic process IEA --
GO:0016239 positive regulation of macroautophagy IMP 22354037
genes like me logo Genes that share ontologies with PAFAH1B2: view

Drugs & Compounds for PAFAH1B2 Gene

(1) Drugs for PAFAH1B2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Nutra Full agonist, Agonist 80

(37) Additional Compounds for PAFAH1B2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
LysoPC(0:0/18:0)
  • 1-Hydroxy-2-Octadecanoyl-sn-glycero-3-phosphocholine
  • 1-Hydroxy-2-stearoyl-sn-glycero-3-phosphocholine
  • Lysophosphatidylcholine
  • Stearoyl lysophosphatidylcholine
LysoPC(10:0)
  • 1-Capryl-2-lysophosphatidylcholine
  • 1-Capryl-L-alpha-phosphorylcholine
  • 1-Decanoyl-sn-glycero-3-phosphocholine
  • 1-Decanoyl-sn-glycerol-3-phosphorylcholine
  • 1-Decanoyllysolecithin
22248-63-1
LysoPC(14:0)
  • 1-Myristoyl-glycero-3-phosphocholine
  • LPC(14:0)
  • LPC(14:0/0:0)
  • LyPC(14:0)
  • LyPC(14:0/0:0)
LysoPC(14:1(9Z))
  • 1-Myristoleoyl-glycero-3-phosphocholine
  • LPC(14:1)
  • LPC(14:1/0:0)
  • LPC(14:1n5/0:0)
  • LPC(14:1w5/0:0)
LysoPC(15:0)
  • 1-Pentadecanoyl-glycero-3-phosphocholine
  • LPC(15:0)
  • LPC(15:0/0:0)
  • LyPC(15:0)
  • LyPC(15:0/0:0)
genes like me logo Genes that share compounds with PAFAH1B2: view

Transcripts for PAFAH1B2 Gene

Unigene Clusters for PAFAH1B2 Gene

Platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PAFAH1B2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH1B2 Gene

No ASD Table

Relevant External Links for PAFAH1B2 Gene

GeneLoc Exon Structure for
PAFAH1B2
ECgene alternative splicing isoforms for
PAFAH1B2

Expression for PAFAH1B2 Gene

mRNA expression in normal human tissues for PAFAH1B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PAFAH1B2 Gene



SOURCE GeneReport for Unigene cluster for PAFAH1B2 Gene Hs.728488

mRNA Expression by UniProt/SwissProt for PAFAH1B2 Gene

P68402-PA1B2_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with PAFAH1B2: view

Protein tissue co-expression partners for PAFAH1B2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for PAFAH1B2 Gene

Orthologs for PAFAH1B2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAFAH1B2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PAFAH1B2 35
  • 94.18 (n)
  • 100 (a)
PAFAH1B2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAFAH1B2 35
  • 93.3 (n)
  • 99.56 (a)
PAFAH1B2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pafah1b2 35
  • 91.27 (n)
  • 99.56 (a)
Pafah1b2 16
Pafah1b2 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAFAH1B2 35
  • 100 (n)
  • 100 (a)
PAFAH1B2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pafah1b2 35
  • 91.41 (n)
  • 99.56 (a)
oppossum
(Monodelphis domestica)
Mammalia PAFAH1B2 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAFAH1B2 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves PAFAH1B2 35
  • 82.24 (n)
  • 89.96 (a)
PAFAH1B2 36
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pafah1b2 35
  • 74.24 (n)
  • 82.97 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC69176 35
zebrafish
(Danio rerio)
Actinopterygii pafah1b2 35
  • 65.48 (n)
  • 69.78 (a)
pafah1b2 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Paf-AHalpha 37
  • 47 (a)
Paf-AHalpha 35
  • 51.58 (n)
  • 47.96 (a)
Paf-AHalpha 36
  • 47 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000939 35
  • 52.05 (n)
  • 45.66 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToMany
Species with no ortholog for PAFAH1B2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PAFAH1B2 Gene

ENSEMBL:
Gene Tree for PAFAH1B2 (if available)
TreeFam:
Gene Tree for PAFAH1B2 (if available)

Paralogs for PAFAH1B2 Gene

Paralogs for PAFAH1B2 Gene

(1) SIMAP similar genes for PAFAH1B2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for PAFAH1B2 Gene

genes like me logo Genes that share paralogs with PAFAH1B2: view

Variants for PAFAH1B2 Gene

Sequence variations from dbSNP and Humsavar for PAFAH1B2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs11860 -- 117,170,600(-) GCCGG(G/T)CATGA intron-variant, utr-variant-3-prime, nc-transcript-variant
rs15030 -- 117,170,294(+) AGTAT(C/T)TCTGC intron-variant, utr-variant-3-prime, nc-transcript-variant
rs1060211 -- 117,169,081(+) CCACC(A/G)TGCCT intron-variant, utr-variant-3-prime, nc-transcript-variant
rs1842567 -- 117,148,304(-) gggcc(A/G)aggca intron-variant
rs1871757 -- 117,159,865(-) GCTTG(A/T)ACTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PAFAH1B2 Gene

Variant ID Type Subtype PubMed ID
nsv7223 OTHER Inversion 18451855
nsv39763 CNV Insertion 16902084
esv2662387 CNV Deletion 23128226

Variation tolerance for PAFAH1B2 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.15; 3.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAFAH1B2 Gene

HapMap Linkage Disequilibrium report
PAFAH1B2
Human Gene Mutation Database (HGMD)
PAFAH1B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAFAH1B2 Gene

Disorders for PAFAH1B2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PAFAH1B2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lissencephaly
- elite association

Relevant External Links for PAFAH1B2

Genetic Association Database (GAD)
PAFAH1B2
Human Genome Epidemiology (HuGE) Navigator
PAFAH1B2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAFAH1B2
genes like me logo Genes that share disorders with PAFAH1B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAFAH1B2 Gene

Publications for PAFAH1B2 Gene

  1. 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. (PMID: 9693049) Moro F. … Carrozzo R. (Genomics 1998) 2 23 67
  2. Novel isoforms of intracellular platelet activating factor acetylhydrolase (PAFAH1b2) in human testis; encoded by alternatively spliced mRNAs. (PMID: 18155631) Scott B.T. … Bovill E.G. (Prostaglandins Other Lipid Mediat. 2008) 23 67
  3. 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. (PMID: 17849047) Hasstedt S.J. … Bovill E.G. (Thromb. Haemost. 2007) 23 67
  4. Differential tissue distribution of the beta- and gamma-subunits of human cytosolic platelet-activating factor acetylhydrolase (isoform I). (PMID: 9144386) Adachi H. … Inoue K. (Biochem. Biophys. Res. Commun. 1997) 2 67
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67

Products for PAFAH1B2 Gene

Sources for PAFAH1B2 Gene

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