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Aliases for PAFAH1B3 Gene

Aliases for PAFAH1B3 Gene

  • Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 3 2 3 5
  • Platelet-Activating Factor Acetylhydrolase 1b, Catalytic Subunit 3 (29kDa) 2 3
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Subunit 3 (29kDa) 2 3
  • PAF Acetylhydrolase 29 KDa Subunit 3 4
  • PAF-AH1b Alpha 1 Subunit 2 3
  • PAF-AH 29 KDa Subunit 3 4
  • PAF-AH Subunit Gamma 3 4
  • PAFAH Subunit Gamma 3 4
  • EC 3.1.1.47 4 63
  • PAFAHG 3 4
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Gamma Subunit (29kD) 2
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Gamma Subunit 29kDa 2

External Ids for PAFAH1B3 Gene

Previous GeneCards Identifiers for PAFAH1B3 Gene

  • GC19M043447
  • GC19M043192
  • GC19M047477
  • GC19M047493
  • GC19M042801
  • GC19M039231

Summaries for PAFAH1B3 Gene

Entrez Gene Summary for PAFAH1B3 Gene

  • 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 mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

GeneCards Summary for PAFAH1B3 Gene

PAFAH1B3 (Platelet Activating Factor Acetylhydrolase 1b Catalytic Subunit 3) is a Protein Coding gene. Diseases associated with PAFAH1B3 include Lissencephaly and Miller-Dieker Lissencephaly Syndrome. Among its related pathways are Golgi-to-ER retrograde transport and Metabolism. GO annotations related to this gene include identical protein binding and hydrolase activity. An important paralog of this gene is PAFAH1B2.

UniProtKB/Swiss-Prot for PAFAH1B3 Gene

  • Inactivates paf by removing the acetyl group at the sn-2 position. This is a catalytic subunit. Plays an important role during the development of brain.

Gene Wiki entry for PAFAH1B3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAFAH1B3 Gene

Genomics for PAFAH1B3 Gene

Regulatory Elements for PAFAH1B3 Gene

Enhancers for PAFAH1B3 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PAFAH1B3 on UCSC Golden Path with GeneCards custom track

Promoters for PAFAH1B3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PAFAH1B3 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAFAH1B3 Gene

Chromosome:
19
Start:
42,297,033 bp from pter
End:
42,303,546 bp from pter
Size:
6,514 bases
Orientation:
Minus strand

Genomic View for PAFAH1B3 Gene

Genes around PAFAH1B3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAFAH1B3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAFAH1B3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAFAH1B3 Gene

Proteins for PAFAH1B3 Gene

  • Protein details for PAFAH1B3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15102-PA1B3_HUMAN
    Recommended name:
    Platelet-activating factor acetylhydrolase IB subunit gamma
    Protein Accession:
    Q15102
    Secondary Accessions:
    • Q53X88

    Protein attributes for PAFAH1B3 Gene

    Size:
    231 amino acids
    Molecular mass:
    25734 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.

neXtProt entry for PAFAH1B3 Gene

Proteomics data for PAFAH1B3 Gene at MOPED

Post-translational modifications for PAFAH1B3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PAFAH1B3 Gene

Protein Domains for PAFAH1B3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PAFAH1B3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15102

UniProtKB/Swiss-Prot:

PA1B3_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 PAFAH1B3: view

No data available for Gene Families for PAFAH1B3 Gene

Function for PAFAH1B3 Gene

Molecular function for PAFAH1B3 Gene

GENATLAS Biochemistry:
platelet activating factor acetylhydrolase,isoform 1b,gamma subunit ,29kDa
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. Plays an important role during the development of brain.

Enzyme Numbers (IUBMB) for PAFAH1B3 Gene

Gene Ontology (GO) - Molecular Function for PAFAH1B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16189514
GO:0042802 identical protein binding IPI 16189514
genes like me logo Genes that share ontologies with PAFAH1B3: view
genes like me logo Genes that share phenotypes with PAFAH1B3: view

Animal Models for PAFAH1B3 Gene

MGI Knock Outs for PAFAH1B3:

Animal Model Products

CRISPR Products

miRNA for PAFAH1B3 Gene

miRTarBase miRNAs that target PAFAH1B3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PAFAH1B3 Gene

Localization for PAFAH1B3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAFAH1B3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAFAH1B3 Gene COMPARTMENTS Subcellular localization image for PAFAH1B3 gene
Compartment Confidence
extracellular 5
cytoskeleton 3
cytosol 3
nucleus 1

Gene Ontology (GO) - Cellular Components for PAFAH1B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PAFAH1B3: view

Pathways & Interactions for PAFAH1B3 Gene

genes like me logo Genes that share pathways with PAFAH1B3: view

Gene Ontology (GO) - Biological Process for PAFAH1B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process TAS 7669037
genes like me logo Genes that share ontologies with PAFAH1B3: view

No data available for SIGNOR curated interactions for PAFAH1B3 Gene

Drugs & Compounds for PAFAH1B3 Gene

(2) Drugs for PAFAH1B3 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
acetic acid Approved Nutra Full agonist, Agonist 97
(1R)-1,2,2-TRIMETHYLPROPYL (R)-METHYLPHOSPHINATE Experimental Pharma Target 0

(37) Additional Compounds for PAFAH1B3 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 PAFAH1B3: view

Transcripts for PAFAH1B3 Gene

Unigene Clusters for PAFAH1B3 Gene

Platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PAFAH1B3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d
SP1: - - - -
SP2: - -
SP3: - - -
SP4:
SP5: -

Relevant External Links for PAFAH1B3 Gene

GeneLoc Exon Structure for
PAFAH1B3
ECgene alternative splicing isoforms for
PAFAH1B3

Expression for PAFAH1B3 Gene

mRNA expression in normal human tissues for PAFAH1B3 Gene

Protein differential expression in normal tissues from HIPED for PAFAH1B3 Gene

This gene is overexpressed in Fetal Brain (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PAFAH1B3 Gene



SOURCE GeneReport for Unigene cluster for PAFAH1B3 Gene Hs.466831

mRNA Expression by UniProt/SwissProt for PAFAH1B3 Gene

Q15102-PA1B3_HUMAN
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 in brain.
genes like me logo Genes that share expression patterns with PAFAH1B3: view

Protein tissue co-expression partners for PAFAH1B3 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues for PAFAH1B3 Gene

Orthologs for PAFAH1B3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAFAH1B3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PAFAH1B3 35
  • 91.49 (n)
  • 97.4 (a)
PAFAH1B3 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAFAH1B3 35
  • 91.49 (n)
  • 96.54 (a)
PAFAH1B3 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pafah1b3 35
  • 88.55 (n)
  • 96.52 (a)
Pafah1b3 16
Pafah1b3 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PAFAH1B3 35
  • 99.57 (n)
  • 100 (a)
PAFAH1B3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pafah1b3 35
  • 88.89 (n)
  • 96.54 (a)
oppossum
(Monodelphis domestica)
Mammalia PAFAH1B3 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAFAH1B3 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pafah1b3 35
  • 68.48 (n)
  • 71.78 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC68808 35
zebrafish
(Danio rerio)
Actinopterygii pafah1b3 35
  • 65.69 (n)
  • 66.34 (a)
zgc56430 35
pafah1b3 36
  • 64 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Paf-AHalpha 37
  • 44 (a)
Paf-AHalpha 36
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for PAFAH1B3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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 PAFAH1B3 Gene

ENSEMBL:
Gene Tree for PAFAH1B3 (if available)
TreeFam:
Gene Tree for PAFAH1B3 (if available)

Paralogs for PAFAH1B3 Gene

Paralogs for PAFAH1B3 Gene

(1) SIMAP similar genes for PAFAH1B3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PAFAH1B3: view

Variants for PAFAH1B3 Gene

Sequence variations from dbSNP and Humsavar for PAFAH1B3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1043818 - 42,297,134(-) TTCTG(C/G/T)GTCTG reference, missense
rs140450893 -- 42,296,911(+) GTGAC(A/G)GAGAG downstream-variant-500B
rs73552895 -- 42,298,691(+) CACCC(A/G)GGCGA intron-variant
rs141406696 -- 42,299,983(+) CAACC(C/T)GGGCC reference, missense
rs74553423 -- 42,296,547(+) GTAAC(A/G)CCTGC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for PAFAH1B3 Gene

Variant ID Type Subtype PubMed ID
nsv522854 CNV Gain 19592680
nsv520239 CNV Loss 19592680
nsv911782 CNV Loss 21882294
nsv526186 CNV Gain 19592680
esv2422471 CNV Deletion 17116639
nsv833834 CNV Loss 17160897
nsv911785 CNV Loss 21882294

Variation tolerance for PAFAH1B3 Gene

Residual Variation Intolerance Score: 36.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.25; 5.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PAFAH1B3 Gene

Human Gene Mutation Database (HGMD)
PAFAH1B3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAFAH1B3 Gene

Disorders for PAFAH1B3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PAFAH1B3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lissencephaly
miller-dieker lissencephaly syndrome
  • mds
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PAFAH1B3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PAFAH1B3
genes like me logo Genes that share disorders with PAFAH1B3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAFAH1B3 Gene

Publications for PAFAH1B3 Gene

  1. cDNA cloning of human cytosolic platelet-activating factor acetylhydrolase gamma-subunit and its mRNA expression in human tissues. (PMID: 7669037) Adachi H. … Inoue K. (Biochem. Biophys. Res. Commun. 1995) 2 3 4 67
  2. 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) 3 23
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. Activity-Based Protein Profiling of Oncogene-Driven Changes in Metabolism Reveals Broad Dysregulation of PAFAH1B2 and 1B3 in Cancer. (PMID: 25945974) Kohnz R.A. … Nomura D.K. (ACS Chem. Biol. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for PAFAH1B3 Gene

Sources for PAFAH1B3 Gene

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