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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 56
  • PAFAHG 3 4
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Gamma Subunit (29kD) 2
  • Platelet-Activating Factor Acetylhydrolase, Isoform Ib, Gamma Subunit 29kDa 2
  • Platelet-Activating Factor Acetylhydrolase IB Subunit Gamma 3

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 cognitive disability, 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 Miller-Dieker Lissencephaly Syndrome. Among its related pathways are COPI-independent Golgi-to-ER retrograde traffic and Golgi-to-ER retrograde transport. Gene Ontology (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

Additional gene information for PAFAH1B3 Gene

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

Genomics for PAFAH1B3 Gene

GeneHancer (GH) Regulatory Elements for PAFAH1B3 Gene

Promoters and enhancers for PAFAH1B3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I042301 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.9 854 2.3 HDGF CLOCK ARID4B SIN3A DMAP1 ZNF2 ZNF213 ZNF143 KLF13 SP3 PRR19 PAFAH1B3 ZNF526 CCDC97 ZNF574 RPS19 ERF MEGF8 CD79A
GH19I042267 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.1 +32.7 32658 6.9 MLX FEZF1 YBX1 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 NFYC CIC PIR59110 ZNF526 ZNF574 CCDC97 DEDD2 MEGF8 CEACAM3 PAFAH1B3 PRR19
GH19I042196 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.2 +102.7 102742 8.8 HDGF PKNOX1 ATF1 ARNT IRF4 TCF12 ZNF121 E2F8 ZNF143 ATF7 ZNF574 CCDC97 ZNF526 MEGF8 HNRNPUL1 GRIK5 GSK3A LOC100505622 CIC PAFAH1B3
GH19I042110 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.2 +189.7 189674 7.1 HDGF PKNOX1 ATF1 ZNF133 SIN3A ZNF2 GLIS2 ZNF143 ATF7 FOS POU2F2 CIC GSK3A PAFAH1B3 PRR19 MEGF8 DEDD2 ZNF526 ATP1A3 CNFN
GH19I042276 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.1 +21.6 21633 11.1 YBX1 E2F8 ZNF416 ZNF143 SP3 NFYC ZFP41 SSRP1 ZNF610 GLIS1 CIC ZNF526 ZNF574 CCDC97 MEGF8 GRIK5 DEDD2 CEACAM8 PAFAH1B3 TMEM145
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PAFAH1B3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PAFAH1B3 gene promoter:

Genomic Locations for PAFAH1B3 Gene

Genomic Locations for PAFAH1B3 Gene
chr19:42,297,033-42,303,546
(GRCh38/hg38)
Size:
6,514 bases
Orientation:
Minus strand
chr19:42,801,185-42,807,698
(GRCh37/hg19)

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

Selected DME Specific Peptides for PAFAH1B3 Gene

Q15102:
  • GFVHSDG
  • ENPASKPTPVQDVQGDGRWMSLHHRFVADSKDKEPEVVF
  • EIWRELFSPLHALNF
  • VVWVGTNNH
  • LLPRGQHPNPLREKN
  • HTAEQVTGGIKAIVQLVN

Post-translational modifications for PAFAH1B3 Gene

No Post-translational modifications

Domains & Families for PAFAH1B3 Gene

Gene Families for PAFAH1B3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PAFAH1B3 Gene

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

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:0003847 1-alkyl-2-acetylglycerophosphocholine esterase activity IEA --
GO:0004623 phospholipase A2 activity TAS --
GO:0005515 protein binding IPI 16189514
GO:0016787 hydrolase activity IEA --
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

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PAFAH1B3 gene
Compartment Confidence
extracellular 5
cytosol 5
cytoskeleton 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAFAH1B3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS,IEA --
GO:0016020 membrane HDA,IDA 19946888
GO:0070062 extracellular exosome IDA,HDA 23376485
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
GO:0007283 spermatogenesis IEA --
GO:0007399 nervous system development TAS 7669037
GO:0007420 brain development IEA,IBA --
GO:0016042 lipid catabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
acetic acid Approved Nutra Full agonist, Agonist 116
(1R)-1,2,2-trimethylpropyl (R)-methylphosphinate Experimental Pharma Target 0

(36) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PAFAH1B3 Gene



Protein tissue co-expression partners for PAFAH1B3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PAFAH1B3 Gene:

PAFAH1B3

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.

Evidence on tissue expression from TISSUES for PAFAH1B3 Gene

  • Lung(4.4)
  • Nervous system(3)
genes like me logo Genes that share expression patterns with PAFAH1B3: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PAFAH1B3 33 34
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia PAFAH1B3 33 34
  • 91.49 (n)
dog
(Canis familiaris)
Mammalia PAFAH1B3 33 34
  • 91.49 (n)
rat
(Rattus norvegicus)
Mammalia Pafah1b3 33
  • 88.89 (n)
mouse
(Mus musculus)
Mammalia Pafah1b3 33 16 34
  • 88.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAFAH1B3 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PAFAH1B3 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pafah1b3 33
  • 68.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68808 33
zebrafish
(Danio rerio)
Actinopterygii pafah1b3 33 34
  • 65.69 (n)
zgc56430 33
fruit fly
(Drosophila melanogaster)
Insecta Paf-AHalpha 35 34
  • 44 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
Species where no ortholog for PAFAH1B3 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000004409 -- 42,299,219(-) C/G/T intron_variant
rs1000202339 -- 42,299,624(-) T/C intron_variant
rs1001223847 -- 42,299,835(-) C/G intron_variant
rs1001405277 -- 42,302,645(-) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001438052 -- 42,299,823(-) T/G intron_variant

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

Variant ID Type Subtype PubMed ID
esv2422471 CNV deletion 17116639
esv3583422 CNV loss 25503493
nsv1160627 CNV deletion 26073780
nsv520239 CNV loss 19592680
nsv522854 CNV gain 19592680
nsv526186 CNV gain 19592680
nsv833834 CNV loss 17160897
nsv953583 CNV deletion 24416366

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)

Additional Variant Information for PAFAH1B3 Gene

Human Gene Mutation Database (HGMD)
PAFAH1B3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAFAH1B3

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

Disorders for PAFAH1B3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PAFAH1B3 Gene - From: DISEASES

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

Additional Disease Information for 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 (Biochemical and biophysical research communications 1995) 2 3 4 58
  2. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. 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 22 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for PAFAH1B3 Gene

Sources for PAFAH1B3 Gene

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