Human Gene PAFAH1B3 (ENST00000262890.8) from GENCODE V44
Description: Homo sapiens platelet activating factor acetylhydrolase 1b catalytic subunit 3 (PAFAH1B3), transcript variant 2, mRNA. (from RefSeq NM_002573) RefSeq Summary (NM_002573): 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]. Gencode Transcript: ENST00000262890.8 Gencode Gene: ENSG00000079462.8 Transcript (Including UTRs) Position: hg38 chr19:42,297,035-42,302,624 Size: 5,590 Total Exon Count: 5 Strand: - Coding Region Position: hg38 chr19:42,297,078-42,302,309 Size: 5,232 Coding Exon Count: 5
ID:PA1B3_HUMAN DESCRIPTION: RecName: Full=Platelet-activating factor acetylhydrolase IB subunit gamma; EC=3.1.1.47; AltName: Full=PAF acetylhydrolase 29 kDa subunit; Short=PAF-AH 29 kDa subunit; AltName: Full=PAF-AH subunit gamma; Short=PAFAH subunit gamma; 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. CATALYTIC ACTIVITY: 1-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H(2)O = 1-alkyl-sn-glycero-3-phosphocholine + acetate. 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. INTERACTION: Q8TBB1:LNX1; NbExp=2; IntAct=EBI-711522, EBI-739832; SUBCELLULAR LOCATION: Cytoplasm. 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. SIMILARITY: Belongs to the 'GDSL' lipolytic enzyme family. Platelet-activating factor acetylhydrolase IB beta/gamma subunits subfamily.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q15102
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
