Official symbol | PAFAH1B3 |
Gene id | 5050 |
Organism | Homo sapiens |
Official full symbol | platelet activating factor acetylhydrolase 1b catalytic subunit 3 |
Gene type | protein-coding |
Also known as | PAFAHG |
Summary | 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. |
Genomic regions | Chromosome 19 |
Name | Transcript ID | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
PAFAH1B3-202 | ENST00000538771.5 | 1098 | 231aa | Protein coding | CCDS12602 | A0A024R0L6 Q15102 | - | TSL:2, GENCODE basic, APPRIS P1, |
PAFAH1B3-201 | ENST00000262890.8 | 1054 | 231aa | Protein coding | CCDS12602 | A0A024R0L6 Q15102 | NM_002573.4 | TSL:1, GENCODE basic, APPRIS P1, MANE Select v0.92, |
PAFAH1B3-203 | ENST00000594989.5 | 649 | 202aa | Protein coding | - | M0R1K3 | - | CDS 5' incomplete, TSL:5, |
PAFAH1B3-208 | ENST00000601865.5 | 646 | 96aa | Protein coding | - | M0R323 | - | CDS 3' incomplete, TSL:2, |
PAFAH1B3-204 | ENST00000595530.5 | 582 | 164aa | Protein coding | - | M0R389 | - | CDS 3' incomplete, TSL:2, |
PAFAH1B3-205 | ENST00000596265.5 | 465 | 139aa | Protein coding | - | M0QZT2 | - | CDS 3' incomplete, TSL:3, |
PAFAH1B3-207 | ENST00000599778.1 | 380 | 95aa | Protein coding | - | M0QXS6 | - | CDS 3' incomplete, TSL:5, |
PAFAH1B3-206 | ENST00000597333.1 | 726 | No protein | Retained intron | - | - | - | TSL:2, |
Target Gene | PAFAH1B3 |
This KO Strategy | loading |
Red Cotton™ Notes | Gene PAFAH1B3 had been KO in hek293t cell line. |
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