| Gene Name | PAFAH1B1 |
|
| Specie | Homo sapiens | |
| Full Name | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| Also known as | LIS1|LIS2|MDCR|MDS|NudF|PAFAH | |
| Coordinate | chr17:2593210-2685617 | |
| Strand | + | |
| Gene summary | This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| PAFAH1B1P2 | chr2:111383561-111385137 | + |
Intergenic |
ENSG00000223973 | UCSC |
| PAFAH1B1P1 | chr2:87565677-87567250 | - |
Intergenic |
ENSG00000214354 | UCSC |
| >XM_011523901.2 |
| ACGGAAGAGGCCCTGCGGAGGCGGCGGTGCAGCGCTCCGGTGGAATGAATCTTACTTGTTGAATATCTTCTGGTTACTAGTTGGATTCATTTGTGAAAGAATCATTTTCCCCTGTGTGGAAGACACTTAGTGGCATATTTAAATTATAAGTCCACGGATCAAAAAGCTTTTTGATTTCCCAAAGGAGGGACATACCACTATATCAGATAAGCTTGACATTACAGCCAAGATGGTGCTGTCCCAGAGACAACGAGATGAACTTGACTGGTTTCAAAGAGGTGAAGATTCCATCCTTAATAAAGCTGATGAggccagAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAGCTGAATTAGATGTGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTTATGGAATTAGAATCAAAGCTAAATGAAGCAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCATTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGCCATGACCACAATGTTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGCTACTGTGTGAAGACATTCACAGGACACAGAGAATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGCATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGACTAAAAAAAGTGGTAAACCTGGGCCATTCTTGCTGTCTGGATCCAGAGACAAGACTATTAAGATGTGGGATGTCAGTACTGGCATGTGCCTTATGACCCTCGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGAGTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGATTTCCACAAGACGGCACCCTATGTCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCATTGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAATTTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGACAGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTATCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATTTTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAGCTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACATAATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTTAAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGTATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTAATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTATATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTTTGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGTCCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCTTGtgtctttttgtttgtttgcttgtttgtttTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCCTTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATATCTTTGTTCTTGTTTGCTGCTATTTTCTGTCCTATTTTGAGAAATATAAATACATAGAAATGGTGCATCTTAACATTTGTTTGTACATGTATAAATGTCTTGTATTTTAATTCATTTTTAGCATGAATTGTTTAAGGGTAAGCCACAACATCTAGAAATCACTCATAGATATTGAACAATAAAGGAGAATGGTACCGATGCAGGAGGAAGCAAGCGTGTCTTCCCCTGCAGCACACAGCGACTTGCGTTGACAAAGGAGGAGGAAACGATTACTCTGTAAACAAAGTTATCCTTACTTGGGAGATTGCCACAGCCTGCTGCTGAGTTGAGTTACCAGACATCCTCCATGTGAGAAGCAGCGAACATTGAATCTCAGGGATGGCCCACAACTGGGTCCACATGTAATGAGCCCTGTTTAATAACGAAGGGGTGGGGGAGAGCAGTCCGTCTACAACCTGGAATCAGATTTGCAAAATTTCCTGCACTGCTGTCTGACACTGTCCTGTTGATGCCCTTTCTGACTGTGTTCTCTGTTTTCTCTGTCTGCTGTCTAACCCTGTGCCTTGCCTGGGATAAGGACAATGATGAGGTTACTGGTTTGGATTGTAAGTAGAGGACTTTTATTAATTGGTTTAGAGGTTCACTGCTGCTTTGTCACTTTCTCAATCAAATTGGCCACTTAAGAAATAAAGAGCTGGTAGAATTGCATCCTCAGATGATTATTGACTGTGTGTGTGTGTGAAAACAGACATTCCAGTGCCACCCAAATATATATCTGTAACGTGCCCAAGAAATCCTAGCTGCGCTCTTGAGAGTGCATGCCATGGAGACTGGTTTAGACACCGCGTGGAGCCTAGTTGCCTGTTGTCACGGCATCTTGCACTTTAGGAGACTAAGACCGTCCTGGTTCGTCTGTGTGTGGTGTGACCAATGGTGTGCCCAGAGCACTACTCTCAAAATCACTAGTGTTAGCAAGTCGTCCCGGGCTGGGGAGCGTTCGCCGTAGTCTTTGGAAGCTTTGGCTTTAGATTTACCAAGCCCCGCCTCCCCGCTGCCAGTGCCCTGCTCTCCCGTTCGCCTCTTTCTGTTTCTGTGTGAACTTTCCCGGTAATATCACTCGTTAAATAGGTTTTCTTTAAACTTAATTAAAGAAAAACTATTTAAAGGTAAAGGATATTTTGTTGACATCGGTGGCTCGATCATCCTTAAGCAACTGAAGTTAAAATTGTTGAAGGAAAAGGCACTTAAATTGGTTACTTTCATGTCCAGCTGTATATAAGTCCAGTGTGTTCATCTAGATGACGCAAAGAATCTCCTGGTAGAGAAGCGACATGTAAAAAACTGGTGGAAAAAGGTTTTGGATTTTTTTTCCAGTGGGGTGGGGGGAGGGCAAGCTGGATTTACAGGTCACGGCTGGACTGAATGGGCCTTTTTATCTTCCCACTGTATCATGGAAGTAGCTGCTTGCTTGTACTGTCCATCCTTCAGGCATCCCTAAAGCTCACTCTGAAGATGTTAGAGACAAACACAAACTCTTCGAGTTAAAGTTGATCCTGACACTGACATGAAGGCAAGCCTTGATTTCGTATGAACGTTGCTGAAGTGGTAATTGAGGAAAACAGTTCCCCAGATTGTTAAGAGTTCACTGAAGATATTGACACAATTTTAAAAAATCAGTAAAGGAATGTATATAATATTGCTCTCGTGTTTTACAGTAAGATTTGTTGCTCTCAGACTGTGTAAAACAAAATTTATTCATGTTTTCTGCATATTAAAAAATCTTATTGTACCAACTGGTAAACTATTAAATGCCTATAAAACTAGA |