| Gene ID | 5048 |
| Symbol | PAFAH1B1 |
| Synonymous | LIS1|LIS2|MDCR|MDS|PAFAH |
| Full name | platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) |
| Gene description | lissencephaly 1 protein|platelet-activating factor acetylhydrolase IB subunit alpha|platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)|platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa) |
| Cytoband | 17p13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:601545; HGNC:HGNC:8574; Ensembl:ENSG00000007168; HPRD:03329; Vega:OTTHUMG00000177574 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Recruitment of mitotic centrosome proteins and complexes;PID Reactome;500381 |
Pathway | Lissencephaly gene (LIS1) in neuronal migration and development;PID Curated;200114 |
Pathway | lissencephaly gene (lis1) in neuronal migration and development;PID BioCarta;100116 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Pathway | Centrosome maturation;PID Reactome;500380 |
Pathway | Reelin signaling pathway;PID Curated;200051 |
Pathway | Cell Cycle, Mitotic;Reactome;REACT:152 |
Pathway | Ether lipid metabolism;KEGG PATHWAY;hsa00565 |
Pathway | Loss of Nlp from mitotic centrosomes;PID Reactome;500384 |
Pathway | Loss of proteins required for interphase microtubule organization from the centrosome;PID Reactome;500383 |
Pathway | DNA Replication;Reactome;REACT:383 |
Disease | Hereditary disease;FunDO |
Disease | Asthma. atopy;GAD |
Disease | graft occlusion, atherosclerotic;GAD |
Disease | atherosclerosis, coronary myocardial infarct;GAD |
Disease | Lissencephaly-1;OMIM |
Disease | IMMUNE;GAD |
Disease | Subcortical laminar heterotopia;OMIM |
Disease | Asthma;FunDO |
Disease | CARDIOVASCULAR;GAD |
Disease | Periodontitis;FunDO |
Disease | Congenital abnormality;FunDO |
Disease | Asthma. atopy. spIgE.;GAD |
Disease | Total IgE. atopic asthma;GAD |
Disease | Asthma;GAD |
Sequence Information | |
|---|---|
Nucleotide Sequence | >5048 : length: 5665 GTTGGGGCAGCTCCTGTGACAGACGGAGCTGGAGCGGCGGGGCGGCGGCGGAGTCCGGCGGCCGGGAGAGCGAGTGAGCGAGCGGAGGAGCAGCGACACGGGAGTCTAGGGAGCGAGAAG GAGAAGGAGGGGAGCGCTCGGGCGCGAGCGAGAGAAACCGCGAGCGCCGAGCTTGGACTCGAGCCCCGGAACGGCTGAGGAGCCCGCCCGCTCCCCTCCCCTCCCCCTCCCCGGGCCCGG GCCCAGCGCGCCATCCTCCCCCCTCCTTCCCTCCCTCCCTCCTTCCTCCCTCCCCTCTCCCTCCCCCTCCCCCGCCGGTGGATGGGAGTGAAGGACGGAAGAGGCCCTGCGGAGGCGGCG GTGCAGCGCTCCGGTGGAATGAATCTTACTTGTTGAATATCTTCTGGTTACTAGTTGGATTCATTTGTGAAAGAATCATTTTCCCCTGTGTGGAAGACACTTAGTGGCATATTTAAATTA TAAGTCCACGGATCAAAAAGCTTTTTGATTTCCCAAAGGAGGGACATACCACTATATCAGATAAGCTTGACATTACAGCCAAGATGGTGCTGTCCCAGAGACAACGAGATGAACTTGACT GGTTTCAAAGAGGTGAAGATTCCATCCTTAATAAAGCTGATGAGGCCAGAAATCGAGCTATAGCAGATTATCTTCGTTCAAATGGCTATGAAGAGGCATATTCAGTTTTTAAAAAGGAAG CTGAATTAGATGTGAATGAAGAATTAGATAAAAAGTATGCTGGTCTTTTGGAAAAAAAATGGACATCTGTTATTAGATTACAAAAGAAGGTTATGGAATTAGAATCAAAGCTAAATGAAG CAAAAGAAGAATTTACGTCAGGTGGACCTCTTGGTCAGAAACGAGACCCAAAAGAATGGATTCCCCGTCCGCCAGAAAAATATGCATTGAGTGGTCACAGGAGTCCAGTCACTCGAGTCA TTTTCCATCCTGTGTTCAGTGTTATGGTCTCTGCTTCAGAGGATGCTACAATTAAGGTGTGGGATTATGAGACTGGAGATTTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGG ACATTTCATTCGACCACAGCGGCAAGCTTCTGGCTTCCTGTTCTGCAGATATGACCATTAAACTATGGGATTTTCAGGGCTTTGAATGCATCAGAACCATGCACGGCCATGACCACAATG TTTCTTCAGTAGCCATCATGCCCAATGGAGATCATATAGTGTCTGCCTCAAGGGATAAAACTATAAAAATGTGGGAAGTGCAAACTGGCTACTGTGTGAAGACATTCACAGGACACAGAG AATGGGTACGTATGGTACGGCCAAATCAAGATGGCACTCTGATAGCCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTAGCAACAAAGGAATGCAAGGCTGAGCTCCGAGAGC ATGAGCATGTGGTAGAATGCATTTCCTGGGCTCCAGAAAGCTCATATTCCTCCATCTCTGAAGCAACAGGATCTGAGACTAAAAAAAGTGGTAAACCTGGGCCATTCTTGCTGTCTGGAT CCAGAGACAAGACTATTAAGATGTGGGATGTCAGTACTGGCATGTGCCTTATGACCCTCGTGGGTCATGATAACTGGGTACGTGGAGTTCTGTTCCATTCTGGGGGGAAGTTTATTTTGA GTTGTGCTGATGACAAGACCCTACGCGTATGGGATTACAAGAACAAGCGATGCATGAAGACCCTCAATGCGCATGAACACTTTGTTACCTCCTTGGATTTCCACAAGACGGCACCCTATG TCGTCACTGGCAGCGTAGATCAAACAGTAAAAGTGTGGGAGTGCCGTTGATTGTGTCTCCTTCGGCCCCTCCTCCCTCTTTTCCTCTGGATGCACTCTGATGATACCATGGTTACCCCAT TGAGCTCTGTTTAAATAAATATTGTCCTTTCATGTAAATTATTCTGGATGTAGATTGAGCTTATTAAATGTTACACACAAAGTATTCATGCATGGTGAATCCAAATTGTATACTGTAAAT TTACATACGTTGTCTAGAAGTACCATAGGGTTTAAAAACCTGGGCTGGCATTGGTCACACCAGGCCTAAGAAGGCAGAAGTTGAATCAATTGAACTAGGGCACTAAACTGAATAGTTGAC AGTGTCATTTTATGTTGGATTATTAATTCCTGTTTTTCTTTCTGCTATCTGTTGGTGCCTGACTTGATGGCCTCATTTGGGGAAAAGTGGTGGTTATTAGGGCTTTTTCTGAAATGTGTA TCTATGTAACATCACTTAAGTGTGCTTAATAAATCTTCTGTAAGGATTTTAGATGATAAGGCTACAATTCAGAATCTTCTGAACCATCTATGTAATGAATGGGGATTATACATTGGAATT TTTGTCATGACACATTTGCCAAATCAGTAGGATATATTTGTTTTGGCAGCCTATCACGCAGAGGCTAGTGGTATATTTATGTAAGAAAATGACTGTAAATCTCAAGAAAAATCTCAGCAG CTAATAGCAACTCATTTATTTCATTTTGGTCTTAATGCTTTGTAAACAGGTCAAAAAATACTGTCATACTCTAAGCTTCTATTTTCCACACTGGACATACTTCTAGTTGTATTCTCCATA CTATTAGACTGTGTAGTGATGTGACTTCCAAGTAGAATTTAATCTCCCCATTGAGTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTTTAGGGATGTGCAATGTGCATTACAT AATGACAGAAATACTGAGAAGGTTCTGTGTGCCCATTTGAAAGGAGTGGGAGGAATACAGCAGTTTGTTTTTCAACATGAATCTGATATTGATTTAAACTGTGTTTCACTTACAAGTTTT AAAAAAATGACAGGGTTTAATGGAGCGTGCATAAAAATGTACTGTTTTCACCTTTTGTTTATATGTAAATGTTTGTAAGTATATGGGCCTATCTGTAAGTGGATAAGTCTGTATGTGTGT ATCATACACATCAACCTCCATGTCCTTAGTCCTGGGTTTTTGAAAAAGTGCTAAAACGGACAAGTAGAATAAATGTTGCTGTGGAATGCCATGCTTTAGAACAAACCCTTTTTGATCTTA ATGCTTCTGAAAACTAGGTCTGACTCTGGGGATTTTTTTCCAGCCGAAGGAAAATCACTTCCGTTATGTCCCCCTCTAATTTAGCCGCTCGACATTTTACACAACCCGGATATGTTGTAT ATTTTGACCCAAAGTTACAGGTAGGTTTAAGAGAATTTTTAGCCATGACTTTTGGAGCACTATTCCATTGTCAGTTATTAATAAAGAATTCCATTGCTTAGCTAACCAACAGGTTTTTTT TGTTTCCAAGAGAGTTATTTGAAAAGTTAACAGAACAATGAGATAACAGTGACAGTTTAACAAAGATAAAATTCTGAACTGCGTTTTATTCATTTGTGTACTATGTGATTTTTTAAATGT CCCCTTTAGTATTTAATGGAAAATTGGTTCCTGCAAAAGACAAAGGGTGAGAGTTAGCGTCCTGTAGATACACACAGAGACTAGGCCGTATATTAACTAGAAGCAGCTTTATGTCTAGCT TGTGTCTTTTTGTTTGTTTGCTTGTTTGTTTTTAGATTCCTGAGAGATGTCTCTGGAAGGGAAAGTTTTGAGAACTAATGGCTATTTTTGAGGACAAAAATTACATCTTAAGCTAATTCC TTAAATACATACAGTAGGTGAATTTTCAGGACAATATTGCCTCACAACCCTGCTTACATTGAAAAGTCTTTTTCCCTTAGCTCTTCTGACTGGATTTTTCTACAAAAACTATGGAAAATA TCTTTGTTCTTGTTTGCTGCTATTTTCTGTCCTATTTTGAGAAATATAAATACATAGAAATGGTGCATCTTAACATTTGTTTGTACATGTATAAATGTCTTGTATTTTAATTCATTTTTA GCATGAATTGTTTAAGGGTAAGCCACAACATCTAGAAATCACTCATAGATATTGAACAATAAAGGAGAATGGTACCGATGCAGGAGGAAGCAAGCGTGTCTTCCCCTGCAGCACACAGCG ACTTGCGTTGACAAAGGAGGAGGAAACGATTACTCTGTAAACAAAGTTATCCTTACTTGGGAGATTGCCACAGCCTGCTGCTGAGTTGAGTTACCAGACATCCTCCATGTGAGAAGCAGC GAACATTGAATCTCAGGGATGGCCCACAACTGGGTCCACATGTAATGAGCCCTGTTTAATAACGAAGGGGTGGGGGAGAGCAGTCCGTCTACAACCTGGAATCAGATTTGCAAAATTTCC TGCACTGCTGTCTGACACTGTCCTGTTGATGCCCTTTCTGACTGTGTTCTCTGTTTTCTCTGTCTGCTGTCTAACCCTGTGCCTTGCCTGGGATAAGGACAATGATGAGGTTACTGGTTT GGATTGTAAGTAGAGGACTTTTATTAATTGGTTTAGAGGTTCACTGCTGCTTTGTCACTTTCTCAATCAAATTGGCCACTTAAGAAATAAAGAGCTGGTAGAATTGCATCCTCAGATGAT TATTGACTGTGTGTGTGTGTGAAAACAGACATTCCAGTGCCACCCAAATATATATCTGTAACGTGCCCAAGAAATCCTAGCTGCGCTCTTGAGAGTGCATGCCATGGAGACTGGTTTAGA CACCGCGTGGAGCCTAGTTGCCTGTTGTCACGGCATCTTGCACTTTAGGAGACTAAGACCGTCCTGGTTCGTCTGTGTGTGGTGTGACCAATGGTGTGCCCAGAGCACTACTCTCAAAAT CACTAGTGTTAGCAAGTCGTCCCGGGCTGGGGAGCGTTCGCCGTAGTCTTTGGAAGCTTTGGCTTTAGATTTACCAAGCCCCGCCTCCCCGCTGCCAGTGCCCTGCTCTCCCGTTCGCCT CTTTCTGTTTCTGTGTGAACTTTCCCGGTAATATCACTCGTTAAATAGGTTTTCTTTAAACTTAATTAAAGAAAAACTATTTAAAGGTAAAGGATATTTTGTTGACATCGGTGGCTCGAT CATCCTTAAGCAACTGAAGTTAAAATTGTTGAAGGAAAAGGCACTTAAATTGGTTACTTTCATGTCCAGCTGTATATAAGTCCAGTGTGTTCATCTAGATGACGCAAAGAATCTCCTGGT AGAGAAGCGACATGTAAAAAACTGGTGGAAAAAGGTTTTGGATTTTTTTTCCAGTGGGGTGGGGGGAGGGCAAGCTGGATTTACAGGTCACGGCTGGACTGAATGGGCCTTTTTATCTTC CCACTGTATCATGGAAGTAGCTGCTTGCTTGTACTGTCCATCCTTCAGGCATCCCTAAAGCTCACTCTGAAGATGTTAGAGACAAACACAAACTCTTCGAGTTAAAGTTGATCCTGACAC TGACATGAAGGCAAGCCTTGATTTCGTATGAACGTTGCTGAAGTGGTAATTGAGGAAAACAGTTCCCCAGATTGTTAAGAGTTCACTGAAGATATTGACACAATTTTAAAAAATCAGTAA AGGAATGTATATAATATTGCTCTCGTGTTTTACAGTAAGATTTGTTGCTCTCAGACTGTGTAAAACAAAATTTATTCATGTTTTCTGCATATTAAAAAATCTTATTGTACCAACTGGTAA ACTATTAAATGCCTATAAAACTAGA |
Protein Sequence | >5048 : length: 428 MVLSQRQRDELDWFQRGEDSILNKADEARNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIRLQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKY ALSGHRSPVTRVIFHPVFSVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQGFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQ TGYCVKTFTGHREWVRMVRPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSETKKSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVR GVLFHSGGKFILSCADDKTLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSVDQTVKVWECR |