| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID | 5048 |
Name | PAFAH1B1 |
Synonym | LIS1|LIS2|MDCR|MDS|PAFAH;platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa);PAFAH1B1;platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) |
Definition | 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) |
Position | 17p13.3 |
Gene Type | protein-coding |
|
TSG scores |
Description |
| TUSON ranking | 1674 |
TUSON P-value | 0.126918232 |
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Pathways and Diseases |
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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 |
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External Links |
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Links to Entrez Gene | 5048 |
Links to all GeneRIF Items | 5048 |
Links to iHOP | 5048 |
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Sequence Information |
The sequences provided here are only the longest representative sequences, not covering all the isoforms. |
Nucleotide Sequence |
>5048 : length: 1233 atggtgctgtcccagagacaacgagatgaactaaatcgagctatagcagattatcttcgt tcaaatggctatgaagaggcatattcagtttttaaaaaggaagctgaattagatgtgaat gaagaattagataaaaagtatgctggtcttttggaaaaaaaatggacatctgttattaga ttacaaaagaaggttatggaattagaatcaaagctaaatgaagcaaaagaagaatttacg tcaggtggacctcttggtcagaaacgagacccaaaagaatggattccccgtccgccagaa aaatatgcattgagtggtcacaggagtccagtcactcgagtcattttccatcctgtgttc agtgttatggtctctgcttcagaggatgctacaattaaggtgtgggattatgagactgga gattttgaacgaactcttaaaggacatacagactctgtacaggacatttcattcgaccac agcggcaagcttctggcttcctgttctgcagatatgaccattaaactatgggattttcag ggctttgaatgcatcagaaccatgcacggccatgaccacaatgtttcttcagtagccatc atgcccaatggagatcatatagtgtctgcctcaagggataaaactataaaaatgtgggaa gtgcaaactggctactgtgtgaagacattcacaggacacagagaatgggtacgtatggta cggccaaatcaagatggcactctgatagccagctgttccaatgaccagactgtgcgtgta tgggtcgtagcaacaaaggaatgcaaggctgagctccgagagcatgagcatgtggtagaa tgcatttcctgggctccagaaagctcatattcctccatctctgaagcaacaggatctgag actaaaaaaagtggtaaacctgggccattcttgctgtctggatccagagacaagactatt aagatgtgggatgtcagtactggcatgtgccttatgaccctcgtgggtcatgataactgg gtacgtggagttctgttccattctggggggaagtttattttgagttgtgctgatgacaag accctacgcgtatgggattacaagaacaagcgatgcatgaagaccctcaatgcgcatgaa cactttgttacctccttggatttccacaagacggcaccctatgtcgtcactggcagcgta gatcaaacagtaaaagtgtgggagtgccgttga |
Protein Sequence |
>5048 : length: 410 MVLSQRQRDELNRAIADYLRSNGYEEAYSVFKKEAELDVNEELDKKYAGLLEKKWTSVIR LQKKVMELESKLNEAKEEFTSGGPLGQKRDPKEWIPRPPEKYALSGHRSPVTRVIFHPVF SVMVSASEDATIKVWDYETGDFERTLKGHTDSVQDISFDHSGKLLASCSADMTIKLWDFQ GFECIRTMHGHDHNVSSVAIMPNGDHIVSASRDKTIKMWEVQTGYCVKTFTGHREWVRMV RPNQDGTLIASCSNDQTVRVWVVATKECKAELREHEHVVECISWAPESSYSSISEATGSE TKKSGKPGPFLLSGSRDKTIKMWDVSTGMCLMTLVGHDNWVRGVLFHSGGKFILSCADDK TLRVWDYKNKRCMKTLNAHEHFVTSLDFHKTAPYVVTGSVDQTVKVWECR |