PAFAH1B1 copy number variation (Homo sapiens)
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Description
PAFAH1B1 located on chromosome 17p13.3 (exact position chr17:2496923-2588909, GRCh37, position from Kirov et al. 2014 10.1016/j.biopsych.2013.07.022) is responsible for the rare genetic disorder Miller-Dieker syndrome (MIM # 247200). The most common symptom is lisencephaly causing severe intellectual disability, cardiac and facial dysmorphic features. The protein is part of the type I platelet-activating factor acetylhydrolase and involved in stabilising dynein binding to microtubules.
Quality Tags
Ontology Terms
Saving...Bibliography
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- Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G; ''Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.''; Mech Dev, 2000 PubMed Europe PMC Scholia
- Tai CY, Dujardin DL, Faulkner NE, Vallee RB; ''Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function.''; J Cell Biol, 2002 PubMed Europe PMC Scholia
- Zhang G, Assadi AH, McNeil RS, Beffert U, Wynshaw-Boris A, Herz J, Clark GD, D'Arcangelo G; ''The Pafah1b complex interacts with the reelin receptor VLDLR.''; PLoS One, 2007 PubMed Europe PMC Scholia
- Coquelle FM, Caspi M, Cordelières FP, Dompierre JP, Dujardin DL, Koifman C, Martin P, Hoogenraad CC, Akhmanova A, Galjart N, De Mey JR, Reiner O; ''LIS1, CLIP-170's key to the dynein/dynactin pathway.''; Mol Cell Biol, 2002 PubMed Europe PMC Scholia
- Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, Ayala R, Tsai LH, Dobyns W, Ledbetter D, Hirotsune S, Wynshaw-Boris A; ''14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.''; Nat Genet, 2003 PubMed Europe PMC Scholia
- Niethammer M, Smith DS, Ayala R, Peng J, Ko J, Lee MS, Morabito M, Tsai LH; ''NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein.''; Neuron, 2000 PubMed Europe PMC Scholia
- Morris SM, Albrecht U, Reiner O, Eichele G, Yu-Lee LY; ''The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC.''; Curr Biol, 1998 PubMed Europe PMC Scholia
- Caspi M, Atlas R, Kantor A, Sapir T, Reiner O; ''Interaction between LIS1 and doublecortin, two lissencephaly gene products.''; Hum Mol Genet, 2000 PubMed Europe PMC Scholia
History
External references
DataNodes
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| Name | Type | Database reference | Comment |
|---|---|---|---|
| CLIP1 | GeneProduct | ENSG00000130779 (Ensembl)  | |
| DCX | GeneProduct | ENSG00000077279 (Ensembl) | |
| DYNC1H1 | GeneProduct | ENSG00000197102 (Ensembl) | |
| NDEL1 | GeneProduct | ENSG00000166579 (Ensembl) | |
| NUDC | GeneProduct | ENSG00000090273 (Ensembl) | |
| PAFAH1B1 | GeneProduct | ENSG00000007168 (Ensembl) | |
| PAFAH1B2 | GeneProduct | ENSG00000168092 (Ensembl) | |
| PAFAH1B3 | GeneProduct | ENSG00000079462 (Ensembl) | |
| Platelet-activating factor | Metabolite | 44811 (ChEBI) | |
| RELN | GeneProduct | ENSG00000189056 (Ensembl) | |
| TUBA1A | GeneProduct | ENSG00000167552 (Ensembl) | |
| VLDLR | GeneProduct | ENSG00000147852 (Ensembl) |
Annotated Interactions
No annotated interactions
