PAFAH1B1 copy number variation (WP5409)

Homo sapiens

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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.

Authors

Friederike Ehrhart and Eric Weitz

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Pathway Ontology

disease pathway

Disease Ontology

Miller-Dieker lissencephaly syndrome

Participants
Query Drugst.One

Label Type Compact URI Comment
Platelet-activating factor Metabolite chebi:44811
PAFAH1B3 GeneProduct ensembl:ENSG00000079462
PAFAH1B2 GeneProduct ensembl:ENSG00000168092
DYNC1H1 GeneProduct ensembl:ENSG00000197102
RELN GeneProduct ensembl:ENSG00000189056
CLIP1 GeneProduct ensembl:ENSG00000130779
DCX GeneProduct ensembl:ENSG00000077279
NUDC GeneProduct ensembl:ENSG00000090273
TUBA1A GeneProduct ensembl:ENSG00000167552
NDEL1 GeneProduct ensembl:ENSG00000166579
PAFAH1B1 GeneProduct ensembl:ENSG00000007168 LIS1
VLDLR GeneProduct ensembl:ENSG00000147852
PAFAH1B1 GeneProduct ensembl:ENSG00000007168

References

  1. The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. Morris SM, Albrecht U, Reiner O, Eichele G, Yu-Lee LY. Curr Biol. 1998 May 7;8(10):603–6. PubMed Europe PMC Scholia
  2. Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G. Mech Dev. 2000 Apr;92(2):263–71. PubMed Europe PMC Scholia
  3. Interaction between LIS1 and doublecortin, two lissencephaly gene products. Caspi M, Atlas R, Kantor A, Sapir T, Reiner O. Hum Mol Genet. 2000 Sep 22;9(15):2205–13. PubMed Europe PMC Scholia
  4. NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein. Niethammer M, Smith DS, Ayala R, Peng J, Ko J, Lee MS, et al. Neuron. 2000 Dec;28(3):697–711. PubMed Europe PMC Scholia
  5. Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function. Tai CY, Dujardin DL, Faulkner NE, Vallee RB. J Cell Biol. 2002 Mar 18;156(6):959–68. PubMed Europe PMC Scholia
  6. LIS1, CLIP-170’s key to the dynein/dynactin pathway. Coquelle FM, Caspi M, Cordelières FP, Dompierre JP, Dujardin DL, Koifman C, et al. Mol Cell Biol. 2002 May;22(9):3089–102. PubMed Europe PMC Scholia
  7. 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Toyo-oka K, Shionoya A, Gambello MJ, Cardoso C, Leventer R, Ward HL, et al. Nat Genet. 2003 Jul;34(3):274–85. PubMed Europe PMC Scholia
  8. The Pafah1b complex interacts with the reelin receptor VLDLR. Zhang G, Assadi AH, McNeil RS, Beffert U, Wynshaw-Boris A, Herz J, et al. PLoS One. 2007 Feb 28;2(2):e252. PubMed Europe PMC Scholia