PAFAH1B1 copy number variation (Homo sapiens)

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4725, 63187346type I platelet-activating factor acetylhydrolaseDYNC1H1NDEL1CLIP1PAFAH1B2PAFAH1B3VLDLRPAFAH1B1TUBA1ANUDCDCXPlatelet-activating factorRELNPAFAH1B18


Description

PAFAH1B1 located on chromosome 17p13.3 (exact position chr17:2496923-2588909

Miller–Dieker syndrome

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Quality Tags

Ontology Terms

 

Bibliography

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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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

CompareRevisionActionTimeUserComment
127181view09:04, 9 August 2023FehrhartOntology Term : 'Miller-Dieker lissencephaly syndrome' added !
127180view09:03, 9 August 2023FehrhartOntology Term : 'disease pathway' added !
127179view09:00, 9 August 2023FehrhartModified description
127178view08:54, 9 August 2023FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
CLIP1GeneProductENSG00000130779 (Ensembl)
DCXGeneProductENSG00000077279 (Ensembl)
DYNC1H1GeneProductENSG00000197102 (Ensembl)
NDEL1GeneProductENSG00000166579 (Ensembl)
NUDCGeneProductENSG00000090273 (Ensembl)
PAFAH1B1GeneProductENSG00000007168 (Ensembl)
PAFAH1B2GeneProductENSG00000168092 (Ensembl)
PAFAH1B3GeneProductENSG00000079462 (Ensembl)
Platelet-activating factorMetabolite44811 (ChEBI)
RELNGeneProductENSG00000189056 (Ensembl)
TUBA1AGeneProductENSG00000167552 (Ensembl)
VLDLRGeneProductENSG00000147852 (Ensembl)

Annotated Interactions

No annotated interactions

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