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Gene Ontology Classifications
Symbol
Name
ID
Pafah1b1
platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
MGI:109520

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Pafah1b1. (This text reflects annotations as of Thursday, July 24, 2014.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of March 4, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Assadi AH et al. (2003) Interaction of reelin signaling and Lis1 in brain development. Nat Genet, 35:270-6. (PubMed:14578885)
  2. Cahana A et al. (2001) Targeted mutagenesis of Lis1 disrupts cortical development and LIS1 homodimerization. Proc Natl Acad Sci U S A, 98:6429-34. (PubMed:11344260)
  3. Cahana A et al. (2003) A study of the nature of embryonic lethality in LIS1-/- mice. Mol Reprod Dev, 66:134-42. (PubMed:12950100)
  4. Coquelle FM et al. (2002) LIS1, CLIP-170's key to the dynein/dynactin pathway. Mol Cell Biol, 22:3089-102. (PubMed:11940666)
  5. Dujardin DL et al. (2003) A role for cytoplasmic dynein and LIS1 in directed cell movement. J Cell Biol, 163:1205-11. (PubMed:14691133)
  6. Fleck MW et al. (2000) Hippocampal abnormalities and enhanced excitability in a murine model of human lissencephaly. J Neurosci, 20:2439-50. (PubMed:10729324)
  7. Gambello MJ et al. (2003) Multiple dose-dependent effects of Lis1 on cerebral cortical development. J Neurosci, 23:1719-29. (PubMed:12629176)
  8. Hebbar S et al. (2008) Lis1 and Ndel1 influence the timing of nuclear envelope breakdown in neural stem cells. J Cell Biol, 182:1063-71. (PubMed:18809722)
  9. Hirotsune S et al. (1998) Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality [see comments] Nat Genet, 19:333-9. (PubMed:9697693)
  10. Kholmanskikh SS et al. (2003) Disregulated RhoGTPases and actin cytoskeleton contribute to the migration defect in Lis1-deficient neurons. J Neurosci, 23:8673-81. (PubMed:14507966)
  11. Koizumi H et al. (2003) Targeted disruption of intracellular type I platelet activating factor-acetylhydrolase catalytic subunits causes severe impairment in spermatogenesis. J Biol Chem, 278:12489-94. (PubMed:12551946)
  12. McManus MF et al. (2004) Lis1 is necessary for normal non-radial migration of inhibitory interneurons. Am J Pathol, 165:775-84. (PubMed:15331402)
  13. Nayernia K et al. (2003) Inactivation of a testis-specific Lis1 transcript in mice prevents spermatid differentiation and causes male infertility. J Biol Chem, 278:48377-85. (PubMed:13129914)
  14. Niethammer M et al. (2000) NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein. Neuron, 28:697-711. (PubMed:11163260)
  15. Pawlisz AS et al. (2008) Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. Hum Mol Genet, 17:2441-55. (PubMed:18469343)
  16. Paylor R et al. (1999) Impaired learning and motor behavior in heterozygous Pafah1b1 (Lis1) mutant mice. Learn Mem, 6:521-37. (PubMed:10541472)
  17. Pedersen LB et al. (2007) The lissencephaly protein Lis1 is present in motile mammalian cilia and requires outer arm dynein for targeting to Chlamydomonas flagella. J Cell Sci, 120:858-67. (PubMed:17314247)
  18. Sasaki S et al. (2000) A LIS1/NUDEL/cytoplasmic dynein heavy chain complex in the developing and adult nervous system. Neuron, 28:681-96. (PubMed:11163259)
  19. Sasaki S et al. (2005) Complete loss of Ndel1 results in neuronal migration defects and early embryonic lethality. Mol Cell Biol, 25:7812-27. (PubMed:16107726)
  20. Shen Y et al. (2008) Nudel binds Cdc42GAP to modulate Cdc42 activity at the leading edge of migrating cells. Dev Cell, 14:342-53. (PubMed:18331715)
  21. Soukoulis V et al. (2005) Cytoplasmic LEK1 is a regulator of microtubule function through its interaction with the LIS1 pathway. Proc Natl Acad Sci U S A, 102:8549-54. (PubMed:15939891)
  22. Sweeney KJ et al. (2001) NudE-L, a novel Lis1-interacting protein, belongs to a family of vertebrate coiled-coil proteins. Mech Dev, 101:21-33. (PubMed:11231056)
  23. Toyo-Oka K et al. (2005) Recruitment of katanin p60 by phosphorylated NDEL1, an LIS1 interacting protein, is essential for mitotic cell division and neuronal migration. Hum Mol Genet, 14:3113-28. (PubMed:16203747)
  24. Toyo-oka K et al. (2003) 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome. Nat Genet, 34:274-85. (PubMed:12796778)
  25. Valdes-Sanchez L et al. (2007) Postnatal alterations of the inhibitory synaptic responses recorded from cortical pyramidal neurons in the Lis1/sLis1 mutant mouse. Mol Cell Neurosci, 35:220-9. (PubMed:17433713)
  26. Ye S et al. (2011) LIS1 regulates osteoclast formation and function through its interactions with dynein/dynactin and Plekhm1. PLoS One, 6:e27285. (PubMed:22073305)
  27. Zhang G et al. (2007) The Pafah1b complex interacts with the Reelin receptor VLDLR. PLoS ONE, 2:e252. (PubMed:17330141)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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last database update
09/23/2014
MGI 5.19
The Jackson Laboratory