PAFAH1B1

Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)

PDB rendering based on 1uuj.
Identifiers
Symbols PAFAH1B1; LIS1; LIS2; MDCR; MDS; PAFAH
External IDs OMIM: 601545 MGI: 109520 HomoloGene: 371 GeneCards: PAFAH1B1 Gene
EC number 3.1.1.47
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez 5048 18472
Ensembl ENSG00000007168 ENSMUSG00000020745
UniProt P43034 Q3TUH5
RefSeq (mRNA) NM_000430.3 XM_982651
RefSeq (protein) NP_000421.1 NP_038653.1
Location (UCSC) Chr 17:
2.5 – 2.59 Mb		 Chr 11:
74.49 – 74.54 Mb
PubMed search [1] [2]

Platelet-activating factor acetylhydrolase IB subunit alpha is an enzyme that in humans is encoded by the PAFAH1B1 gene.[1][2][3]

PAFAH1B1 was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker syndrome. PAFAH1B1 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.[3]

According to one study, PAFAH1B1 interacts with VLDLR receptor activated by reelin.[4]

Contents

Genomics

The gene is located at chromosome 17p13.3 on the Watson (plus) strand. The gene is 91,953 bases in length and encodes a protein of 410 amino acids (predicted molecular weight 46.638 kiloDaltons).

Interactions

PAFAH1B1 has been shown to interact with DYNC1H1,[5] CLIP1,[6] NDEL1,[7][8] PAFAH1B3,[9] PAFAH1B2,[9] NUDC,[10] TUBA1A[11] and Doublecortin.[12]

See also

References

  1. ^ Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH (Sep 1993). "Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats". Nature 364 (6439): 717–21. doi:10.1038/364717a0. PMID 8355785. 
  2. ^ Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH (Aug 1997). "Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome". Hum Mol Genet 6 (2): 157–64. doi:10.1093/hmg/6.2.157. PMID 9063735. 
  3. ^ a b "Entrez Gene: PAFAH1B1 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5048. 
  4. ^ Zhang G, Assadi AH, McNeil RS, Beffert U, Wynshaw-Boris A, Herz J, Clark GD, D’Arcangelo G. (2007). Mueller, Ulrich. ed. "The Pafah1b Complex Interacts with the Reelin Receptor VLDLR". PLoS ONE 2 (2): e252. doi:10.1371/journal.pone.0000252. PMC 1800349. PMID 17330141. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1800349. 
  5. ^ Tai, Chin-Yin; Dujardin Denis L, Faulkner Nicole E, Vallee Richard B (Mar. 2002). "Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function". J. Cell Biol. (United States) 156 (6): 959–68. doi:10.1083/jcb.200109046. ISSN 0021-9525. PMC 2173479. PMID 11889140. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2173479. 
  6. ^ Coquelle, Frédéric M; Caspi Michal, Cordelières Fabrice P, Dompierre Jim P, Dujardin Denis L, Koifman Cynthia, Martin Patrick, Hoogenraad Casper C, Akhmanova Anna, Galjart Niels, De Mey Jan R, Reiner Orly (May. 2002). "LIS1, CLIP-170's Key to the Dynein/Dynactin Pathway". Mol. Cell. Biol. (United States) 22 (9): 3089–102. doi:10.1128/MCB.22.9.3089-3102.2002. ISSN 0270-7306. PMC 133759. PMID 11940666. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=133759. 
  7. ^ Toyo-oka, Kazuhito; Shionoya Aki, Gambello Michael J, Cardoso Carlos, Leventer Richard, Ward Heather L, Ayala Ramses, Tsai Li-Huei, Dobyns William, Ledbetter David, Hirotsune Shinji, Wynshaw-Boris Anthony (Jul. 2003). "14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome". Nat. Genet. (United States) 34 (3): 274–85. doi:10.1038/ng1169. ISSN 1061-4036. PMID 12796778. 
  8. ^ Niethammer, M; Smith D S, Ayala R, Peng J, Ko J, Lee M S, Morabito M, Tsai L H (Dec. 2000). "NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein". Neuron (United States) 28 (3): 697–711. doi:10.1016/S0896-6273(00)00147-1. ISSN 0896-6273. PMID 11163260. 
  9. ^ a b Sweeney, K J; Clark G D, Prokscha A, Dobyns W B, Eichele G (Apr. 2000). "Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development". Mech. Dev. (IRELAND) 92 (2): 263–71. doi:10.1016/S0925-4773(00)00242-2. ISSN 0925-4773. PMID 10727864. 
  10. ^ Morris, S M; Albrecht U, Reiner O, Eichele G, Yu-Lee L Y (May. 1998). "The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC". Curr. Biol. (ENGLAND) 8 (10): 603–6. doi:10.1016/S0960-9822(98)70232-5. ISSN 0960-9822. PMID 9601647. 
  11. ^ Sapir, T; Elbaum M, Reiner O (Dec. 1997). "Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit". EMBO J. (ENGLAND) 16 (23): 6977–84. doi:10.1093/emboj/16.23.6977. ISSN 0261-4189. PMC 1170301. PMID 9384577. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1170301. 
  12. ^ Caspi, M; Atlas R, Kantor A, Sapir T, Reiner O (Sep. 2000). "Interaction between LIS1 and doublecortin, two lissencephaly gene products". Hum. Mol. Genet. (ENGLAND) 9 (15): 2205–13. ISSN 0964-6906. PMID 11001923. 

External links

Further reading