PAFAH1B1

From Wikipedia, the free encyclopedia

Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa

PDB rendering based on 1uuj.

Available structures: 1uuj, 1vyh

Identifiers

Symbol(s)

PAFAH1B1; MDCR; LIS1; LIS2; PAFAH

External IDs

OMIM: 601545 MGI: 109520 HomoloGene: 371

Gene ontology
Molecular Function:	• microtubule binding • dynein binding
Cellular Component:	• astral microtubule • kinetochore • nuclear envelope • cytoplasm • centrosome • cytoskeleton • microtubule • microtubule associated complex • cell cortex
Biological Process:	• establishment of mitotic spindle orientation • microtubule cytoskeleton organization and biogenesis • acrosome formation • neuron migration • transport • cell motility • cell cycle • mitosis • signal transduction • multicellular organismal development • nervous system development • neuroblast proliferation • retrograde axon cargo transport • lipid catabolic process • cell differentiation • vesicle transport along microtubule • cell division

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000430 (mRNA)
NP_000421 (protein)

XM_982651 (mRNA)
XP_987745 (protein)

Location

Chr 17: 2.44 - 2.54 Mb

Chr 11: 74.49 - 74.54 Mb

Pubmed search

[1]

[2]

Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa, also known as PAFAH1B1, is a human gene.^[1]

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.^[1]

[edit] See also

platelet-activating factor

[edit] References

^ ^a ^b Entrez Gene: PAFAH1B1 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa.

[edit] Further reading

Tjoelker LW, Eberhardt C, Wilder C, et al. (1997). "Functional and structural features of plasma platelet-activating factor acetylhydrolase.". Adv. Exp. Med. Biol. 416: 107–11. PMID 9131135.
Stafforini DM, McIntyre TM, Zimmerman GA, Prescott SM (1997). "Platelet-activating factor acetylhydrolases.". J. Biol. Chem. 272 (29): 17895–8. PMID 9218411.
Yamada Y, Yokota M (1998). "Roles of plasma platelet-activating factor acetylhydrolase in allergic, inflammatory, and atherosclerotic diseases.". Jpn. Circ. J. 62 (5): 328–35. PMID 9626899.
Reiner O, Cahana A, Escamez T, Martinez S (2002). "LIS1-no more no less.". Mol. Psychiatry 7 (1): 12–6. doi:10.1038/sj/mp/4000975. PMID 11803439.
Guerrini R, Carrozzo R (2002). "Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.". Seizure : the journal of the British Epilepsy Association 11 Suppl A: 532–43; quiz 544–7. PMID 12185771.
Wynshaw-Boris A (2007). "Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development.". Clin. Genet. 72 (4): 296–304. doi:10.1111/j.1399-0004.2007.00888.x. PMID 17850624.
Mizuguchi M, Takashima S, Kakita A, et al. (1995). "Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome.". Am. J. Pathol. 147 (4): 1142–51. PMID 7573359.
Hattori M, Adachi H, Tsujimoto M, et al. (1994). "Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]". Nature 370 (6486): 216–8. doi:10.1038/370216a0. PMID 8028668.
Reiner O, Carrozzo R, Shen Y, et al. (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.
Reiner O, Bar-Am I, Sapir T, et al. (1996). "LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2.". Genomics 30 (2): 251–6. doi:10.1006/geno.1995.9880. PMID 8586424.
Isumi H, Takashima S, Kakita A, et al. (1997). "Expression of the LIS-1 gene product in brain anomalies with a migration disorder.". Pediatr. Neurol. 16 (1): 42–4. PMID 9044400.
Lo Nigro C, Chong CS, Smith AC, et al. (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. PMID 9063735.
Sapir T, Elbaum M, Reiner O (1998). "Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit.". EMBO J. 16 (23): 6977–84. doi:10.1093/emboj/16.23.6977. PMID 9384577.
Morris SM, Albrecht U, Reiner O, et al. (1998). "The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC.". Curr. Biol. 8 (10): 603–6. PMID 9601647.
Pilz DT, Kuc J, Matsumoto N, et al. (2000). "Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1.". Hum. Mol. Genet. 8 (9): 1757–60. PMID 10441340.
Sapir T, Cahana A, Seger R, et al. (1999). "LIS1 is a microtubule-associated phosphoprotein.". Eur. J. Biochem. 265 (1): 181–8. PMID 10491172.
Sweeney KJ, Clark GD, Prokscha A, et al. (2000). "Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development.". Mech. Dev. 92 (2): 263–71. PMID 10727864.