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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Platelet-activating factor acetylhydrolase IB subunit alpha''' is an [[enzyme]] that in humans is encoded by the ''PAFAH1B1'' [[gene]].<ref name="pmid8355785">{{cite journal | vauthors = Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH | title = Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats | journal = Nature | volume = 364 | issue = 6439 | pages = 717–21 | date = Aug 1993 | pmid = 8355785 | pmc =  | doi = 10.1038/364717a0 }}</ref><ref name="pmid9063735">{{cite journal | vauthors = Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH | title = Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome | journal = Human Molecular Genetics | volume = 6 | issue = 2 | pages = 157–64 | date = Feb 1997 | pmid = 9063735 | pmc =  | doi = 10.1093/hmg/6.2.157 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PAFAH1B1 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5048| accessdate = }}</ref> The protein is often referred to as Lis1 and plays an important role in regulating the motor protein [[Dynein]].<ref>{{cite journal | vauthors = Kardon JR, Vale RD | title = Regulators of the cytoplasmic dynein motor | journal = Nature Reviews Molecular Cell Biology | volume = 10 | issue = 12 | pages = 854–65 | date = Dec 2009 | pmid = 19935668 | doi = 10.1038/nrm2804 | url = http://www.nature.com/nrm/journal/v10/n12/abs/nrm2804.html | pmc=3394690}}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = no
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}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image = PBB_Protein_PAFAH1B1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1uuj.
| PDB = {{PDB2|1uuj}}, {{PDB2|1vyh}}
| Name = Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa
| HGNCid = 8574
| Symbol = PAFAH1B1
| AltSymbols =; MDCR; LIS1; LIS2; PAFAH
| OMIM = 601545
| ECnumber = 
| Homologene = 371
| MGIid = 109520
| GeneAtlas_image1 = PBB_GE_PAFAH1B1_211547_s_at_tn.png
| Function = {{GNF_GO|id=GO:0008017 |text = microtubule binding}} {{GNF_GO|id=GO:0045502 |text = dynein binding}}
| Component = {{GNF_GO|id=GO:0000235 |text = astral microtubule}} {{GNF_GO|id=GO:0000776 |text = kinetochore}} {{GNF_GO|id=GO:0005635 |text = nuclear envelope}} {{GNF_GO|id=GO:0005737 |text = cytoplasm}} {{GNF_GO|id=GO:0005813 |text = centrosome}} {{GNF_GO|id=GO:0005856 |text = cytoskeleton}} {{GNF_GO|id=GO:0005874 |text = microtubule}} {{GNF_GO|id=GO:0005875 |text = microtubule associated complex}} {{GNF_GO|id=GO:0005938 |text = cell cortex}}
| Process = {{GNF_GO|id=GO:0000132 |text = establishment of mitotic spindle orientation}} {{GNF_GO|id=GO:0000226 |text = microtubule cytoskeleton organization and biogenesis}} {{GNF_GO|id=GO:0001675 |text = acrosome formation}} {{GNF_GO|id=GO:0001764 |text = neuron migration}} {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0006928 |text = cell motility}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0007067 |text = mitosis}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0007405 |text = neuroblast proliferation}} {{GNF_GO|id=GO:0008090 |text = retrograde axon cargo transport}} {{GNF_GO|id=GO:0016042 |text = lipid catabolic process}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}} {{GNF_GO|id=GO:0047496 |text = vesicle transport along microtubule}} {{GNF_GO|id=GO:0051301 |text = cell division}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 5048
    | Hs_Ensembl = ENSG00000007168
    | Hs_RefseqProtein = NP_000421
    | Hs_RefseqmRNA = NM_000430
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 17
    | Hs_GenLoc_start = 2443686
    | Hs_GenLoc_end = 2535638
    | Hs_Uniprot = P43034
    | Mm_EntrezGene = 18472
    | Mm_Ensembl = ENSMUSG00000020745
    | Mm_RefseqmRNA = XM_982651
    | Mm_RefseqProtein = XP_987745
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 74490144
    | Mm_GenLoc_end = 74540865
    | Mm_Uniprot = Q3TUH5
  }}
}}
'''Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa''', also known as '''PAFAH1B1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PAFAH1B1 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5048| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: PAFAH1B1 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5048| accessdate = }}</ref>
}}


==See also==
According to one study, PAFAH1B1 interacts with [[VLDLR]] receptor activated by [[reelin]].<ref name="Zhang_2007_Pafah1b">{{cite journal | vauthors = Zhang G, Assadi AH, McNeil RS, Beffert U, Wynshaw-Boris A, Herz J, Clark GD, D'Arcangelo G | title = The Pafah1b complex interacts with the reelin receptor VLDLR | journal = PLOS ONE | volume = 2 | issue = 2 | pages = e252 | year = 2007 | pmid = 17330141 | pmc = 1800349 | doi = 10.1371/journal.pone.0000252 | editor1-last = Mueller | editor1-first = Ulrich }}</ref>
 
==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 [[Protein-protein interaction|interact]] with [[DYNC1H1]],<ref name=pmid11889140>{{cite journal | vauthors = Tai CY, Dujardin DL, Faulkner NE, Vallee RB | title = Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function | journal = The Journal of Cell Biology | volume = 156 | issue = 6 | pages = 959–68 | date = Mar 2002 | pmid = 11889140 | pmc = 2173479 | doi = 10.1083/jcb.200109046 }}</ref> [[CLIP1]],<ref name=pmid11940666>{{cite journal | vauthors = 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 | title = LIS1, CLIP-170's key to the dynein/dynactin pathway | journal = Molecular and Cellular Biology | volume = 22 | issue = 9 | pages = 3089–102 | date = May 2002 | pmid = 11940666 | pmc = 133759 | doi = 10.1128/MCB.22.9.3089-3102.2002 }}</ref> [[NDEL1]],<ref name=pmid12796778>{{cite journal | vauthors = 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 | title = 14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome | journal = Nature Genetics | volume = 34 | issue = 3 | pages = 274–85 | date = Jul 2003 | pmid = 12796778 | doi = 10.1038/ng1169 }}</ref><ref name=pmid11163260>{{cite journal | vauthors = Niethammer M, Smith DS, Ayala R, Peng J, Ko J, Lee MS, Morabito M, Tsai LH | title = NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein | journal = Neuron | volume = 28 | issue = 3 | pages = 697–711 | date = Dec 2000 | pmid = 11163260 | doi = 10.1016/S0896-6273(00)00147-1 }}</ref> [[NDE1]],<ref>{{cite journal | vauthors = Efimov VP, Morris NR | title = The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE/RO11 protein | journal = The Journal of Cell Biology | volume = 150 | issue = 3 | pages = 681–8 | date = Aug 2000 | pmid = 10931877 | pmc = 2175200 | doi = 10.1083/jcb.150.3.681 }}</ref>  [[PAFAH1B3]],<ref name=pmid10727864>{{cite journal | vauthors = Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G | title = Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development | journal = Mechanisms of Development | volume = 92 | issue = 2 | pages = 263–71 | date = Apr 2000 | pmid = 10727864 | doi = 10.1016/S0925-4773(00)00242-2 }}</ref> [[PAFAH1B2]],<ref name=pmid10727864/> [[NUDC]],<ref name=pmid9601647>{{cite journal | vauthors = Morris SM, Albrecht U, Reiner O, Eichele G, Yu-Lee LY | title = The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC | journal = Current Biology | volume = 8 | issue = 10 | pages = 603–6 | date = May 1998 | pmid = 9601647 | doi = 10.1016/S0960-9822(98)70232-5 }}</ref> [[TUBA1A]]<ref name=pmid9384577>{{cite journal | vauthors = Sapir T, Elbaum M, Reiner O | title = Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit | journal = The EMBO Journal | volume = 16 | issue = 23 | pages = 6977–84 | date = Dec 1997 | pmid = 9384577 | pmc = 1170301 | doi = 10.1093/emboj/16.23.6977 }}</ref> and [[Doublecortin]].<ref name=pmid11001923>{{cite journal | vauthors = Caspi M, Atlas R, Kantor A, Sapir T, Reiner O | title = Interaction between LIS1 and doublecortin, two lissencephaly gene products | journal = Human Molecular Genetics | volume = 9 | issue = 15 | pages = 2205–13 | date = Sep 2000 | pmid = 11001923 | doi = 10.1093/oxfordjournals.hmg.a018911 }}</ref>
 
== See also ==
* [[platelet-activating factor]]
* [[platelet-activating factor]]
* [[PAFAH1B2]]
* [[PAFAH1B3]]
{{Clear}}


==References==
== References ==
{{reflist|2}}
{{reflist|33em}}


==Further reading==
== Further reading ==
{{refbegin | 2}}
{{refbegin|33em}}
{{PBB_Further_reading
* {{cite journal | vauthors = Tjoelker LW, Eberhardt C, Wilder C, Dietsch G, Trong HL, Cousens LS, Zimmerman GA, McIntyre TM, Stafforini DM, Prescott SM, Gray PW | title = Functional and structural features of plasma platelet-activating factor acetylhydrolase | journal = Advances in Experimental Medicine and Biology | volume = 416 | issue =  | pages = 107–11 | year = 1997 | pmid = 9131135 | doi =  10.1007/978-1-4899-0179-8_19}}
| citations =
* {{cite journal | vauthors = Stafforini DM, McIntyre TM, Zimmerman GA, Prescott SM | title = Platelet-activating factor acetylhydrolases | journal = The Journal of Biological Chemistry | volume = 272 | issue = 29 | pages = 17895–8 | date = Jul 1997 | pmid = 9218411 | doi = 10.1074/jbc.272.29.17895 }}
*{{cite journal | author=Tjoelker LW, Eberhardt C, Wilder C, ''et al.'' |title=Functional and structural features of plasma platelet-activating factor acetylhydrolase. |journal=Adv. Exp. Med. Biol. |volume=416 |issue=  |pages= 107-11 |year= 1997 |pmid= 9131135 |doi=  }}
* {{cite journal | vauthors = Yamada Y, Yokota M | title = Roles of plasma platelet-activating factor acetylhydrolase in allergic, inflammatory, and atherosclerotic diseases | journal = Japanese Circulation Journal | volume = 62 | issue = 5 | pages = 328–35 | date = May 1998 | pmid = 9626899 | doi = 10.1253/jcj.62.328 }}
*{{cite journal | author=Stafforini DM, McIntyre TM, Zimmerman GA, Prescott SM |title=Platelet-activating factor acetylhydrolases. |journal=J. Biol. Chem. |volume=272 |issue= 29 |pages= 17895-8 |year= 1997 |pmid= 9218411 |doi= }}
* {{cite journal | vauthors = Reiner O, Cahana A, Escamez T, Martinez S | title = LIS1-no more no less | journal = Molecular Psychiatry | volume = 7 | issue = 1 | pages = 12–6 | year = 2002 | pmid = 11803439 | doi = 10.1038/sj/mp/4000975 }}
*{{cite journal | author=Yamada Y, Yokota M |title=Roles of plasma platelet-activating factor acetylhydrolase in allergic, inflammatory, and atherosclerotic diseases. |journal=Jpn. Circ. J. |volume=62 |issue= 5 |pages= 328-35 |year= 1998 |pmid= 9626899 |doi= }}
* {{cite journal | vauthors = Guerrini R, Carrozzo R | title = Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing | journal = Seizure | volume = 11 Suppl A | issue =  | pages = 532–43; quiz 544–7 | date = Apr 2002 | pmid = 12185771 | doi =  10.1053/seiz.2001.0650}}
*{{cite journal | author=Reiner O, Cahana A, Escamez T, Martinez S |title=LIS1-no more no less. |journal=Mol. Psychiatry |volume=7 |issue= 1 |pages= 12-6 |year= 2002 |pmid= 11803439 |doi= 10.1038/sj/mp/4000975 }}
* {{cite journal | vauthors = Wynshaw-Boris A | title = Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development | journal = Clinical Genetics | volume = 72 | issue = 4 | pages = 296–304 | date = Oct 2007 | pmid = 17850624 | doi = 10.1111/j.1399-0004.2007.00888.x }}
*{{cite journal | author=Guerrini R, Carrozzo R |title=Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. |journal=Seizure : the journal of the British Epilepsy Association |volume=11 Suppl A |issue=  |pages= 532-43; quiz 544-7 |year= 2002 |pmid= 12185771 |doi=  }}
* {{cite journal | vauthors = Mizuguchi M, Takashima S, Kakita A, Yamada M, Ikeda K | title = Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome | journal = The American Journal of Pathology | volume = 147 | issue = 4 | pages = 1142–51 | date = Oct 1995 | pmid = 7573359 | pmc = 1870994 | doi =  }}
*{{cite journal | author=Wynshaw-Boris A |title=Lissencephaly and LIS1: insights into the molecular mechanisms of neuronal migration and development. |journal=Clin. Genet. |volume=72 |issue= 4 |pages= 296-304 |year= 2007 |pmid= 17850624 |doi= 10.1111/j.1399-0004.2007.00888.x }}
* {{cite journal | vauthors = Hattori M, Adachi H, Tsujimoto M, Arai H, Inoue K | title = Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected] | journal = Nature | volume = 370 | issue = 6486 | pages = 216–8 | date = Jul 1994 | pmid = 8028668 | doi = 10.1038/370216a0 }}
*{{cite journal | author=Mizuguchi M, Takashima S, Kakita A, ''et al.'' |title=Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. |journal=Am. J. Pathol. |volume=147 |issue= 4 |pages= 1142-51 |year= 1995 |pmid= 7573359 |doi=  }}
* {{cite journal | vauthors = Reiner O, Bar-Am I, Sapir T, Shmueli O, Carrozzo R, Lindsay EA, Baldini A, Ledbetter DH, Cahana A | title = LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2 | journal = Genomics | volume = 30 | issue = 2 | pages = 251–6 | date = Nov 1995 | pmid = 8586424 | doi = 10.1006/geno.1995.9880 }}
*{{cite journal | author=Hattori M, Adachi H, Tsujimoto M, ''et al.'' |title=Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected] |journal=Nature |volume=370 |issue= 6486 |pages= 216-8 |year= 1994 |pmid= 8028668 |doi= 10.1038/370216a0 }}
* {{cite journal | vauthors = Isumi H, Takashima S, Kakita A, Yamada M, Ikeda K, Mizuguchi M | title = Expression of the LIS-1 gene product in brain anomalies with a migration disorder | journal = Pediatric Neurology | volume = 16 | issue = 1 | pages = 42–4 | date = Jan 1997 | pmid = 9044400 | doi = 10.1016/S0887-8994(96)00260-3 }}
*{{cite journal | author=Reiner O, Carrozzo R, Shen Y, ''et al.'' |title=Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. |journal=Nature |volume=364 |issue= 6439 |pages= 717-21 |year= 1993 |pmid= 8355785 |doi= 10.1038/364717a0 }}
* {{cite journal | vauthors = Sapir T, Elbaum M, Reiner O | title = Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit | journal = The EMBO Journal | volume = 16 | issue = 23 | pages = 6977–84 | date = Dec 1997 | pmid = 9384577 | pmc = 1170301 | doi = 10.1093/emboj/16.23.6977 }}
*{{cite journal  | author=Reiner O, Bar-Am I, Sapir T, ''et al.'' |title=LIS2, gene and pseudogene, homologous to LIS1 (lissencephaly 1), located on the short and long arms of chromosome 2. |journal=Genomics |volume=30 |issue= 2 |pages= 251-6 |year= 1996 |pmid= 8586424 |doi= 10.1006/geno.1995.9880 }}
* {{cite journal | vauthors = Morris SM, Albrecht U, Reiner O, Eichele G, Yu-Lee LY | title = The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC | journal = Current Biology | volume = 8 | issue = 10 | pages = 603–6 | date = May 1998 | pmid = 9601647 | doi = 10.1016/S0960-9822(98)70232-5 }}
*{{cite journal | author=Isumi H, Takashima S, Kakita A, ''et al.'' |title=Expression of the LIS-1 gene product in brain anomalies with a migration disorder. |journal=Pediatr. Neurol. |volume=16 |issue= 1 |pages= 42-4 |year= 1997 |pmid= 9044400 |doi= }}
* {{cite journal | vauthors = Pilz DT, Kuc J, Matsumoto N, Bodurtha J, Bernadi B, Tassinari CA, Dobyns WB, Ledbetter DH | title = Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1 | journal = Human Molecular Genetics | volume = 8 | issue = 9 | pages = 1757–60 | date = Sep 1999 | pmid = 10441340 | doi = 10.1093/hmg/8.9.1757 }}
*{{cite journal  | author=Lo Nigro C, Chong CS, Smith AC, ''et al.'' |title=Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 2 |pages= 157-64 |year= 1997 |pmid= 9063735 |doi=  }}
* {{cite journal | vauthors = Sapir T, Cahana A, Seger R, Nekhai S, Reiner O | title = LIS1 is a microtubule-associated phosphoprotein | journal = European Journal of Biochemistry / FEBS | volume = 265 | issue = 1 | pages = 181–8 | date = Oct 1999 | pmid = 10491172 | doi = 10.1046/j.1432-1327.1999.00711.x }}
*{{cite journal | author=Sapir T, Elbaum M, Reiner O |title=Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit. |journal=EMBO J. |volume=16 |issue= 23 |pages= 6977-84 |year= 1998 |pmid= 9384577 |doi= 10.1093/emboj/16.23.6977 }}
* {{cite journal | vauthors = Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G | title = Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development | journal = Mechanisms of Development | volume = 92 | issue = 2 | pages = 263–71 | date = Apr 2000 | pmid = 10727864 | doi = 10.1016/S0925-4773(00)00242-2 }}
*{{cite journal | author=Morris SM, Albrecht U, Reiner O, ''et al.'' |title=The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC. |journal=Curr. Biol. |volume=8 |issue= 10 |pages= 603-6 |year= 1998 |pmid= 9601647 |doi= }}
*{{cite journal | author=Pilz DT, Kuc J, Matsumoto N, ''et al.'' |title=Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX (XLIS) or LIS1. |journal=Hum. Mol. Genet. |volume=8 |issue= 9 |pages= 1757-60 |year= 2000 |pmid= 10441340 |doi= }}
*{{cite journal | author=Sapir T, Cahana A, Seger R, ''et al.'' |title=LIS1 is a microtubule-associated phosphoprotein. |journal=Eur. J. Biochem. |volume=265 |issue= 1 |pages= 181-8 |year= 1999 |pmid= 10491172 |doi= }}
*{{cite journal | author=Sweeney KJ, Clark GD, Prokscha A, ''et al.'' |title=Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development. |journal=Mech. Dev. |volume=92 |issue= 2 |pages= 263-71 |year= 2000 |pmid= 10727864 |doi= }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{genetics-stub}}
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=chrom17-lis  GeneReview/NIH/UW entry on LIS1-Associated Lissencephaly/Subcortical Band Heterotopia]
{{WikiDoc Sources}}
 
{{PDB Gallery|geneid=5048}}
 
{{PAF signaling}}

Latest revision as of 17:29, 7 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Platelet-activating factor acetylhydrolase IB subunit alpha is an enzyme that in humans is encoded by the PAFAH1B1 gene.[1][2][3] The protein is often referred to as Lis1 and plays an important role in regulating the motor protein Dynein.[4]

Function

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.[5]

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,[6] CLIP1,[7] NDEL1,[8][9] NDE1,[10] PAFAH1B3,[11] PAFAH1B2,[11] NUDC,[12] TUBA1A[13] and Doublecortin.[14]

See also

References

  1. ↑ Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH (Aug 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 (Feb 1997). "Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome". Human Molecular Genetics. 6 (2): 157–64. doi:10.1093/hmg/6.2.157. PMID 9063735.
  3. ↑ 3.0 3.1 "Entrez Gene: PAFAH1B1 platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa".
  4. ↑ Kardon JR, Vale RD (Dec 2009). "Regulators of the cytoplasmic dynein motor". Nature Reviews Molecular Cell Biology. 10 (12): 854–65. doi:10.1038/nrm2804. PMC 3394690. PMID 19935668.
  5. ↑ Zhang G, Assadi AH, McNeil RS, Beffert U, Wynshaw-Boris A, Herz J, Clark GD, D'Arcangelo G (2007). Mueller U, 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.
  6. ↑ Tai CY, Dujardin DL, Faulkner NE, Vallee RB (Mar 2002). "Role of dynein, dynactin, and CLIP-170 interactions in LIS1 kinetochore function". The Journal of Cell Biology. 156 (6): 959–68. doi:10.1083/jcb.200109046. PMC 2173479. PMID 11889140.
  7. ↑ 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 (May 2002). "LIS1, CLIP-170's key to the dynein/dynactin pathway". Molecular and Cellular Biology. 22 (9): 3089–102. doi:10.1128/MCB.22.9.3089-3102.2002. PMC 133759. PMID 11940666.
  8. ↑ 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 (Jul 2003). "14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome". Nature Genetics. 34 (3): 274–85. doi:10.1038/ng1169. PMID 12796778.
  9. ↑ Niethammer M, Smith DS, Ayala R, Peng J, Ko J, Lee MS, Morabito M, Tsai LH (Dec 2000). "NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein". Neuron. 28 (3): 697–711. doi:10.1016/S0896-6273(00)00147-1. PMID 11163260.
  10. ↑ Efimov VP, Morris NR (Aug 2000). "The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE/RO11 protein". The Journal of Cell Biology. 150 (3): 681–8. doi:10.1083/jcb.150.3.681. PMC 2175200. PMID 10931877.
  11. ↑ 11.0 11.1 Sweeney KJ, Clark GD, Prokscha A, Dobyns WB, Eichele G (Apr 2000). "Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development". Mechanisms of Development. 92 (2): 263–71. doi:10.1016/S0925-4773(00)00242-2. PMID 10727864.
  12. ↑ Morris SM, Albrecht U, Reiner O, Eichele G, Yu-Lee LY (May 1998). "The lissencephaly gene product Lis1, a protein involved in neuronal migration, interacts with a nuclear movement protein, NudC". Current Biology. 8 (10): 603–6. doi:10.1016/S0960-9822(98)70232-5. PMID 9601647.
  13. ↑ Sapir T, Elbaum M, Reiner O (Dec 1997). "Reduction of microtubule catastrophe events by LIS1, platelet-activating factor acetylhydrolase subunit". The EMBO Journal. 16 (23): 6977–84. doi:10.1093/emboj/16.23.6977. PMC 1170301. PMID 9384577.
  14. ↑ Caspi M, Atlas R, Kantor A, Sapir T, Reiner O (Sep 2000). "Interaction between LIS1 and doublecortin, two lissencephaly gene products". Human Molecular Genetics. 9 (15): 2205–13. doi:10.1093/oxfordjournals.hmg.a018911. PMID 11001923.

Further reading

External links

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