John Landers, PhD: Mutations in the profilin 1 gene cause familial ALS

Channel: UMassMedicalSchool   |   2012/07/17
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John Landers, PhD: Mutations in the profilin 1 gene cause familial ALS
John Landers, PhD: Mutations in the profilin 1 gene cause familial ALS
::2012/07/17::
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WWE 24/7 - Stylin
WWE 24/7 - Stylin' and Profilin'
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Profilin
Profilin
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Ric Flair Stylin and Profilin Episode 1
Ric Flair Stylin and Profilin Episode 1
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Let's Play Steamworld Dig - Ep. 1 - Steampunk Minin' & Profilin'
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GloryDaysTV - Stylin
GloryDaysTV - Stylin' and Profilin'
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The Whitehead Brothers 1986 Stylin & Profilin
The Whitehead Brothers 1986 Stylin & Profilin
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Mario Kart Wii: Stylin and Profilin - Part 1
Mario Kart Wii: Stylin and Profilin - Part 1
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Dirt Showdown Achievement Guide - Stylin
Dirt Showdown Achievement Guide - Stylin' and Profilin'
::2012/05/27::
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Profilin =)
Profilin =)
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JAYDAD THE GRATE (SPENDING) RACIAL PROFILIN.. LOYALTY FAMILY..
JAYDAD THE GRATE (SPENDING) RACIAL PROFILIN.. LOYALTY FAMILY..
::2013/11/01::
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Shiko kush ju ka vizituar profilin ne facebook
Shiko kush ju ka vizituar profilin ne facebook
::2014/01/02::
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Si te kthejme profilin ne fanpage ne facebook - ArditTutorials
Si te kthejme profilin ne fanpage ne facebook - ArditTutorials
::2011/04/22::
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Pfn1 mp4
Pfn1 mp4
::2014/02/05::
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Si ta kthejme profilin e Facebook-ut ne menyren e re
Si ta kthejme profilin e Facebook-ut ne menyren e re
::2012/01/06::
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What
What's Going On! EPA Stylin' & Profilin'
::2013/01/29::
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DiRT Showdown - Stylin and Profilin Achievement Guide
DiRT Showdown - Stylin and Profilin Achievement Guide
::2012/05/28::
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Firefox -- Stylin
Firefox -- Stylin', Profilin' ( Breakdance 2 )
::2013/05/24::
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ShadowTrader Video - 02.02.14 - Stylin
ShadowTrader Video - 02.02.14 - Stylin' & Market Profilin
::2014/02/01::
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Dilatasyon Derz Kesimi Eski Profilin Sökülmesi
Dilatasyon Derz Kesimi Eski Profilin Sökülmesi
::2014/03/21::
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Janette Beckman / The Breaks : Stylin and Profilin 1982-1990
Janette Beckman / The Breaks : Stylin and Profilin 1982-1990
::2008/09/13::
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Si Te Bejme Profilin e Ri ne Facebook.com
Si Te Bejme Profilin e Ri ne Facebook.com
::2011/12/22::
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Stylin
Stylin' and Profilin' - Saints Row 4 PC Co-Op pt.4
::2013/12/01::
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VRASESI SINANAJ PROKURORIA DO TE REALIZOJE PROFILIN PSIKOLOGJIK TE KILLERIT LAJM
VRASESI SINANAJ PROKURORIA DO TE REALIZOJE PROFILIN PSIKOLOGJIK TE KILLERIT LAJM
::2014/02/09::
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JAYDAD THE GRATE(LIVE ON STAGE) RACIAL PROFILIN. LOYALTY FAMILY.
JAYDAD THE GRATE(LIVE ON STAGE) RACIAL PROFILIN. LOYALTY FAMILY.
::2013/07/25::
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regulating actin filament formation
regulating actin filament formation
::2010/11/03::
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The Whitehead Brothers(Kenny And Johnny) - Stylin And Profilin
The Whitehead Brothers(Kenny And Johnny) - Stylin And Profilin
::2010/04/03::
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Si Te Ketheni Profilin Ne Fan Page
Si Te Ketheni Profilin Ne Fan Page
::2011/04/22::
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Stylin
Stylin' & Profilin'
::2012/07/06::
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Edgar "Baby Gervin" Sosa: Stylin
Edgar "Baby Gervin" Sosa: Stylin' and Profilin'... para las Mujeres!
::2009/03/28::
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Clyde
Clyde's Closet: Stylin' & Profilin' in Plaid & Pleats (2/20)
::2013/02/21::
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JAYDAD THE GRATE (PUSSY NIGGA RACIAL PROFILIN)
JAYDAD THE GRATE (PUSSY NIGGA RACIAL PROFILIN)
::2012/12/17::
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Si ta aktizivojm Profilin e ri te facebook..!!
Si ta aktizivojm Profilin e ri te facebook..!!
::2010/12/06::
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JAYDAD THE GRATE (DOORS UP) RACIAL PROFILIN MIXTAPE PREVIEW
JAYDAD THE GRATE (DOORS UP) RACIAL PROFILIN MIXTAPE PREVIEW
::2013/03/16::
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WYND CHYMES - stylin
WYND CHYMES - stylin', smylin' & profilin' - 1982
::2012/09/19::
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Profilin - Analyzing People , Simplfying Decisions
Profilin - Analyzing People , Simplfying Decisions
::2013/01/30::
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JunShi PKT - Stylin, Profilin, and Electrifyin
JunShi PKT - Stylin, Profilin, and Electrifyin
::2009/07/13::
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Si te aktivizosh profilin ri ne Facebook - Timeline
Si te aktivizosh profilin ri ne Facebook - Timeline
::2011/11/20::
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Schecter Tempest Custom Takes Its Tuxedo Appointments All Stylin
Schecter Tempest Custom Takes Its Tuxedo Appointments All Stylin' And Profilin' To The Musical Prom
::2009/03/19::
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Stylin
Stylin' N' Profilin'
::2014/04/12::
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Stylin and Profilin (Day 4)
Stylin and Profilin (Day 4)
::2009/08/05::
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Si te "aktivizojme" profilin e ri ne Facebook
Si te "aktivizojme" profilin e ri ne Facebook
::2010/12/20::
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De Blasio on stop and frisk; too many Dems against profilin
De Blasio on stop and frisk; too many Dems against profilin
::2013/08/07::
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DiRT Showdown - Stylin
DiRT Showdown - Stylin' and Profilin' Achievement/Trophy Guide
::2012/06/12::
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newLEGACYinc Stylin And Racial Profilin
newLEGACYinc Stylin And Racial Profilin
::2013/11/03::
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The Whitehead Brothers Stylin
The Whitehead Brothers Stylin' and Profilin'
::2011/06/26::
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Profilin
Profilin' - Analyzing People , Simplifying Decisions
::2013/01/31::
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YTP: Stylin
YTP: Stylin' and Profilin'
::2009/08/11::
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FUNNY stylin
FUNNY stylin' and profilin'
::2009/01/05::
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Dirt ShowDown Stylin And Profilin Achievement
Dirt ShowDown Stylin And Profilin Achievement
::2012/08/07::
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Profilin 1

PDB rendering based on 1awi.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols PFN1 ; ALS18
External IDs OMIM176610 MGI97549 HomoloGene3684 GeneCards: PFN1 Gene
RNA expression pattern
PBB GE PFN1 200634 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5216 18643
Ensembl ENSG00000108518 ENSMUSG00000018293
UniProt P07737 P62962
RefSeq (mRNA) NM_005022 NM_011072
RefSeq (protein) NP_005013 NP_035202
Location (UCSC) Chr 17:
4.85 – 4.85 Mb
Chr 11:
70.65 – 70.65 Mb
PubMed search [1] [2]

Profilin-1 is a protein that in humans is encoded by the PFN1 gene.[1][2]

The protein encoded by this gene is a ubiquitous actin monomer-binding protein belonging to the profilin family. It is thought to regulate actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome.[3]

Interactions[edit]

Profilin 1 has been shown to interact with WASF1,[4] FMNL1,[5] WASL,[6][7] MLLT4[8] and Vasodilator-stimulated phosphoprotein.[9]

References[edit]

  1. ^ Kwiatkowski DJ, Bruns GA (May 1988). "Human profilin. Molecular cloning, sequence comparison, and chromosomal analysis". J Biol Chem 263 (12): 5910–5. PMID 3356709. 
  2. ^ Kwiatkowski DJ, Aklog L, Ledbetter DH, Morton CC (April 1990). "Identification of the functional profilin gene, its localization to chromosome subband 17p13.3, and demonstration of its deletion in some patients with Miller-Dieker syndrome". Am J Hum Genet 46 (3): 559–67. PMC 1683621. PMID 1968707. 
  3. ^ "Entrez Gene: PFN1 profilin 1". 
  4. ^ Miki, H; Suetsugu S, Takenawa T (December 1998). "WAVE, a novel WASP-family protein involved in actin reorganization induced by Rac". EMBO J. (ENGLAND) 17 (23): 6932–41. doi:10.1093/emboj/17.23.6932. ISSN 0261-4189. PMC 1171041. PMID 9843499. 
  5. ^ Yayoshi-Yamamoto, S; Taniuchi I, Watanabe T (September 2000). "FRL, a Novel Formin-Related Protein, Binds to Rac and Regulates Cell Motility and Survival of Macrophages". Mol. Cell. Biol. (UNITED STATES) 20 (18): 6872–81. doi:10.1128/MCB.20.18.6872-6881.2000. ISSN 0270-7306. PMC 86228. PMID 10958683. 
  6. ^ Mimuro, H; Suzuki T, Suetsugu S, Miki H, Takenawa T, Sasakawa C (September 2000). "Profilin is required for sustaining efficient intra- and intercellular spreading of Shigella flexneri". J. Biol. Chem. (UNITED STATES) 275 (37): 28893–901. doi:10.1074/jbc.M003882200. ISSN 0021-9258. PMID 10867004. 
  7. ^ Suetsugu, S; Miki H, Takenawa T (November 1998). "The essential role of profilin in the assembly of actin for microspike formation". EMBO J. (ENGLAND) 17 (22): 6516–26. doi:10.1093/emboj/17.22.6516. ISSN 0261-4189. PMC 1170999. PMID 9822597. 
  8. ^ Boettner, B; Govek E E, Cross J, Van Aelst L (August 2000). "The junctional multidomain protein AF-6 is a binding partner of the Rap1A GTPase and associates with the actin cytoskeletal regulator profilin". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 97 (16): 9064–9. doi:10.1073/pnas.97.16.9064. ISSN 0027-8424. PMC 16822. PMID 10922060. 
  9. ^ Harbeck, B; Hüttelmaier S, Schluter K, Jockusch B M, Illenberger S (October 2000). "Phosphorylation of the vasodilator-stimulated phosphoprotein regulates its interaction with actin". J. Biol. Chem. (UNITED STATES) 275 (40): 30817–25. doi:10.1074/jbc.M005066200. ISSN 0021-9258. PMID 10882740. 

Further reading[edit]



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