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Homo sapiens phosphatase and actin regulator 1 (PHACTR1), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_030948 Homo sapiens phosphatase and actin regulator 1 (PHACTR1), mRNA. Full Lenth $623.50
ORF Sequence $505.47


RefSeq Version NM_030948.1, 54144630
Length 2150 bp
Structure linear
Update Date 16-APR-2011
Organism Homo sapiens (human)
Definition Homo sapiens phosphatase and actin regulator 1 (PHACTR1), mRNA.
Product phosphatase and actin regulator 1
Comment

COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK090769.1, AB051520.1, BQ434462.1 and BF026507.1. On Oct 18, 2004 this sequence version replaced gi:51465506.

RefSeq NP_112210.1
CDS 190..1932
Exon (1)1..143
Exon (2)1..143
Exon (3)144..292
Exon (4)293..439
Exon (5)440..604
Exon (6)605..685
Exon (7)686..853
Exon (8)854..1175
Exon (9)1176..1423
Exon (10)1424..1580
Exon (11)1581..1636
Exon (12)1637..1698
Exon (13)1699..1839
Exon (14)1840..1916
Exon (15)1917..2150
Translation MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPI RRVRSKSDTPYLAEARISFNLGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIF KPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSISNEEDSLEN GQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTT GSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLP EIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCR KDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILIRFSDYVEVADAQDYDRRADK PWTRLTAADKAAIRKELNEFKSTEMEVHELSRHLTRFHRP
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Position Chain Variation Link
82+c, tdbSNP:78883632
86+a, gdbSNP:116494039
253..254+, adbSNP:36000655
470+c, gdbSNP:61746695
930+c, gdbSNP:17602409
939+c, tdbSNP:80070708
1089+c, tdbSNP:73725623
1164+a, gdbSNP:61745587
1521+a, cdbSNP:75636874
1719+a, gdbSNP:111555313
1937+c, tdbSNP:114265092
1980+a, cdbSNP:115925343
complement(2022)-t, cdbSNP:693758
Gene SymbolPHACTR1
Gene SynonymdJ257A7.2; KIAA1733; MGC126575; MGC126577; RPEL; RPEL1
Chromosome6
Locus Map6p24.1
All Transcripts NM_030948
Title Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease .
Author Schunkert,H., Konig,I.R., Kathiresan,S., Reilly,M.P., Assimes,T.L., Holm,H., Preuss,M., Stewart,A.F., Barbalic,M., Gieger,C., Absher,D., Aherrahrou,Z., Allayee,H., Altshuler,D., Anand,S.S., Andersen,K., Anderson,J.L., Ardissino,D., Ball,S.G., Balmforth,A.J., Barnes,T.A., Becker,D.M., Becker,L.C., Berger,K., Bis,J.C., Boekholdt,S.M., Boerwinkle,E., Braund,P.S., Brown,M.J., Burnett,M.S., Buysschaert,I., Carlquist,J.F., Chen,L., Cichon,S., Codd,V., Davies,R.W., Dedoussis,G., Dehghan,A., Demissie,S., Devaney,J.M., Diemert,P., Do,R., Doering,A., Eifert,S., Mokhtari,N.E., Ellis,S.G., Elosua,R., Engert,J.C., Epstein,S.E., de Faire,U., Fischer,M., Folsom,A.R., Freyer,J., Gigante,B., Girelli,D., Gretarsdottir,S., Gudnason,V., Gulcher,J.R., Halperin,E., Hammond,N., Hazen,S.L., Hofman,A., Horne,B.D., Illig,T., Iribarren,C., Jones,G.T., Jukema,J.W., Kaiser,M.A., Kaplan,L.M., Kastelein,J.J., Khaw,K.T., Knowles,J.W., Kolovou,G., Kong,A., Laaksonen,R., Lambrechts,D., Leander,K., Lettre,G., Li,M., Lieb,W., Loley,C., Lotery,A.J., Mannucci,P.M., Maouche,S., Martinelli,N., McKeown,P.P., Meisinger,C., Meitinger,T., Melander,O., Merlini,P.A., Mooser,V., Morgan,T., Muhleisen,T.W., Muhlestein,J.B., Munzel,T., Musunuru,K., Nahrstaedt,J., Nelson,C.P., Nothen,M.M., Olivieri,O., Patel,R.S., Patterson,C.C., Peters,A., Peyvandi,F., Qu,L., Quyyumi,A.A., Rader,D.J., Rallidis,L.S., Rice,C., Rosendaal,F.R., Rubin,D., Salomaa,V., Sampietro,M.L., Sandhu,M.S., Schadt,E., Schafer,A., Schillert,A., Schreiber,S., Schrezenmeir,J., Schwartz,S.M., Siscovick,D.S., Sivananthan,M., Sivapalaratnam,S., Smith,A., Smith,T.B., Snoep,J.D., Soranzo,N., Spertus,J.A., Stark,K., Stirrups,K., Stoll,M., Tang,W.H., Tennstedt,S., Thorgeirsson,G., Thorleifsson,G., Tomaszewski,M., Uitterlinden,A.G., van Rij,A.M., Voight,B.F., Wareham,N.J., Wells,G.A., Wichmann,H.E., Wild,P.S., Willenborg,C., Witteman,J.C., Wright,B.J., Ye,S., Zeller,T., Ziegler,A., Cambien,F., Goodall,A.H., Cupples,L.A., Quertermous,T., Marz,W., Hengstenberg,C., Blankenberg,S., Ouwehand,W.H., Hall,A.S., Deloukas,P., Thompson,J.R., Stefansson,K., Roberts,R., Thorsteinsdottir,U., O'Donnell,C.J., McPherson,R., Erdmann,J. and Samani,N.J.
Journal Nat. Genet. 43 (4), 333-338 (2011)
Title A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease .
Author
Journal Nat. Genet. 43 (4), 339-344 (2011)
Title A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses .
Author Ripatti,S., Tikkanen,E., Orho-Melander,M., Havulinna,A.S., Silander,K., Sharma,A., Guiducci,C., Perola,M., Jula,A., Sinisalo,J., Lokki,M.L., Nieminen,M.S., Melander,O., Salomaa,V., Peltonen,L. and Kathiresan,S.
Journal Lancet 376 (9750), 1393-1400 (2010)
Title Additive effect of multiple genetic variants on the risk of coronary artery disease .
Author Lluis-Ganella,C., Lucas,G., Subirana,I., Senti,M., Jimenez-Conde,J., Marrugat,J., Tomas,M. and Elosua,R.
Journal Rev Esp Cardiol 63 (8), 925-933 (2010)
Title Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score .
Author Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R.
Journal Mol. Med. 16 (7-8), 247-253 (2010)
Title Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants .
Author Kathiresan,S., Voight,B.F., Purcell,S., Musunuru,K., Ardissino,D., Mannucci,P.M., Anand,S., Engert,J.C., Samani,N.J., Schunkert,H., Erdmann,J., Reilly,M.P., Rader,D.J., Morgan,T., Spertus,J.A., Stoll,M., Girelli,D., McKeown,P.P., Patterson,C.C., Siscovick,D.S., O'Donnell,C.J., Elosua,R., Peltonen,L., Salomaa,V., Schwartz,S.M., Melander,O., Altshuler,D., Ardissino,D., Merlini,P.A., Berzuini,C., Bernardinelli,L., Peyvandi,F., Tubaro,M., Celli,P., Ferrario,M., Fetiveau,R., Marziliano,N., Casari,G., Galli,M., Ribichini,F., Rossi,M., Bernardi,F., Zonzin,P., Piazza,A., Mannucci,P.M., Schwartz,S.M., Siscovick,D.S., Yee,J., Friedlander,Y., Elosua,R., Marrugat,J., Lucas,G., Subirana,I., Sala,J., Ramos,R., Kathiresan,S., Meigs,J.B., Williams,G., Nathan,D.M., MacRae,C.A., O'Donnell,C.J., Salomaa,V., Havulinna,A.S., Peltonen,L., Melander,O., Berglund,G., Voight,B.F., Kathiresan,S., Hirschhorn,J.N., Asselta,R., Duga,S., Spreafico,M., Musunuru,K., Daly,M.J., Purcell,S., Voight,B.F., Purcell,S., Nemesh,J., Korn,J.M., McCarroll,S.A., Schwartz,S.M., Yee,J., Kathiresan,S., Lucas,G., Subirana,I., Elosua,R., Surti,A., Guiducci,C., Gianniny,L., Mirel,D., Parkin,M., Burtt,N., Gabriel,S.B., Samani,N.J., Thompson,J.R., Braund,P.S., Wright,B.J., Balmforth,A.J., Ball,S.G., Hall,A.S., Schunkert,H., Erdmann,J., Linsel-Nitschke,P., Lieb,W., Ziegler,A., Konig,I., Hengstenberg,C., Fischer,M., Stark,K., Grosshennig,A., Preuss,M., Wichmann,H.E., Schreiber,S., Schunkert,H., Samani,N.J., Erdmann,J., Ouwehand,W., Hengstenberg,C., Deloukas,P., Scholz,M., Cambien,F., Reilly,M.P., Li,M., Chen,Z., Wilensky,R., Matthai,W., Qasim,A., Hakonarson,H.H., Devaney,J., Burnett,M.S., Pichard,A.D., Kent,K.M., Satler,L., Lindsay,J.M., Waksman,R., Knouff,C.W., Waterworth,D.M., Walker,M.C., Mooser,V., Epstein,S.E., Rader,D.J., Scheffold,T., Berger,K., Stoll,M., Huge,A., Girelli,D., Martinelli,N., Olivieri,O., Corrocher,R., Morgan,T., Spertus,J.A., McKeown,P., Patterson,C.C., Schunkert,H., Erdmann,E., Linsel-Nitschke,P., Lieb,W., Ziegler,A., Konig,I.R., Hengstenberg,C., Fischer,M., Stark,K., Grosshennig,A., Preuss,M., Wichmann,H.E., Schreiber,S., Holm,H., Thorleifsson,G., Thorsteinsdottir,U., Stefansson,K., Engert,J.C., Do,R., Xie,C., Anand,S., Kathiresan,S., Ardissino,D., Mannucci,P.M., Siscovick,D., O'Donnell,C.J., Samani,N.J., Melander,O., Elosua,R., Peltonen,L., Salomaa,V., Schwartz,S.M. and Altshuler,D.
Journal Nat. Genet. 41 (3), 334-341 (2009)
Title Genome-wide association with bone mass and geometry in the Framingham Heart Study .
Author Kiel,D.P., Demissie,S., Dupuis,J., Lunetta,K.L., Murabito,J.M. and Karasik,D.
Journal BMC Med. Genet. 8 SUPPL 1, S14 (2007)
Title Phactrs 1-4: A family of protein phosphatase 1 and actin regulatory proteins .
Author Allen,P.B., Greenfield,A.T., Svenningsson,P., Haspeslagh,D.C. and Greengard,P.
Journal Proc. Natl. Acad. Sci. U.S.A. 101 (18), 7187-7192 (2004)
Title The DNA sequence and analysis of human chromosome 6 .
Author Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L., Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E., Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I., Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J., Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O., Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J., Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M., Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K., Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J., Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L., Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P., Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J., Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M., Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A., Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L., Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R., Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M., King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J., Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L., McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J., Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K., Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I., Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y., Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K., Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L., Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J., Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A., Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S., Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E., Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M., Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E., Dunham,I., Rogers,J. and Beck,S.
Journal Nature 425 (6960), 805-811 (2003)

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