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


RefSeq Accession Definition Services Price Order
NM_030948 Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA. ORF Sequence $505.47
Peptide Services
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RefSeq Version NM_030948.2, 336391123
Length 2896 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, 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 DA330657.1, DA253448.1, BC101526.1, AL008729.1 and AA809685.1. On Jun 18, 2011 this sequence version replaced gi:54144630.


Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.


##Evidence-Data-START## CDS exon combination :: AK290017.1, AK090769.1 [ECO:0000331] RNAseq introns :: single sample supports all introns ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_112210.1
CDS 374..2116
Misc Feature(1)296..298
Misc Feature(2)785..862
Misc Feature(3)785..862
Misc Feature(4)791..856
Misc Feature(5)1637..1714
Misc Feature(6)1637..1714
Misc Feature(7)1751..1825
Misc Feature(8)1754..1828
Misc Feature(9)1865..1942
Misc Feature(10)1871..1942
Exon (1)1..92
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (2)93..327
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (3)328..476
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (4)477..623
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (5)624..788
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (6)789..869
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (7)870..1037
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (8)1038..1359
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (9)1360..1607
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (10)1608..1764
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (11)1765..1820
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (12)1821..1882
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (13)1883..2023
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (14)2024..2100
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Exon (15)2101..2881
Gene:PHACTR1
Gene Synonym:dJ257A7.2; RPEL; RPEL1
Translation MDYPKMDYFLDVESAHRLLDVESAQRFFYSQGAQARRATLLLPPTLMAASSEDDIDRRPI RRVRSKSDTPYLAEARISFNLGAAEEVERLAAMRSDSLVPGTHTPPIRRRSKFANLGRIF KPWKWRKKKSEKFKHTSAALERKISMRQSREELIKRGVLKEIYDKDGELSISNEEDSLEN GQSLSSSQLSLPALSEMEPVPMPRDPCSYEVLQPSDIMDGPDPGAPVKLPCLPVKLSPPL PPKKVMICMPVGGPDLSLVSYTAQKSGQQGVAQHHHTVLPSQIQHQLQYGSHGQHLPSTT GSLPMHPSGCRMIDELNKTLAMTMQRLESSEQRVPCSTSYHSSGLHSGDGVTKAGPMGLP EIRQVPTVVIECDDNKENVPHESDYEDSSCLYTREEEEEEEDEDDDSSLYTSSLAMKVCR KDSLAIKLSNRPSKRELEEKNILPRQTDEERLELRQQIGTKLTRRLSQRPTAEELEQRNI LKPRNEQEEQEEKREIKRRLTRKLSQRPTVEELRERKILIRFSDYVEVADAQDYDRRADK PWTRLTAADKAAIRKELNEFKSTEMEVHELSRHLTRFHRP
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Position Chain Variation Link
34+dbSNP:
34+a, gdbSNP:181144323
109+dbSNP:
109+c, tdbSNP:185585909
266+c, tdbSNP:78883632
270+a, gdbSNP:116494039
391+g, tdbSNP:200984506
437..438+, adbSNP:36000655
574+dbSNP:
574+c, tdbSNP:199546311
614+c, tdbSNP:200383533
645+dbSNP:
645+c, gdbSNP:200804785
654+c, gdbSNP:61746695
670+c, tdbSNP:141282814
726+a, gdbSNP:183412001
1114+dbSNP:
1114+c, gdbSNP:17602409
1123+c, tdbSNP:80070708
1273+c, tdbSNP:73725623
1348+a, gdbSNP:61745587
1528+dbSNP:
1528+c, tdbSNP:139729794
1579+c, tdbSNP:200995179
1603+c, tdbSNP:144652575
1660+dbSNP:
1660+c, tdbSNP:143766526
1708+a, gdbSNP:146889071
1903+dbSNP:
1903+a, gdbSNP:111555313
2121+dbSNP:
2121+c, g, tdbSNP:114265092
2162+g, tdbSNP:186017527
2164+a, cdbSNP:115925343
2206+c, tdbSNP:693758
2301+c, tdbSNP:190878673
2349..2350+, cdbSNP:35968832
2354..2355+, gdbSNP:200616252
2455+a, gdbSNP:188024398
2455+, gdbSNP:34931301
2515..2516+, gdbSNP:36077798
2516..2517+, gdbSNP:72358699
2870+a, gdbSNP:183018319
Gene SymbolPHACTR1
Gene SynonymdJ257A7.2; RPEL; RPEL1
Chromosome6
Locus Map6p24.1
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001242648 Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 2, mRNA. Full Length $784.74
ORF Sequence $505.47
NM_030948 Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA. Full Length $839.84
ORF Sequence $505.47
Title Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations .
Author Bevan,S., Traylor,M., Adib-Samii,P., Malik,R., Paul,N.L., Jackson,C., Farrall,M., Rothwell,P.M., Sudlow,C., Dichgans,M. and Markus,H.S.
Journal Stroke 43 (12), 3161-3167 (2012)
Title Genome-wide linkage and association scans for pulse pressure in Chinese twins .
Author Zhang,D., Pang,Z., Li,S., Jiang,W., Wang,S., Thomassen,M., Hjelmborg,J.V., Kruse,T.A., Ohm Kyvik,K., Christensen,K., Zhu,G. and Tan,Q.
Journal Hypertens. Res. 35 (11), 1051-1057 (2012)
Title Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease .
Author Lu,X., Wang,L., Chen,S., He,L., Yang,X., Shi,Y., Cheng,J., Zhang,L., Gu,C.C., Huang,J., Wu,T., Ma,Y., Li,J., Cao,J., Chen,J., Ge,D., Fan,Z., Li,Y., Zhao,L., Li,H., Zhou,X., Chen,L., Liu,D., Chen,J., Duan,X., Hao,Y., Wang,L., Lu,F., Liu,Z., Yao,C., Shen,C., Pu,X., Yu,L., Fang,X., Xu,L., Mu,J., Wu,X., Zheng,R., Wu,N., Zhao,Q., Li,Y., Liu,X., Wang,M., Yu,D., Hu,D., Ji,X., Guo,D., Sun,D., Wang,Q., Yang,Y., Liu,F., Mao,Q., Liang,X., Ji,J., Chen,P., Mo,X., Li,D., Chai,G., Tang,Y., Li,X., Du,Z., Liu,X., Dou,C., Yang,Z., Meng,Q., Wang,D., Wang,R., Yang,J., Schunkert,H., Samani,N.J., Kathiresan,S., Reilly,M.P., Erdmann,J., Peng,X., Wu,X., Liu,D., Yang,Y., Chen,R., Qiang,B. and Gu,D.
Journal Nat. Genet. 44 (8), 890-894 (2012)
Title Genome-wide association analysis identifies susceptibility loci for migraine without aura .
Author Freilinger,T., Anttila,V., de Vries,B., Malik,R., Kallela,M., Terwindt,G.M., Pozo-Rosich,P., Winsvold,B., Nyholt,D.R., van Oosterhout,W.P., Artto,V., Todt,U., Hamalainen,E., Fernandez-Morales,J., Louter,M.A., Kaunisto,M.A., Schoenen,J., Raitakari,O., Lehtimaki,T., Vila-Pueyo,M., Gobel,H., Wichmann,E., Sintas,C., Uitterlinden,A.G., Hofman,A., Rivadeneira,F., Heinze,A., Tronvik,E., van Duijn,C.M., Kaprio,J., Cormand,B., Wessman,M., Frants,R.R., Meitinger,T., Muller-Myhsok,B., Zwart,J.A., Farkkila,M., Macaya,A., Ferrari,M.D., Kubisch,C., Palotie,A., Dichgans,M. and van den Maagdenberg,A.M.
Journal Nat. Genet. 44 (7), 777-782 (2012)
Title Neuropilin-1 regulates a new VEGF-induced gene, Phactr-1, which controls tubulogenesis and modulates lamellipodial dynamics in human endothelial cells .
Author Allain,B., Jarray,R., Borriello,L., Leforban,B., Dufour,S., Liu,W.Q., Pamonsinlapatham,P., Bianco,S., Larghero,J., Hadj-Slimane,R., Garbay,C., Raynaud,F. and Lepelletier,Y.
Journal Cell. Signal. 24 (1), 214-223 (2012)
Title Genome-wide association study in a Lebanese cohort confirms PHACTR1 as a major determinant of coronary artery stenosis .
Author Hager,J., Kamatani,Y., Cazier,J.B., Youhanna,S., Ghassibe-Sabbagh,M., Platt,D.E., Abchee,A.B., Romanos,J., Khazen,G., Othman,R., Badro,D.A., Haber,M., Salloum,A.K., Douaihy,B., Shasha,N., Kabbani,S., Sbeite,H., Chammas,E., el Bayeh,H., Rousseau,F., Zelenika,D., Gut,I., Lathrop,M., Farrall,M., Gauguier,D. and Zalloua,P.A.
Journal PLoS ONE 7 (6), E38663 (2012)
Title Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction .
Author O'Donnell,C.J., Kavousi,M., Smith,A.V., Kardia,S.L., Feitosa,M.F., Hwang,S.J., Sun,Y.V., Province,M.A., Aspelund,T., Dehghan,A., Hoffmann,U., Bielak,L.F., Zhang,Q., Eiriksdottir,G., van Duijn,C.M., Fox,C.S., de Andrade,M., Kraja,A.T., Sigurdsson,S., Elias-Smale,S.E., Murabito,J.M., Launer,L.J., van der Lugt,A., Kathiresan,S., Krestin,G.P., Herrington,D.M., Howard,T.D., Liu,Y., Post,W., Mitchell,B.D., O'Connell,J.R., Shen,H., Shuldiner,A.R., Altshuler,D., Elosua,R., Salomaa,V., Schwartz,S.M., Siscovick,D.S., Voight,B.F., Bis,J.C., Glazer,N.L., Psaty,B.M., Boerwinkle,E., Heiss,G., Blankenberg,S., Zeller,T., Wild,P.S., Schnabel,R.B., Schillert,A., Ziegler,A., Munzel,T.F., White,C.C., Rotter,J.I., Nalls,M., Oudkerk,M., Johnson,A.D., Newman,A.B., Uitterlinden,A.G., Massaro,J.M., Cunningham,J., Harris,T.B., Hofman,A., Peyser,P.A., Borecki,I.B., Cupples,L.A., Gudnason,V. and Witteman,J.C.
Journal Circulation 124 (25), 2855-2864 (2011)
Title Depletion of the novel protein PHACTR-1 from human endothelial cells abolishes tube formation and induces cell death receptor apoptosis .
Author Jarray,R., Allain,B., Borriello,L., Biard,D., Loukaci,A., Larghero,J., Hadj-Slimane,R., Garbay,C., Lepelletier,Y. and Raynaud,F.
Journal Biochimie 93 (10), 1668-1675 (2011)
Title A genome-wide association study in europeans and South asians identifies 5 new Loci for coronary artery disease .
Author Mehta,N.N.
Journal Circ Cardiovasc Genet 4 (4), 465-466 (2011)
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)

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