Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.
| RefSeq Version | NM_022089.2, 213972617 |
| Length | 3996 bp |
| Structure | linear |
| Update Date | 17-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA. |
| Product | probable cation-transporting ATPase 13A2 isoform 1 |
| Comment | Summary: This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 1. |
| RefSeq | NP_071372.1 |
| CDS | 191..3733 | Exon (1) | 1..200 | Exon (2) | 201..295 | Exon (3) | 296..478 | Exon (4) | 479..537 | Exon (5) | 538..667 | Exon (6) | 668..747 | Exon (7) | 748..825 | Exon (8) | 826..895 | Exon (9) | 896..1030 | Exon (10) | 1031..1097 | Exon (11) | 1098..1229 | Exon (12) | 1230..1385 | Exon (13) | 1386..1496 | Exon (14) | 1497..1543 | Exon (15) | 1544..1732 | Exon (16) | 1733..1939 | Exon (17) | 1940..2035 | Exon (18) | 2036..2195 | Exon (19) | 2196..2316 | Exon (20) | 2317..2441 | Exon (21) | 2442..2602 | Exon (22) | 2603..2719 | Exon (23) | 2720..2799 | Exon (24) | 2800..2952 | Exon (25) | 2953..3049 | Exon (26) | 3050..3273 | Exon (27) | 3274..3425 | Exon (28) | 3426..3595 | Exon (29) | 3596..3996 |
| Translation | MSADSSPLVGSTPTGYGTLTIGTSIDPLSSSVSSVRLSGYCGSPWRVIGYHVVVWMMAGI
PLLLFRWKPLWGVRLRLRPCNLAHAETLVIEIRDKEDSSWQLFTVQVQTEAIGEGSLEPS
PQSQAEDGRSQAAVGAVPEGAWKDTAQLHKSEEAVSVGQKRVLRYYLFQGQRYIWIETQQ
AFYQVSLLDHGRSCDDVHRSRHGLSLQDQMVRKAIYGPNVISIPVKSYPQLLVDEALNPY
YGFQAFSIALWLADHYYWYALCIFLISSISICLSLYKTRKQSQTLRDMVKLSMRVCVCRP
GGEEEWVDSSELVPGDCLVLPQEGGLMPCDAALVAGECMVNESSLTGESIPVLKTALPEG
LGPYCAETHRRHTLFCGTLILQARAYVGPHVLAVVTRTGFCTAKGGLVSSILHPRPINFK
FYKHSMKFVAALSVLALLGTIYSIFILYRNRVPLNEIVIRALDLVTVVVPPALPAAMTVC
TLYAQSRLRRQGIFCIHPLRINLGGKLQLVCFDKTGTLTEDGLDVMGVVPLKGQAFLPLV
PEPRRLPVGPLLRALATCHALSRLQDTPVGDPMDLKMVESTGWVLEEEPAADSAFGTQVL
AVMRPPLWEPQLQAMEEPPVPVSVLHRFPFSSALQRMSVVVAWPGATQPEAYVKGSPELV
AGLCNPETVPTDFAQMLQSYTAAGYRVVALASKPLPTVPSLEAAQQLTRDTVEGDLSLLG
LLVMRNLLKPQTTPVIQALRRTRIRAVMVTGDNLQTAVTVARGCGMVAPQEHLIIVHATH
PERGQPASLEFLPMESPTAVNGVKDPDQAASYTVEPDPRSRHLALSGPTFGIIVKHFPKL
LPKVLVQGTVFARMAPEQKTELVCELQKLQYCVGMCGDGANDCGALKAADVGISLSQAEA
SVVSPFTSSMASIECVPMVIREGRCSLDTSFSVFKYMALYSLTQFISVLILYTINTNLGD
LQFLAIDLVITTTVAVLMSRTGPALVLGRVRPPGALLSVPVLSSLLLQMVLVTGVQLGGY
FLTLAQPWFVPLNRTVAAPDNLPNYENTVVFSLSSFQYLILAAAVSKGAPFRRPLYTNVP
FLVALALLSSVLVGLVLVPGLLQGPLALRNITDTGFKLLLLGLVTLNFVGAFMLESVLDQ
CLPACLRRLRPKRASKKRFKQLERELAEQPWPPLPAGPLR
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| Position | Chain | Variation | Link |
| 109 | + | c, t | dbSNP:56173726 |
| complement(226) | - | t, c | dbSNP:61741838 |
| 335 | + | a, g | dbSNP:56379718 |
| 643 | + | c, t | dbSNP:55979991 |
| complement(662) | - | t, c | dbSNP:113643181 |
| 1071 | + | a, g | dbSNP:56367069 |
| complement(1155) | - | t, c | dbSNP:17855550 |
| 1195 | + | c, t | dbSNP:56290406 |
| complement(1215) | - | t, c | dbSNP:112007434 |
| 1270 | + | c, g | dbSNP:55943100 |
| 1356 | + | c, t | dbSNP:56275621 |
| complement(1361) | - | t, c | dbSNP:113105667 |
| complement(1461) | - | t, g | dbSNP:71644021 |
| complement(1555) | - | g, a | dbSNP:17852748 |
| 1700 | + | c, g | dbSNP:121918227 |
| 1804 | + | c, t | dbSNP:56351817 |
| complement(1807) | - | c, a | dbSNP:61739752 |
| complement(1894) | - | g, a | dbSNP:75557309 |
| 1923 | + | g, t | dbSNP:56186751 |
| complement(1959) | - | t, g | dbSNP:12564040 |
| 2005 | + | c, g, t | dbSNP:2076603 |
| complement(2283) | - | g, a | dbSNP:61734958 |
| complement(2345) | - | g, a | dbSNP:17852747 |
| complement(2350) | - | c, a | dbSNP:61999317 |
| 2474 | + | c, t | dbSNP:55635527 |
| complement(2499) | - | t, g | dbSNP:77630788 |
| 2516 | + | a, g | dbSNP:56170027 |
| complement(2582) | - | t, g | dbSNP:114022303 |
| 2746 | + | c, t | dbSNP:55889979 |
| complement(2827) | - | g, a | dbSNP:9435662 |
| complement(2914) | - | t, c | dbSNP:79724242 |
| 2980 | + | a, g | dbSNP:3738815 |
| complement(2985) | - | t, c | dbSNP:12129596 |
| 3026 | + | a, t | dbSNP:55708915 |
| 3160 | + | a, g | dbSNP:761421 |
| 3334 | + | c, g | dbSNP:56126202 |
| 3366 | + | g, t | dbSNP:137853967 |
| complement(3382) | - | g, a | dbSNP:9435659 |
| 3443 | + | , c | dbSNP:137853968 |
| complement(3512) | - | t, g | dbSNP:34585239 |
| complement(3517) | - | t, c | dbSNP:112261486 |
| complement(3532) | - | g, a | dbSNP:115985012 |
| 3706 | + | a, g | dbSNP:3170740 |
| 3746 | + | a, g | dbSNP:56004722 |
| 3775 | + | c, t | dbSNP:1064042 |
| complement(3810) | - | t, g | dbSNP:77235949 |
| complement(3853) | - | t, a | dbSNP:41273151 |
| complement(3857) | - | g, a | dbSNP:15786 |
| complement(3964) | - | t, c | dbSNP:76298930 |
| Gene Symbol | ATP13A2 |
| Gene Synonym | FLJ26510; HSA9947; KRPPD; PARK9; RP1-37C10.4 |
| Chromosome | 1 |
| Locus Map | 1p36 |
| All Transcripts | NM_022089 , NM_001141973 , NM_001141974 |
| Title | Mutational analysis of GIGYF2, ATP13A2 and GBA genes in Brazilian patients with early-onset Parkinson's disease . |
| Author | Dos Santos,A.V., Pestana,C.P., Diniz,K.R., Campos,M., Abdalla-Carvalho,C.B., de Rosso,A.L., Pereira,J.S., Nicaretta,D.H., de Carvalho,W.L., Dos Santos,J.M., Santos-Reboucas,C.B. and Pimentel,M.M. |
| Journal | Neurosci. Lett. 485 (2), 121-124 (2010) |
| Title | Eye movement disorders in ATP13A2 mutation carriers (PARK9) . |
| Author | Machner,B., Sprenger,A., Behrens,M.I., Ramirez,A., Bruggemann,N., Klein,C. and Helmchen,C. |
| Journal | Mov. Disord. 25 (15), 2687-2689 (2010) |
| Title | Recessively inherited parkinsonism: effect of ATP13A2 mutations on the clinical and neuroimaging phenotype . |
| Author | Bruggemann,N., Hagenah,J., Reetz,K., Schmidt,A., Kasten,M., Buchmann,I., Eckerle,S., Bahre,M., Munchau,A., Djarmati,A., van der Vegt,J., Siebner,H., Binkofski,F., Ramirez,A., Behrens,M.I. and Klein,C. |
| Journal | Arch. Neurol. 67 (11), 1357-1363 (2010) |
| Title | Rapid screening of ATP13A2 variant with high-resolution melting analysis . |
| Author | Funayama,M., Tomiyama,H., Wu,R.M., Ogaki,K., Yoshino,H., Mizuno,Y. and Hattori,N. |
| Journal | Mov. Disord. 25 (14), 2434-2437 (2010) |
| Title | Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations . |
| Author | Paisan-Ruiz,C., Guevara,R., Federoff,M., Hanagasi,H., Sina,F., Elahi,E., Schneider,S.A., Schwingenschuh,P., Bajaj,N., Emre,M., Singleton,A.B., Hardy,J., Bhatia,K.P., Brandner,S., Lees,A.J. and Houlden,H. |
| Journal | Mov. Disord. 25 (12), 1791-1800 (2010) |
| Title | PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotype . |
| Author | Ning,Y.P., Kanai,K., Tomiyama,H., Li,Y., Funayama,M., Yoshino,H., Sato,S., Asahina,M., Kuwabara,S., Takeda,A., Hattori,T., Mizuno,Y. and Hattori,N. |
| Journal | Neurology 70 (16 PT 2), 1491-1493 (2008) |
| Title | ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease . |
| Author | Di Fonzo,A., Chien,H.F., Socal,M., Giraudo,S., Tassorelli,C., Iliceto,G., Fabbrini,G., Marconi,R., Fincati,E., Abbruzzese,G., Marini,P., Squitieri,F., Horstink,M.W., Montagna,P., Libera,A.D., Stocchi,F., Goldwurm,S., Ferreira,J.J., Meco,G., Martignoni,E., Lopiano,L., Jardim,L.B., Oostra,B.A., Barbosa,E.R. and Bonifati,V. |
| Journal | Neurology 68 (19), 1557-1562 (2007) |
| Title | Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase . |
| Author | Ramirez,A., Heimbach,A., Grundemann,J., Stiller,B., Hampshire,D., Cid,L.P., Goebel,I., Mubaidin,A.F., Wriekat,A.L., Roeper,J., Al-Din,A., Hillmer,A.M., Karsak,M., Liss,B., Woods,C.G., Behrens,M.I. and Kubisch,C. |
| Journal | Nat. Genet. 38 (10), 1184-1191 (2006) |
| Title | Characterization of the P5 subfamily of P-type transport ATPases in mice . |
| Author | Schultheis,P.J., Hagen,T.T., O'Toole,K.K., Tachibana,A., Burke,C.R., McGill,D.L., Okunade,G.W. and Shull,G.E. |
| Journal | Biochem. Biophys. Res. Commun. 323 (3), 731-738 (2004) |
| Title | Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 . |
| Author | Hampshire,D.J., Roberts,E., Crow,Y., Bond,J., Mubaidin,A., Wriekat,A.L., Al-Din,A. and Woods,C.G. |
| Journal | J. Med. Genet. 38 (10), 680-682 (2001) |
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