Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 1, mRNA.
| RefSeq Version | NM_153026.2, 222136677 |
| Length | 4321 bp |
| Structure | linear |
| Update Date | 03-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 1, mRNA. |
| Product | prickle-like protein 1 |
| Comment | Summary: This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq]. Transcript Variant: This variant (1) represents the longest transcript. Variants 1-4 encode the same protein. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. |
| RefSeq | NP_694571.2 |
| CDS | 355..2850 | Exon (1) | 1..306 | Exon (2) | 1..306 | Exon (3) | 307..486 | Exon (4) | 487..600 | Exon (5) | 601..738 | Exon (6) | 739..942 | Exon (7) | 943..1129 | Exon (8) | 1130..1993 | Exon (9) | 1994..4321 |
| Translation | MPLEMEPKMSKLAFGCQRSSTSDDDSGCALEEYAWVPPGLRPEQIQLYFACLPEEKVPYV
NSPGEKHRIKQLLYQLPPHDNEVRYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRA
VMHAVCEQCGLKINGGEVAVFASRAGPGVCWHPSCFVCFTCNELLVDLIYFYQDGKIHCG
RHHAELLKPRCSACDEIIFADECTEAEGRHWHMKHFCCLECETVLGGQRYIMKDGRPFCC
GCFESLYAEYCETCGEHIGVDHAQMTYDGQHWHATEACFSCAQCKASLLGCPFLPKQGQI
YCSKTCSLGEDVHASDSSDSAFQSARSRDSRRSVRMGKSSRSADQCRQSLLLSPALNYKF
PGLSGNADDTLSRKLDDLSLSRQGTSFASEEFWKGRVEQETPEDPEEWADHEDYMTQLLL
KFGDKSLFQPQPNEMDIRASEHWISDNMVKSKTELKQNNQSLASKKYQSDMYWAQSQDGL
GDSAYGSHPGPASSRRLQELELDHGASGYNHDETQWYEDSLECLSDLKPEQSVRDSMDSL
ALSNITGASVDGENKPRPSLYSLQNFEEMETEDCEKMSNMGTLNSSMLHRSAESLKSLSS
ELCPEKILPEEKPVHLPVLRRSKSQSRPQQVKFSDDVIDNGNYDIEIRQPPMSERTRRRV
YNFEERGSRSHHHRRRRSRKSRSDNALNLVTERKYSPKDRLRLYTPDNYEKFIQNKSARE
IQAYIQNADLYGQYAHATSDYGLQNPGMNRFLGLYGEDDDSWCSSSSSSSDSEEEGYFLG
QPIPQPRPQRFAYYTDDLSSPPSALPTPQFGQRTTKSKKKKGHKGKNCIIS
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| Position | Chain | Variation | Link |
| complement(174) | - | t, c | dbSNP:117521428 |
| complement(610) | - | g, a | dbSNP:112753281 |
| 665 | + | a, g | dbSNP:113994140 |
| complement(724) | - | t, c | dbSNP:79087668 |
| complement(728) | - | g, a | dbSNP:34837068 |
| complement(745) | - | c, a | dbSNP:35731866 |
| complement(907) | - | c, a | dbSNP:61924369 |
| complement(939) | - | g, a | dbSNP:74081707 |
| complement(1080) | - | c, a | dbSNP:74918611 |
| complement(1098) | - | t, c | dbSNP:34778200 |
| complement(1361) | - | c, a | dbSNP:76029235 |
| complement(1815) | - | g, a | dbSNP:116197349 |
| complement(2251) | - | , aa | dbSNP:111643910 |
| complement(2253) | - | g, a | dbSNP:3747563 |
| complement(2256..2257) | - | , gg | dbSNP:112291115 |
| complement(2256) | - | g, a | dbSNP:3747562 |
| complement(2590) | - | g, a | dbSNP:3827522 |
| complement(2658) | - | g, c | dbSNP:35854729 |
| complement(2941) | - | g, a | dbSNP:1043652 |
| complement(3078) | - | g, a | dbSNP:115866733 |
| 3111 | + | c, t | dbSNP:1043656 |
| complement(3248) | - | c, a | dbSNP:17091220 |
| 3377 | + | g, t | dbSNP:12658 |
| complement(3392..3393) | - | , tt | dbSNP:76259006 |
| complement(3392) | - | , t | dbSNP:68074167 |
| complement(3402) | - | t, g | dbSNP:74821236 |
| complement(3402) | - | , t | dbSNP:71758547 |
| complement(3833) | - | t, g | dbSNP:73126459 |
| complement(3897) | - | g, a | dbSNP:11181513 |
| complement(4133) | - | c, a | dbSNP:1669933 |
| complement(4244) | - | t, c | dbSNP:1051453 |
| 4300 | + | a, c | dbSNP:3168685 |
| Gene Symbol | PRICKLE1 |
| Gene Synonym | EPM1B; FLJ31627; FLJ31937; MGC138902; MGC138903; RILP |
| Chromosome | 12 |
| Locus Map | 12q12 |
| All Transcripts | NM_153026 , NM_001144881 , NM_001144882 , NM_001144883 |
| Title | Mutations in prickle orthologs cause seizures in flies, mice, and humans . |
| Author | Tao,H., Manak,J.R., Sowers,L., Mei,X., Kiyonari,H., Abe,T., Dahdaleh,N.S., Yang,T., Wu,S., Chen,S., Fox,M.H., Gurnett,C., Montine,T., Bird,T., Shaffer,L.G., Rosenfeld,J.A., McConnell,J., Madan-Khetarpal,S., Berry-Kravis,E., Griesbach,H., Saneto,R.P., Scott,M.P., Antic,D., Reed,J., Boland,R., Ehaideb,S.N., El-Shanti,H., Mahajan,V.B., Ferguson,P.J., Axelrod,J.D., Lehesjoki,A.E., Fritzsch,B., Slusarski,D.C., Wemmie,J., Ueno,N. and Bassuk,A.G. |
| Journal | Am. J. Hum. Genet. 88 (2), 138-149 (2011) |
| Title | PRICKLE1 progressive myoclonus epilepsy in Southern Italy . |
| Author | Criscuolo,C., de Leva,M.F., Sorrentino,P., Piro,R., Carbone,R., Guacci,A., De Michele,G. and Filla,A. |
| Journal | Mov. Disord. 25 (15), 2686-2687 (2010) |
| Title | Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium . |
| Author | Smith,N.L., Felix,J.F., Morrison,A.C., Demissie,S., Glazer,N.L., Loehr,L.R., Cupples,L.A., Dehghan,A., Lumley,T., Rosamond,W.D., Lieb,W., Rivadeneira,F., Bis,J.C., Folsom,A.R., Benjamin,E., Aulchenko,Y.S., Haritunians,T., Couper,D., Murabito,J., Wang,Y.A., Stricker,B.H., Gottdiener,J.S., Chang,P.P., Wang,T.J., Rice,K.M., Hofman,A., Heckbert,S.R., Fox,E.R., O'Donnell,C.J., Uitterlinden,A.G., Rotter,J.I., Willerson,J.T., Levy,D., van Duijn,C.M., Psaty,B.M., Witteman,J.C., Boerwinkle,E. and Vasan,R.S. |
| Journal | Circ Cardiovasc Genet 3 (3), 256-266 (2010) |
| Title | Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging . |
| Author | Wheeler,H.E., Metter,E.J., Tanaka,T., Absher,D., Higgins,J., Zahn,J.M., Wilhelmy,J., Davis,R.W., Singleton,A., Myers,R.M., Ferrucci,L. and Kim,S.K. |
| Journal | PLoS Genet. 5 (10), E1000685 (2009) |
| Title | Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting . |
| Author | Shimojo,M. |
| Journal | J. Biol. Chem. 283 (50), 34880-34886 (2008) |
| Title | Prickle-1 negatively regulates Wnt/beta-catenin pathway by promoting Dishevelled ubiquitination/degradation in liver cancer . |
| Author | Chan,D.W., Chan,C.Y., Yam,J.W., Ching,Y.P. and Ng,I.O. |
| Journal | Gastroenterology 131 (4), 1218-1227 (2006) |
| Title | Regulation of human tyrosine hydroxylase gene by neuron-restrictive silencer factor . |
| Author | Kim,S.M., Yang,J.W., Park,M.J., Lee,J.K., Kim,S.U., Lee,Y.S. and Lee,M.A. |
| Journal | Biochem. Biophys. Res. Commun. 346 (2), 426-435 (2006) |
| Title | Characterization of the REST/NRSF-interacting LIM domain protein (RILP): localization and interaction with REST/NRSF . |
| Author | Shimojo,M. and Hersh,L.B. |
| Journal | J. Neurochem. 96 (4), 1130-1138 (2006) |
| Title | REST/NRSF-interacting LIM domain protein, a putative nuclear translocation receptor . |
| Author | Shimojo,M. and Hersh,L.B. |
| Journal | Mol. Cell. Biol. 23 (24), 9025-9031 (2003) |
| Title | Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle . |
| Author | Katoh,M. and Katoh,M. |
| Journal | Int. J. Mol. Med. 11 (2), 249-256 (2003) |
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