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Database:

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Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_153026 Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 1, mRNA. ORF Sequence $723.84
Peptide Services
Antibody Services
Protein Services


RefSeq Version NM_153026.2, 222136677
Length 4321 bp
Structure linear
Update Date 17-APR-2013
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, Sep 2009].


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
Misc Feature(1)328..330
Misc Feature(2)418..708
Misc Feature(3)418..708
Misc Feature(4)730..906
Misc Feature(5)order(730..732,739..741,808..810,817..819,826..828,
Misc Feature(6)919..1086
Misc Feature(7)order(925..927,934..936,988..990,997..999,1006..1008,
Misc Feature(8)1099..1275
Misc Feature(9)order(1105..1107,1114..1116,1171..1173,1186..1188,
Exon (1)1..306
Gene:PRICKLE1
Gene Synonym:EPM1B; RILP
Exon (2)307..486
Gene:PRICKLE1
Gene Synonym:EPM1B; RILP
Exon (3)487..600
Gene:PRICKLE1
Gene Synonym:EPM1B; RILP
Exon (4)601..738
Gene:PRICKLE1
Gene Synonym:EPM1B; RILP
Exon (5)739..942
Gene:PRICKLE1
Gene Synonym:EPM1B; RILP
Exon (6)943..1129
Gene:PRICKLE1
Gene Synonym:EPM1B; RILP
Exon (7)1130..1993
Gene:PRICKLE1
Gene Synonym:EPM1B; RILP
Exon (8)1994..4321
Gene:PRICKLE1
Gene Synonym:EPM1B; RILP
Translation MPLEMEPKMSKLAFGCQRSSTSDDDSGCALEEYAWVPPGLRPEQIQLYFACLPEEKVPYV NSPGEKHRIKQLLYQLPPHDNEVRYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRA VMHAVCEQCGLKINGGEVAVFASRAGPGVCWHPSCFVCFTCNELLVDLIYFYQDGKIHCG RHHAELLKPRCSACDEIIFADECTEAEGRHWHMKHFCCLECETVLGGQRYIMKDGRPFCC GCFESLYAEYCETCGEHIGVDHAQMTYDGQHWHATEACFSCAQCKASLLGCPFLPKQGQI YCSKTCSLGEDVHASDSSDSAFQSARSRDSRRSVRMGKSSRSADQCRQSLLLSPALNYKF PGLSGNADDTLSRKLDDLSLSRQGTSFASEEFWKGRVEQETPEDPEEWADHEDYMTQLLL KFGDKSLFQPQPNEMDIRASEHWISDNMVKSKTELKQNNQSLASKKYQSDMYWAQSQDGL GDSAYGSHPGPASSRRLQELELDHGASGYNHDETQWYEDSLECLSDLKPEQSVRDSMDSL ALSNITGASVDGENKPRPSLYSLQNFEEMETEDCEKMSNMGTLNSSMLHRSAESLKSLSS ELCPEKILPEEKPVHLPVLRRSKSQSRPQQVKFSDDVIDNGNYDIEIRQPPMSERTRRRV YNFEERGSRSHHHRRRRSRKSRSDNALNLVTERKYSPKDRLRLYTPDNYEKFIQNKSARE IQAYIQNADLYGQYAHATSDYGLQNPGMNRFLGLYGEDDDSWCSSSSSSSDSEEEGYFLG QPIPQPRPQRFAYYTDDLSSPPSALPTPQFGQRTTKSKKKKGHKGKNCIIS
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Position Chain Variation Link
complement(165)-dbSNP:
complement(165)-g, cdbSNP:145508056
complement(174)-t, cdbSNP:117521428
complement(341)-t, cdbSNP:200066556
complement(353)-g, adbSNP:186219547
complement(455)-g, adbSNP:139176541
complement(462)-g, adbSNP:147268650
complement(467)-g, adbSNP:145493619
complement(468)-t, cdbSNP:141743294
complement(510)-dbSNP:
complement(510)-t, cdbSNP:138673850
complement(531)-g, adbSNP:144843013
complement(538)-t, cdbSNP:140262447
complement(560)-g, adbSNP:141795695
complement(610)-dbSNP:
complement(610)-g, adbSNP:112753281
665+a, gdbSNP:113994140
complement(674)-t, gdbSNP:201983132
complement(678)-t, gdbSNP:143645243
complement(724)-t, cdbSNP:79087668
complement(728)-g, adbSNP:34837068
complement(745)-dbSNP:
complement(745)-c, adbSNP:35731866
complement(754)-t, gdbSNP:200558941
785+a, gdbSNP:281865563
complement(789)-t, cdbSNP:146650383
complement(825)-g, adbSNP:201613485
complement(907)-c, adbSNP:61924369
complement(912)-c, adbSNP:199650711
complement(939)-g, adbSNP:74081707
complement(1012)-dbSNP:
complement(1012)-t, cdbSNP:200263143
complement(1023)-t, cdbSNP:201394996
complement(1079..1080)-, cdbSNP:148197048
complement(1080)-c, adbSNP:74918611
complement(1098)-t, cdbSNP:34778200
complement(1264)-dbSNP:
complement(1264)-t, cdbSNP:202205425
complement(1269)-t, cdbSNP:150052192
complement(1308)-g, c, adbSNP:139421676
complement(1361)-c, adbSNP:76029235
complement(1404)-g, adbSNP:141763288
complement(1601)-g, adbSNP:151332996
complement(1602)-t, cdbSNP:142502371
complement(1638)-g, adbSNP:183742526
complement(1653)-t, adbSNP:139134945
complement(1684)-t, gdbSNP:146199468
complement(1745)-t, cdbSNP:138568653
1768+c, tdbSNP:281865564
complement(1815)-g, adbSNP:116197349
complement(1860)-t, cdbSNP:200460878
complement(1865)-t, cdbSNP:201054946
complement(1901)-g, cdbSNP:139901494
complement(1921)-g, adbSNP:150121787
complement(1961)-g, adbSNP:150766064
complement(1962)-t, cdbSNP:144062651
complement(2001)-dbSNP:
complement(2001)-t, cdbSNP:149518219
complement(2066)-g, adbSNP:192905881
complement(2101)-g, adbSNP:138079613
complement(2223)-t, g, cdbSNP:150809651
complement(2242)-g, cdbSNP:200171609
complement(2253)-g, adbSNP:3747563
complement(2254)-, aadbSNP:111643910
complement(2256..2257)-, ggdbSNP:112291115
complement(2256)-g, adbSNP:3747562
complement(2273)-t, cdbSNP:139937830
complement(2332)-t, cdbSNP:143947284
complement(2399)-t, cdbSNP:189093086
complement(2418)-g, adbSNP:199893979
complement(2425)-t, cdbSNP:149496604
complement(2547)-g, adbSNP:137985321
complement(2548)-t, cdbSNP:150287042
complement(2570)-g, adbSNP:138452760
complement(2590)-g, adbSNP:3827522
complement(2619)-g, adbSNP:148989635
complement(2623)-t, cdbSNP:145860632
complement(2637)-g, adbSNP:149852787
complement(2658)-g, cdbSNP:35854729
complement(2665)-c, adbSNP:146670726
complement(2670)-t, cdbSNP:143240342
complement(2717)-g, adbSNP:200984524
complement(2734)-g, adbSNP:201705679
complement(2754)-t, adbSNP:139855191
complement(2758)-g, adbSNP:150545495
complement(2779)-g, cdbSNP:142613488
complement(2793)-t, cdbSNP:138524511
complement(2885)-t, cdbSNP:200644857
complement(2896)-t, cdbSNP:147122337
complement(2941)-g, adbSNP:1043652
complement(2953)-, adbSNP:151151770
complement(3059)-t, cdbSNP:192612214
complement(3111)-t, cdbSNP:1043656
complement(3248)-c, adbSNP:17091220
complement(3280)-g, cdbSNP:141738298
complement(3333)-t, gdbSNP:187632148
complement(3377)-t, gdbSNP:12658
complement(3401..3402)-, ttdbSNP:76259006
complement(3402)-, tdbSNP:68074167
complement(3565)-c, adbSNP:147942021
complement(3833)-t, gdbSNP:73126459
complement(3885)-, adbSNP:201368761
complement(3897)-g, adbSNP:11181513
complement(3921)-t, cdbSNP:182902189
complement(4020)-g, adbSNP:192161217
complement(4133)-c, adbSNP:1669933
complement(4244)-t, cdbSNP:1051453
complement(4300)-c, adbSNP:3168685
Gene SymbolPRICKLE1
Gene SynonymEPM1B; RILP
Chromosome12
Locus Map12q12
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001144881 Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA. Full Length $1488.90
ORF Sequence $723.84
NM_001144882 Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 3, mRNA. Full Length $1488.55
ORF Sequence $723.84
NM_001144883 Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 4, mRNA. Full Length $1487.50
ORF Sequence $723.84
NM_153026 Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 1, mRNA. Full Length $1512.35
ORF Sequence $723.84
Title Mink1 regulates beta-catenin-independent Wnt signaling via Prickle phosphorylation .
Author Daulat,A.M., Luu,O., Sing,A., Zhang,L., Wrana,J.L., McNeill,H., Winklbauer,R. and Angers,S.
Journal Mol. Cell. Biol. 32 (1), 173-185 (2012)
Title Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women .
Author Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V., Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C., Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F., Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M., Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A. and Borecki,I.B.
Journal PLoS Genet. 8 (5), E1002695 (2012)
Title Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects .
Author Bosoi,C.M., Capra,V., Allache,R., Trinh,V.Q., De Marco,P., Merello,E., Drapeau,P., Bassuk,A.G. and Kibar,Z.
Journal Hum. Mutat. 32 (12), 1371-1375 (2011)
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 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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