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Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 1, mRNA.


Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu02070 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand $159.00 7-9
OHu02070C Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 1, mRNA. Customized vector On-demand $209.00 7-9

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Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_005710.2, 74027245
Length 798 bp
Structure linear
Update Date 03-MAY-2014
Organism Homo sapiens (human)
Definition Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 1, mRNA.
Product polyglutamine-binding protein 1 isoform 1
Comment

Summary: This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked mental retardation. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009].


Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1, 2, 3, 4, and 5 all encode the same protein (isoform 1).

RefSeq NP_005701.1
CDS 255..1052
Misc Feature(1)234..236
Misc Feature(2)393..488
Misc Feature(3)393..488
Misc Feature(4)534..536
Misc Feature(5)564..668
Misc Feature(6)669..686
Misc Feature(7)702..743
Misc Feature(8)993..995
Exon (1)1..321
Gene:PQBP1
Gene Synonym:MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (2)322..433
Gene:PQBP1
Gene Synonym:MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (3)434..546
Gene:PQBP1
Gene Synonym:MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (4)547..831
Gene:PQBP1
Gene Synonym:MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (5)832..895
Gene:PQBP1
Gene Synonym:MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (6)896..1111
Gene:PQBP1
Gene Synonym:MRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Translation MPLPVALQTRLAKRGILKHLEPEPEEEIIAEDYDDDPVDYEATRLEGLPPSWYKVFDPSC GLPYYWNADTDLVSWLSPHDPNSVVTKSAKKLRSSNADAEEKLDRSHDKSDRGHDKSDRS HEKLDRGHDKSDRGHDKSDRDRERGYDKVDRERERDRERDRDRGYDKADREEGKERRHHR REELAPYPKSKKAVSRKDEELDPMDPSSYSDAPRGTWSTGLPKRNEAKTGADTTAAGPLF QQRPYPSPGAVLRANAEASRTKQQD
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Position Chain Variation Link
44+dbSNP:
44+g, tdbSNP:191730656
complement(168)-t, cdbSNP:150603792
297+a, gdbSNP:202071384
329+dbSNP:
329+a, gdbSNP:376387863
356+c, tdbSNP:143156492
427+c, tdbSNP:374931093
448+dbSNP:
448+a, gdbSNP:121917899
503+c, tdbSNP:148270310
506+a, gdbSNP:376525221
complement(518)-t, cdbSNP:398124212
521+c, tdbSNP:139730174
630+dbSNP:
630+a, cdbSNP:28372358
633+a, gdbSNP:376223973
647+a, tdbSNP:28489209
651+a, cdbSNP:201489630
685+c, tdbSNP:35837994
685+c, tdbSNP:386584134
729+c, tdbSNP:200715521
746+g, tdbSNP:375706327
complement(750..751)-, cdbSNP:35961155
839+dbSNP:
839+c, tdbSNP:149688357
944+dbSNP:
944+c, tdbSNP:367752180
1049+c, tdbSNP:199778115
1058+c, tdbSNP:181088115
1060+a, gdbSNP:376272913
Gene SymbolPQBP1
Gene SynonymMRX2; MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
ChromosomeX
Locus MapXp11.23
Title A restricted level of PQBP1 is needed for the best longevity of Drosophila .
Author Tamura T, Sone M, Nakamura Y, Shimamura T, Imoto S, Miyano S and Okazawa H.
Journal Neurobiol. Aging 34 (1), 356 (2013)
Title The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules .
Author Kunde SA, Musante L, Grimme A, Fischer U, Muller E, Wanker EE and Kalscheuer VM.
Journal Hum. Mol. Genet. 20 (24), 4916-4931 (2011)
Title Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1 .
Author Jensen LR, Chen W, Moser B, Lipkowitz B, Schroeder C, Musante L, Tzschach A, Kalscheuer VM, Meloni I, Raynaud M, van Esch H, Chelly J, de Brouwer AP, Hackett A, van der Haar S, Henn W, Gecz J, Riess O, Bonin M, Reinhardt R, Ropers HH and Kuss AW.
Journal Eur. J. Hum. Genet. 19 (6), 717-720 (2011)
Title A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation .
Author Rejeb I, Ben Jemaa L, Abaied L, Kraoua L, Saillour Y, Maazoul F, Chelly J and Chaabouni H.
Journal Eur J Med Genet 54 (3), 241-246 (2011)
Title A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation .
Author Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA and Stratton MR.
Journal Nat. Genet. 41 (5), 535-543 (2009)
Title Genomic organization and alternative transcripts of the human PQBP-1 gene .
Author Iwamoto K, Huang Y and Ueda S.
Journal Gene 259 (1-2), 69-73 (2000)
Title Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription .
Author Komuro A, Saeki M and Kato S.
Journal Nucleic Acids Res. 27 (9), 1957-1965 (1999)
Title Renpenning syndrome maps to Xp11 .
Author Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M and Schwartz CE.
Journal Am. J. Hum. Genet. 62 (5), 1092-1101 (1998)
Title A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11 .
Author Deqaqi SC, N'Guessan M, Forner J, Sbiti A, Beldjord C, Chelly J, Sefiani A and Des Portes V.
Journal Ann. Genet. 41 (1), 11-16 (1998)
Title X-linked mental retardation: Renpenning revisited .
Author Fox,P., Fox,D. and Gerrard,J.W.
Journal Am. J. Med. Genet. 7 (4), 491-495 (1980)

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