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


RefSeq Accession Definition Services Price Order
NM_005710 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 1, mRNA. ORF Sequence $231.42
Peptide Services
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RefSeq Version NM_005710.2, 74027245
Length 1147 bp
Structure linear
Update Date 29-APR-2013
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)258..260
Misc Feature(3)258..260
Misc Feature(4)393..488
Misc Feature(5)534..536
Misc Feature(6)564..668
Misc Feature(7)669..686
Misc Feature(8)702..743
Misc Feature(9)993..995
Exon (1)1..321
Gene:PQBP1
Gene Synonym:MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (2)322..433
Gene:PQBP1
Gene Synonym:MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (3)434..546
Gene:PQBP1
Gene Synonym:MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (4)547..831
Gene:PQBP1
Gene Synonym:MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (5)832..895
Gene:PQBP1
Gene Synonym:MRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
Exon (6)896..1111
Gene:PQBP1
Gene Synonym: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
168+c, tdbSNP:150603792
297+a, gdbSNP:202071384
356+dbSNP:
356+c, tdbSNP:143156492
448+dbSNP:
448+a, gdbSNP:121917899
503+c, tdbSNP:148270310
521+c, tdbSNP:139730174
630+dbSNP:
630+a, cdbSNP:28372358
647+a, tdbSNP:28489209
651+a, cdbSNP:201489630
685+c, tdbSNP:35837994
729+c, tdbSNP:200715521
750..751+, cdbSNP:35961155
839+dbSNP:
839+c, tdbSNP:149688357
1049+dbSNP:
1049+c, tdbSNP:199778115
1058+c, tdbSNP:181088115
Gene SymbolPQBP1
Gene SynonymMRX55; MRXS3; MRXS8; NPW38; RENS1; SHS
ChromosomeX
Locus MapXp11.23
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001032381 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 2, mRNA. Full Length $294.06
ORF Sequence $231.42
NM_001032382 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 3, mRNA. Full Length $313.78
ORF Sequence $231.42
NM_001032383 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 4, mRNA. Full Length $316.97
ORF Sequence $231.42
NM_001032384 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 5, mRNA. Full Length $290.58
ORF Sequence $231.42
NM_001167989 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 8, mRNA. Full Length $288.26
ORF Sequence $230.55
NM_001167990 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 9, mRNA. Full Length $281.88
ORF Sequence $224.46
NM_001167992 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 10, mRNA. Full Length $177.19
ORF Sequence $159.00
NM_005710 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 1, mRNA. Full Length $332.63
ORF Sequence $231.42
NM_144495 Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 7, mRNA. Full Length $231.13
ORF Sequence $159.00
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,S.A., Musante,L., Grimme,A., Fischer,U., Muller,E., Wanker,E.E. and Kalscheuer,V.M.
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,L.R., Chen,W., Moser,B., Lipkowitz,B., Schroeder,C., Musante,L., Tzschach,A., Kalscheuer,V.M., Meloni,I., Raynaud,M., van Esch,H., Chelly,J., de Brouwer,A.P., Hackett,A., van der Haar,S., Henn,W., Gecz,J., Riess,O., Bonin,M., Reinhardt,R., Ropers,H.H. and Kuss,A.W.
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,P.S., 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,M.I., Martinez,F., Carvill,G., Goliath,R., de Brouwer,A.P., van Bokhoven,H., Van Esch,H., Chelly,J., Raynaud,M., Ropers,H.H., Abidi,F.E., Srivastava,A.K., Cox,J., Luo,Y., Mallya,U., Moon,J., Parnau,J., Mohammed,S., Tolmie,J.L., Shoubridge,C., Corbett,M., Gardner,A., Haan,E., Rujirabanjerd,S., Shaw,M., Vandeleur,L., Fullston,T., Easton,D.F., Boyle,J., Partington,M., Hackett,A., Field,M., Skinner,C., Stevenson,R.E., Bobrow,M., Turner,G., Schwartz,C.E., Gecz,J., Raymond,F.L., Futreal,P.A. and Stratton,M.R.
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,R.E., Arena,J.F., Ouzts,E., Gibson,A., Shokeir,M.H., Vnencak-Jones,C., Lubs,H.A., May,M. and Schwartz,C.E.
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,S.C., 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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