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Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_002653 Homo sapiens paired-like homeodomain 1 (PITX1), mRNA. GenEZ ORF Cloning On-demand $449.00 14

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RefSeq Version NM_002653.4, 152963643
Length 2383 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.
Product pituitary homeobox 1
Comment

Summary: This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008].

RefSeq NP_002644.4
CDS 394..1338
Misc Feature(1)175..177
Misc Feature(2)529..531
Misc Feature(3)529..531
Misc Feature(4)535..537
Misc Feature(5)661..837
Misc Feature(6)order(661..675,679..681,730..732,748..750,787..789,
Misc Feature(7)order(667..669,676..678,796..798,805..810,817..819)
Misc Feature(8)832..1230
Misc Feature(9)1216..1272
Misc Feature(10)1231..1272
Misc Feature(11)1249..1263
Exon (1)1..562
Gene:PITX1
Gene Synonym:BFT; CCF; LBNBG; POTX; PTX1
Exon (2)563..795
Gene:PITX1
Gene Synonym:BFT; CCF; LBNBG; POTX; PTX1
Exon (3)796..2383
Gene:PITX1
Gene Synonym:BFT; CCF; LBNBG; POTX; PTX1
Translation MDAFKGGMSLERLPEGLRPPPPPPHDMGPAFHLARPADPREPLENSASESSDTELPEKER GGEPKGPEDSGAGGTGCGGADDPAKKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSMRE EIAVWTNLTEPRVRVWFKNRRAKWRKRERNQQLDLCKGGYVPQFSGLVQPYEDVYAAGYS YNNWAAKSLAPAPLSTKSFTFFNSMSPLSSQSMFSAPSSISSMTMPSSMGPGAVPGMPNS GLNNINNLTGSSLNSAMSPGACPYGTPASPYSVYRDTCNSSLASLRLKSKQHSSFGYGGL QGPASGLNACQYNS
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Position Chain Variation Link
complement(123)-dbSNP:
complement(123)-, cggctcdbSNP:11268002
complement(173)-c, adbSNP:113986847
complement(383)-c, adbSNP:112693031
complement(549)-g, adbSNP:200290396
complement(608)-dbSNP:
complement(608)-g, adbSNP:139844695
complement(644)-t, gdbSNP:201133610
complement(655)-t, gdbSNP:200888898
complement(675)-c, adbSNP:147452369
complement(780)-g, adbSNP:112172425
complement(781)-g, adbSNP:121909109
complement(811)-dbSNP:
complement(811)-c, adbSNP:1131611
complement(892)-g, adbSNP:591552
complement(968)-g, adbSNP:201656428
complement(993)-g, adbSNP:144193864
complement(1006)-t, gdbSNP:149498254
complement(1013)-g, adbSNP:147021244
complement(1026)-t, cdbSNP:202189745
complement(1030)-t, cdbSNP:138042194
complement(1044)-g, cdbSNP:146204449
complement(1186)-g, cdbSNP:141612135
complement(1251)-t, cdbSNP:138617400
complement(1272)-t, cdbSNP:61751190
complement(1289)-g, cdbSNP:479632
complement(1318)-t, cdbSNP:140746945
complement(1392..1397)-, cgcccgdbSNP:36227765
complement(1392)-t, cdbSNP:1131614
complement(1393..1398)-, gcgcccdbSNP:71690865
complement(1395..1400)-, ccgcgcdbSNP:145747214
complement(1400)-, ccgcgcdbSNP:71660434
complement(1565..1567)-, tttdbSNP:72083806
complement(1566..1567)-, adbSNP:70976562
complement(1567)-, tdbSNP:71773796
complement(1568)-t, cdbSNP:111319441
complement(1634)-g, cdbSNP:191998224
complement(1636)-c, adbSNP:148703077
complement(1637)-t, cdbSNP:13436473
complement(1639..1640)-, gtdbSNP:70976561
complement(1647..1648)-, cadbSNP:72336177
complement(1648..1649)-, acdbSNP:71647248
complement(1649..1650)-, acdbSNP:111997779
complement(1701)-t, cdbSNP:115710080
complement(1705)-t, cdbSNP:39599
complement(1775)-g, adbSNP:9327699
complement(1888)-c, adbSNP:187575103
complement(2002)-t, cdbSNP:115751741
complement(2089)-t, cdbSNP:112938656
complement(2129)-t, cdbSNP:1051294
complement(2192)-g, adbSNP:116353259
complement(2265)-t, cdbSNP:1051297
Gene SymbolPITX1
Gene SynonymBFT; CCF; LBNBG; POTX; PTX1
Chromosome5
Locus Map5q31.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_002653 Homo sapiens paired-like homeodomain 1 (PITX1), mRNA. On-demand $449.00 14
Title Loss of desmocollin 1-3 and homeobox genes PITX1 and CDX2 are associated with tumor progression and survival in colorectal carcinoma .
Author Knosel,T., Chen,Y., Hotovy,S., Settmacher,U., Altendorf-Hofmann,A. and Petersen,I.
Journal Int J Colorectal Dis 27 (11), 1391-1399 (2012)
Title Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus .
Author Spielmann,M., Brancati,F., Krawitz,P.M., Robinson,P.N., Ibrahim,D.M., Franke,M., Hecht,J., Lohan,S., Dathe,K., Nardone,A.M., Ferrari,P., Landi,A., Wittler,L., Timmermann,B., Chan,D., Mennen,U., Klopocki,E. and Mundlos,S.
Journal Am. J. Hum. Genet. 91 (4), 629-635 (2012)
Title A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed .
Author Pajewski,N.M., Shrestha,S., Quinn,C.P., Parker,S.D., Wiener,H., Aissani,B., McKinney,B.A., Poland,G.A., Edberg,J.C., Kimberly,R.P., Tang,J. and Kaslow,R.A.
Journal Vaccine 30 (32), 4778-4784 (2012)
Title Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly .
Author Klopocki,E., Kahler,C., Foulds,N., Shah,H., Joseph,B., Vogel,H., Luttgen,S., Bald,R., Besoke,R., Held,K., Mundlos,S. and Kurth,I.
Journal Eur. J. Hum. Genet. 20 (6), 705-708 (2012)
Title The estrogen-regulated transcription factor PITX1 coordinates gene-specific regulation by estrogen receptor-alpha in breast cancer cells .
Author Stender,J.D., Stossi,F., Funk,C.C., Charn,T.H., Barnett,D.H. and Katzenellenbogen,B.S.
Journal Mol. Endocrinol. 25 (10), 1699-1709 (2011)
Title NeuroD1/beta2 contributes to cell-specific transcription of the proopiomelanocortin gene .
Author Poulin,G., Turgeon,B. and Drouin,J.
Journal Mol. Cell. Biol. 17 (11), 6673-6682 (1997)
Title Backfoot is a novel homeobox gene expressed in the mesenchyme of developing hind limb .
Author Shang,J., Luo,Y. and Clayton,D.A.
Journal Dev. Dyn. 209 (2), 242-253 (1997)
Title Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft) .
Author Shang,J., Li,X., Ring,H.Z., Clayton,D.A. and Francke,U.
Journal Genomics 40 (1), 108-113 (1997)
Title Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome .
Author Crawford,M.J., Lanctot,C., Tremblay,J.J., Jenkins,N., Gilbert,D., Copeland,N., Beatty,B. and Drouin,J.
Journal Mamm. Genome 8 (11), 841-845 (1997)
Title P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development .
Author Szeto,D.P., Ryan,A.K., O'Connell,S.M. and Rosenfeld,M.G.
Journal Proc. Natl. Acad. Sci. U.S.A. 93 (15), 7706-7710 (1996)


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