Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.
| RefSeq Version | NM_002653.4, 152963643 |
| Length | 2383 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| 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]. |
| RefSeq | NP_002644.4 |
| CDS | 394..1338 | Exon (1) | 1..562 | Exon (2) | 1..562 | Exon (3) | 563..795 | Exon (4) | 796..2383 |
| Translation | MDAFKGGMSLERLPEGLRPPPPPPHDMGPAFHLARPADPREPLENSASESSDTELPEKER
GGEPKGPEDSGAGGTGCGGADDPAKKKKQRRQRTHFTSQQLQELEATFQRNRYPDMSMRE
EIAVWTNLTEPRVRVWFKNRRAKWRKRERNQQLDLCKGGYVPQFSGLVQPYEDVYAAGYS
YNNWAAKSLAPAPLSTKSFTFFNSMSPLSSQSMFSAPSSISSMTMPSSMGPGAVPGMPNS
GLNNINNLTGSSLNSAMSPGACPYGTPASPYSVYRDTCNSSLASLRLKSKQHSSFGYGGL
QGPASGLNACQYNS
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| Position | Chain | Variation | Link |
| complement(105) | - | , cggctc | dbSNP:11268002 |
| complement(173) | - | c, a | dbSNP:113986847 |
| complement(383) | - | c, a | dbSNP:112693031 |
| complement(780) | - | g, a | dbSNP:112172425 |
| 781 | + | a, g | dbSNP:121909109 |
| 811 | + | a, c | dbSNP:1131611 |
| complement(892) | - | g, a | dbSNP:591552 |
| complement(1272) | - | t, c | dbSNP:61751190 |
| 1289 | + | c, g | dbSNP:479632 |
| complement(1381..1386) | - | , gcgccc | dbSNP:71690865 |
| complement(1386..1391) | - | , cgcccg | dbSNP:71653049 |
| complement(1392..1397) | - | , cgcccg | dbSNP:36227765 |
| 1392 | + | c, t | dbSNP:1131614 |
| complement(1400) | - | , ccgcgc | dbSNP:71660434 |
| complement(1411..2233) | - | , largedeletion | dbSNP:71805279 |
| 1543..1544 | + | , a | dbSNP:70976562 |
| complement(1544..1546) | - | , ttt | dbSNP:72083806 |
| complement(1550..1551) | - | , t | dbSNP:71793281 |
| complement(1554) | - | , t | dbSNP:71773796 |
| complement(1568) | - | t, c | dbSNP:111319441 |
| complement(1634) | - | g, c | dbSNP:114273543 |
| complement(1637) | - | t, c | dbSNP:13436473 |
| complement(1638..1639) | - | , ac | dbSNP:71647248 |
| 1639..1640 | + | , gt | dbSNP:70976561 |
| complement(1646..1647) | - | , ac | dbSNP:72078637 |
| complement(1647..1648) | - | , ca | dbSNP:72336177 |
| complement(1648..1649) | - | , ac | dbSNP:71782934 |
| complement(1649..1650) | - | , ac | dbSNP:111997779 |
| complement(1701) | - | t, c | dbSNP:115710080 |
| complement(1705) | - | t, c | dbSNP:39599 |
| complement(1775) | - | g, a | dbSNP:9327699 |
| complement(2002) | - | t, c | dbSNP:115751741 |
| complement(2089) | - | t, c | dbSNP:112938656 |
| 2129 | + | c, t | dbSNP:1051294 |
| complement(2192) | - | g, a | dbSNP:116353259 |
| complement(2206) | - | g, a | dbSNP:117580210 |
| 2265 | + | c, t | dbSNP:1051297 |
| Gene Symbol | PITX1 |
| Gene Synonym | BFT; CCF; POTX; PTX1 |
| Chromosome | 5 |
| Locus Map | 5q31 |
| All Transcripts | NM_002653 |
| Title | The c-Abl tyrosine kinase stabilizes Pitx1 in the apoptotic response to DNA damage . |
| Author | Yamaguchi,T., Miki,Y. and Yoshida,K. |
| Journal | Apoptosis 15 (8), 927-935 (2010) |
| Title | Genetic polymorphism of PITX1 in susceptibility to knee osteoarthritis in a Chinese Han population: a case-control study . |
| Author | Fan,J., Shi,D., Dai,J., Zhu,L., Qin,J., Shao,Z., Qiu,X., Xu,Z., Chen,D. and Jiang,Q. |
| Journal | Rheumatol. Int. (2010) In press |
| Title | Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia . |
| Author | Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J., Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S., Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C. |
| Journal | PLoS ONE 5 (7), E11493 (2010) |
| Title | SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1 . |
| Author | Jeyabalan,J., Nesbit,M.A., Galvanovskis,J., Callaghan,R., Rorsman,P. and Thakker,R.V. |
| Journal | PLoS ONE 5 (5), E10646 (2010) |
| Title | The role of the homeobox genes BFT and CDX2 in the pathogenesis of non-small cell lung cancer . |
| Author | Grimminger,P., Ling,F.C., Neiss,S., Vallbohmer,D., Lurje,G., Schneider,P.M., Holscher,A.H., Metzger,R. and Brabender,J. |
| Journal | Anticancer Res. 29 (4), 1281-1286 (2009) |
| 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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