Sequence in raw or FASTA format:
Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA.
| RefSeq Version | NM_000209.3, 189095257 |
| Length | 2573 bp |
| Structure | linear |
| Update Date | 12-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA. |
| Product | pancreas/duodenum homeobox protein 1 |
| Comment | Summary: The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq]. 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_000200.1 |
| CDS | 109..960 | Exon (1) | 1..514 | Exon (2) | 1..514 | Exon (3) | 515..2573 |
| Translation | MNGEEQYYAATQLYKDPCAFQRGPAPEFSASPPACLYMGRQPPPPPPHPFPGALGALEQG
SPPDISPYEVPPLADDPAVAHLHHHLPAQLALPHPPAGPFPEGAEPGVLEEPNRVQLPFP
WMKSTKAHAWKGQWAGGAYAAEPEENKRTRTAYTRAQLLELEKEFLFNKYISRPRRVELA
VMLNLTERHIKIWFQNRRMKWKKEEDKKRGGGTAVGGGGVAEPEQDCAVTSGEELLALPP
PPPPGGAVPPAAPVAAREGRLPPGLSASPQPSSVAPRRPQEPR
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| Position | Chain | Variation | Link |
| 270 | + | a, g | dbSNP:28509441 |
| 296 | + | , c | dbSNP:80356660 |
| 600 | + | g, t | dbSNP:80356661 |
| 640 | + | a, g | dbSNP:80356662 |
| 651 | + | c, t | dbSNP:75498935 |
| 1048 | + | c, t | dbSNP:17847223 |
| 1177 | + | , a | dbSNP:55957037 |
| 1245 | + | g, t | dbSNP:76984376 |
| 1602..1603 | + | , tct | dbSNP:113506161 |
| 1703 | + | a, t | dbSNP:71433245 |
| 1741 | + | c, t | dbSNP:11617235 |
| 1796 | + | g, t | dbSNP:11617238 |
| 1811 | + | c, t | dbSNP:11617239 |
| 1812..1814 | + | , tcc | dbSNP:71993976 |
| 1817 | + | c, t | dbSNP:11620272 |
| 1823 | + | c, t | dbSNP:74799049 |
| 1823 | + | , ctc | dbSNP:60008665 |
| 1831 | + | c, t | dbSNP:78382412 |
| 1833 | + | c, t | dbSNP:11620280 |
| 1841 | + | c, t | dbSNP:12560601 |
| 1863 | + | a, t | dbSNP:9554205 |
| 1975 | + | c, t | dbSNP:112637982 |
| 1982 | + | a, t | dbSNP:112525679 |
| 1993 | + | a, t | dbSNP:74905790 |
| 2000 | + | c, t | dbSNP:75697516 |
| 2084 | + | a, g | dbSNP:7981781 |
| 2180 | + | c, t | dbSNP:112431822 |
| 2198 | + | a, g | dbSNP:113931775 |
| 2236 | + | c, t | dbSNP:117697989 |
| 2302 | + | g, t | dbSNP:9319402 |
| 2315 | + | c, g | dbSNP:113776422 |
| 2417 | + | a, g | dbSNP:112640306 |
| 2469 | + | g, t | dbSNP:75445448 |
| 2560 | + | c, t | dbSNP:112632160 |
| Gene Symbol | PDX1 |
| Gene Synonym | GSF; IDX-1; IPF1; IUF1; MODY4; PDX-1; STF-1 |
| Chromosome | 13 |
| Locus Map | 13q12.1 |
| All Transcripts | NM_000209 |
| Title | Aberrant expression of TFF1, TFF2, and PDX1 and their diagnostic value in lobular endocervical glandular hyperplasia . |
| Author | Ota,H., Harada,O., Uehara,T., Hayama,M. and Ishii,K. |
| Journal | Am. J. Clin. Pathol. 135 (2), 253-261 (2011) |
| Title | NKX6.1 promotes PDX-1-induced liver to pancreatic beta-cells reprogramming . |
| Author | Gefen-Halevi,S., Rachmut,I.H., Molakandov,K., Berneman,D., Mor,E., Meivar-Levy,I. and Ferber,S. |
| Journal | Cell Reprogram 12 (6), 655-664 (2010) |
| Title | Pcif1 modulates Pdx1 protein stability and pancreatic beta cell function and survival in mice . |
| Author | Claiborn,K.C., Sachdeva,M.M., Cannon,C.E., Groff,D.N., Singer,J.D. and Stoffers,D.A. |
| Journal | J. Clin. Invest. 120 (10), 3713-3721 (2010) |
| Title | Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program . |
| Author | Jablonski,K.A., McAteer,J.B., de Bakker,P.I., Franks,P.W., Pollin,T.I., Hanson,R.L., Saxena,R., Fowler,S., Shuldiner,A.R., Knowler,W.C., Altshuler,D. and Florez,J.C. |
| Journal | Diabetes 59 (10), 2672-2681 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Involvement of the homeodomain-containing transcription factor PDX-1 in islet amyloid polypeptide gene transcription . |
| Author | Watada,H., Kajimoto,Y., Kaneto,H., Matsuoka,T., Fujitani,Y., Miyazaki,J. and Yamasaki,Y. |
| Journal | Biochem. Biophys. Res. Commun. 229 (3), 746-751 (1996) |
| Title | Transcriptional activation of the GLUT2 gene by the IPF-1/STF-1/IDX-1 homeobox factor . |
| Author | Waeber,G., Thompson,N., Nicod,P. and Bonny,C. |
| Journal | Mol. Endocrinol. 10 (11), 1327-1334 (1996) |
| Title | Isolation, characterization, and chromosomal mapping of the human insulin promoter factor 1 (IPF-1) gene . |
| Author | Inoue,H., Riggs,A.C., Tanizawa,Y., Ueda,K., Kuwano,A., Liu,L., Donis-Keller,H. and Permutt,M.A. |
| Journal | Diabetes 45 (6), 789-794 (1996) |
| Title | Localization of human homeodomain transcription factor insulin promoter factor 1 (IPF1) to chromosome band 13q12.1 . |
| Author | Stoffel,M., Stein,R., Wright,C.V., Espinosa,R. III, Le Beau,M.M. and Bell,G.I. |
| Journal | Genomics 28 (1), 125-126 (1995) |
| Title | Characterization of somatostatin transactivating factor-1, a novel homeobox factor that stimulates somatostatin expression in pancreatic islet cells . |
| Author | Leonard,J., Peers,B., Johnson,T., Ferreri,K., Lee,S. and Montminy,M.R. |
| Journal | Mol. Endocrinol. 7 (10), 1275-1283 (1993) |
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