Homo sapiens serine/threonine kinase 11 (STK11), mRNA.
| RefSeq Version | NM_000455.4, 58530881 |
| Length | 3286 bp |
| Structure | linear |
| Update Date | 27-MAR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens serine/threonine kinase 11 (STK11), mRNA. |
| Product | serine/threonine-protein kinase 11 |
| Comment | Summary: This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq]. |
| RefSeq | NP_000446.1 |
| CDS | 1116..2417 | Exon (1) | 1..1405 | Exon (2) | 1..1405 | Exon (3) | 1406..1489 | Exon (4) | 1490..1579 | Exon (5) | 1580..1712 | Exon (6) | 1713..1849 | Exon (7) | 1850..1977 | Exon (8) | 1978..2035 | Exon (9) | 2036..2223 | Exon (10) | 2224..2433 | Exon (11) | 2434..3276 |
| Translation | MEVVDPQQLGMFTEGELMSVGMDTFIHRIDSTEVIYQPRRKRAKLIGKYLMGDLLGEGSY
GKVKEVLDSETLCRRAVKILKKKKLRRIPNGEANVKKEIQLLRRLRHKNVIQLVDVLYNE
EKQKMYMVMEYCVCGMQEMLDSVPEKRFPVCQAHGYFCQLIDGLEYLHSQGIVHKDIKPG
NLLLTTGGTLKISDLGVAEALHPFAADDTCRTSQGSPAFQPPEIANGLDTFSGFKVDIWS
AGVTLYNITTGLYPFEGDNIYKLFENIGKGSYAIPGDCGPPLSDLLKGMLEYEPAKRFSI
RQIRQHSWFRKKHPPAEAPVPIPPSPDTKDRWRSMTVVPYLEDLHGADEDEDLFDIEDDI
IYTQDFTVPGQVPEEEASHNGQRRGLPKAVCMNGTEAAQLSTKSRAEGRAPNPARKACSA
SSKIRRLSACKQQ
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| Position | Chain | Variation | Link |
| 686 | + | c, t | dbSNP:115594813 |
| 1099 | + | , a | dbSNP:66915176 |
| 1209 | + | , a | dbSNP:66832117 |
| 1211 | + | c, g | dbSNP:79175212 |
| 1224 | + | c, t | dbSNP:121913324 |
| 1258 | + | , a | dbSNP:68117541 |
| 1284 | + | , g | dbSNP:121913319 |
| 1379 | + | a, c | dbSNP:56354945 |
| 1489 | + | c, t | dbSNP:11552325 |
| 1623 | + | c, t | dbSNP:121913323 |
| 1695 | + | a, g | dbSNP:121913315 |
| 1696 | + | a, t | dbSNP:121913316 |
| 1710 | + | a, g | dbSNP:121913318 |
| 1710 | + | g, t | dbSNP:121913317 |
| 1902..1905 | + | , ttgt | dbSNP:121913320 |
| 1931 | + | c, t | dbSNP:9282859 |
| 1952..1953 | + | , c | dbSNP:67873004 |
| 1957 | + | c, t | dbSNP:121913322 |
| 1957 | + | , c | dbSNP:121913321 |
| 2111 | + | a, g | dbSNP:121913325 |
| 2177 | + | c, g | dbSNP:59912467 |
| 2506 | + | a, g | dbSNP:114462626 |
| complement(2580) | - | g, c | dbSNP:11552326 |
| 2659 | + | a, c | dbSNP:113161978 |
| 3033 | + | c, t | dbSNP:10415095 |
| 3102 | + | a, c | dbSNP:111773256 |
| 3263 | + | , gaagcttgg | dbSNP:75046712 |
| Title | Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph . |
| Author | Casabonne,D., Reina,O., Benavente,Y., Becker,N., Maynadie,M., Foretova,L., Cocco,P., Gonzalez-Neira,A., Nieters,A., Boffetta,P., Middeldorp,J.M. and de Sanjose,S. |
| Journal | Haematologica 96 (2), 323-327 (2011) |
| Title | Negative regulation of TGFbeta signaling by the kinase LKB1 and the scaffolding protein LIP1 . |
| Author | Moren,A., Raja,E., Heldin,C.H. and Moustakas,A. |
| Journal | J. Biol. Chem. 286 (1), 341-353 (2011) |
| Title | Phospho-DeltaNp63alpha/Rpn13-dependent regulation of LKB1 degradation modulates autophagy in cancer cells . |
| Author | Huang,Y. and Ratovitski,E.A. |
| Journal | Aging (Albany NY) 2 (12), 959-968 (2010) |
| Title | LKB1 regulated pathways in lung cancer invasion and metastasis . |
| Author | Marcus,A.I. and Zhou,W. |
| Journal | J Thorac Oncol 5 (12), 1883-1886 (2010) |
| Title | High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients . |
| Author | Papp,J., Kovacs,M.E., Solyom,S., Kasler,M., Borresen-Dale,A.L. and Olah,E. |
| Journal | BMC Med. Genet. 11, 169 (2010) |
| Title | Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome . |
| Author | Nakagawa,H., Koyama,K., Miyoshi,Y., Ando,H., Baba,S., Watatani,M., Yasutomi,M., Matsuura,N., Monden,M. and Nakamura,Y. |
| Journal | Hum. Genet. 103 (2), 168-172 (1998) |
| Title | Low frequency of somatic mutations in the LKB1/Peutz-Jeghers syndrome gene in sporadic breast cancer . |
| Author | Bignell,G.R., Barfoot,R., Seal,S., Collins,N., Warren,W. and Stratton,M.R. |
| Journal | Cancer Res. 58 (7), 1384-1386 (1998) |
| Title | A serine/threonine kinase gene defective in Peutz-Jeghers syndrome . |
| Author | Hemminki,A., Markie,D., Tomlinson,I., Avizienyte,E., Roth,S., Loukola,A., Bignell,G., Warren,W., Aminoff,M., Hoglund,P., Jarvinen,H., Kristo,P., Pelin,K., Ridanpaa,M., Salovaara,R., Toro,T., Bodmer,W., Olschwang,S., Olsen,A.S., Stratton,M.R., de la Chapelle,A. and Aaltonen,L.A. |
| Journal | Nature 391 (6663), 184-187 (1998) |
| Title | Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase . |
| Author | Jenne,D.E., Reimann,H., Nezu,J., Friedel,W., Loff,S., Jeschke,R., Muller,O., Back,W. and Zimmer,M. |
| Journal | Nat. Genet. 18 (1), 38-43 (1998) |
| Title | Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis . |
| Author | Hemminki,A., Tomlinson,I., Markie,D., Jarvinen,H., Sistonen,P., Bjorkqvist,A.M., Knuutila,S., Salovaara,R., Bodmer,W., Shibata,D., de la Chapelle,A. and Aaltonen,L.A. |
| Journal | Nat. Genet. 15 (1), 87-90 (1997) |
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