Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.
| RefSeq Version | NM_001904.3, 148228165 |
| Length | 3720 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. |
| Product | catenin beta-1 |
| Comment | Summary: The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene. Transcript Variant: This variant (1) represents the longest transcript. All three variants encode the same protein. |
| RefSeq | NP_001895.1 |
| CDS | 269..2614 | Exon (1) | 1..220 | Exon (2) | 1..220 | Exon (3) | 221..281 | Exon (4) | 282..509 | Exon (5) | 510..763 | Exon (6) | 764..1002 | Exon (7) | 1003..1204 | Exon (8) | 1205..1349 | Exon (9) | 1350..1453 | Exon (10) | 1454..1792 | Exon (11) | 1793..1951 | Exon (12) | 1952..2071 | Exon (13) | 2072..2222 | Exon (14) | 2223..2344 | Exon (15) | 2345..2405 | Exon (16) | 2406..3720 |
| Translation | MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTS
QVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT
NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL
VKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC
LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCA
AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM
AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV
QLLYSPIENIQRVAAGVLCELAQDKEAAEAIEAEGATAPLTELLHSRNEGVATYAAAVLF
RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRQDDPSYRSFH
SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD
L
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| Gene Symbol | CTNNB1 |
| Gene Synonym | CTNNB; DKFZp686D02253; FLJ25606; FLJ37923 |
| Chromosome | 3 |
| Locus Map | 3p21 |
| All Transcripts | NM_001904 , NM_001098209 , NM_001098210 |
| Title | Association of CTNNB1 (beta-catenin) alterations, body mass index, and physical activity with survival in patients with colorectal cancer . |
| Author | Morikawa,T., Kuchiba,A., Yamauchi,M., Meyerhardt,J.A., Shima,K., Nosho,K., Chan,A.T., Giovannucci,E., Fuchs,C.S. and Ogino,S. |
| Journal | JAMA 305 (16), 1685-1694 (2011) |
| Title | PIPKIgamma regulates beta-catenin transcriptional activity downstream of growth factor receptor signaling . |
| Author | Schramp,M., Thapa,N., Heck,J. and Anderson,R. |
| Journal | Cancer Res. 71 (4), 1282-1291 (2011) |
| Title | EZH2 promotes expansion of breast tumor initiating cells through activation of RAF1-beta-catenin signaling . |
| Author | Chang,C.J., Yang,J.Y., Xia,W., Chen,C.T., Xie,X., Chao,C.H., Woodward,W.A., Hsu,J.M., Hortobagyi,G.N. and Hung,M.C. |
| Journal | Cancer Cell 19 (1), 86-100 (2011) |
| Title | CyclinD1 protein expressed in pterygia is associated with beta-catenin protein localization . |
| Author | Tung,J.N., Chiang,C.C., Tsai,Y.Y., Chou,Y.Y., Yeh,K.T., Lee,H. and Cheng,Y.W. |
| Journal | Mol. Vis. 16, 2733-2738 (2010) |
| Title | Detection of beta-catenin, gastrokine-2 and embryonic stem cell expressed ras in gastric cancers . |
| Author | Zhang,F., Tang,J.M., Wang,L., Shen,J.Y., Zheng,L., Wu,P.P., Zhang,M. and Yan,Z.W. |
| Journal | Int J Clin Exp Pathol 3 (8), 782-791 (2010) |
| Title | Identification of plakoglobin domains required for association with N-cadherin and alpha-catenin . |
| Author | Sacco,P.A., McGranahan,T.M., Wheelock,M.J. and Johnson,K.R. |
| Journal | J. Biol. Chem. 270 (34), 20201-20206 (1995) |
| Title | Receptor protein tyrosine phosphatase PTPmu associates with cadherins and catenins in vivo . |
| Author | Brady-Kalnay,S.M., Rimm,D.L. and Tonks,N.K. |
| Journal | J. Cell Biol. 130 (4), 977-986 (1995) |
| Title | c-erbB-2 gene product directly associates with beta-catenin and plakoglobin . |
| Author | Kanai,Y., Ochiai,A., Shibata,T., Oyama,T., Ushijima,S., Akimoto,S. and Hirohashi,S. |
| Journal | Biochem. Biophys. Res. Commun. 208 (3), 1067-1072 (1995) |
| Title | Assignment of the human beta-catenin gene (CTNNB1) to 3p22-->p21.3 by fluorescence in situ hybridization . |
| Author | van Hengel,J., Nollet,F., Berx,G., van Roy,N., Speleman,F. and van Roy,F. |
| Journal | Cytogenet. Cell Genet. 70 (1-2), 68-70 (1995) |
| Title | Assembly of the cadherin-catenin complex in vitro with recombinant proteins . |
| Author | Aberle,H., Butz,S., Stappert,J., Weissig,H., Kemler,R. and Hoschuetzky,H. |
| Journal | J. Cell. Sci. 107 (PT 12), 3655-3663 (1994) |
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