Home Search Reports Help

Gene Model: Ctnnb1

NomenclatureGenomic Location
SymbolCtnnb1Chromosome1
Namecatenin (cadherin associated protein),
beta 1		Linkage mapunknown
SpeciesDracomimus familiarisGenome CoordinatesChr1: 47 Mbp

Molecular Function

Key dowstream component of the canonical Wnt signaling pathway. In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes. Involved in the regulation of cell adhesion. The majority of beta-catenin is localized to the cell membrane and is part of E-cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton.

Molecular Function Terms:

binding
   chromatin binding
   nucleic acid binding
      DNA binding
   protein binding
      alpha-catenin binding
      cell adhesion molecule binding
      enzyme binding
         kinase binding
         phosphatase binding
      ion channel binding
      protein complex binding
      receptor binding
         hormone receptor binding
      transcription factor binding

nucleic acid binding transcription factor activity
   sequence-specific DNA binding transcription factor activity

protein binding transcription factor activity
   transcription factor binding transcription factor activity
      transcription cofactor activity

structural molecule activity

Human Disease Association

Defects in CTNNB1 are associated with colorectal cancer (CRC) [MIM:114500].

Note=Activating mutations in CTNNB1 have oncogenic activity resulting in tumor development. Somatic mutations are found in various tumor types, including colon cancers, ovarian and prostate carcinomas, hepatoblastoma (HB), hepatocellular carcinoma (HCC). HBs are malignant embryonal tumors mainly affecting young children in the first three years of life.

Defects in CTNNB1 are a cause of pilomatrixoma (PTR) [MIM:132600]; a common benign skin tumor.

Defects in CTNNB1 are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.

Defects in CTNNB1 are a cause of susceptibility to ovarian cancer (OC) [MIM:167000]. Ovarian cancer common malignancy originating from ovarian tissue. Although many histologic types of ovarian neoplasms have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease.

Note=A chromosomal aberration involving CTNNB1 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(3;8)(p21;q12) with PLAG1.

Predicted Transcript
     1 ATGGCAACCCAAGCTGACTTGATGGAGCTGGACATGGCAATGGAGCCAGATAGGAAAGCA
    61 GCTGTCAGCCACTGGCAGCAACAGTCCTACCTAGATTCTGGTATTCACTCTGGTGCCACA
   121 ACAACAGCCCCATCTCTGAGTGGCAAAGGAAATCCTGAAGAGGAAGATGTCGATACTACC
   181 CAAGTTCTGTATGAGTGGGACCAGGGGTTCTCTCAGTCCTTCACCCAGGAACAAGTTGCT
   241 GATATTGATGGGCAATATGCCATGACTCGAGCACAGAGAGTGCGTGCTGCCATGTTTCCA
   301 GAAACATTGGATGAAGGCATGCAAATTCCATCAACACAGTTTGATGCGGCTCATCCAACC
   361 AACGTGCAGCGCCTTGCCGAACCTTCCCAGATGTTAAAACATGCTGTGGTTAATTTGATA
   421 AATTACCAGGATGATGCAGAACTTGCAACCCGTGCTATCCCAGAACTGACCAAATTGTTG
   481 AATGACGAGGACCAGGTGGTGGTGAACAAAGCTGCAGTCATGGTGCATCAGTTGTCCAAA
   541 AAAGAAGCTTCCCGTCATGCTATCATGCGTTCCCCTCAAATGGTATCTGCCATTGTGCGT
   601 ACTATGCAGAATACAAATGATGTGGAAACAGCCCGTTGTACCGCAGGTACACTTCACAAC
   661 CTTTCTCATCATCGTGAAGGCTTGTTGGCAATCTTCAAATCAGGAGGCATTCCTGCTCTA
   721 GTTAAAATGCTTGGTTCCCCAGTGGATTCTGTATTGTTCTATGCCATCACTACTCTACAC
   781 AACCTTCTGTTGCACCAAGAAGGTGCCAAAATGGCTGTACGTCTAGCTGGAGGTCTACAG
   841 AAAATGGTTGCCTTGCTCAACAAGACAAATGTCAAATTTTTGGCCATTACAACAGACTGC
   901 CTTCAGATCCTTGCTTATGGTAATCAAGAGAGTAAGCTTATAATTTTGGCAAGTGGTGGA
   961 CCCCAGGCTCTGGTAAACATAATGAGGACTTATACCTATGAGAAATTACTCTGGACCACA
  1021 AGCAGAGTGCTGAAGGTGCTGTCAGTTTGCTCTAGTAACAAACCTGCAATTGTTGAGGCT
  1081 GGTGGAATGCAGGCCTTGGGACTCCACCTTACAGATCCAAGCCAGCGACTGGTTCAGAAT
  1141 TGTCTCTGGACTCTTAGAAATCTCTCAGATGCTGCAACTAAGCAGGAAGGGATGGAAGGC
  1201 CTTCTTGGCACCCTTGTTCAGCTTTTGGGCTCAGATGATATCAATGTGGTGACCTGTGCT
  1261 GCTGGCATCCTTTCCAATCTTACTTGCAACAACTACAAGAATAAAATGATGGTGTGCCAA
  1321 GTGGGTGGCATTGAGGCTCTTGTGCGCACAGTTCTCCGAGCTGGCGACAGGGAAGACATC
  1381 ACTGAACCTGCTATCTGTGCGCTCCGTCACCTCACAAGTAGGCATCAAGAAGCAGAGATG
  1441 GCGCAAAATGCAGTGCGTCTTCATTATGGACTTCCAGTGGTGGTCAAACTCTTGCATCCA
  1501 CCATCTCACTGGCCTCTTATCAAGGCGACTGTTGGTCTTATCCGCAATCTTGCACTCTGT
  1561 CCAGCAAATCATGCTCCGCTCCGTGAGCAAGGTGCTATTCCAAGACTAGTGCAGCTGCTT
  1621 GTGAGAGCCCATCAGGACACCCAGCGTCGTACTTCAATGGGGGGCACACAGCAGCAATTT
  1681 GTGGAGGGTGTGCGTATGGAGGAAATAGTTGAGGGTTGCACTGGAGCCCTTCATATCCTG
  1741 GCTAGAGATGTTCACAATAGAATTGTCATCAGAGGTCTTAACACCATTCCACTGTTTGTG
  1801 CAGCTGCTATATTCTCCTATTGAGAACATCCAGAGAGTGGCTGCAGGCGTATTGTGTGAA
  1861 TTGGCTCAGGACAAAGAAGCAGCCGAAGCAATTGAAGCAGAAGGAGCAACAGCACCACTG
  1921 ACAGAACTGCTTCACTCTAGGAACGAGGGTGTGGCAACATACGCAGCTGCAGTGTTGTTT
  1981 AGGATGTCTGAGGATAAACCACAGGATTATAAGAAACGGCTTTCAGTTGAGTTGACCAGC
  2041 TCTCTCTTCAGGACTGAACCAATGGCTTGGAATGAGACTGCTGATCTGGGACTTGACATC
  2101 GGTGCACAGGGAGAACCTCTTGGCTATCGCCCGGATGATCCTAGCTACCGTTCTTTCCAC
  2161 TCTGGAGGATACGGTCAGGATGCCTTGGGCATGGACCCAATGATGGAACATGAAATGGGG
  2221 GGCCACCACCCGGGTGCTGACTACCCAGTTGATGGGCTGCCAGATCTAGGACATGCCCAG
  2281 GACCTTATGGATGGGCTGCCTCCAGGTGACAGTAATCAGTTGGCCTGGTTCGATACTGAC
  2341 CTGTAA

Predicted Protein Product
MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTT
QVLYEWDQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT
NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL
VKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC
LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCA
AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM
AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV
QLLYSPIENIQRVAAGVLCELAQDKEAAEAIEAEGATAPLTELLHSRNEGVATYAAAVLF
RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRPDDPSYRSFH
SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD
L
Protein Alignment to Mouse
sp|Q02248|CTNB1_MOUSE Catenin beta-1 OS=Mus musculus GN=Ctnnb1 PE=1 SV=1
      MGI:88276 Ctnnb1 catenin (cadherin associated protein), beta 1 (Chr 9)
        Length = 781

 Score = 3931 (1388.8 bits), Expect = 0., P = 0.
 Identities = 764/781 (97%), Positives = 766/781 (98%)

Query:     1 MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTT 60
             MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDT+
Sbjct:     1 MATQADLMELDMAMEPDRKAAVSHWQQQSYLDSGIHSGATTTAPSLSGKGNPEEEDVDTS 60

Query:    61 QVLYEWDQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT 120
             QVLYEW+QGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT
Sbjct:    61 QVLYEWEQGFSQSFTQEQVADIDGQYAMTRAQRVRAAMFPETLDEGMQIPSTQFDAAHPT 120

Query:   121 NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK 180
             NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK
Sbjct:   121 NVQRLAEPSQMLKHAVVNLINYQDDAELATRAIPELTKLLNDEDQVVVNKAAVMVHQLSK 180

Query:   181 KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL 240
             KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL
Sbjct:   181 KEASRHAIMRSPQMVSAIVRTMQNTNDVETARCTAGTLHNLSHHREGLLAIFKSGGIPAL 240

Query:   241 VKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC 300
             VKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC
Sbjct:   241 VKMLGSPVDSVLFYAITTLHNLLLHQEGAKMAVRLAGGLQKMVALLNKTNVKFLAITTDC 300

Query:   301 LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA 360
             LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA
Sbjct:   301 LQILAYGNQESKLIILASGGPQALVNIMRTYTYEKLLWTTSRVLKVLSVCSSNKPAIVEA 360

Query:   361 GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCA 420
             GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCA
Sbjct:   361 GGMQALGLHLTDPSQRLVQNCLWTLRNLSDAATKQEGMEGLLGTLVQLLGSDDINVVTCA 420

Query:   421 AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM 480
             AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM
Sbjct:   421 AGILSNLTCNNYKNKMMVCQVGGIEALVRTVLRAGDREDITEPAICALRHLTSRHQEAEM 480

Query:   481 AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL 540
             AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL
Sbjct:   481 AQNAVRLHYGLPVVVKLLHPPSHWPLIKATVGLIRNLALCPANHAPLREQGAIPRLVQLL 540

Query:   541 VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV 600
             VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV
Sbjct:   541 VRAHQDTQRRTSMGGTQQQFVEGVRMEEIVEGCTGALHILARDVHNRIVIRGLNTIPLFV 600

Query:   601 QLLYSPIENIQRVAAGVLCELAQDKXXXXXXXXXXXXXPLTELLHSRNEGVATYAAAVLF 660
             QLLYSPIENIQRVAAGVLCELAQDK             PLTELLHSRNEGVATYAAAVLF
Sbjct:   601 QLLYSPIENIQRVAAGVLCELAQDKEAAEAIEAEGATAPLTELLHSRNEGVATYAAAVLF 660

Query:   661 RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEPLGYRPDDPSYRSFH 720
             RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGE LGYR DDPSYRSFH
Sbjct:   661 RMSEDKPQDYKKRLSVELTSSLFRTEPMAWNETADLGLDIGAQGEALGYRQDDPSYRSFH 720

Query:   721 SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD 780
             SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD
Sbjct:   721 SGGYGQDALGMDPMMEHEMGGHHPGADYPVDGLPDLGHAQDLMDGLPPGDSNQLAWFDTD 780

Query:   781 L 781
             L
Sbjct:   781 L 781