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adenomatous polyposis coli protein (protein APC, APC, DP25)

Function: - tumor suppressor - promotes rapid degradation of CTNNB1 - participates in Wnt signaling - APC activity is correlated with its phosphorylation state - interacts with DIAPH1 & DIAPH2 - interacts with PDZ domains of DLG1 & DLG3 - associates with catenins, affects downregulation of beta-catenin - binds axin - interacts with the N-terminus of ARHGEF4, & the C-terminus of MAPRE1, MAPRE2 & MAPRE3 - found in a complex consisting of ARHGEF4, APC & CTNNB1 - interacts with APC2 - phosphorylated by GSK3B Structure: - forms homooligomers - belongs to the adenomatous polyposis coli (APC) family - contains 7 ARM repeats Alternative splicing: named isoforms=2 Expression: expressed in a variety of tissues Pathology: - defects in APC are a cause of a) familial adenomatous polyposis, including Gardner syndrome (autosomal recessive) b) hereditary desmoid disease (autosomal dominant) c) medulloblastoma d) Turcot syndrome

Interactions

molecular events

Related

adenomatous polyposis coli protein 2 (adenomatous polyposis coli protein-like, APC2, APCL) familial adenomatous polyposis [FAP] gene

General

anti-oncoprotein (tumor suppressor protein) phosphoprotein

Properties

SIZE: entity length = 2843 aa MW = 312 kD MOTIF: coiled coil {1-61} coiled coil {127-248} ARM repeat {453-495} ARM repeat {505-547} ARM repeat {548-591} ARM repeat {592-638} ARM repeat {639-683} ARM repeat {684-725} ARM repeat {726-767} serine-rich region {731-2832} MOTIF: serine residue (SEVERAL) Ser phosphorylation site {S1038} acidic region {1131-1156} MOTIF: acidic residue (SEVERAL) Ser phosphorylation site {S1180} Ser phosphorylation site {S1371} acidic region {1558-1577} MOTIF: acidic residue (SEVERAL) Thr phosphorylation site {T1697} Ser phosphorylation site {S1861} Ser phosphorylation site {S1863} Ser phosphorylation site {S1864} Highly charged {1866-1893} Ser phosphorylation site {S2283} Ser phosphorylation site {S2398} Ser phosphorylation site {S2674} Ser phosphorylation site {S2710} PDZ recognition motif NAME: PDZ recognition motif SITE: 2841-2843 FOR-BINDING-VIA: PDZ domain

References

  1. UniProt :accession P25054
  2. Kawasaki et al. Science 289:1194-7, 2000
  3. Entrez Gene :accession 324
  4. APC; information about APC mutations http://p53.curie.fr/p53%20site%20version%202.0/APCdatabase.html#Anchor-47857
  5. Atlas of genetics & cytogenetics in oncology & Haematology http://atlasgeneticsoncology.org/genes/APC118.html
  6. Genedis; Familial adenomatous polyposis (FAP) website http://life2.tau.ac.il/genedis/Tables/APC/apc.html
  7. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=APC
  8. SHMPD; The Singapore human mutation and polymorphism database http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APC
  9. Wikipedia; APC entry http://en.wikipedia.org/wiki/APC_%28gene%29

Component-of

molecular complex

Databases & Figures

OMIM correlations UniProt P25054 PFAM correlations Entrez Gene 324 Kegg hsa:324 Wnt1 signalling pathway