Apc, wnt signaling pathway regulator

APC, WNT signaling pathway regulator is a protein that in humans is encoded by the APC gene.

APC
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1DEB, 1EMU, 1JPP, 1M5I, 1T08, 1TH1, 1V18, 2RQU, 3AU3, 3NMW, 3NMX, 3NMZ, 3QHE, 3RL7, 3RL8, 3T7U, 4G69, 4YJL, 4YK6, 4YJE
Identifiers
Aliases	APC, BTPS2, DP2, DP2.5, DP3, GS, PPP1R46, adenomatous polyposis coli, WNT signaling pathway regulator, Genes
External IDs	OMIM: 611731; MGI: 88039; HomoloGene: 30950; GeneCards: APC; OMA:APC - orthologs
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18 B1|18 18.53 cM Start 34,220,924 bp End 34,322,552 bp
RNA expression pattern Bgee Human Mouse (ortholog) n/a Top expressed in olfactory bulb substantia nigra lateral geniculate nucleus pontine nuclei medial dorsal nucleus subiculum medial geniculate nucleus anterior horn of spinal cord genital tubercle tail of embryo BioGPS More reference expression data
Gene ontology Molecular function gamma-catenin binding protein kinase binding microtubule plus-end binding microtubule binding cadherin binding protein kinase regulator activity protein binding beta-catenin binding ubiquitin protein ligase binding identical protein binding dynein complex binding Cellular component cytoskeleton adherens junction beta-catenin destruction complex nucleoplasm cytoplasm cell projection cytosol catenin complex cell junction nucleus lamellipodium membrane Wnt signalosome centrosome kinetochore bicellular tight junction ruffle membrane plasma membrane lateral plasma membrane perinuclear region of cytoplasm microtubule cytoplasmic microtubule Biological process negative regulation of cell population proliferation negative regulation of cyclin-dependent protein serine/threonine kinase activity mitotic spindle assembly checkpoint signaling positive regulation of cell migration positive regulation of protein catabolic process bicellular tight junction assembly regulation of microtubule-based process positive regulation of pseudopodium assembly regulation of attachment of spindle microtubules to kinetochore cellular response to DNA damage stimulus negative regulation of Wnt signaling pathway cell adhesion mitotic cytokinesis negative regulation of microtubule depolymerization positive regulation of apoptotic process canonical Wnt signaling pathway cell migration beta-catenin destruction complex assembly beta-catenin destruction complex disassembly negative regulation of canonical Wnt signaling pathway Wnt signaling pathway protein deubiquitination insulin receptor signaling pathway positive regulation of cell death protein homooligomerization positive regulation of protein localization to centrosome protein-containing complex assembly cell fate specification pattern specification process regulation of cell differentiation positive regulation of cold-induced thermogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 324 11789 Ensembl ENSG00000134982 ENSMUSG00000005871 UniProt P25054 Q61315 RefSeq (mRNA) NM_001127511 NM_000038 NM_001127510 NM_007462 NM_001360979 NM_001360980 RefSeq (protein) NP_000029 NP_001120982 NP_001120983 NP_001341824 NP_001341825 NP_001341826 NP_001341827 NP_001341828 NP_001341829 NP_001341830 NP_001341831 NP_001341832 NP_001341833 NP_001341834 NP_001341835 n/a Location (UCSC) n/a Chr 18: 34.22 – 34.32 Mb PubMed search
Wikidata
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Function

This gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in other processes including cell migration and adhesion, transcriptional activation, and apoptosis. Defects in this gene cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy. Disease-associated mutations tend to be clustered in a small region designated the mutation cluster region (MCR) and result in a truncated protein product. [provided by RefSeq, Jul 2008].

Further reading

• Stern HS, Viertelhausen S, Hunter AG, O'Rourke K, Cappelli M, Perras H, Serfas K, Blumenthall A, Dewar D, Baumann E, Lagarde AE (February 2001). "APC I1307K increases risk of transition from polyp to colorectal carcinoma in Ashkenazi Jews". Gastroenterology. 120 (2): 392–400. doi:10.1053/gast.2001.21170. PMID 11159880.
• Slattery ML, Samowitz W, Ballard L, Schaffer D, Leppert M, Potter JD (February 2001). "A molecular variant of the APC gene at codon 1822: its association with diet, lifestyle, and risk of colon cancer". Cancer Res. 61 (3): 1000–4. PMID 11221825.
• Bertario L, Russo A, Sala P, Eboli M, Giarola M, D'amico F, Gismondi V, Varesco L, Pierotti MA, Radice P (March 2001). "Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis". Int. J. Cancer. 95 (2): 102–7. doi:10.1002/1097-0215(20010320)95:2<102::aid-ijc1018>3.0.co;2-8. PMID 11241320. S2CID 2201237.
• Silverberg MS, Clelland C, Murphy JE, Steinhart AH, McLeod RS, Greenberg GR, Cohen Z, Siminovitch KA (March 2001). "Carrier rate of APC I1307K is not increased in inflammatory bowel disease patients of Ashkenazi Jewish origin". Hum. Genet. 108 (3): 205–10. doi:10.1007/s004390100474. PMID 11354631. S2CID 12831161.
• Bahar AY, Taylor PJ, Andrews L, Proos A, Burnett L, Tucker K, Friedlander M, Buckley MF (July 2001). "The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data". Cancer. 92 (2): 440–5. doi:10.1002/1097-0142(20010715)92:2<440::aid-cncr1340>3.0.co;2-o. PMID 11466700.
• Michie S, Bobrow M, Marteau TM (August 2001). "Predictive genetic testing in children and adults: a study of emotional impact". J. Med. Genet. 38 (8): 519–26. doi:10.1136/jmg.38.8.519. PMC 1734924. PMID 11483640.
• Houlston RS, Tomlinson IP (August 2001). "Polymorphisms and colorectal tumor risk". Gastroenterology. 121 (2): 282–301. doi:10.1053/gast.2001.26265. PMID 11487538.
• Guldenschuh I, Hurlimann R, Muller A, Ammann R, Mullhaupt B, Dobbie Z, Zala GF, Flury R, Seelentag W, Roth J, Meyenberger C, Fried M, Hoppeler T, Spigelman AD, Scott RJ (August 2001). "Relationship between APC genotype, polyp distribution, and oral sulindac treatment in the colon and rectum of patients with familial adenomatous polyposis". Dis. Colon Rectum. 44 (8): 1090–7, discussion 1097–9. doi:10.1007/bf02234627. PMID 11535846. S2CID 41605505.
• Ruiz-Ponte C, Vega A, Conde R, Barros F, Carracedo A (October 2001). "The Asp1822Val variant of the APC gene is a common polymorphism without clinical implications". J. Med. Genet. 38 (10): 33e–33. doi:10.1136/jmg.38.10.e33. PMC 1734740. PMID 11584047.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.