Adenomatous polyposis coli protein
| Adenomatous polyposis coli protein | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 2843 aa; 311.6 kD | |
| Secondary to quaternary structure | Homooligomer | |
| Isoforms | long / short form | |
| Identifier | ||
| Gene names | APC ; DP2.5; DP3; FAP; FPC; GS | |
| External IDs | ||
| Occurrence | ||
| Homology family | HBG004264 | |
| Parent taxon | Vertebrates | |
| Orthologue | ||
| human | mouse | |
| Entrez | 324 | 11789 |
| Ensemble | ENSG00000134982 | ENSMUSG00000005871 |
| UniProt | P25054 | Q8C9I9 |
| Refseq (mRNA) | NM_000038 | XM_622559 |
| Refseq (protein) | NP_000029 | XP_622559 |
| Gene locus | Chr 5: 112.1 - 112.21 Mb | Chr 18: 34.35 - 34.44 Mb |
| PubMed search | 324 |
11789
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The adenomatous polyposis coli (APC) protein is a tumor suppressor found in all vertebrates . APC is a subunit of the degradation complex that normally breaks down β-catenin and is therefore an integral part of the Wnt signaling pathway . If APC is mutated, the cell nucleus is flooded with β-catenin, as if a permanent Wnt signal were given. Mutations in APC - gene may therefore cause of several diseases, such as familial adenomatous polyposis , Gardner's syndrome , medulloblastoma or Turcot syndrome . Other functions of the protein in embryonic development and the stabilization of the AMPA receptor are now known.
Normally the protein forms a protein complex together with the scaffold protein axin and the protein kinase GSK-3β , which binds β-catenin and triggers its breakdown. If a mutation occurs in the APC gene, the affinity of β-catenin for the complex can be reduced and β-catenin accumulates as if the Wnt signaling pathway were activated. As a result, β-catenin migrates into the cell nucleus and binds TCF there, and Wnt target proteins such as cMyc are expressed. The cell proliferates (divides) in an uncontrolled manner, and a cancer cell forms.
literature
- Nagase H, Nakamura Y: Mutations of the APC (adenomatous polyposis coli) gene . In: Hum. Mutat. . 2, No. 6, 1993, pp. 425-34. doi : 10.1002 / humu.1380020602 . PMID 8111410 .
- Hamilton SR, Liu B, Parsons RE, et al. : The molecular basis of Turcot's syndrome . In: N. Engl. J. Med. . 332, No. 13, March 1995, pp. 839-47. PMID 7661930 .
- Friedrich A, Kullmann F: [Familial adenomatous polyposis syndrome (FAP): pathogenesis and molecular mechanisms] . In: Med. Klin. (Munich) . 98, No. 12, December 2003, pp. 776-82. doi : 10.1007 / s00063-003-1325-2 . PMID 14685680 .
Individual evidence
- ↑ Orthologist at OMA
- ↑ UniProt P25054
- ↑ Albert Roessner: General pathology and fundamentals of special pathology . Elsevier, Urban & Fischer, Munich 2008, ISBN 978-3-437-41541-8 , pp. 228 ff .
- ↑ Senda T, Shimomura A, Iizuka-Kogo A: Adenomatous polyposis coli (Apc) tumor suppressor gene as a multifunctional gene . In: Anat Sci Int . 80, No. 3, September 2005, pp. 121-31. doi : 10.1111 / j.1447-073x.2005.00106.x . PMID 16158975 .