Reviewed,
UniProtKB/Swiss-Prot P25054 (APC_HUMAN)
Last modified
November 3, 2009.
Version 134.
History...
Clusters with 100%,
90%,
50% identity |
Documents (6) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Adenomatous polyposis coli protein Short name=Protein APC Alternative name(s): Deleted in polyposis 2.5 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Complete proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2843 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Ref.3 |
| Subunit structure | Forms homooligomers. Interacts with DIAPH1 and DIAPH2 By similarity. Interacts with PDZ domains of DLG1 and DLG3. Associates with catenins. Binds axin. Interacts with the N-terminus of ARHGEF4, and the C-terminus of MAPRE1, MAPRE2 and MAPRE3. Found in a complex consisting of ARHGEF4, APC and CTNNB1. Interacts with APC2. Interacts with SCRIB; may mediate APC targeting to adherens junctions of epithelial cells. |
| Subcellular location | |
| Tissue specificity | Expressed in a variety of tissues. |
| Post-translational modification | Phosphorylated by GSK3B. Ref.13 Ref.15 Ref.17 Ref.18 Ubiquitinated, leading to its degradation by the proteasome. Ubiquitination is facilitated by Axin. Deubiquitinated by ZRANB1/TRABID. Ref.12 Ref.16 |
| Involvement in disease | Defects in APC are a cause of familial adenomatous polyposis (FAP) [MIM:175100]; which includes also Gardner syndrome (GS). FAP and GS contribute to tumor development in patients with uninherited forms of colorectal cancer. FAP is characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. Ref.6 Ref.9 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.31 Ref.37 Ref.38 Defects in APC are a cause of hereditary desmoid disease (HDD) [MIM:135290]; also known as familial infiltrative fibromatosis (FIF). HDD is an autosomal dominant trait with 100% penetrance and possible variable expression among affected relatives. HDD patients show multifocal fibromatosis of the paraspinal muscles, breast, occiput, arms, lower ribs, abdominal wall, and mesentery. Desmoid tumors appears also as a complication of familial adenomatous polyposis. Ref.6 Ref.9 Defects in APC are a cause of medulloblastoma (MDB) [MIM:155255]. MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Although the majority of medulloblastomas occur sporadically, some manifest within familial cancer syndromes such as Turcot syndrome and basal cell nevus syndrome (Gorlin syndrome). Ref.6 Ref.9 Ref.39 Defects in APC are a cause of mismatch repair cancer syndrome (MMRCS) [MIM:276300]; also known as Turcot syndrome or brain tumor-polyposis syndrome 1 (BTPS1). MMRCS is an autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots. Ref.6 Ref.9 Ref.30 |
| Miscellaneous | APC mutations have led to some interesting observations. (1) the great majority of the mutations found to date would result in truncation of the APC product. (2) almost all the mutations have occurred within the first half of the coding sequence, and somatic mutations in colorectal tumors are further clustered in a particular region, called MCR (mutation cluster region). (3) most identified point mutations in the APC gene are transitions from cytosine to other nucleotides. (4) the location of germline mutations tends to correlate with the number of colorectal polyps in FAP patients. Inactivation of both alleles of the APC gene seems to be required as an early event to develop most adenomas and carcinomas in the colon and rectum as well as some of those in the stomach. |
| Sequence similarities | Belongs to the adenomatous polyposis coli (APC) family. Contains 7 ARM repeats. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| CSNK1E | P49674 | 1 | EBI-727707,EBI-749343 | |
| Ctnnb1 | Q02248 | 3 | EBI-727707,EBI-397872 | From a different organism. |
| MAPRE1 | Q15691 | 3 | EBI-727707,EBI-1004115 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Long (identifier: P25054-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform Short (identifier: P25054-2) The sequence of this isoform differs from the canonical sequence as follows: 312-412: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2843 | 2843 | Adenomatous polyposis coli protein | PRO_0000064627 | |||||||||||||||||||||
Regions | |||||||||||||||||||||||||
| Repeat | 453 – 495 | 43 | ARM 1 | ||||||||||||||||||||||
| Repeat | 505 – 547 | 43 | ARM 2 | ||||||||||||||||||||||
| Repeat | 548 – 591 | 44 | ARM 3 | ||||||||||||||||||||||
| Repeat | 592 – 638 | 47 | ARM 4 | ||||||||||||||||||||||
| Repeat | 639 – 683 | 45 | ARM 5 | ||||||||||||||||||||||
| Repeat | 684 – 725 | 42 | ARM 6 | ||||||||||||||||||||||
| Repeat | 726 – 767 | 42 | ARM 7 | ||||||||||||||||||||||
| Region | 960 – 1337 | 378 | Responsible for down-regulation through a process mediated by direct ubiquitination | ||||||||||||||||||||||
| Region | 1866 – 1893 | 28 | Highly charged | ||||||||||||||||||||||
| Coiled coil | 1 – 61 | 61 | Potential | ||||||||||||||||||||||
| Coiled coil | 127 – 248 | 122 | Potential | ||||||||||||||||||||||
| Motif | 2841 – 2843 | 3 | PDZ-binding | ||||||||||||||||||||||
| Compositional bias | 1 – 730 | 730 | Leu-rich | ||||||||||||||||||||||
| Compositional bias | 731 – 2832 | 2102 | Ser-rich | ||||||||||||||||||||||
| Compositional bias | 1131 – 1156 | 26 | Asp/Glu-rich (acidic) | ||||||||||||||||||||||
| Compositional bias | 1558 – 1577 | 20 | Asp/Glu-rich (acidic) | ||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||
| Modified residue | 780 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 1038 | 1 | Phosphoserine By similarity | ||||||||||||||||||||||
| Modified residue | 1042 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 1180 | 1 | Phosphoserine By similarity | ||||||||||||||||||||||
| Modified residue | 1360 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 1371 | 1 | Phosphoserine By similarity | ||||||||||||||||||||||
| Modified residue | 1559 | 1 | Phosphoserine By similarity | ||||||||||||||||||||||
| Modified residue | 1697 | 1 | Phosphothreonine By similarity | ||||||||||||||||||||||
| Modified residue | 1861 | 1 | Phosphoserine Ref.13 Ref.18 | ||||||||||||||||||||||
| Modified residue | 1863 | 1 | Phosphoserine Ref.13 Ref.18 | ||||||||||||||||||||||
| Modified residue | 1864 | 1 | Phosphoserine Ref.13 Ref.18 | ||||||||||||||||||||||
| Modified residue | 2088 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2093 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2096 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2125 | 1 | Phosphoserine Ref.17 | ||||||||||||||||||||||
| Modified residue | 2143 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2151 | 1 | Phosphothreonine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2260 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2270 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2283 | 1 | Phosphoserine Ref.15 Ref.18 | ||||||||||||||||||||||
| Modified residue | 2398 | 1 | Phosphoserine Ref.13 | ||||||||||||||||||||||
| Modified residue | 2464 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2469 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2473 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2533 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2535 | 1 | Phosphoserine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2671 | 1 | Phosphoserine Ref.17 Ref.18 | ||||||||||||||||||||||
| Modified residue | 2674 | 1 | Phosphoserine Ref.17 Ref.18 | ||||||||||||||||||||||
| Modified residue | 2676 | 1 | Phosphothreonine Ref.17 | ||||||||||||||||||||||
| Modified residue | 2679 | 1 | Phosphothreonine Ref.18 | ||||||||||||||||||||||
| Modified residue | 2710 | 1 | Phosphoserine By similarity | ||||||||||||||||||||||
| Modified residue | 2789 | 1 | Phosphoserine Ref.17 Ref.18 | ||||||||||||||||||||||
| Modified residue | 2835 | 1 | Phosphoserine Ref.17 | ||||||||||||||||||||||
| Modified residue | 2837 | 1 | Phosphoserine Ref.17 | ||||||||||||||||||||||
| Modified residue | 2838 | 1 | Phosphotyrosine Ref.17 | ||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||
| Alternative sequence | 312 – 412 | 101 | Missing in isoform Short. | VSP_004115 | |||||||||||||||||||||
| Natural variant | 99 | 1 | R → W in FAP; could be a rare polymorphism. Ref.27 | VAR_009613 | |||||||||||||||||||||
| Natural variant | 171 | 1 | S → I in FAP. Ref.31 | VAR_005032 | |||||||||||||||||||||
| Natural variant | 414 | 1 | R → C in FAP. | VAR_005033 | |||||||||||||||||||||
| Natural variant | 722 | 1 | S → G in FAP. Ref.28 | VAR_009614 | |||||||||||||||||||||
| Natural variant | 784 | 1 | S → T in FAP. | VAR_005034 | |||||||||||||||||||||
| Natural variant | 817 | 1 | G → C in gastric cancer. | VAR_005035 | |||||||||||||||||||||
| Natural variant | 870 | 1 | P → S: dbSNP rs33974176. | VAR_053976 | |||||||||||||||||||||
| Natural variant | 880 | 1 | I → T in colorectal carcinoma and gastric cancer; from a patient with MMRCS. Ref.32 | VAR_005036 | |||||||||||||||||||||
| Natural variant | 890 | 1 | V → I in colorectal carcinoma; from a patient with MMRCS. Ref.32 | VAR_012975 | |||||||||||||||||||||
| Natural variant | 906 | 1 | S → Y in colorectal tumor. | VAR_005037 | |||||||||||||||||||||
| Natural variant | 911 | 1 | E → G in FAP and colorectal tumor. | VAR_005038 | |||||||||||||||||||||
| Natural variant | 942 | 1 | N → D in gastric cancer. | VAR_005039 | |||||||||||||||||||||
| Natural variant | 1027 | 1 | Y → C in colorectal tumor. | VAR_005040 | |||||||||||||||||||||
| Natural variant | 1057 | 1 | E → G in non-FAP. Ref.37 | VAR_009615 | |||||||||||||||||||||
| Natural variant | 1118 | 1 | N → D | VAR_005041 | |||||||||||||||||||||
| Natural variant | 1120 | 1 | G → E in gastric cancer. | VAR_005042 | |||||||||||||||||||||
| Natural variant | 1171 | 1 | R → C in FAP; could be a polymorphism. Ref.37 | VAR_008992 | |||||||||||||||||||||
| Natural variant | 1171 | 1 | R → H in gastric cancer. | VAR_005043 | |||||||||||||||||||||
| Natural variant | 1176 | 1 | P → L in FAP. | VAR_005044 | |||||||||||||||||||||
| Natural variant | 1184 | 1 | A → P in FAP. Ref.38 | VAR_009616 | |||||||||||||||||||||
| Natural variant | 1197 | 1 | F → S in gastric cancer. | VAR_005045 | |||||||||||||||||||||
| Natural variant | 1254 | 1 | I → F in a colorectal cancer sample; somatic mutation. Ref.40 | VAR_035794 | |||||||||||||||||||||
| Natural variant | 1259 | 1 | I → T in gastric cancer. | VAR_005046 | |||||||||||||||||||||
| Natural variant | 1292 | 1 | T → M | VAR_005047 | |||||||||||||||||||||
| Natural variant | 1296 | 1 | A → V in MDB; sporadic. Ref.39 | VAR_017653 | |||||||||||||||||||||
| Natural variant | 1304 | 1 | I → V | VAR_005048 | |||||||||||||||||||||
| Natural variant | 1307 | 1 | I → K in 6% of Ashkenazi Jews; associated with slightly increased risk of colon and breast cancer. dbSNP rs1801155. Ref.33 Ref.34 Ref.35 Ref.36 | VAR_005049 | |||||||||||||||||||||
| Natural variant | 1312 | 1 | G → E in gastric cancer. | VAR_005050 | |||||||||||||||||||||
| Natural variant | 1313 | 1 | T → A in FAP and colorectal tumor. | VAR_005051 | |||||||||||||||||||||
| Natural variant | 1317 | 1 | E → Q May contribute to colorectal tumor development. dbSNP rs1801166. Ref.34 | VAR_009617 | |||||||||||||||||||||
| Natural variant | 1326 | 1 | V → A in gastric cancer. | VAR_005052 | |||||||||||||||||||||
| Natural variant | 1348 | 1 | R → W in FAP. Ref.26 | VAR_005053 | |||||||||||||||||||||
| Natural variant | 1422 | 1 | D → H in colorectal tumor. | VAR_005054 | |||||||||||||||||||||
| Natural variant | 1472 | 1 | V → I in MDB; sporadic. Ref.39 | VAR_017654 | |||||||||||||||||||||
| Natural variant | 1495 | 1 | S → G in MDB; sporadic. Ref.39 | VAR_017655 | |||||||||||||||||||||
| Natural variant | 1496 | 1 | T → S: dbSNP rs2229996. | VAR_020141 | |||||||||||||||||||||
| Natural variant | 1508 | 1 | A → V in colorectal carcinoma from a patient with MMRCS. Ref.32 | VAR_012976 | |||||||||||||||||||||
| Natural variant | 1822 | 1 | V → D: dbSNP rs459552. Ref.37 Ref.1 Ref.2 | VAR_008993 | |||||||||||||||||||||
| Natural variant | 1882 | 1 | R → T: dbSNP rs34157245. | VAR_053977 | |||||||||||||||||||||
| Natural variant | 1973 | 1 | S → T: dbSNP rs4987109. | VAR_020142 | |||||||||||||||||||||
| Natural variant | 2499 | 1 | V → L: dbSNP rs33941929. | VAR_053978 | |||||||||||||||||||||
| Natural variant | 2502 | 1 | G → S: dbSNP rs2229995. Ref.26 | VAR_005055 | |||||||||||||||||||||
| Natural variant | 2621 | 1 | S → C in FAP. | VAR_005056 | |||||||||||||||||||||
| Natural variant | 2738 | 1 | I → T in FAP. Ref.37 | VAR_008994 | |||||||||||||||||||||
| Natural variant | 2839 | 1 | L → F in FAP. | VAR_005057 | |||||||||||||||||||||
Experimental info | |||||||||||||||||||||||||
| Mutagenesis | 2841 | 1 | T → L: Loss of interaction with SCRIB. Ref.14 | ||||||||||||||||||||||
| Mutagenesis | 2843 | 1 | V → Q: Loss of interaction with SCRIB. Ref.14 | ||||||||||||||||||||||
| Sequence conflict | 184 | 1 | M → L in AAA60353. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 184 | 1 | M → L in AAA60354. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 970 | 1 | S → N in AAA60353. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 970 | 1 | S → N in AAA60354. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 1309 | 1 | E → G in AAA60353. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 1309 | 1 | E → G in AAA60354. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 1325 – 1331 | 7 | AVSQHPR → SSVHSTLE in AAA60353. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 1325 – 1331 | 7 | AVSQHPR → SSVHSTLE in AAA60354. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 1355 | 1 | S → P in AAA60353. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 1355 | 1 | S → P in AAA60354. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 1591 | 1 | A → G in AAA60353. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 1591 | 1 | A → G in AAA60354. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 2723 | 1 | N → T in AAA60353. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 2723 | 1 | N → T in AAA60354. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 2755 | 1 | S → P in AAA60353. Ref.1 | ||||||||||||||||||||||
| Sequence conflict | 2755 | 1 | S → P in AAA60354. Ref.1 | ||||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||
| Helix | 6 – 53 | 48 | |||||||||||||||||||||||
| Helix | 132 – 169 | 38 | |||||||||||||||||||||||
| Helix | 180 – 204 | 25 | |||||||||||||||||||||||
| Helix | 208 – 238 | 31 | |||||||||||||||||||||||
| Turn | 1027 – 1030 | 4 | |||||||||||||||||||||||
| Helix | 1470 – 1479 | 10 | |||||||||||||||||||||||
| Helix | 1520 – 1524 | 5 | |||||||||||||||||||||||
| Helix | 2036 – 2045 | 10 | |||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification of deletion mutations and three new genes at the familial polyposis locus." Joslyn G., Carlson M., Thliveris A., Albertsen H., Gelbert L., Samowitz W., Groden J., Stevens J., Spirio L., Robertson M., Sargeant L., Krapcho K., Wolff E., Burt R., Hughes J.P., Warrington J., McPherson J.D., Wasmuth J.J. White R.Cell 66:601-613(1991) [PubMed: 1678319] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT), VARIANT ASP-1822. Tissue: Fetal brain. |
| [2] | "Identification of FAP locus genes from chromosome 5q21." Kinzler K.W., Nilbert M.C., Su L.-K., Vogelstein B., Bryan T.M., Levy D.B., Smith K.J., Preisinger A.C., Hedge P., McKechnie D., Finniear R., Markham A., Groffen J., Boguski M.S., Altschul S.F., Horii A.K., Ando H., Miyoshi Y. Nakamura Y.Science 253:661-665(1991) [PubMed: 1651562] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), VARIANT ASP-1822. |
| [3] | "Asef, a link between the tumor suppressor APC and G-protein signaling." Kawasaki Y., Senda T., Ishidate T., Koyama R., Morishita T., Iwayama Y., Higuchi O., Akiyama T. Science 289:1194-1197(2000) [PubMed: 10947987] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH ARHGEF4, IDENTIFICATION IN A COMPLEX WITH ARHGEF4 AND CTNNB1. |
| [4] | "Disruption of the APC gene by a retrotransposal insertion of L1 sequence in a colon cancer." Miki Y., Nishisho I., Horii A., Miyoshi Y., Utsunomiya J., Kinzler K.W., Vogelstein B., Nakamura Y. Cancer Res. 52:643-645(1992) [PubMed: 1310068] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1506-1524. |
| [5] | "Association of the APC tumor suppressor protein with catenins." Su L.-K., Vogelstein B., Kinzler K.W. Science 262:1734-1737(1993) [PubMed: 8259519] [Abstract] Cited for: ASSOCIATION WITH CATENINS. |
| [6] | "Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene." Eccles D.M., van der Luijt R.B., Breukel C., Bullman H., Bunyan D., Fisher A., Barber J., du Boulay C., Primrose J., Burn J., Fodde R. Am. J. Hum. Genet. 59:1193-1201(1996) [PubMed: 8940264] [Abstract] Cited for: INVOLVEMENT IN HEREDITARY DESMOID DISEASE. |
| [7] | "Binding of APC to the human homolog of the Drosophila discs large tumor suppressor protein." Matsumine A., Ogai A., Senda T., Okumura N., Satoh K., Baeg G.-H., Kawahara T., Kobayashi S., Okada M., Toyoshima K., Akiyama T. Science 272:1020-1023(1996) [PubMed: 8638125] [Abstract] Cited for: INTERACTION WITH DLG1. |
| [8] | "Cloning and characterization of NE-dlg: a novel human homolog of the Drosophila discs large (dlg) tumor suppressor protein interacts with the APC protein." Makino K., Kuwahara H., Masuko N., Nishiyama Y., Morisaki T., Sasaki J., Nakao M., Kuwano A., Nakata M., Ushio Y., Saya H. Oncogene 14:2425-2433(1997) [PubMed: 9188857] [Abstract] Cited for: INTERACTION WITH DLG3. Tissue: Fetal brain. |
| [9] | "A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor." Couture J., Mitri A., Lagace R., Smits R., Berk T., Bouchard H.-L., Fodde R., Alman B., Bapat B. Clin. Genet. 57:205-212(2000) [PubMed: 10782927] [Abstract] Cited for: INVOLVEMENT IN HEREDITARY DESMOID DISEASE. |
| [10] | "Human APC2 localization and allelic imbalance." Jarrett C.R., Blancato J., Cao T., Bressette D.S., Cepeda M., Young P.E., King C.R., Byers S.W. Cancer Res. 61:7978-7984(2001) [PubMed: 11691822] [Abstract] Cited for: INTERACTION WITH APC2. |
| [11] | "Characterization of functional domains of human EB1 family proteins." Bu W., Su L.-K. J. Biol. Chem. 278:49721-49731(2003) [PubMed: 14514668] [Abstract] Cited for: INTERACTION WITH MAPRE1; MAPRE2 AND MAPRE3. |
| [12] | "Adenomatous polyposis coli is down-regulated by the ubiquitin-proteasome pathway in a process facilitated by Axin." Choi J., Park S.Y., Costantini F., Jho E.-H., Joo C.-K. J. Biol. Chem. 279:49188-49198(2004) [PubMed: 15355978] [Abstract] Cited for: UBIQUITINATION. |
| [13] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1861; SER-1863; SER-1864 AND SER-2398, MASS SPECTROMETRY. Tissue: Epithelium. |
| [14] | "Human scribble, a novel tumor suppressor identified as a target of high-risk HPV E6 for ubiquitin-mediated degradation, interacts with adenomatous polyposis coli." Takizawa S., Nagasaka K., Nakagawa S., Yano T., Nakagawa K., Yasugi T., Takeuchi T., Kanda T., Huibregtse J.M., Akiyama T., Taketani Y. Genes Cells 11:453-464(2006) [PubMed: 16611247] [Abstract] Cited for: SUBCELLULAR LOCATION, INTERACTION WITH SCRIB, MUTAGENESIS OF THR-2841 AND VAL-2843. |
| [15] | "A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2283, MASS SPECTROMETRY. Tissue: Epithelium. |
| [16] | "Trabid, a new positive regulator of Wnt-induced transcription with preference for binding and cleaving K63-linked ubiquitin chains." Tran H., Hamada F., Schwarz-Romond T., Bienz M. Genes Dev. 22:528-542(2008) [PubMed: 18281465] [Abstract] Cited for: DEUBIQUITINATION. |
| [17] | "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis." Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III J. Proteome Res. 7:1346-1351(2008) [PubMed: 18220336] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2125; SER-2671; SER-2674; THR-2676; SER-2789; SER-2835; SER-2837 AND TYR-2838, MASS SPECTROMETRY. |
| [18] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-780; SER-1042; SER-1360; SER-1861; SER-1863; SER-1864; SER-2088; SER-2093; SER-2096; SER-2143; THR-2151; SER-2260; SER-2270; SER-2283; SER-2464; SER-2469; SER-2473; SER-2533; SER-2535; SER-2671; SER-2674; THR-2679 AND SER-2789, MASS SPECTROMETRY. |
| [19] | "Crystal structure of the amino-terminal coiled-coil domain of the APC tumor suppressor." Day C.L., Alber T. J. Mol. Biol. 301:147-156(2000) [PubMed: 10926498] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.4 ANGSTROMS) OF 2-55. |
| [20] | "Molecular mechanisms of beta-catenin recognition by adenomatous polyposis coli revealed by the structure of an APC-beta-catenin complex." Eklof Spink K., Fridman S.G., Weis W.I. EMBO J. 20:6203-6212(2001) [PubMed: 11707392] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (3.1 ANGSTROMS) OF 1021-1035 IN COMPLEX WITH CTNNB1. |
| [21] | "Structural basis of the axin-adenomatous polyposis coli interaction." Spink K.E., Polakis P., Weis W.I. EMBO J. 19:2270-2279(2000) [PubMed: 10811618] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 2034-2049 IN COMPLEX WITH AXIN. |
| [22] | "Mutations of the APC (adenomatous polyposis coli) gene." Nagase H., Nakamura Y. Hum. Mutat. 2:425-434(1993) [PubMed: 8111410] [Abstract] Cited for: REVIEW ON VARIANTS. |
| [23] | "Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients." Nishisho I., Nakamura Y., Miyoshi Y., Miki Y., Ando H., Horii A., Koyama K., Utsunomiya J., Baba S., Hedge P., Markham A., Krush A.J., Petersen G.M., Hamilton S.R., Nilbert M.C., Levy D.B., Bryan T.M., Preisinger A.C. Vogelstein B.Science 253:665-669(1991) [PubMed: 1651563] [Abstract] Cited for: VARIANTS FAP. |
| [24] | "Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene." Miyoshi Y., Nagase H., Ando H., Ichii S., Nakatsuru S., Aoki T., Miki Y., Mori T., Nakamura Y. Hum. Mol. Genet. 1:229-233(1992) [PubMed: 1338904] [Abstract] Cited for: VARIANTS FAP. |
| [25] | "Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma." Nakatsuru S., Yanagisawa A., Ichii S., Tahara E., Kato Y., Nakamura Y., Horii A. Hum. Mol. Genet. 1:559-563(1992) [PubMed: 1338691] [Abstract] Cited for: VARIANTS FAP. |
| [26] | "Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients." Nagase H., Miyoshi Y., Horii A., Aoki T., Petersen G.M., Vogelstein B., Maher E., Ogawa M., Maruyama M., Utsunomiya J., Baba S., Nakamura Y. Hum. Mutat. 1:467-473(1992) [PubMed: 1338764] [Abstract] Cited for: VARIANT FAP TRP-1348, VARIANTS ASP-1118; MET-1292; VAL-1304 AND SER-2502. |
| [27] | "Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene." Dobbie Z., Spycher M., Huerliman R., Ammann R., Ammann T., Roth J., Mueller A., Mueller H., Scott R.J. Eur. J. Cancer 30A:1709-1713(1994) [PubMed: 7833149] [Abstract] Cited for: VARIANT FAP TRP-99. Tissue: Peripheral blood lymphocyte. |
| [28] | "Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients." Stella A., Montera M., Resta N., Marchese C., Susca F., Gentile M., Romio L., Pilia S., Prete F., Mareni C., Guanti G. Hum. Mol. Genet. 3:1687-1688(1994) [PubMed: 7833931] [Abstract] Cited for: VARIANT FAP GLY-722. |
| [29] | Erratum Stella A., Montera M., Resta N., Marchese C., Susca F., Gentile M., Romio L., Pilia S., Prete F., Mareni C., Guanti G. Hum. Mol. Genet. 3:1918-1918(1994) |
| [30] | "The molecular basis of Turcot's syndrome." Hamilton S.R., Liu B., Parsons R.E., Papadopoulos N., Jen J., Powell S.M., Krush A.J., Berk T., Cohen Z., Tetu B., Burger P.C., Wood P.A., Taqi F., Booker S.V., Petersen G.M., Offerhaus G.J.A., Tersmette A.C., Giardiello F.M., Vogelstein B., Kinzler K.W. N. Engl. J. Med. 332:839-847(1995) [PubMed: 7661930] [Abstract] Cited for: INVOLVEMENT IN MMRCS. |
| [31] | "Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis." van der Luijt R.B., Meera Khan P., Vasen H.F.A., Tops C.M.J., van Leeuwen-Cornelisse I.S.J., Wijnen J.T., van der Klift H.M., Plug R.J., Griffioen G., Fodde R. Hum. Mutat. 9:7-16(1997) [PubMed: 8990002] [Abstract] Cited for: VARIANT FAP ILE-171. |
| [32] | "Drastic genetic instability of tumors and normal tissues in Turcot syndrome." Miyaki M., Nishio J., Konishi M., Kikuchi-Yanoshita R., Tanaka K., Muraoka M., Nagato M., Chong J.-M., Koike M., Terada T., Kawahara Y., Fukutome A., Tomiyama J., Chuganji Y., Momoi M., Utsunomiya J. Oncogene 15:2877-2881(1997) [PubMed: 9419979] [Abstract] Cited for: VARIANTS COLORECTAL CARCINOMA THR-880; ILE-890 AND VAL-1508. |
| [33] | "The APC I1307K allele and breast cancer risk." Redston M., Nathanson K.L., Yuan Z.Q., Neuhausen S.L., Satagopan J., Wong N., Yang D., Nafa D., Abrahamson J., Ozcelik H., Antin-Ozerkis D., Andrulis I., Daly M., Pinsky L., Schrag D., Gallinger S., Kaback M., King M.-C. Offit K.Nat. Genet. 20:13-14(1998) [PubMed: 9731522] [Abstract] Cited for: VARIANT LYS-1307. |
| [34] | "The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history." Frayling I.M., Beck N.E., Ilyas M., Dove-Edwin I., Goodman P., Pack K., Bell J.A., Williams C.B., Hodgson S.V., Thomas H.J.W., Talbot I.C., Bodmer W.F., Tomlinson I.P.M. Proc. Natl. Acad. Sci. U.S.A. 95:10722-10727(1998) [PubMed: 9724771] [Abstract] Cited for: VARIANTS LYS-1307 AND GLN-1317. Tissue: Peripheral blood. |
| [35] | "The APC I1307K allele and cancer risk in a community-based study of Ashkenazi Jews." Woodage T., King S.M., Wacholder S., Hartge P., Struewing J.P., McAdams M., Laken S.J., Tucker M.A., Brody L.C. Nat. Genet. 20:62-65(1998) [PubMed: 9731533] [Abstract] Cited for: VARIANT LYS-1307. |
| [36] | "Inherited colorectal polyposis and cancer risk of the APC I1307K polymorphism." Gryfe R., Di Nicola N., Lal G., Gallinger S., Redston M. Am. J. Hum. Genet. 64:378-384(1999) [PubMed: 9973276] [Abstract] Cited for: VARIANT LYS-1307. |
| [37] | "Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition." Wallis Y.L., Morton D.G., McKeown C.M., Macdonald F. J. Med. Genet. 36:14-20(1999) [PubMed: 9950360] [Abstract] Cited for: VARIANTS FAP CYS-1171 AND THR-2738, VARIANTS GLY-1057 AND ASP-1822. |
| [38] | "The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis." Lamlum H., Ilyas M., Rowan A., Clark S., Johnson V., Bell J.A., Frayling I.M., Efstathiou J., Pack K., Payne S., Roylance R., Gorman P., Sheer D., Neale K., Phillips R., Talbot I.C., Bodmer W.F., Tomlinson I.P.M. Nat. Med. 5:1071-1075(1999) [PubMed: 10470088] [Abstract] Cited for: VARIANT FAP PRO-1184. |
| [39] | "APC mutations in sporadic medulloblastomas." Huang H., Mahler-Araujo B.M., Sankila A., Chimelli L., Yonekawa Y., Kleihues P., Ohgaki H. Am. J. Pathol. 156:433-437(2000) [PubMed: 10666372] [Abstract] Cited for: VARIANTS MDB VAL-1296; ILE-1472 AND GLY-1495. |
| [40] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-1254. |
| + | Additional computationally mapped references. |
Web resources
| APC Information about APC mutations |
| Atlas of Genetics and Cytogenetics in Oncology and Haematology |
| GeneDis Familial adenomatous polyposis (FAP) website |
| GeneReviews |
| SHMPD The Singapore human mutation and polymorphism database |
| Wikipedia APC entry |
Cross-references
Sequence databases | |||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M73548 mRNA. Translation: AAA60353.1. M73548 mRNA. Translation: AAA60354.1. M74088 mRNA. Translation: AAA03586.1. S78214 Genomic DNA. Translation: AAB21145.2. Sequence problems. | |||||||||||||||||||||||||||||||||||||||||||||||||
| IPI | IPI00012391. IPI00215877. | ||||||||||||||||||||||||||||||||||||||||||||||||
| PIR | RBHUAP. A37261. | ||||||||||||||||||||||||||||||||||||||||||||||||
| RefSeq | NP_000029.2. NP_001120982.1. NP_001120983.1. | ||||||||||||||||||||||||||||||||||||||||||||||||
| UniGene | Hs.158932 | ||||||||||||||||||||||||||||||||||||||||||||||||
3D structure databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| |||||||||||||||||||||||||||||||||||||||||||||||||
| DisProt | DP00519. | ||||||||||||||||||||||||||||||||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||||||||||||||||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| IntAct | P25054. 14 interactions. | ||||||||||||||||||||||||||||||||||||||||||||||||
| STRING | P25054. | ||||||||||||||||||||||||||||||||||||||||||||||||
PTM databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| PhosphoSite | P25054. | ||||||||||||||||||||||||||||||||||||||||||||||||
Proteomic databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| PRIDE | P25054. | ||||||||||||||||||||||||||||||||||||||||||||||||
Genome annotation databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| Ensembl | ENST00000257430; ENSP00000257430; ENSG00000134982; Homo sapiens. [Genome view] ENST00000395617; ENSP00000378979; ENSG00000134982; Homo sapiens. [Genome view] ENST00000457016; ENSP00000413133; ENSG00000134982; Homo sapiens. [Genome view] | ||||||||||||||||||||||||||||||||||||||||||||||||
| GeneID | 324. | ||||||||||||||||||||||||||||||||||||||||||||||||
| KEGG | hsa:324. | ||||||||||||||||||||||||||||||||||||||||||||||||
| UCSC | uc003kpy.2. human. | ||||||||||||||||||||||||||||||||||||||||||||||||
Organism-specific databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| CTD | 324. | ||||||||||||||||||||||||||||||||||||||||||||||||
| GeneCards | GC05P112101. | ||||||||||||||||||||||||||||||||||||||||||||||||
| H-InvDB | HIX0031955. | ||||||||||||||||||||||||||||||||||||||||||||||||
| HGNC | HGNC:583. APC. | ||||||||||||||||||||||||||||||||||||||||||||||||
| HPA | CAB025994. HPA013349. | ||||||||||||||||||||||||||||||||||||||||||||||||
| MIM | 135290. phenotype. 155255. phenotype. 175100. phenotype. 276300. phenotype. 611731. gene. | ||||||||||||||||||||||||||||||||||||||||||||||||
| Orphanet | 873. Desmoid disease. 733. Familial adenomatous polyposis. 79665. Gardner syndrome. 616. Medulloblastoma. 99818. Turcot syndrome with polyposis. | ||||||||||||||||||||||||||||||||||||||||||||||||
| PharmGKB | PA24875. | ||||||||||||||||||||||||||||||||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||||||||||||||||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| HOVERGEN | P25054. | ||||||||||||||||||||||||||||||||||||||||||||||||
| OMA | FATESTP. | ||||||||||||||||||||||||||||||||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| Pathway_Interaction_DB | wnt_canonical_pathway. Canonical Wnt signaling pathway. ps1pathway. Presenilin action in Notch and Wnt signaling. | ||||||||||||||||||||||||||||||||||||||||||||||||
| Reactome | REACT_11045. Signaling by Wnt. REACT_578. Apoptosis. | ||||||||||||||||||||||||||||||||||||||||||||||||
Gene expression databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| ArrayExpress | P25054. | ||||||||||||||||||||||||||||||||||||||||||||||||
| Bgee | P25054. | ||||||||||||||||||||||||||||||||||||||||||||||||
| CleanEx | HS_APC. | ||||||||||||||||||||||||||||||||||||||||||||||||
| Genevestigator | P25054. | ||||||||||||||||||||||||||||||||||||||||||||||||
| GermOnline | ENSG00000134982. Homo sapiens. | ||||||||||||||||||||||||||||||||||||||||||||||||
Family and domain databases | |||||||||||||||||||||||||||||||||||||||||||||||||
| InterPro | IPR009240. APC_15aa. IPR009234. APC_basic. IPR009223. APC_crr. IPR011989. ARM-like. IPR000225. Armadillo. IPR009232. EB1_bd. IPR009224. SAMP. [Graphical view] | ||||||||||||||||||||||||||||||||||||||||||||||||
| Gene3D | G3DSA:1.25.10.10. ARM-like. 1 hit. | ||||||||||||||||||||||||||||||||||||||||||||||||
| Pfam | PF05972. APC_15aa. 4 hits. PF05956. APC_basic. 1 hit. PF05923. APC_crr. 7 hits. PF00514. Arm. 4 hits. PF05937. EB1_binding. 1 hit. PF05924. SAMP. 3 hits. [Graphical view] | ||||||||||||||||||||||||||||||||||||||||||||||||
| SMART | SM00185. ARM. 6 hits. [Graphical view] | ||||||||||||||||||||||||||||||||||||||||||||||||
| PROSITE | PS50176. ARM_REPEAT. 1 hit. [Graphical view] | ||||||||||||||||||||||||||||||||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||||||||||||||||||||||||||||||||
Other Resources | |||||||||||||||||||||||||||||||||||||||||||||||||
| NextBio | 1329. | ||||||||||||||||||||||||||||||||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||||||||||||||||||||||||||||||||
Entry information
| Entry name | APC_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P25054 Secondary accession number(s): Q15162, Q15163, Q93042 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 5 Human chromosome 5: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with


