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AMER1 (APC membrane recruitment protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Skin cancer, Leukaemia and 3 more.
Regulator of the canonical Wnt signalling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signalling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signalling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation.
Open Targets scores its association with cancer at 0.83 (direct and indirect evidence; datatypes affected pathway 0.92, literature 0.90, genetic association 0.77, somatic mutation 0.97, animal model 0.41). IntOGen calls it a driver in 9 cohorts (0 activating, 9 loss-of-function), covering Colon Adenocarcinoma, Colorectal Adenocarcinoma, Rectal Adenocarcinoma, Wilms' Tumour.
In plain words · AMER1 (APC membrane recruitment protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Skin cancer, Leukaemia and 3 more.
AMER1 (APC membrane recruitment protein 1) is a gene whose normal job is to hold cell growth in check. The public catalogues list it as a tumour suppressor, and it is called a cancer driver by mutation analysis of patient cohorts. Tied to Colorectal cancer, Skin cancer, Leukaemia and 3 more.
Regulator of the canonical Wnt signalling pathway.
No product in this corpus aims at AMER1 yet. Because the protein is lost rather than overactive, drugs either restore its function or exploit the weakness its loss leaves (synthetic lethality).
First described 2004. Earliest sequence paper UniProt cites for the protein: Ota et al, Nat. Genet, 2004, "Complete sequencing and characterization of 21,243 full-length human cDNAs". Source.
Sources: HGNC HGNC:26837 (approved symbol, name, aliases, locus and cross-references (hgnc_complete_set.txt)); UniProt Q5JTC6 (protein name, function text, keywords and locations (REST API)); Open Targets ENSG00000184675 (association with cancer (MONDO_0004992) 0.83; per-cancer scores at or above 0.5: colorectal cancer 0.75, melanoma 0.54, skin cancer 0.56, leukaemia 0.50 (GraphQL API, CC0)); IntOGen AMER1 (driver in 9 cohorts (Act 0, LoF 9); Compendium_Cancer_Genes.tsv release 20240920, CC0 1.0)
Regulator of the canonical Wnt signalling pathway. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signalling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signalling pathway, depending on the context: acts as a positive regulator by promoting LRP6 phosphorylation. Also acts as a negative regulator by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilisation of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development. Location: Cytoplasm; Cell membrane; Nucleus (UniProt). Locus Xq11.2 (HGNC).
| Cancer | Prevalence | Measure | Note | Source |
|---|---|---|---|---|
| Colorectal cancer | 6-13% | Inactivating mutation | cBioPortal: 550 of 7,237, 7.6%, in crc_msk_2026; 67 of 534, 12.5%, in coadread_tcga_pan_can_atlas_2018; 25 of 224, 11.2%, in coadread_tcga_pub; 52 of 619, 8.4%, in coadread_dfci_2016; 65 of 1,134, 5.7%, in crc_msk_2017. FAM123B was one of the three genes the TCGA analysis added to the expected driver list, with ARID1A and SOX9 (Cancer Genome Atlas Network 2012). | cBioPortal (TCGA) |
Approximate, population-level figures; the measure column says what was counted. Ranges show the midpoint as a bar.
Query for this target: (TITLE:"AMER1" OR ABSTRACT:"AMER1" OR TITLE:"APC membrane recruitment protein 1" OR ABSTRACT:"APC membrane recruitment protein 1" OR TITLE:"RP11-403E24.2" OR ABSTRACT:"RP11-403E24.2" OR TITLE:"FLJ39827" OR ABSTRACT:"FLJ39827" OR TITLE:"FAM123B" OR ABSTRACT:"FAM123B") AND (cancer OR tumor OR tumour OR oncology OR carcinoma OR lymphoma OR leukemia OR leukaemia OR myeloma OR sarcoma OR melanoma OR glioma). Results are unfiltered search hits about AMER1, not a curated reading list.
Shares Comprehensive molecular characterization of human colon and rectal cancer, Wnt / β-catenin, Skin cancer (all types), IntOGen.
Shares Leukaemia (all types), Skin cancer (all types), IntOGen, Melanoma.
Shares Comprehensive molecular characterization of human colon and rectal cancer, IntOGen, Open Targets Platform, Colorectal cancer.
Shares Wilms tumour (nephroblastoma), IntOGen, Open Targets Platform, Colorectal cancer.
Shares Leukaemia (all types), Skin cancer (all types), IntOGen, Melanoma.
Shares Leukaemia (all types), Skin cancer (all types), Melanoma, Open Targets Platform.
Shares Wilms tumour (nephroblastoma), Leukaemia (all types), IntOGen, Open Targets Platform.
Shares Leukaemia (all types), Skin cancer (all types), IntOGen, Melanoma.