AMER1
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.
Overview
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.
- Target · the protein and the cell it sits on
- Drug · antibody, small molecule, cell or radioligand
- Effect · signal, damage or kill
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.
- 1 · What it is
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.
- 2 · What goes wrong in cancer
Regulator of the canonical Wnt signalling pathway.
- 3 · How drugs use it
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).
External identifiers
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)
Biology
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).
- Colorectal cancer: Open Targets association 0.75 with colorectal cancer (MONDO_0005575); IntOGen driver in 7 cohorts (COAD, COADREAD)
- Skin cancer: Open Targets association 0.56 with skin cancer (MONDO_0002898)
- Leukaemia: Open Targets association 0.50 with leukaemia (MONDO_0005059)
- Rectal cancer: IntOGen driver in 1 cohort (READ)
- Wilms tumour: IntOGen driver in 1 cohort (WT)
- Melanoma: Open Targets association 0.54 with melanoma (MONDO_0005105)
Notes
top- Written by scripts/fetch-cancer-genes.ts from CIViC, Open Targets, IntOGen, HGNC and UniProt; the function text is UniProt's, condensed and in UK spelling. Roles: IntOGen calls it a loss-of-function (LoF) driver in 9 cohorts. Evidence tier "cohort-driver" is the strongest of those signals.
- Prevalence not recorded: none of the sources gives a positivity rate.
Latest papers
topQuery 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.
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