AMER1 Gene Summary [Human]
The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
Details
| Type | Protein Coding |
| Official Symbol | AMER1 |
| Official Name | APC membrane recruitment protein 1 [Source:HGNC Symbol;Acc:HGNC:26837] |
| Ensembl ID | ENSG00000184675 |
| Bio databases IDs | |
| Aliases | APC membrane recruitment protein 1, Wilms Tumor on the X, adenomatous polyposis coli membrane recruitment 1 |
| Synonyms | 2810002O09RIK, ACTS, APC membrane recruitment 1, APC membrane recruitment protein 1, AW492303, FAM123B, OSCS, RGD1560322, WTX |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AMER1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- REA repeat
- binding protein
- membrane-association domain
- beta-catenin binding
- phosphatidylinositol-4,5-bisphosphate binding
- F-type ATP synthase, membrane subunit b
- WTX protein
- ETGE motif
- protein binding
- ATP synthase B/B' CF(0)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- colorectal cancer
- salivary gland cancer
- epithelial cancer
- osteopathia striata with cranial sclerosis
- osteosclerosis
- metastasis
- Wilms tumor
- Wilms tumorigenesis
- cyanosis
- hypoplasia
role in cell
- expression in
- apoptosis
- transcription in
- binding in
- cell death
- signaling in
- degradation in
- cell cycle progression
- acetylation in
- stabilization in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- intracellular membrane-bounded organelle
- Cytoplasm
- Nucleus
- cytosol
- nuclear bodies
- nuclear speckles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AMER1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of canonical Wnt receptor signaling pathway
- regulation of canonical Wnt receptor signaling pathway
- positive regulation of protein ubiquitination
- positive regulation of canonical Wnt receptor signaling pathway
- Wnt receptor signaling pathway
- positive regulation of protein catabolic process
- mesenchymal cell differentiation involved in kidney development
- bone development
- adipose tissue development
Cellular Component
Where in the cell the gene product is active
- nuclear body
- intracellular membrane-bounded organelle
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- phosphatidylinositol-4,5-bisphosphate binding
- protein binding
- beta-catenin binding