| UniProt Protein Function: | WTX: a peripheral membrane protein on the cytoplasmic side that shuttles between nucleus and cytoplasm. Detected in nuclear paraspeckles that are found close to splicing speckles. Enhances trancription activation by WT1. Promotes CTNNB1 ubiquitination and degradation. Antagonizes Wnt and CTNNB1 signaling. Inactivated in approximately one-third of Wilms tumors. Detected in fetal and adult kidney, brain and spleen. Involved in kidney development. Interacts with CTNNB1, AXIN1, KEAP1, APC and BTRC. Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes containing BTRC and/or FBXW11. Identified in a complex containing CTNNB1, APC, AXIN1 and AXIN2. Two alternatively spliced human isoforms have been reported. Chromosomal Location of Human Ortholog: Xq11.2 Cellular Component: cytosol; intracellular membrane-bound organelle; nucleus; plasma membrane Molecular Function: beta-catenin binding; phosphatidylinositol-4,5-bisphosphate binding; protein binding Biological Process: anatomical structure development; positive regulation of protein ubiquitination; proteasomal ubiquitin-dependent protein catabolic process; Wnt receptor signaling pathway Disease: Osteopathia Striata With Cranial Sclerosis |
| UniProt Protein Details: | |
| NCBI Summary: | 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] |
| UniProt Code: | Q5JTC6 |
| NCBI GenInfo Identifier: | 142984753 |
| NCBI Gene ID: | 139285 |
| NCBI Accession: | Q5JTC6.2 |
| UniProt Secondary Accession: | Q5JTC6,Q8N885, A2IB86 |
| UniProt Related Accession: | Q5JTC6 |
| Molecular Weight: | 87,823 Da |
| NCBI Full Name: | APC membrane recruitment protein 1 |
| NCBI Synonym Full Names: | APC membrane recruitment protein 1 |
| NCBI Official Symbol: | AMER1 |
| NCBI Official Synonym Symbols: | WTX; OSCS; FAM123B |
| NCBI Protein Information: | APC membrane recruitment protein 1 |
| UniProt Protein Name: | APC membrane recruitment protein 1 |
| UniProt Synonym Protein Names: | Protein FAM123B; Wilms tumor gene on the X chromosome protein |
| Protein Family: | APC membrane recruitment protein |
| UniProt Gene Name: | AMER1 |
| UniProt Entry Name: | AMER1_HUMAN |
