| Gene Symbol |
AMER1
|
| Entrez Gene |
139285
|
| Alt Symbol |
FAM123B, OSCS, WTX
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
APC membrane recruitment protein 1
|
| Other Description |
RP11-403E24.2|Wilms tumor gene on the X chromosome protein|Wilms tumor on the X|adenomatous polyposis coli membrane recruitment 1|family with sequence similarity 123B|protein FAM123B
|
| Swissprots |
Q5JTC6 Q8N885 A2IB86
|
| Accessions |
EAX05415 Q5JTC6 AK097146 BAC04964 AL833759 DA939151 EF186024 ABM60755 XM_011530858 XP_011529160 NM_152424 NP_689637
|
| Function |
Regulator of the canonical Wnt signaling 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 signaling pathway, such as components of the beta-catenin destruction complex. Acts both as a positive and negative regulator of the Wnt signaling 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 stabilization of Axin at the cell membrane. Promotes CTNNB1 ubiquitination and degradation. Involved in kidney development. {ECO:0000269|PubMed:17510365, ECO:0000269|PubMed:17925383, ECO:0000269|PubMed:19416806, ECO:0000269|PubMed:21304492, ECO:0000269|PubMed:21498506}.
|
| Subcellular Location |
Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note=Shuttles between nucleus and cytoplasm. Detected in nuclear paraspeckles that are found close to splicing speckles. Translocates to the cell membrane following binding to PtdIns(4,5)P2.
|
| Tissue Specificity |
Detected in fetal and adult kidney, brain and spleen. {ECO:0000269|PubMed:19416806}.
|