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Details on Person UniProt:Q5JTC6 AMER1
| Class:Id | ReferenceGeneProduct:228772 |
|---|---|
| _chainChangeLog | chain:1-1135 added on Fri February 6 2015 |
| _displayName | UniProt:Q5JTC6 AMER1 |
| _timestamp | 2024-11-03 19:55:06 |
| chain | chain:1-1135 |
| checksum | 7C77EF692A0F60D3 |
| comment | 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.SUBUNIT Interacts with CTNNB1, AXIN1, LRP6, KEAP1, APC and BTRC. Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes containing BTRC and/or FBXW11. Identified in the beta-catenin destruction complex containing CTNNB1, APC, AXIN1 and AXIN2. Interacts with WT1.INTERACTION 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.ALTERNATIVE PRODUCTS Detected in fetal and adult kidney, brain and spleen.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Inactivated in approximately one-third of Wilms tumors.SIMILARITY Belongs to the Amer family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: APC membrane recruitment protein 1 shortName: Amer1 alternativeName: Protein FAM123B alternativeName: Wilms tumor gene on the X chromosome protein |
| geneName | AMER1 FAM123B WTX |
| identifier | Q5JTC6 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Cell membrane Cytoplasm Lipid-binding Membrane Nucleus Phosphoprotein Proteomics identification Reference proteome Wnt signaling pathway |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | AMER1 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:5251427] ENSEMBL:ENSG00000184675 AMER1 [Homo sapiens] |
| secondaryIdentifier | AMER1_HUMAN A2IB86 Q8N885 |
| sequenceLength | 1135 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:228773] UniProt:Q5JTC6-2 AMER1 [Homo sapiens] [ReferenceIsoform:407166] UniProt:Q5JTC6-1 AMER1 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:1504189] AMER1 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:4839640] AMER1 R358* [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5251492] AMER1 S210* [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5251493] AMER1 S78R fs*22 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9663939] AMER1 R353* [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9663943] AMER1 R497* [cytosol] [Homo sapiens] |
| (referenceSequence) | [NonsenseMutation:4839732] Nonsense mutation at L-arginine 358 [FragmentReplacedModification:5251495] Replacement of residues 78 to 98 by RKVLGKAAPRKVSARARPTMA [NonsenseMutation:5340547] Nonsense mutation at L-serine 210 [NonsenseMutation:9663932] Nonsense mutation at L-arginine 353 [NonsenseMutation:9663934] Nonsense mutation at L-arginine 497 |
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No pathways have been reviewed or authored by UniProt:Q5JTC6 AMER1 (228772)
