Reactome | UniProt:Q5JTC6 AMER1

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UniProt:Q5JTC6 AMER1 Show undefined attributes

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
crossReference	[DatabaseIdentifier:12374649] RefSeq:NP_689637.3 [DatabaseIdentifier:11475105] ENSEMBL:ENSG00000184675 [DatabaseIdentifier:11574109] ENSEMBL:ENSP00000364003 [DatabaseIdentifier:11696808] ENSEMBL:ENST00000374869 [DatabaseIdentifier:11789482] GeneCards:AMER1 [DatabaseIdentifier:11842509] HPA:ENSG00000184675-AMER1 [DatabaseIdentifier:12127101] OpenTargets:ENSG00000184675 [DatabaseIdentifier:12134969] Orphanet:AMER1 [DatabaseIdentifier:12156753] PDB:4YK6 [DatabaseIdentifier:12156766] PDB:4YJL [DatabaseIdentifier:12156759] PDB:4YJE [DatabaseIdentifier:12267862] PRO:Q5JTC6 [DatabaseIdentifier:12287343] Pharos - Targets:Q5JTC6
databaseName	UniProt
dbId	228772
description	recommendedName: APC membrane recruitment protein 1 shortName: Amer1 alternativeName: Protein FAM123B alternativeName: Wilms tumor gene on the X chromosome protein
displayName	UniProt:Q5JTC6 AMER1
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:9926675] Weiser, Joel, 2024-11-03
moleculeType	Protein
name	AMER1
otherIdentifier	11734467_at 11755798_a_at 139285 1552882_PM_a_at 1552882_a_at 17111641 4010607 4010608 4010609 4010610 4010611 4010612 4010613 4010614 4010615 4010616 4010617 4010618 4010619 4010620 4010639 4010641 4010643 4010645 8173232 A_33_P3227329 GE812308 GO:0001822 GO:0005515 GO:0005546 GO:0005634 GO:0005737 GO:0005829 GO:0005886 GO:0008013 GO:0008289 GO:0016020 GO:0016055 GO:0016604 GO:0030154 GO:0031398 GO:0045732 GO:0048856 GO:0060348 GO:0060612 GO:0060828 GO:0072161 GO:0090090 GO:0090263 GO:1904713 HMNXSV003058227 Hs2.314225.1.S1_3p_s_at ILMN_1750051 PH_hs_0015944 TC0X001095.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-1504189] AMER1 [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9663939] AMER1 R353* [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-4839640] AMER1 R358* [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5251492] AMER1 S210* [cytosol] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9663943] AMER1 R497* [cytosol] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:ensembl:ENSG00000184675] ENSEMBL:ENSG00000184675 AMER1 [ReferenceDNASequence:12739716] UCSC:Q5JTC6 AMER1 [ReferenceDNASequence:11340415] BioGPS Gene:139285 AMER1 [ReferenceDNASequence:11399859] COSMIC - genes:AMER1 AMER1 [ReferenceDNASequence:11416196] CTD Gene:139285 AMER1 [ReferenceDNASequence:11436900] dbSNP Gene:139285 AMER1 [ReferenceDNASequence:11821138] HGNC:26837 AMER1 [ReferenceDNASequence:11881202] KEGG:hsa:139285 AMER1 [ReferenceDNASequence:11970204] Monarch:139285 AMER1 [ReferenceDNASequence:12054297] NCBI Gene:139285 AMER1 [ReferenceDNASequence:12112012] OMIM:300647 AMER1
referenceTranscript	[ReferenceRNASequence:12556443] RefSeq:NM_152424.4 AMER1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	AMER1_HUMAN A2IB86 Q8N885
sequenceLength	1135
species	[Species:48887] Homo sapiens
stId	uniprot:Q5JTC6
url	http://purl.uniprot.org/uniprot/Q5JTC6

Referrals

(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-1504189] AMER1 [cytosol] [EntityWithAccessionedSequence:R-HSA-9663939] AMER1 R353* [cytosol] [EntityWithAccessionedSequence:R-HSA-4839640] AMER1 R358* [cytosol] [EntityWithAccessionedSequence:R-HSA-5251492] AMER1 S210* [cytosol] [EntityWithAccessionedSequence:R-HSA-9663943] AMER1 R497* [cytosol]
(referenceSequence)	[NonsenseMutation:9663932] Nonsense mutation at L-arginine 353 [NonsenseMutation:4839732] Nonsense mutation at L-arginine 358 [NonsenseMutation:5340547] Nonsense mutation at L-serine 210 [NonsenseMutation:9663934] Nonsense mutation at L-arginine 497
(interactor)	[UndirectedInteraction:11160241] UniProt:O14965 <-> UniProt:Q5JTC6 (IntAct) [UndirectedInteraction:11161437] UniProt:Q14145 <-> UniProt:Q5JTC6 (IntAct) [UndirectedInteraction:11185011] UniProt:Q5JTC6 <-> UniProt:P25054 (IntAct) [UndirectedInteraction:11185013] UniProt:Q5JTC6 <-> UniProt:P35222 (IntAct) [UndirectedInteraction:11185015] UniProt:Q5JTC6 <-> UniProt:O15169 (IntAct) [UndirectedInteraction:11185017] UniProt:Q5JTC6 <-> UniProt:Q9UKB1 (IntAct) [UndirectedInteraction:11185019] UniProt:Q5JTC6 <-> UniProt:Q9Y297 (IntAct) [UndirectedInteraction:11185023] UniProt:Q5JTC6 <-> UniProt:Q8N944 (IntAct) [UndirectedInteraction:11185025] UniProt:Q5JTC6 <-> UniProt:Q8N878 (IntAct) [UndirectedInteraction:11185029] UniProt:Q5JTC6 <-> UniProt:Q8N831 (IntAct) [UndirectedInteraction:11185031] UniProt:Q5JTC6 <-> UniProt:Q9UI47 (IntAct) [UndirectedInteraction:11185033] UniProt:Q5JTC6 <-> UniProt:Q9H9D4 (IntAct) [UndirectedInteraction:11185037] UniProt:Q5JTC6 <-> UniProt:Q8N4T0 (IntAct) [UndirectedInteraction:11185039] UniProt:Q5JTC6 <-> UniProt:Q8WTR8 (IntAct) [UndirectedInteraction:11185043] UniProt:Q5JTC6 <-> UniProt:O00295 (IntAct)

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