AMER1

AMER1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4YJL, 4YK6, 4YJE
Identifiers
Aliases	AMER1 , FAM123B, OSCS, WTX, APC membrane recruitment protein 1
External IDs	OMIM: 300647; MGI: 1919595; HomoloGene: 51852; GeneCards: AMER1; OMA:AMER1 - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band Xq11.2 Start 64,185,117 bp [1] End 64,205,708 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X|X C3 Start 94,463,924 bp [2] End 94,488,478 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in muscle of thigh gastrocnemius muscle ganglionic eminence smooth muscle tissue ventricular zone left ovary right ovary skeletal muscle tissue stromal cell of endometrium right lobe of liver Top expressed in Rostral migratory stream umbilical cord internal carotid artery otic vesicle hand lacrimal gland retinal pigment epithelium otolith organ utricle abdominal wall More reference expression data BioGPS n/a
Gene ontology Molecular function phosphatidylinositol-4,5-bisphosphate binding beta-catenin binding protein binding beta-catenin destruction complex binding lipid binding Cellular component cytoplasm cytosol plasma membrane intracellular membrane-bounded organelle membrane nucleus nuclear body Biological process regulation of canonical Wnt signaling pathway adipose tissue development bone development mesenchymal cell differentiation involved in kidney development positive regulation of protein ubiquitination negative regulation of canonical Wnt signaling pathway kidney development anatomical structure development positive regulation of canonical Wnt signaling pathway beta-catenin destruction complex assembly beta-catenin destruction complex disassembly Wnt signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 139285 72345 Ensembl ENSG00000184675 ENSMUSG00000050332 UniProt Q5JTC6 Q7TS75 RefSeq (mRNA) NM_152424 NM_175179 RefSeq (protein) NP_689637 NP_780388 Location (UCSC) Chr X: 64.19 – 64.21 Mb Chr X: 94.46 – 94.49 Mb PubMed search [3] [4]
Wikidata
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APC membrane recruitment protein 1 (AMER1) also known as Wilms Tumor on the X (WTX) is a protein that in humans is encoded by the AMER1 gene.

It has been associated with Wilms tumor. ^[5]

References

1. GRCh38: Ensembl release 89: ENSG00000184675 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000050332 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Rivera MN, Kim WJ, Wells J, Driscoll DR, Brannigan BW, Han M, Kim JC, Feinberg AP, Gerald WL, Vargas SO, Chin L, Iafrate AJ, Bell DW, Haber DA (February 2007). "An X chromosome gene, WTX, is commonly inactivated in Wilms tumor". Science. 315 (5812): 642–5. Bibcode:2007Sci...315..642R. doi:10.1126/science.1137509. PMID   17204608. S2CID   38928453.