Property Summary

NCBI Gene PubMed Count 41
PubMed Score 456.01
PubTator Score 68.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.349 7.6e-05
group 3 medulloblastoma 1.100 2.8e-03
Breast cancer 1.100 3.4e-05

Protein-protein Interaction (5)

Gene RIF (32)

PMID Text
26071483 Losses of AMER1 by other mechanisms apart from mutations.
24459086 A nonsense mutation (c.1045C>T, p.Glu349*) in the WTX gene.
24265322 Data show that beta-arrestins regulate Wnt3a-induced low density lipoprotein receptor-related protein 6 (Lrp6) phosphorylation by the regulation of the membrane dynamics of Amer1.
24249259 WTX inactivation occurs in a wider variety of tumor types than previously appreciated and point to shared pathogenic mechanisms between a subset of pediatric malignancies.
23333300 Stat3 inhibits WTX expression through up-regulation of micro RNA-370 in Wilms tumor.
22800892 WTX mutations occur early in Wilms' tumor development, but at a low proportion. There was no evidence that WTX is the main cause of Wilms' tumor.
22716240 Osteopathia striata with cranial sclerosis or Horan-Beighton syndrome is a rare X-linked dominant inherited bone dysplasia. Genetic analysis allowed the identification of maternally transmitted heterozygous nonsense c.1057C>T (p.R353X) WTX mutation.
22670894 Data indicate that osteopathia striata congenita with cranial sclerosis (OSCS) iscaused by germline deletions of in the X-linked gene WTX (FAM123B, AMER1).
22285752 WTX modulates p53 function, in part through regulation of its activator CBP/p300.
22215675 WTX and NRF2 compete for binding to KEAP1, and thus loss of WTX leads to rapid ubiquitination and degradation of NRF2 and a reduced response to cytotoxic insult.
21498506 Amer1 exerts its negative regulatory role in Wnt signaling by acting as a scaffold protein for the beta-catenin destruction complex and promoting stabilization of Axin at the plasma membrane.
20956941 When gene expression changes mediated by wild-type WTX were compared with those affected by mutant WTX, WTX565 had a 55% overlap in differentially regulated genes, whereas WTX358 regulated only two genes affected by wild-type WTX.
20950377 Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
20696052 Mutations in the WTX-gene are associated with high-grade microsatellite instable colorectal cancers.
20679664 WTX mutations can arise both early and late in Wilms tumour development
20209645 All investigated families diagnosed with Osteopathia striata with cranial sclerosis had WTX gene defects.
19760609 WTX inactivation is associated with Wilms tumors
19757195 inactivation of WTX appears to be a late event in tumorigenesis of nephroblastoma in a subgroup of nephroblastomas
19416806 WTX binds WT1 and enhances WT1-mediated transcription, suggesting a role for WTX in nuclear pathways implicated in the transcriptional regulation of cellular differentiation programs
19351817 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19137020 Mutations in WTX gene is associated with Wilms tumor.
19079258 The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis.
18720004 Data indicate that WTX mutation is rare in colorectal, gastric, and hepatocellular carcinomas.
18460646 WTX is rarely mutated in acute myeloid leukemia
18452086 there was not any evidence of WTX mutation in the 143 acute leukemia patients
18391980 Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors.
18311776 WT1 and WTX mutations occur with similar frequency, that they partially overlap in Wilms tumors, and that mutations in WT1, WTX, and CTNNB1 underlie the genetic basis of about one-third of Wilms tumors
18021721 Gene has a tumor suppressor function in Wilms tumors, and is involved in beta-catenin destruction.
17925383 These data indicate that AMER1 controls the subcellular distribution of APC between membrane- and microtubule-associated pools, and might thereby regulate APC-dependent cellular morphogenesis, cell migration and cell-cell adhesion.
17620295 Deletion of the WTX gene is associated with Wilms' tumor with a balanced translocation t(X;18)
17510365 findings show that WTX, a protein encoded by a gene mutated in Wilms tumors, forms a complex with beta-catenin, AXIN1, beta-TrCP2 and APC; data provide a possible mechanistic explanation for the tumor suppressor activity of WTX
17204608 WTX, is inactivated in approximately one-third of Wilms tumors; it is inactivated by a monoallelic "single-hit" event targeting the single X chromosome in tumors from males and the active X chromosome in tumors from females

AA Sequence

METQKDEAAQAKGAAASGSTREQTAEKGAKNKAAEATEGPTSEPSSSGPGRLKKTAMKLFGGKKGICTLP      1 - 70
SFFGGGRSKGSGKGSSKKGLSKSKTHDGLSEAAHGPEDVVSEGTGFSLPLPELPCQFPSSQSAHGALETG     71 - 140
SRCKTSVAGATEKAVAEKFPSMPKPKKGLKGFFSSIRRHRKSKVTGAEQSEPGAKGPERVRARPHEHVSS    141 - 210
APQVPCFEETFQAPRKENANPQDAPGPKVSPTPEPSPPATEKMACKDPEKPMEACASAHVQPKPAPEASS    211 - 280
LEEPHSPETGEKVVAGEVNPPNGPVGDPLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQR    281 - 350
ANRDGTKRSSCLVTYQGGGEEMALPDDDDEEEEEEEEVELEEEEEEVKEEEEDDDLEYLWETAQMYPRPN    351 - 420
MNLGYHPTTSPGHHGYMLLDPVRSYPGLAPGELLTPQSDQQESAPNSDEGYYDSTTPGFEDDSGEALGLV    421 - 490
RRDCLPRDSYSGDALYEFYEPDDSLENSPPGDDCLYDLHGRSSEMFDPFLNFEPFLSSRPPGAMETEEER    491 - 560
LVTIQKQLLYWELRREQLEAQEARAREAHAREAHAREAYTREAYGREAYAREAHTWEAHGREARTREAQA    561 - 630
REVRCRETQVRETQARQEKPVLEYQMRPLGPSVMGLAAGVSGTSQISHRGITSAFPTTASSEPDWRDFRP    631 - 700
LEKRYEGTCSKKDQSTCLMQLFQSDAMFEPDMQEANFGGSPRRAYPTYSPPEDPEEEEVEKEGNATVSFS    701 - 770
QALVEFTSNGNLFSSMSCSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEENPEFHNDEDLAASLEA    771 - 840
FELGYYHKHAFNNYHSRFYQGLPWGVSSLPRYLGLPGLHPRPPPAAMALNRRSRSLDTAETLEMELSNSH    841 - 910
LVQGYLESDELQAQQEDSDEEDEEEEEGEWSRDSPLSLYTEPPGAYDWPAWAPCPLPVGPGPAWISPNQL    911 - 980
DRPSSQSPYRQATCCIPPMTMSISLSVPESRAPGESGPQLARPSHLHLPMGPCYNLQPQASQSMRARPRD    981 - 1050
VLLPVDEPSCSSSSGGFSPSPLPQAKPVGITHGIPQLPRVRPEHPQPQPTHYGPSSLDLSKERAEQGASL   1051 - 1120
ATSYSSTAMNGNLAK                                                          1121 - 1135
//

Text Mined References (47)

PMID Year Title
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26071483 2015 Exome Sequencing Reveals AMER1 as a Frequently Mutated Gene in Colorectal Cancer.
24459086 2014 A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24265322 2014 ?-arrestin promotes Wnt-induced low density lipoprotein receptor-related protein 6 (Lrp6) phosphorylation via increased membrane recruitment of Amer1 protein.
24251807 2014 Adenomatous polyposis coli (APC) membrane recruitment 3, a member of the APC membrane recruitment family of APC-binding proteins, is a positive regulator of Wnt-?-catenin signalling.
24249259 2014 Inactivation of the tumor suppressor WTX in a subset of pediatric tumors.
23333300 2013 Stat3 inhibits WTX expression through up-regulation of microRNA-370 in Wilms tumor.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23092983 2012 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22800892 2012 Identification and analysis of mutations in WTX and WT1 genes in peripheral blood and tumor tissue of children with Wilms' tumor.
22716240 2012 WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and radiological features.
22682247 2012 Wnt signaling through inhibition of ?-catenin degradation in an intact Axin1 complex.
22670894 2013 Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.
22285752 2012 The WTX tumor suppressor enhances p53 acetylation by CBP/p300.
22215675 2012 Wilms tumor gene on X chromosome (WTX) inhibits degradation of NRF2 protein through competitive binding to KEAP1 protein.
21498506 2011 Structural and functional characterization of the Wnt inhibitor APC membrane recruitment 1 (Amer1).
21304492 2011 Amer1/WTX couples Wnt-induced formation of PtdIns(4,5)P2 to LRP6 phosphorylation.
20956941 2011 Functional characterization of Wilms tumor-suppressor WTX and tumor-associated mutants.
20950377 2011 Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.
20843316 2010 The WTX/AMER1 gene family: evolution, signature and function.
20696052 2010 Mutations in the WTX-gene are found in some high-grade microsatellite instable (MSI-H) colorectal cancers.
20679664 2010 WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.
20209645 2010 Osteopathia striata with cranial sclerosis owing to WTX gene defect.
19760609 2009 WTX inactivation is a frequent, but late event in Wilms tumors without apparent clinical impact.
19757195 2010 Is predisposition for nephroblastoma linked to polymorphisms of the WTX gene?
19416806 2009 The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19351817 2009 Genetic mutations associated with cigarette smoking in pancreatic cancer.
19137020 2009 Canonical WNT signalling determines lineage specificity in Wilms tumour.
19079258 2009 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
18720004 2009 Mutational analysis of WTX gene in Wnt/ beta-catenin pathway in gastric, colorectal, and hepatocellular carcinomas.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18460646 2008 WTX is rarely mutated in acute myeloid leukemia.
18452086 2008 Tumor suppressor WTX gene mutation is rare in acute leukemias.
18391980 2008 Functional inactivation of the WTX gene is not a frequent event in Wilms' tumors.
18311776 2008 Wilms tumor genetics: mutations in WT1, WTX, and CTNNB1 account for only about one-third of tumors.
18021721 2007 [The tumor suppressor gene WTX, mutated in Wilms tumours, is a member of the beta-catenin destruction complex].
17925383 2007 AMER1 regulates the distribution of the tumor suppressor APC between microtubules and the plasma membrane.
17620295 2007 Wilms' tumor with an apparently balanced translocation t(X;18) resulting in deletion of the WTX gene.
17510365 2007 Wilms tumor suppressor WTX negatively regulates WNT/beta-catenin signaling.
17204608 2007 An X chromosome gene, WTX, is commonly inactivated in Wilms tumor.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
11807859 2002 Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.