{ "uniprot_canonical_ac": "Q7TS75-1", "uniprot_ac": "Q7TS75", "uniprot_id": "AMER1_MOUSE", "mass": { "chemical_mass": 124164.0, "monoisotopic_mass": 124164.0 }, "refseq": { "ac": "NP_780388", "name": "APC membrane recruitment protein 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388" }, "gene_names": [ { "name": "Amer1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q7TS75", "id": "Q7TS75" }, { "name": "2810002O09Rik; Fam123b; Wtx", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388", "id": "NP_780388" }, { "name": "Amer1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388", "id": "NP_780388" }, { "name": "Fam123b", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q7TS75", "id": "Q7TS75" } ], "protein_names": [ { "name": "APC membrane recruitment protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q7TS75" }, { "name": "APC membrane recruitment protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388", "id": "NP_780388" }, { "name": "Amer1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q7TS75" }, { "name": "Protein FAM123B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q7TS75" }, { "name": "protein Fam123b; family with sequence similarity 123, member B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388", "id": "NP_780388" } ], "function": [ { "annotation": "Analysis provides a novel model for WTX-caused bone diseases and explains on the molecular level how truncation mutations in this gene may retain some of WTX-protein functions.", "evidence": [ { "database": "RefSeq", "id": "NP_780388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388" }, { "database": "PubMed", "id": "29329488", "url": "https://glygen.org/publication/PubMed/29329488" } ] }, { "annotation": "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 (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75#function" } ] }, { "annotation": "The constellation of anomalies in Wtx null mice suggests that this tumor suppressor broadly regulates mesenchymal progenitor cells in multiple tissues. Erratum:[Dev Cell. 2012 May 15;22(5):1109-17]", "evidence": [ { "database": "RefSeq", "id": "NP_780388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388" }, { "database": "PubMed", "id": "21571217", "url": "https://glygen.org/publication/PubMed/21571217" } ] }, { "annotation": "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.", "evidence": [ { "database": "RefSeq", "id": "NP_780388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388" }, { "database": "PubMed", "id": "19079258", "url": "https://glygen.org/publication/PubMed/19079258" } ] }, { "annotation": "WTX stabilized chromatin binding by TRIM28 and contributed to transcriptional repression of repetitive sequences by TRIM28 in mouse embryonic stem cells.", "evidence": [ { "database": "RefSeq", "id": "NP_780388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388" }, { "database": "PubMed", "id": "25882849", "url": "https://glygen.org/publication/PubMed/25882849" } ] } ], "disease": [ { "disease_id": "DOID:0060886", "recommended_name": { "id": "DOID:0060886", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060886", "name": "osteopathia striata with cranial sclerosis", "description": "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11." }, "synonyms": [ { "id": "DOID:0060886", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060886", "name": "Robinow-Unger syndrome", "description": "" }, { "id": "DOID:0060886", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060886", "name": "hyperostosis generalisata with striations", "description": "" }, { "id": "MONDO:0010310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010310", "name": "osteopathia striata with cranial sclerosis", "description": "Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss." }, { "id": "MONDO:0010310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010310", "name": "Osteopathia striata with cranial sclerosis, X-linked dominant", "description": "" }, { "id": "MONDO:0010310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010310", "name": "Robinow-Unger syndrome", "description": "" }, { "id": "MONDO:0010310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010310", "name": "hyperostosis generalisata with striations", "description": "" }, { "id": "MONDO:0010310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010310", "name": "osteopathia striata with cranial sclerosis", "description": "" }, { "id": "MONDO:0010310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010310", "name": "OSCS", "description": "" }, { "id": "MONDO:0010310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010310", "name": "osteopathia striata - cranial sclerosis", "description": "" }, { "id": "MONDO:0010310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010310", "name": "osteopathia striata cranial sclerosis", "description": "" }, { "id": "MONDO:0010310", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010310", "name": "osteopathia striata-cranial sclerosis syndrome", "description": "" }, { "id": "MIM:300373", "resource": "MIM", "url": "https://www.omim.org/entry/300373", "name": "Osteopathia striata with cranial sclerosis", "description": "Osteopathia striata with cranial sclerosis" } ], "evidence": [ { "id": "0060886", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060886" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ], "evidence": [ { "id": "9256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Amer1", "url": "https://www.uniprot.org/uniprot/Q7TS75", "locus": { "chromosome": "X", "start_pos": 94463924, "end_pos": 94488478, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000050332", "url": "https://www.ensembl.org/id/ENSMUSG00000050332" } ] } } ], "crossref": [ { "id": "ENSMUSG00000050332", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000050332", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "72345", "url": "https://www.ncbi.nlm.nih.gov/gene/72345", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR019003", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019003", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:72345", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:72345", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "1919595", "url": "http://www.informatics.jax.org/marker/MGI:1919595", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "KPMEACA", "url": "https://omabrowser.org/oma/group/KPMEACA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4315059at2759", "url": "http://www.orthodb.org/?query=4315059at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22237", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22237", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22237:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22237:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF09422", "url": "http://pfam.xfam.org/family/PF09422", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q7TS75", "url": "http://purl.obolibrary.org/obo/PR_Q7TS75", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-MMU-195253", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-195253", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-196299", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-196299", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-MMU-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-4641262", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_780388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TS75-1", "url": "https://www.uniprot.org/uniprot/Q7TS75-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MESQQDEAVQTKGASTSSDAQDQGAEKGAKNKTTEATEGPTSEPPLSGPGRLKKTAMKLFGGKKGICTLPSFFGGGRSKGSGKVSSKKSLNKSKTHDGLSEASQGPEDVVIEETDLSTPLSKSSAQFPSSQSANGALEIGSKHKTSGTEAIEKAGVEKVPSVHKPKKSLKSFFSSIRRHRKGKTSGADQSVPGAKELEGARTRSHEHVSSISLPSSEEIFRDTRKENAKPQDAPGPKMSPAQVHFSPTTEKAACKNPEKLTRTCASEFMQPKPVLEGGSLEEPHTSETEGKVVAGEVNPPNGPVGDQLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQRANRDGTKRSSCLVTYQGGGEEMALPDDDDNDDEEEEEEEEEEEEEEEEEEEEEEEEEEEELLEDEEEVKDGEENDDLEYLWASAQIYPRFNMNLGYHTAISPSHQGYMLLDPVQSYPNLGLGELLTPQSDQQESAPNSDEGYYDSTTPGFEDDSGEALGLAHRDCLPRDSYSGDALYEFYEPDDSLEHSPPGDDCLYDLRGRNSEMLDPFLNLEPFSSRPPGAMETEEERLVTIQKQLLYWELRREQREAQEACAREAHAREAYARDTHTRESYGRNVRARETQALEAHSQEGRVQETKVRQEKPALEYQMRPLGPSVMGLVAGTSGGSQTSHRGTTSAFPATSSSEPDWRDFRPLEKRFEGTCSKKDQSTCLMQLFQSDAMFEPDMQEANFGGSPRKAYPSYSPPEEPEEEEEEKEGNATVSFSQALVEFTSNGNLFTSMSYSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEENPEFNNDEDLTASLEAFELGYYHKHAFNSYHSRFYQGLPWGVSSLPRYLGLPGVHPRPPPAAMALNRRSRSLDNAESLELELSSSHLAQGYMESDELQAHQEDSDEEGEEEEGEWGRDSPLSLYTEPPGVYDWPPWAHCPLPVGPGLAWMSPNQLYEPFNQSSYVQATCCVPPVAMPVSVPGRTPGDSVSQLARPSHLPLPMGPCYNLQSQASQSGRAKPRDVLLPVDEPSCSSISGANSQSQAKPVGITHGIPQLPRVRPEPFQLQPNHYRASNLDLSKERGEQGASLSTSYSSTAMNGNLAK", "length": 1132, "header": "sp|Q7TS75-1|AMER1_MOUSE Isoform 1 of APC membrane recruitment protein 1 OS=Mus musculus OX=10090 GN=Amer1 PE=2 SV=3 CANONICAL=Q7TS75-1" }, "isoforms": [ { "isoform_ac": "Q7TS75-1", "url": "", "sequence": { "sequence": "MESQQDEAVQTKGASTSSDAQDQGAEKGAKNKTTEATEGPTSEPPLSGPGRLKKTAMKLFGGKKGICTLPSFFGGGRSKGSGKVSSKKSLNKSKTHDGLSEASQGPEDVVIEETDLSTPLSKSSAQFPSSQSANGALEIGSKHKTSGTEAIEKAGVEKVPSVHKPKKSLKSFFSSIRRHRKGKTSGADQSVPGAKELEGARTRSHEHVSSISLPSSEEIFRDTRKENAKPQDAPGPKMSPAQVHFSPTTEKAACKNPEKLTRTCASEFMQPKPVLEGGSLEEPHTSETEGKVVAGEVNPPNGPVGDQLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQRANRDGTKRSSCLVTYQGGGEEMALPDDDDNDDEEEEEEEEEEEEEEEEEEEEEEEEEEEELLEDEEEVKDGEENDDLEYLWASAQIYPRFNMNLGYHTAISPSHQGYMLLDPVQSYPNLGLGELLTPQSDQQESAPNSDEGYYDSTTPGFEDDSGEALGLAHRDCLPRDSYSGDALYEFYEPDDSLEHSPPGDDCLYDLRGRNSEMLDPFLNLEPFSSRPPGAMETEEERLVTIQKQLLYWELRREQREAQEACAREAHAREAYARDTHTRESYGRNVRARETQALEAHSQEGRVQETKVRQEKPALEYQMRPLGPSVMGLVAGTSGGSQTSHRGTTSAFPATSSSEPDWRDFRPLEKRFEGTCSKKDQSTCLMQLFQSDAMFEPDMQEANFGGSPRKAYPSYSPPEEPEEEEEEKEGNATVSFSQALVEFTSNGNLFTSMSYSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEENPEFNNDEDLTASLEAFELGYYHKHAFNSYHSRFYQGLPWGVSSLPRYLGLPGVHPRPPPAAMALNRRSRSLDNAESLELELSSSHLAQGYMESDELQAHQEDSDEEGEEEEGEWGRDSPLSLYTEPPGVYDWPPWAHCPLPVGPGLAWMSPNQLYEPFNQSSYVQATCCVPPVAMPVSVPGRTPGDSVSQLARPSHLPLPMGPCYNLQSQASQSGRAKPRDVLLPVDEPSCSSISGANSQSQAKPVGITHGIPQLPRVRPEPFQLQPNHYRASNLDLSKERGEQGASLSTSYSSTAMNGNLAK", "length": 1132, "header": "sp|Q7TS75-1|AMER1_MOUSE Isoform 1 of APC membrane recruitment protein 1 OS=Mus musculus OX=10090 GN=Amer1 PE=2 SV=3 CANONICAL=Q7TS75-1" }, "locus": { "chromosome": "X", "start_pos": 94472116, "end_pos": 94468721, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000084535", "url": "https://www.ensembl.org/id/ENSMUST00000084535" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000109502", "url": "https://www.ensembl.org/id/ENSMUSP00000109502" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "An X chromosome gene, WTX, is commonly inactivated in Wilms tumor.", "journal": "Science", "date": "2007", "authors": "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", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "reference": [ { "type": "PubMed", "id": "17204608", "url": "https://glygen.org/publication/PubMed/17204608" } ] }, { "title": "Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.", "journal": "Nature genetics", "date": "2009", "authors": "Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Minaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Ades LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP", "evidence": [ { "database": "RefSeq", "id": "NP_780388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388" } ], "reference": [ { "type": "PubMed", "id": "19079258", "url": "https://glygen.org/publication/PubMed/19079258" } ] }, { "title": "The WTX tumor suppressor regulates mesenchymal progenitor cell fate specification.", "journal": "Developmental cell", "date": "2011", "authors": "Moisan A, Rivera MN, Lotinun S, Akhavanfard S, Coffman EJ, Cook EB, Stoykova S, Mukherjee S, Schoonmaker JA, Burger A, Kim WJ, Kronenberg HM, Baron R, Haber DA, Bardeesy N", "evidence": [ { "database": "RefSeq", "id": "NP_780388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388" } ], "reference": [ { "type": "PubMed", "id": "21571217", "url": "https://glygen.org/publication/PubMed/21571217" } ] }, { "title": "The WTX Tumor Suppressor Interacts with the Transcriptional Corepressor TRIM28.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Kim WJ, Wittner BS, Amzallag A, Brannigan BW, Ting DT, Ramaswamy S, Maheswaran S, Haber DA", "evidence": [ { "database": "RefSeq", "id": "NP_780388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388" } ], "reference": [ { "type": "PubMed", "id": "25882849", "url": "https://glygen.org/publication/PubMed/25882849" } ] }, { "title": "Genetic and Molecular Insights Into Genotype-Phenotype Relationships in Osteopathia Striata With Cranial Sclerosis (OSCS) Through the Analysis of Novel Mouse Wtx Mutant Alleles.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2018", "authors": "Comai G, Boutet A, Tanneberger K, Massa F, Rocha AS, Charlet A, Panzolini C, Jian Motamedi F, Brommage R, Hans W, Funck-Brentano T, Hrabe de Angelis M, Hartmann C, Cohen-Solal M, Behrens J, Schedl A", "evidence": [ { "database": "RefSeq", "id": "NP_780388", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780388" } ], "reference": [ { "type": "PubMed", "id": "29329488", "url": "https://glygen.org/publication/PubMed/29329488" } ] } ], "pathway": [ { "id": "mmu:72345", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:72345", "resource": "KEGG Pathway" }, { "id": "R-MMU-195253", "name": "Degradation of beta-catenin by the destruction complex", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-195253", "resource": "Reactome", "description": "Degradation of beta-catenin by the destruction complex" }, { "id": "R-MMU-196299", "name": "Beta-catenin phosphorylation cascade", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-196299", "resource": "Reactome", "description": "Beta-catenin phosphorylation cascade" }, { "id": "R-MMU-4641262", "name": "Disassembly of the destruction complex and recruitment of AXIN to the membrane", "url": "https://www.reactome.org/PathwayBrowser/#R-MMU-4641262", "resource": "Reactome", "description": "Disassembly of the destruction complex and recruitment of AXIN to the membrane" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZCP6-1", "protein_name": "APC membrane recruitment 1", "gene_name": "Amer1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MEIQQDETVQIKRTSTSSDAQDQGAEKGAKNKTAETTEGSTSEPPLSGPGRLKKTALKLFGGKKGICTLPSFFGGGRSKGSGKGSSKKGLNKSKTHDGLSESSHGPEDVVVEETELSTPLSKSPSQFPSSQSAHGALEIGSRHKTSVTEAVEKAGVEKVPSVHKPKKGLKGFLNSIRRHRKSKVSGADQSGLGAKELEGTRTMSQEHVSSISLPSSEEIFRDAIKENTKPQDAPGPKMSPAREHFSLTTEKTACKNPEKLTMTCASEFMQPKPILEASSLEEPHTSETEGKVVTGDANPPNGPVGDQLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQRANRDGTKRSSCLVTYQGGGEEMALPDDDDNEEEEEEDEEVELEDEEEEVKDGEEDDDLEYLWASAQIYPRFNMNLGYHTAISPSHQGYMLLDPVQSYPNLGLGELLTPQSDQQESAPNSDEGYYDSTTPGFEDDSGEALGLVHRDCLPRDSYSGDALYEFYEPDDSLEHSPPGDDCLYDLRGRNSEMLDPFLNLEPFSSRPPGAMETEEERLVTIQKQLLYWELRREQREAQEACAREAHAREAYSRDTHTRESYGKNTRARETQALEVHSQEGRVQETKVRQEKPALEYQMRPLGPSVMGLVPGTPGGSQTSHRGTTSAFPATSSSEPDWRDFRPLEKRFEGTCSKKDQSTCLMQLFQSDAMFEPDMQEANFGGSPRKAYPSYSPPEEPEEEEDENEGNATVSFSQALVEFTSNGNLFTSMSYSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEENPEFNNDEDLTASLEAFELGYYHKHAFNSYHSRFYQGLPWGVSSLPRYLGLPGVHPRPPPAAMALNRRSRSLDNAETLELELSSSHLAQGYVESDELQDHQEDSDEEGEEEEGEWGRDSPLSLYTEPPGVYDWPPWAHCPVPVGPGLAWLSPNQLDEPFNQSSYVQATCCVPPVAMSVPGRAPGDSVSQPARPSHLPLPMGPCYNLQSQASQSGRARPRDVLLPVDEPSCSSISGANSLSQAKPVGITHGIPQLPRVRPEPLQLQPNHYRASNLDLSKERGEQGASLSTSYSSTAMNGNLAK", "length": 1111 }, "evidence": [ { "id": "45229101", "url": "http://www.informatics.jax.org/homology/45229101", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q5JTC6-1", "protein_name": "APC membrane recruitment protein 1", "gene_name": "AMER1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "METQKDEAAQAKGAAASGSTREQTAEKGAKNKAAEATEGPTSEPSSSGPGRLKKTAMKLFGGKKGICTLPSFFGGGRSKGSGKGSSKKGLSKSKTHDGLSEAAHGPEDVVSEGTGFSLPLPELPCQFPSSQSAHGALETGSRCKTSVAGATEKAVAEKFPSMPKPKKGLKGFFSSIRRHRKSKVTGAEQSEPGAKGPERVRARPHEHVSSAPQVPCFEETFQAPRKENANPQDAPGPKVSPTPEPSPPATEKMACKDPEKPMEACASAHVQPKPAPEASSLEEPHSPETGEKVVAGEVNPPNGPVGDPLSLLFGDVTSLKSFDSLTGCGDIIAEQDMDSMTDSMASGGQRANRDGTKRSSCLVTYQGGGEEMALPDDDDEEEEEEEEVELEEEEEEVKEEEEDDDLEYLWETAQMYPRPNMNLGYHPTTSPGHHGYMLLDPVRSYPGLAPGELLTPQSDQQESAPNSDEGYYDSTTPGFEDDSGEALGLVRRDCLPRDSYSGDALYEFYEPDDSLENSPPGDDCLYDLHGRSSEMFDPFLNFEPFLSSRPPGAMETEEERLVTIQKQLLYWELRREQLEAQEARAREAHAREAHAREAYTREAYGREAYAREAHTWEAHGREARTREAQAREVRCRETQVRETQARQEKPVLEYQMRPLGPSVMGLAAGVSGTSQISHRGITSAFPTTASSEPDWRDFRPLEKRYEGTCSKKDQSTCLMQLFQSDAMFEPDMQEANFGGSPRRAYPTYSPPEDPEEEEVEKEGNATVSFSQALVEFTSNGNLFSSMSCSSDSDSSFTQNLPELPPMVTFDIADVERDGEGKCEENPEFHNDEDLAASLEAFELGYYHKHAFNNYHSRFYQGLPWGVSSLPRYLGLPGLHPRPPPAAMALNRRSRSLDTAETLEMELSNSHLVQGYLESDELQAQQEDSDEEDEEEEEGEWSRDSPLSLYTEPPGAYDWPAWAPCPLPVGPGPAWISPNQLDRPSSQSPYRQATCCIPPMTMSISLSVPESRAPGESGPQLARPSHLHLPMGPCYNLQPQASQSMRARPRDVLLPVDEPSCSSSSGGFSPSPLPQAKPVGITHGIPQLPRVRPEHPQPQPTHYGPSSLDLSKERAEQGASLATSYSSTAMNGNLAK", "length": 1135 }, "evidence": [ { "id": "45229101", "url": "http://www.informatics.jax.org/homology/45229101", "database": "MGI" }, { "id": "Q7TS75", "url": "https://omabrowser.org/oma/group/Q7TS75/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "phosphatidylinositol-4,5-bisphosphate binding", "id": "GO:0005546", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005546", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "beta-catenin binding", "id": "GO:0008013", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008013", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "beta-catenin destruction complex binding", "id": "GO:1904713", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904713", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "nuclear body", "id": "GO:0016604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016604", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "adipose tissue development", "id": "GO:0060612", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060612", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "negative regulation of canonical Wnt signaling pathway", "id": "GO:0090090", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090090", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "kidney development", "id": "GO:0001822", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001822", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "positive regulation of protein ubiquitination", "id": "GO:0031398", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031398", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "positive regulation of protein catabolic process", "id": "GO:0045732", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045732", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "bone development", "id": "GO:0060348", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060348", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "regulation of canonical Wnt signaling pathway", "id": "GO:0060828", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060828", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "mesenchymal cell differentiation involved in kidney development", "id": "GO:0072161", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072161", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" }, { "name": "positive regulation of canonical Wnt signaling pathway", "id": "GO:0090263", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090263", "evidence": [ { "database": "UniProtKB", "id": "Q7TS75", "url": "https://www.uniprot.org/uniprot/Q7TS75" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 31, "end_pos": 33, "annotation": "n_glycosylation_sequon" }, { "start_pos": 768, "end_pos": 770, "annotation": "n_glycosylation_sequon" }, { "start_pos": 91, "end_pos": 93, "annotation": "n_glycosylation_sequon" }, { "start_pos": 988, "end_pos": 990, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 5 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }