{ "uniprot_canonical_ac": "A0PJX4-1", "sequence": { "length": 238, "sequence": "MRALLALCLLLGWLRWGPAGAQQSGEYCHGWVDVQGNYHEGFQCPEDFDTLDATICCGSCALRYCCAAADARLEQGGCTNDRRELEHPGITAQPVYVPFLIVGSIFIAFIILGSVVAIYCCTCLRPKEPSQQPIRFSLRSYQTETLPMILTSTSPRAPSRQSSTATSSSSTGGSIRRFSFARAEPGCLVPSPPPPYTTSHSIHLAQPSGFLVSPQYFAYPLQQEPPLPGKSCPDFSSS" }, "uniprot_id": "SHSA3_HUMAN", "enzyme_annotation": [], "alternativenames": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJX4", "id": "A0PJX4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Protein shisa-3 homolog" }, "publication": [], "glycosylation": [], "mutation": [ { "start_pos": 6, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX4", "id": "A0PJX4", "database": "BioMuta" } ], "frequency": "0.0152", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/66 (0.0152)", "sequence_org": "A", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "E", "subjects_tested": "66", "end_pos": 6, "type": "Point mutation" }, { "start_pos": 13, "subjects_positive": "3", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX4", "id": "A0PJX4", "database": "BioMuta" } ], "frequency": "0.0118", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 3/254 (0.0118)", "sequence_org": "W", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "C", "subjects_tested": "254", "end_pos": 13, "type": "Point mutation" }, { "start_pos": 15, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX4", "id": "A0PJX4", "database": "BioMuta" } ], "frequency": "0.0106", "annotation": "Somatic mutation in Colorectal cancer (DOID:9256) with frequency of 1/94 (0.0106)", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "H", "subjects_tested": "94", "end_pos": 15, "type": "Point mutation" }, { "start_pos": 58, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX4", "id": "A0PJX4", "database": "BioMuta" } ], "frequency": "0.0200", "annotation": "Somatic mutation in Thyroid cancer (DOID:1781) with frequency of 1/50 (0.0200)", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "S", "subjects_tested": "50", "end_pos": 58, "type": "Point mutation" }, { "start_pos": 160, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A0PJX4", "id": "A0PJX4", "database": "BioMuta" } ], "frequency": "0.0152", "annotation": "Somatic mutation in Lung cancer (DOID:1324) with frequency of 1/66 (0.0152)", "sequence_org": "R", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "G", "subjects_tested": "66", "end_pos": 160, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0PJX4#A0PJX4-1", "isoform_ac": "A0PJX4-1", "locus": { "end_pos": 42398057, "start_pos": 42401448, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000319234", "id": "ENST00000319234", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000326445", "id": "ENSP00000326445", "database": "Ensembl Peptide" } ] }, "sequence": { "length": 238, "sequence": "MRALLALCLLLGWLRWGPAGAQQSGEYCHGWVDVQGNYHEGFQCPEDFDTLDATICCGSCALRYCCAAADARLEQGGCTNDRRELEHPGITAQPVYVPFLIVGSIFIAFIILGSVVAIYCCTCLRPKEPSQQPIRFSLRSYQTETLPMILTSTSPRAPSRQSSTATSSSSTGGSIRRFSFARAEPGCLVPSPPPPYTTSHSIHLAQPSGFLVSPQYFAYPLQQEPPLPGKSCPDFSSS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:152573", "resource": "KEGG Pathway", "id": "hsa:152573", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A0PJX4#function", "annotation": "Plays an essential role in the maturation of presomitic mesoderm cells by individual attenuation of both FGF and WNT signaling.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJX4#function", "id": "A0PJX4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073974.1", "annotation": "SHISA3 is a candidate gene for the identification of CLL patients who will benefit of lenalidomide treatment as single agent.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073974.1", "id": "NP_001073974.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073974.1", "annotation": "SHISA3 promoter hypermethylation might increase the risk of LSCC through regulation of gene expression and is a potential diagnostic and prognostic biomarker for laryngeal squamous cell carcinoma", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073974.1", "id": "NP_001073974.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073974.1", "annotation": "Down-regulation of SHISA3 expression was associated with colorectal cancer.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073974.1", "id": "NP_001073974.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "B5DF81-1", "protein_name": "", "sequence": { "length": 238, "sequence": "MGALLALCLLVGLLRWGPAGAQQPGEYCHGWVDAQGNYHEGFQCPEDFDTQDATICCGSCALRYCCAAADARLEQGGCTNDRGELEHPGITAQPVYVPFLIVGSIFIAFIILGSLVAIYCCTCLRPKEPSQQPIRFSLRSYQTETLPMILTSTSLRTASRQSSTATSSSSTGGSVRRFSFARAEPNCLVPSSPPPYTTGHTIHLTQPSGFLVSPQYFAYPLQQEPPLPGKSCPDFSSS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0PJX4/", "id": "A0PJX4", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/47831", "id": "47831", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q3UPR0-1", "protein_name": "Protein shisa-3 homolog", "sequence": { "length": 238, "sequence": "MGALLAFCLLVGLLRWGPAGAQQPGEYCHGWVDAQGNYHEGFQCPEDFDTQDATICCGSCALRYCCAAADARLEQGGCTNDRGELEHPGITAQPVYVPFLIVGSIFIAFIILGSLVAIYCCTCLRPKEPSQQPIRFSLRSYQTETLPMILTSTSLRAASRQSSTATSSSSTGGSVRRFSFARAEPSCLVPSSPPPYTTGHTIHLTQPSGFLVSPQYFAYPLQQEPPLPGKSCPDFSSS" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A0PJX4/", "id": "A0PJX4", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/47831", "id": "47831", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073974.1", "ac": "NP_001073974.1", "name": "protein shisa-3 homolog precursor", "summary": "This gene encodes a single-transmembrane protein which is one of nine members of a family of transmembrane adaptors that modulate both WNT and FGF signaling by blocking the maturation and transport of their receptors to the cell surface. Members of this family contain an N-terminal cysteine-rich domain with a distinct cysteine pattern, a single transmembrane domain, and a C-terminal proline-rich, low complexity region. The encoded protein acts as a tumor suppressor by accelerating beta-catenin degradation. [provided by RefSeq, Jul 2017]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJX4", "id": "A0PJX4", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJX4", "id": "A0PJX4", "database": "UniProtKB" } ], "name": "endoplasmic reticulum membrane", "id": "GO:0005789" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007275", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0PJX4", "id": "A0PJX4", "database": "UniProtKB" } ], "name": "multicellular organism development", "id": "GO:0007275" } ], "total": 1, "name": "Biological Process" } ] }, "site_annotation": [], "crossref": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:152573", "id": "hsa:152573", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=25159", "id": "25159", "database": "HGNC" }, { "url": "https://omabrowser.org/oma/group/CQGETIP/", "id": "CQGETIP", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026910", "id": "IPR026910", "database": "InterPro" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SHISA3", "id": "SHISA3", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/152573", "id": "152573", "database": "GeneID" }, { "url": "http://pfam.xfam.org/family/PF13908", "id": "PF13908", "database": "Pfam" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR31395", "id": "PTHR31395", "database": "PANTHER" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A0PJX4", "id": "PR_A0PJX4", "database": "PRO" }, { "url": "https://www.nextprot.org/entry/NX_A0PJX4", "id": "NX_A0PJX4", "database": "neXtProt" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A0PJX4*", "id": "A0PJX4", "database": "IntAct" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJX4", "id": "A0PJX4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJX4", "id": "A0PJX4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJX4", "id": "A0PJX4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJX4", "id": "A0PJX4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJX4", "id": "A0PJX4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJX4", "id": "A0PJX4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A0PJX4", "id": "A0PJX4", "database": "BioXpress" } ] } ], "uniprot_ac": "A0PJX4", "disease": [], "mass": { "monoisotopic_mass": 25832.0, "chemical_mass": 25832.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "no", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178343", "id": "ENSG00000178343", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=25159", "name": "SHISA3", "locus": { "end_pos": 42402487, "start_pos": 42397839, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000178343", "id": "ENSG00000178343", "database": "Ensembl Gene" } ] } } ] }