{ "uniprot_canonical_ac": "Q63HK5-1", "uniprot_ac": "Q63HK5", "uniprot_id": "TSH3_HUMAN", "mass": { "chemical_mass": 118566.0, "monoisotopic_mass": 118566.0 }, "refseq": { "ac": "NP_065907", "name": "teashirt homolog 3", "summary": "This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907" }, "gene_names": [ { "name": "TSHZ3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q63HK5", "id": "Q63HK5" }, { "name": "KIAA1474", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q63HK5", "id": "Q63HK5" }, { "name": "TSH3; ZNF537", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907", "id": "NP_065907" }, { "name": "TSH3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q63HK5", "id": "Q63HK5" }, { "name": "TSHZ3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907", "id": "NP_065907" }, { "name": "ZNF537", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q63HK5", "id": "Q63HK5" } ], "protein_names": [ { "name": "Teashirt homolog 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q63HK5" }, { "name": "Zinc finger protein 537", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q63HK5" }, { "name": "teashirt family zinc finger 3; zinc finger protein 537", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907", "id": "NP_065907" }, { "name": "teashirt homolog 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907", "id": "NP_065907" } ], "function": [ { "annotation": "Mutations in TSHZ2 and TSHZ3 are not a major cause of pelvi-ureteric junction obstruction, at least in Albanian and Macedonian populations. GeneRIF: Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907" }, { "database": "PubMed", "id": "19745106", "url": "https://glygen.org/publication/PubMed/19745106" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907" }, { "database": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "annotation": "That miR-338-5p has a function in promoting glioma cell invasion by targeting TSHZ3 suppression on MMP2", "evidence": [ { "database": "RefSeq", "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907" }, { "database": "PubMed", "id": "28780604", "url": "https://glygen.org/publication/PubMed/28780604" } ] }, { "annotation": "The study reveals a crucial postnatal role of TSHZ3 in the development and functioning of the corticostriatal circuitry and provides evidence that dysfunction in these circuits might be determinant for autism spectrum disorder pathogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907" }, { "database": "PubMed", "id": "31060802", "url": "https://glygen.org/publication/PubMed/31060802" } ] }, { "annotation": "This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907" } ] }, { "annotation": "Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5#function" }, { "database": "UniProtKB", "id": "Q8CGV9", "url": "https://www.uniprot.org/uniprot/Q8CGV9#function" }, { "database": "PubMed", "id": "19343227", "url": "https://glygen.org/publication/PubMed/19343227" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs765220734", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765220734" }, { "id": "rs765220734", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765220734" }, { "id": "rs765220734", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs765220734#frequency_tab" }, { "id": "rs765220734", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765220734" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1010, "end_pos": 1010, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "19", "chr_pos": "31276765", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1010", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773668132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773668132" }, { "id": "rs773668132", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773668132" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1028, "end_pos": 1028, "sequence_org": "M", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (MVT->NVT).", "chr_id": "19", "chr_pos": "31276710_31276711i", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1028", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q63HK5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q63HK5" } ], "glycoeffect": [], "start_pos": 1068, "end_pos": 1068, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "L", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "19", "chr_pos": "31276590", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "P1068", "disease": [ { "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. 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"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 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"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" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs774284900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774284900" }, { "id": "rs774284900", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774284900" }, { "id": "rs774284900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774284900" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 137, "end_pos": 137, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLN->NLS).", "chr_id": "19", "chr_pos": "31279383", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs942725502", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs942725502" }, { "id": "rs942725502", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs942725502#frequency_tab" }, { "id": "rs942725502", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs942725502" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 148, "end_pos": 148, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNG->NNS).", "chr_id": "19", "chr_pos": "31279351", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q63HK5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q63HK5" } ], "glycoeffect": [ "n-glyco-sequon-gain", "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 149, "end_pos": 149, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "19", "chr_pos": "31279347", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "S149", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", 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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. 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"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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5" } ], "common_name": "Human" } ], "gene": [ { "name": "TSHZ3", "url": "https://www.uniprot.org/uniprot/Q63HK5", "locus": { "chromosome": "19", "start_pos": 31149979, "end_pos": 31349436, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000121297", "url": "https://www.ensembl.org/id/ENSG00000121297" } ] } } ], "crossref": [ { "id": "ENSG00000121297", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121297", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q63HK5", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q63HK5", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00086", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00086", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "TSHZ3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TSHZ3", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "57616", "url": "https://www.ncbi.nlm.nih.gov/gene/57616", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "30700", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30700", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q63HK5", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q63HK5*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001356", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001356", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013087", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013087", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027008", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027008", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:57616", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:57616", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "614119", "url": "http://www.omim.org/entry/614119", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q63HK5", "url": "https://www.nextprot.org/entry/NX_Q63HK5", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q63HK5", "url": "https://oglcnac.org/atlas/detail/Q63HK5", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q63HK5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q63HK5", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "KELVKPM", "url": "https://omabrowser.org/oma/group/KELVKPM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5407068at2759", "url": "http://www.orthodb.org/?query=5407068at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12487", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12487", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12487:SF5", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12487:SF5", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2DMI", "url": "https://www.rcsb.org/structure/2DMI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF13912", "url": "http://pfam.xfam.org/family/PF13912", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q63HK5", "url": "https://pharos.nih.gov/targets/Q63HK5", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q63HK5", "url": "http://purl.obolibrary.org/obo/PR_Q63HK5", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q63HK5-1", "url": "https://www.uniprot.org/uniprot/Q63HK5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQ78", "url": "https://www.uniprot.org/uniprot/U3KQ78", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "U3KQ78-1", "url": "https://www.uniprot.org/uniprot/U3KQ78-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPRRKQQAPRRAAAYVSEELKAAALVDEGLDPEEHTADGEPSAKYMCPEKELARACPSYQNSPAAEFSCHEMDSESHISETSDRMADFESGSIKNEEETKEVTVPLEDTTVSDSLEQMKAVYNNFLSNSYWSNLNLNLHQPSSEKNNGSSSSSSSSSSSCGSGSFDWHQSAMAKTLQQVSQSRMLPEPSLFSTVQLYRQSSKLYGSIFTGASKFRCKDCSAAYDTLVELTVHMNETGHYRDDNHETDNNNPKRWSKPRKRSLLEMEGKEDAQKVLKCMYCGHSFESLQDLSVHMIKTKHYQKVPLKEPVTPVAAKIIPATRKKASLELELPSSPDSTGGTPKATISDTNDALQKNSNPYITPNNRYGHQNGASYAWHFEARKSQILKCMECGSSHDTLQELTAHMMVTGHFIKVTNSAMKKGKPIVETPVTPTITTLLDEKVQSVPLAATTFTSPSNTPASISPKLNVEVKKEVDKEKAVTDEKPKQKDKPGEEEEKCDISSKYHYLTENDLEESPKGGLDILKSLENTVTSAINKAQNGTPSWGGYPSIHAAYQLPNMMKLSLGSSGKSTPLKPMFGNSEIVSPTKNQTLVSPPSSQTSPMPKTNFHAMEELVKKVTEKVAKVEEKMKEPDGKLSPPKRATPSPCSSEVGEPIKMEASSDGGFRSQENSPSPPRDGCKDGSPLAEPVENGKELVKPLASSLSGSTAIITDHPPEQPFVNPLSALQSVMNIHLGKAAKPSLPALDPMSMLFKMSNSLAEKAAVATPPPLQSKKADHLDRYFYHVNNDQPIDLTKGKSDKGCSLGSVLLSPTSTAPATSSSTVTTAKTSAVVSFMSNSPLRENALSDISDMLKNLTESHTSKSSTPSSISEKSDIDGATLEEAEESTPAQKRKGRQSNWNPQHLLILQAQFAASLRQTSEGKYIMSDLSPQERMHISRFTGLSMTTISHWLANVKYQLRRTGGTKFLKNLDTGHPVFFCNDCASQIRTPSTYISHLESHLGFRLRDLSKLSTEQINSQIAQTKSPSEKMVTSSPEEDLGTSYQCKLCNRTFASKHAVKLHLSKTHGKSPEDHLLYVSELEKQ", "length": 1081, "header": "sp|Q63HK5-1|TSH3_HUMAN Isoform 1 of Teashirt homolog 3 OS=Homo sapiens OX=9606 GN=TSHZ3 PE=1 SV=2 CANONICAL=Q63HK5-1" }, "isoforms": [ { "isoform_ac": "Q63HK5-1", "url": "", "sequence": { "sequence": "MPRRKQQAPRRAAAYVSEELKAAALVDEGLDPEEHTADGEPSAKYMCPEKELARACPSYQNSPAAEFSCHEMDSESHISETSDRMADFESGSIKNEEETKEVTVPLEDTTVSDSLEQMKAVYNNFLSNSYWSNLNLNLHQPSSEKNNGSSSSSSSSSSSCGSGSFDWHQSAMAKTLQQVSQSRMLPEPSLFSTVQLYRQSSKLYGSIFTGASKFRCKDCSAAYDTLVELTVHMNETGHYRDDNHETDNNNPKRWSKPRKRSLLEMEGKEDAQKVLKCMYCGHSFESLQDLSVHMIKTKHYQKVPLKEPVTPVAAKIIPATRKKASLELELPSSPDSTGGTPKATISDTNDALQKNSNPYITPNNRYGHQNGASYAWHFEARKSQILKCMECGSSHDTLQELTAHMMVTGHFIKVTNSAMKKGKPIVETPVTPTITTLLDEKVQSVPLAATTFTSPSNTPASISPKLNVEVKKEVDKEKAVTDEKPKQKDKPGEEEEKCDISSKYHYLTENDLEESPKGGLDILKSLENTVTSAINKAQNGTPSWGGYPSIHAAYQLPNMMKLSLGSSGKSTPLKPMFGNSEIVSPTKNQTLVSPPSSQTSPMPKTNFHAMEELVKKVTEKVAKVEEKMKEPDGKLSPPKRATPSPCSSEVGEPIKMEASSDGGFRSQENSPSPPRDGCKDGSPLAEPVENGKELVKPLASSLSGSTAIITDHPPEQPFVNPLSALQSVMNIHLGKAAKPSLPALDPMSMLFKMSNSLAEKAAVATPPPLQSKKADHLDRYFYHVNNDQPIDLTKGKSDKGCSLGSVLLSPTSTAPATSSSTVTTAKTSAVVSFMSNSPLRENALSDISDMLKNLTESHTSKSSTPSSISEKSDIDGATLEEAEESTPAQKRKGRQSNWNPQHLLILQAQFAASLRQTSEGKYIMSDLSPQERMHISRFTGLSMTTISHWLANVKYQLRRTGGTKFLKNLDTGHPVFFCNDCASQIRTPSTYISHLESHLGFRLRDLSKLSTEQINSQIAQTKSPSEKMVTSSPEEDLGTSYQCKLCNRTFASKHAVKLHLSKTHGKSPEDHLLYVSELEKQ", "length": 1081, "header": "sp|Q63HK5-1|TSH3_HUMAN Isoform 1 of Teashirt homolog 3 OS=Homo sapiens OX=9606 GN=TSHZ3 PE=1 SV=2 CANONICAL=Q63HK5-1" }, "locus": { "chromosome": "19", "start_pos": 31349219, "end_pos": 31276550, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000240587.5", "url": "https://www.ensembl.org/id/ENST00000240587.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000240587.4", "url": "https://www.ensembl.org/id/ENSP00000240587.4" } ] } }, { "isoform_ac": "U3KQ78-1", "url": "", "sequence": { "sequence": "MPRRKQQAPRRAADKSINWVEVLSTWWVENVLP", "length": 33, "header": "tr|U3KQ78-1|U3KQ78_HUMAN Computationally mapped isoform of Teashirt zinc finger homeobox 3 OS=Homo sapiens OX=9606 GN=TSHZ3 PE=4 SV=1 CANONICAL=Q63HK5-1" }, "locus": { "chromosome": "19", "start_pos": 31349219, "end_pos": 31308651, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000558569.1", "url": "https://www.ensembl.org/id/ENST00000558569.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000475613.1", "url": "https://www.ensembl.org/id/ENSP00000475613.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1010, "start_aa": "Ser", "end_pos": 1010, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1010", "evidence": [ { "id": "Q63HK5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q63HK5" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q63HK5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q63HK5" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1011, "start_aa": "Thr", "end_pos": 1011, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1011", "evidence": [ { "id": "Q63HK5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q63HK5" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30059200", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30059200" }, { "id": "Q63HK5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q63HK5" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 812, "start_aa": "Ser", "end_pos": 812, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser812", "evidence": [ { "id": "Q63HK5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q63HK5" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 817, "start_aa": "Thr", "end_pos": 817, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr817", "evidence": [ { "id": "Q63HK5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q63HK5" }, { "id": "32938750", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32938750" } ] } ], "phosphorylation": [ { "start_pos": 333, "end_pos": 333, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q63HK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63HK5" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Ser333" }, { "start_pos": 596, "end_pos": 596, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q63HK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63HK5" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser596" }, { "start_pos": 599, "end_pos": 599, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q63HK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63HK5" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Thr599" }, { "start_pos": 600, "end_pos": 600, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "Q63HK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63HK5" }, { "database": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ], "site_lbl": "Ser600" }, { "start_pos": 682, "end_pos": 682, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5" }, { "database": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" }, { "database": "iPTMnet", "id": "Q63HK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63HK5" } ], "site_lbl": "Ser682" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Teashirt 3 is necessary for ureteral smooth muscle differentiation downstream of SHH and BMP4.", "journal": "Development", "date": "2008", "authors": "Caubit X, Lye CM, Martin E, Core N, Long DA, Vola C, Jenkins D, Garratt AN, Skaer H, Woolf AS, Fasano L", "evidence": [ { "database": "UniProtKB", "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5" } ], "reference": [ { "type": "PubMed", "id": "18776146", "url": "https://glygen.org/publication/PubMed/18776146" } ] }, { "title": "FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4.", "journal": "PLoS ONE", "date": "2009", "authors": "Kajiwara Y, Akram A, Katsel P, Haroutunian V, Schmeidler J, Beecham G, Haines JL, Pericak-Vance MA, Buxbaum JD", "evidence": [ { "database": "UniProtKB", "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5" } ], "reference": [ { "type": "PubMed", "id": "19343227", "url": "https://glygen.org/publication/PubMed/19343227" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "Q63HK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63HK5" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Phosphorylation dynamics during early differentiation of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Van Hoof D, Munoz J, Braam SR, Pinkse MW, Linding R, Heck AJ, Mummery CL, Krijgsveld J", "evidence": [ { "database": "iPTMnet", "id": "Q63HK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63HK5" } ], "reference": [ { "type": "PubMed", "id": "19664995", "url": "https://glygen.org/publication/PubMed/19664995" } ] }, { "title": "Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction.", "journal": "Nephrol. Dial. Transplant.", "date": "2010", "authors": "Jenkins D, Caubit X, Dimovski A, Matevska N, Lye CM, Cabuk F, Gucev Z, Tasic V, Fasano L, Woolf AS", "evidence": [ { "database": "UniProtKB", "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5" }, { "database": "RefSeq", "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907" } ], "reference": [ { "type": "PubMed", "id": "19745106", "url": "https://glygen.org/publication/PubMed/19745106" } ] }, { "title": "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.", "journal": "PloS one", "date": "2010", "authors": "Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ", "evidence": [ { "database": "RefSeq", "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907" } ], "reference": [ { "type": "PubMed", "id": "20877624", "url": "https://glygen.org/publication/PubMed/20877624" } ] }, { "title": "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.", "journal": "Science signaling", "date": "2011", "authors": "Rigbolt KT, Prokhorova TA, Akimov V, Henningsen J, Johansen PT, Kratchmarova I, Kassem M, Mann M, Olsen JV, Blagoev B", "evidence": [ { "database": "UniProtKB", "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5" }, { "database": "iPTMnet", "id": "Q63HK5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q63HK5" } ], "reference": [ { "type": "PubMed", "id": "21406692", "url": "https://glygen.org/publication/PubMed/21406692" } ] }, { "title": "TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.", "journal": "Nat. Genet.", "date": "2016", "authors": "Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Lieden A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Lydia Kerkerian-Le Goff, Fasano L", "evidence": [ { "database": "UniProtKB", "id": "Q63HK5", "url": "https://www.uniprot.org/uniprot/Q63HK5" } ], "reference": [ { "type": "PubMed", "id": "27668656", "url": "https://glygen.org/publication/PubMed/27668656" } ] }, { "title": "MiR-338-5p Promotes Glioma Cell Invasion by Regulating TSHZ3 and MMP2.", "journal": "Cellular and molecular neurobiology", "date": "2018", "authors": "Li Y, Huang Y, Qi Z, Sun T, Zhou Y", "evidence": [ { "database": "RefSeq", "id": "NP_065907", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_065907" } ], "reference": [ { "type": "PubMed", "id": "28780604", "url": 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