{ "uniprot_canonical_ac": "O43257-1", "uniprot_ac": "O43257", "uniprot_id": "ZNHI1_HUMAN", "mass": { "chemical_mass": 17536.0, "monoisotopic_mass": 17536.0 }, "refseq": { "ac": "NP_006340", "name": "zinc finger HIT domain-containing protein 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340" }, "gene_names": [ { "name": "ZNHIT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43257", "id": "O43257" }, { "name": "CG1I; p18(Hamlet); ZNFN4A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340", "id": "NP_006340" }, { "name": "CGBP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43257", "id": "O43257" }, { "name": "ZNFN4A1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43257", "id": "O43257" }, { "name": "ZNHIT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340", "id": "NP_006340" } ], "protein_names": [ { "name": "Zinc finger HIT domain-containing protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43257" }, { "name": "Cyclin-G1-binding protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43257" }, { "name": "Zinc finger protein subfamily 4A member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43257" }, { "name": "p18 Hamlet", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43257" }, { "name": "putative cyclin G1 interacting protein; zinc finger, HIT domain containing 1; H_DJ0747G18.14; zinc finger, HIT type 1; zinc finger protein, subfamily 4A (HIT domain containing), member 1; p18Hamlet; p18 Hamlet; cyclin-G1-binding protein 1; zinc finger protein subfamily 4A member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340", "id": "NP_006340" }, { "name": "zinc finger HIT domain-containing protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340", "id": "NP_006340" } ], "function": [ { "annotation": "A combined proteomics and bioinformatics analysis of ZNHIT1-interacting proteins reveals a significant enrichment in proteins associated with mitochondrial function.", "evidence": [ { "database": "RefSeq", "id": "NP_006340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340" }, { "database": "PubMed", "id": "37178741", "url": "https://glygen.org/publication/PubMed/37178741" } ] }, { "annotation": "Gene Co-expression Analysis of the Human Substantia Nigra Identifies ZNHIT1 as an SNCA Co-expressed Gene that Protects Against alpha-Synuclein-Induced Impairments in Neurite Growth and Mitochondrial Dysfunction in SH-SY5Y Cells.", "evidence": [ { "database": "RefSeq", "id": "NP_006340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340" }, { "database": "PubMed", "id": "35175558", "url": "https://glygen.org/publication/PubMed/35175558" } ] }, { "annotation": "P18(Hamlet) is a new cell-fate regulator that links the p38 MAPK and p53 pathways and contributes to the establishment of p53-regulated stress responses.", "evidence": [ { "database": "RefSeq", "id": "NP_006340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340" }, { "database": "PubMed", "id": "17380123", "url": "https://glygen.org/publication/PubMed/17380123" } ] }, { "annotation": "Plays a role in chromatin remodeling by promoting the incorporation of histone variant H2AZ1/H2A.Z into the genome to regulate gene expression (PubMed:20473270, PubMed:35175558). Promotes SRCAP complex-mediated deposition of histone variant H2AZ1 to lymphoid fate regulator genes, enhancing lymphoid lineage commitment (By similarity). Recruited to the promoter of the transcriptional activator MYOG at the early stages of muscle differentiation where it mediates binding of histone H2AZ1 to chromatin and induces muscle-specific gene expression (PubMed:20473270). Maintains hematopoietic stem cell (HSC) quiescence by determining the chromatin accessibility at distal enhancers of HSC quiescence genes such as PTEN, FSTL1 and KLF4, enhancing deposition of H2AZ1 to promote their sustained transcription and restricting PI3K-AKT signaling inhibition (By similarity). Plays a role in intestinal stem cell maintenance by promoting H2AZ1 deposition at the transcription start sites of genes involved in intestinal stem cell fate determination including LGR5, TGFB1 and TGFBR2, thereby contributing to gene transcription (By similarity). Promotes phosphorylation of the H2AZ1 chaperone VPS72/YL1 which enhances the interaction between HZAZ1 and VPS72 (By similarity). Regulates the entry of male germ cells into meiosis by controlling histone H2AZ1 deposition which facilitates the expression of meiotic genes such as MEIOSIN, leading to the initiation of meiosis (By similarity). Required for postnatal heart function through its role in maintenance of cardiac Ca(2+) homeostasis by modulating the expression of Ca(2+)-regulating proteins CASQ1 and ATP2A2/SERCA2A via deposition of histone H2AZ1 at their promoters (By similarity). During embryonic heart development, required for mitochondrial maturation and oxidative metabolism by functioning through H2AZ1 deposition to activate transcription of metabolic genes and is also required to maintain the stability of the respiratory complex (By similarity). In neural cells, increases deposition of the H2AZ1 histone variant and promotes neurite growth (PubMed:35175558). Plays a role in TP53/p53-mediated apoptosis induction by stimulating the transcriptional activation of several proapoptotic p53 target genes such as PMAIP1/NOXA and BBC3/PUMA (PubMed:17380123). Mediates cell cycle arrest induced in response to gamma-irradiation by enhancing recruitment of TP53/p53 to the promoter of the cell cycle inhibitor CDKN1A, leading to its transcriptional activation (PubMed:17700068). Recruited to the promoter of cyclin-dependent kinase CDK6 and inhibits its transcription, possibly by decreasing the acetylation level of histone H4, leading to cell cycle arrest at the G1 phase (By similarity). Plays a role in lens fiber cell differentiation by regulating the expression of cell cycle regulator CDKN1A/p21Cip1 (By similarity). Binds to transcriptional repressor NR1D2 and relieves it of its inhibitory effect on the transcription of apolipoprotein APOC3 without affecting its DNA-binding activity (PubMed:17892483).", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257#function" }, { "database": "PubMed", "id": "17380123", "url": "https://glygen.org/publication/PubMed/17380123" }, { "database": "PubMed", "id": "17892483", "url": "https://glygen.org/publication/PubMed/17892483" }, { "database": "UniProtKB", "id": "Q8R331", "url": "https://www.uniprot.org/uniprot/Q8R331#function" }, { "database": "PubMed", "id": "20473270", "url": "https://glygen.org/publication/PubMed/20473270" }, { "database": "PubMed", "id": "17700068", "url": "https://glygen.org/publication/PubMed/17700068" }, { "database": "PubMed", "id": "35175558", "url": "https://glygen.org/publication/PubMed/35175558" } ] }, { "annotation": "Znhit1 and HIF-2alpha are correlated with cancer stem cell markers in breast cancer patients. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340" }, { "database": "PubMed", "id": "35978075", "url": "https://glygen.org/publication/PubMed/35978075" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43257", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43257" } ], "glycoeffect": [], "start_pos": 97, "end_pos": 97, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "7", "chr_pos": "101223688", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E97", "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": "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:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 103, "end_pos": 103, "sequence_org": "T", "sequence_mut": "A", "comment": "Impairs the p38 MAPK-mediated phosphorylation of ZNHIT1.", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" }, { "database": "PubMed", "id": "17380123", "url": "https://glygen.org/publication/PubMed/17380123" } ] }, { "start_pos": 124, "end_pos": 124, "sequence_org": "S", "sequence_mut": "A", "comment": "No change in the in vitro MAPK14/MAPK11-induced phosphorylation level of ZNHIT1.", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "93.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "92.31", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "92.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "91.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "93.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "95.07", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "87.97", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.46", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000106400", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000106400" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "94.53", "present": "HIGH", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43257" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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Biol. Chem.", "date": "2005", "authors": "Cai Y, Jin J, Florens L, Swanson SK, Kusch T, Li B, Workman JL, Washburn MP, Conaway RC, Conaway JW", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" } ], "reference": [ { "type": "PubMed", "id": "15647280", "url": "https://glygen.org/publication/PubMed/15647280" } ] }, { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "A new p38 MAP kinase-regulated transcriptional coactivator that stimulates p53-dependent apoptosis.", "journal": "The EMBO journal", "date": "2007", "authors": "Cuadrado A, Lafarga V, Cheung PC, Dolado I, Llanos S, Cohen P, Nebreda AR", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" }, { "database": "RefSeq", "id": "NP_006340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340" }, { "database": "iPTMnet", "id": "O43257", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43257" } ], "reference": [ { "type": "PubMed", "id": "17380123", "url": "https://glygen.org/publication/PubMed/17380123" } ] }, { "title": "p18(Hamlet) mediates different p53-dependent responses to DNA-damage inducing agents.", "journal": "Cell cycle (Georgetown, Tex.)", "date": "2007-10-01", "authors": "Lafarga Vanesa, Cuadrado Ana, Nebreda Angel R", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" } ], "reference": [ { "type": "PubMed", "id": "17700068", "url": "https://glygen.org/publication/PubMed/17700068" } ] }, { "title": "A zinc finger HIT domain-containing protein, ZNHIT-1, interacts with orphan nuclear hormone receptor Rev-erbbeta and removes Rev-erbbeta-induced inhibition of apoCIII transcription.", "journal": "The FEBS journal", "date": "2007-10", "authors": "Wang Jiadong, Li Yang, Zhang Min, Liu Zhongle, Wu Cong, Yuan Hanying, Li Yu-Yang, Zhao Xin, Lu Hong", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" } ], "reference": [ { "type": "PubMed", "id": "17892483", "url": "https://glygen.org/publication/PubMed/17892483" } ] }, { "title": "Essential role of p18Hamlet/SRCAP-mediated histone H2A.Z chromatin incorporation in muscle differentiation.", "journal": "The EMBO journal", "date": "2010", "authors": "Cuadrado A, Corrado N, Perdiguero E, Lafarga V, Munoz-Canoves P, Nebreda AR", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" } ], "reference": [ { "type": "PubMed", "id": "20473270", "url": "https://glygen.org/publication/PubMed/20473270" } ] }, { "title": "R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein.", "journal": "Nat. Commun.", "date": "2017", "authors": "Cloutier P, Poitras C, Durand M, Hekmat O, Fiola-Masson E, Bouchard A, Faubert D, Chabot B, Coulombe B", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" } ], "reference": [ { "type": "PubMed", "id": "28561026", "url": "https://glygen.org/publication/PubMed/28561026" } ] }, { "title": "Gene Co-expression Analysis of the Human Substantia Nigra Identifies ZNHIT1 as an SNCA Co-expressed Gene that Protects Against alpha-Synuclein-Induced Impairments in Neurite Growth and Mitochondrial Dysfunction in SH-SY5Y Cells.", "journal": "Molecular neurobiology", "date": "2022", "authors": "McCarthy E, Barron A, Morales-Prieto N, Mazzocchi M, McCarthy CM, Collins LM, Sullivan AM, O'Keeffe GW", "evidence": [ { "database": "UniProtKB", "id": "O43257", "url": "https://www.uniprot.org/uniprot/O43257" }, { "database": "RefSeq", "id": "NP_006340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340" } ], "reference": [ { "type": "PubMed", "id": "35175558", "url": "https://glygen.org/publication/PubMed/35175558" } ] }, { "title": "Znhit1 and HIF-2alpha are correlated with cancer stem cell markers in breast cancer patients.", "journal": "Scientific reports", "date": "2022", "authors": "Ebeid SA, Abd El Moneim NA, El-Benhawy SA, Ramadan R, Ismail SE", "evidence": [ { "database": "RefSeq", "id": "NP_006340", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006340" } ], "reference": [ { "type": "PubMed", "id": "35978075", "url": "https://glygen.org/publication/PubMed/35978075" } ] }, { "title": "A combined proteomics and bioinformatics analysis of ZNHIT1-interacting proteins reveals a significant enrichment in proteins associated with mitochondrial function.", "journal": "Journal of chemical neuroanatomy", "date": "2023-05-11", "authors": "Anantha Jayanth, Wilson Fionnuala E, McCarthy Erin, Prieto Noelia Morales, Mazzocchi Martina, Collins Louise M, Sullivan Aideen M, O'Keeffe Gerard W", 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