{ "uniprot_canonical_ac": "D3ZHX2-1", "uniprot_ac": "D3ZHX2", "uniprot_id": "D3ZHX2_RAT", "mass": { "chemical_mass": 33635.0, "monoisotopic_mass": 33635.0 }, "refseq": { "ac": "NP_001100892", "name": "THAP domain-containing protein 11", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100892" }, "gene_names": [ { "name": "Thap11", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/D3ZHX2", "id": "D3ZHX2" }, { "name": "Thap11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100892", "id": "NP_001100892" } ], "protein_names": [ { "name": "THAP domain containing 11", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "D3ZHX2" }, { "name": "THAP domain-containing protein 11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100892", "id": "NP_001100892" } ], "function": [ { "annotation": "Expansion of the polyglutamine in THAP11 forms intracellular aggregation and is toxic in PC12 cells, suggesting a putative role of THAP11 in polyglutamine disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001100892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100892" }, { "database": "PubMed", "id": "24677642", "url": "https://glygen.org/publication/PubMed/24677642" } ] } ], "disease": [ { "disease_id": "DOID:0050715", "recommended_name": { "id": "DOID:0050715", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050715", "name": "methylmalonic aciduria and homocystinuria type cblC", "description": "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase." }, "synonyms": [ { "id": "DOID:0050715", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050715", "name": "MAHCC", "description": "" }, { "id": "DOID:0050715", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050715", "name": "Cobalamin C deficiency", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic aciduria and homocystinuria type cblC", "description": "A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner." }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "cblC defect", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "cobalamin C defect", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "cobalamin C deficiency", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "cobalamin c disease", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic aciduria and homocystinuria type cblC", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic aciduria with homocystinuria, type cblC", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "MAHCC", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "cblC", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "cblC - cobalamin locus c", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "cblC methylmalonic acidemia and homocystinuria", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "cobalamin locus c variant", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic acidemia and homocystinuria cblC", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic acidemia and homocystinuria, cblC type", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic acidemia with homocystinuria type cblC", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic acidemia with homocystinuria, type cblC", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic aciduria and homocystinuria cblC", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic aciduria and homocystinuria, cblC type", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic aciduria and homocystinuria, cblC type, digenic", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "methylmalonic aciduria and homocystinuria, vitamin B12-responsive", "description": "" }, { "id": "MONDO:0010184", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010184", "name": "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-Coa mutase and homocysteine:methyltetrahydrofolate methyltransferase", "description": "" }, { "id": "MIM:277400", "resource": "MIM", "url": "https://www.omim.org/entry/277400", "name": "Methylmalonic aciduria and homocystinuria, cblC type", "description": "Methylmalonic aciduria and homocystinuria, cblC type" } ], "evidence": [ { "id": "0050715", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050715" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "common_name": "Rat" } ], "gene": [ { "name": "Thap11", "url": "https://www.uniprot.org/uniprot/D3ZHX2", "locus": { "chromosome": "19", "start_pos": 33749540, "end_pos": 33746854, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000019109", "url": "https://www.ensembl.org/id/ENSRNOG00000019109" } ] } } ], "crossref": [ { "id": "ENSRNOG00000019109", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000019109", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd22291", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd22291", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "307806", "url": "https://www.ncbi.nlm.nih.gov/gene/307806", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR006612", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006612", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:307806", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:307806", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "NERKAQR", "url": "https://omabrowser.org/oma/group/NERKAQR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4229223at2759", "url": "http://www.orthodb.org/?query=4229223at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR22794", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22794", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR22794:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR22794:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF05485", "url": "http://pfam.xfam.org/family/PF05485", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "NP_001100892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100892", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1310268", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1310268", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3ZHX2-1", "url": "https://www.uniprot.org/uniprot/D3ZHX2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQQQQQQQQQQQQQQQQQQQQQQQSPSSSTAQTAQLQPNLVSASAAVLLTLQAAVDSSQAPGTVVPAPTTSSGDDVKPIDLTVQVEFAAAEGAAAAAAASELEAATAGLEAAECTLGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKDRLLAMAVIRKKHGM", "length": 308, "header": "tr|D3ZHX2-1|D3ZHX2_RAT Isoform 1 of THAP domain containing 11 OS=Rattus norvegicus OX=10116 GN=Thap11 PE=4 SV=1 CANONICAL=D3ZHX2-1" }, "isoforms": [ { "isoform_ac": "D3ZHX2-1", "url": "", "sequence": { "sequence": "MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQQQQQQQQQQQQQQQQQQQQQQQSPSSSTAQTAQLQPNLVSASAAVLLTLQAAVDSSQAPGTVVPAPTTSSGDDVKPIDLTVQVEFAAAEGAAAAAAASELEAATAGLEAAECTLGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKDRLLAMAVIRKKHGM", "length": 308, "header": "tr|D3ZHX2-1|D3ZHX2_RAT Isoform 1 of THAP domain containing 11 OS=Rattus norvegicus OX=10116 GN=Thap11 PE=4 SV=1 CANONICAL=D3ZHX2-1" }, "locus": { "chromosome": "19", "start_pos": 33748118, "end_pos": 33747195, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000025815.4", "url": "https://www.ensembl.org/id/ENSRNOT00000025815.4" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000025815.2", "url": "https://www.ensembl.org/id/ENSRNOP00000025815.2" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Expansion of the polyQ repeats in THAP11 forms intranuclear aggregation and causes cell G0/G1 arrest.", "journal": "Cell biology international", "date": "2014", "authors": "Yin RH, Li Y, Yang F, Zhan YQ, Yu M, Ge CH, Xu WX, Tang LJ, Wang XH, Chen B, Yang Y, Li JJ, Li CY, Yang XM", "evidence": [ { "database": "RefSeq", "id": "NP_001100892", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001100892" } ], "reference": [ { "type": "PubMed", "id": "24677642", "url": "https://glygen.org/publication/PubMed/24677642" } ] } ], "pathway": [ { "id": "rno:307806", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:307806", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q96EK4-1", "protein_name": "THAP domain-containing protein 11", "gene_name": "THAP11", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQQQQQQQQQQQQQQQQQQQQQQQQQQQQSSPSASTAQTAQLQPNLVSASAAVLLTLQATVDSSQAPGSVQPAPITPTGEDVKPIDLTVQVEFAAAEGAAAAAAASELQAATAGLEAAECPMGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKDRLLAMAVIRKKHGM", "length": 314 }, "evidence": [ { "id": "45226190", "url": "http://www.informatics.jax.org/homology/45226190", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q9JJD0-1", "protein_name": "THAP domain-containing protein 11", "gene_name": "Thap11", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MPGFTCCVPGCYNNSHRDKALHFYTFPKDAELRRLWLKNVSRAGVSGCFSTFQPTTGHRLCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAARRRQQQQQQQQQQQQQQQLQQQQPSPSSSTAQTTQLQPNLVSASAAVLLTLQAAVDSNQAPGSVVPVSTTPSGDDVKPIDLTVQVEFAAAEGAAAAAAASELEAATAGLEAAECTLGPQLVVVGEEGFPDTGSDHSYSLSSGTTEEELLRKLNEQRDILALMEVKMKEMKGSIRHLRLTEAKLREELREKDRLLAMAVIRKKHGM", "length": 305 }, "evidence": [ { "id": "45226190", "url": "http://www.informatics.jax.org/homology/45226190", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "cell population proliferation", "id": "GO:0008283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008283", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "negative regulation of neuron apoptotic process", "id": "GO:0043524", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043524", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "neuron differentiation", "id": "GO:0030182", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030182", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "positive regulation of androgen receptor activity", "id": "GO:2000825", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000825", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "electron transport chain", "id": "GO:0022900", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022900", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "regulation of mitochondrial transcription", "id": "GO:1903108", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1903108", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 6, "go_terms": [ { "name": "DNA binding", "id": "GO:0003677", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "zinc ion binding", "id": "GO:0008270", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008270", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "RNA polymerase II transcription regulatory region sequence-specific DNA binding", "id": "GO:0000977", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000977", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "D3ZHX2", "url": "https://www.uniprot.org/uniprot/D3ZHX2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 13, "end_pos": 15, "annotation": "n_glycosylation_sequon" }, { 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