{ "uniprot_canonical_ac": "P53804-1", "uniprot_ac": "P53804", "uniprot_id": "TTC3_HUMAN", "mass": { "chemical_mass": 229869.0, "monoisotopic_mass": 229869.0 }, "refseq": { "ac": "NP_001001894", "name": "E3 ubiquitin-protein ligase TTC3 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" }, "gene_names": [ { "name": "TTC3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P53804", "id": "P53804" }, { "name": "DCRR1; RNF105; TPRDIII", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894", "id": "NP_001001894" }, { "name": "DCRR1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P53804", "id": "P53804" }, { "name": "RNF105", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P53804", "id": "P53804" }, { "name": "TPRD", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P53804", "id": "P53804" }, { "name": "TTC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894", "id": "NP_001001894" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase TTC3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P53804" }, { "name": "2.3.2.27", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53804" }, { "name": "E3 ubiquitin-protein ligase TTC3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894", "id": "NP_001001894" }, { "name": "E3 ubiquitin-protein ligase TTC3 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633", "id": "NP_001307633" }, { "name": "Protein DCRR1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53804" }, { "name": "RING finger protein 105", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53804" }, { "name": "RING-type E3 ubiquitin transferase TTC3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53804" }, { "name": "TPR repeat protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53804" }, { "name": "TPR repeat protein D; E3 ubiquitin-protein ligase TTC3; TPR repeat protein 3; RING finger protein 105; tetratricopeptide repeat protein 3; RING-type E3 ubiquitin transferase TTC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633", "id": "NP_001307633" }, { "name": "TPR repeat protein D", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53804" }, { "name": "Tetratricopeptide repeat protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P53804" } ], "function": [ { "annotation": "An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.", "evidence": [ { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" }, { "database": "PubMed", "id": "37677864", "url": "https://glygen.org/publication/PubMed/37677864" }, { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" } ] }, { "annotation": "Data suggest that TTC3 may contribute to TGF-beta1-induced EMT and myofibroblast differentiation, potentially through SMURF2 ubiquitylation/proteasomal degradation and subsequent inhibition of SMURF2-mediated suppression of SMAD2 and SMAD3, which in turn induces TTC3 expression. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" }, { "database": "PubMed", "id": "30696809", "url": "https://glygen.org/publication/PubMed/30696809" }, { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" } ] }, { "annotation": "Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.", "evidence": [ { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" }, { "database": "PubMed", "id": "33626494", "url": "https://glygen.org/publication/PubMed/33626494" }, { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" } ] }, { "annotation": "E3 ubiquitin-protein ligase which catalyzes the formation of 'Lys-48'-polyubiquitin chains (PubMed:20059950, PubMed:30696809). Mediates the ubiquitination and subsequent degradation of phosphorylated Akt (AKT1, AKT2 and AKT3) in the nucleus (PubMed:20059950). Acts as a terminal regulator of Akt signaling after activation; its phosphorylation by Akt, which is a prerequisite for ubiquitin ligase activity, suggests the existence of a regulation mechanism required to control Akt levels after activation (PubMed:20059950). Positively regulates TGFB1-induced epithelial-mesenchymal transition and myofibroblast differentiation by mediating the ubiquitination and subsequent degradation of SMURF2 (PubMed:30696809). Regulates neuronal differentiation by regulating actin remodeling and Golgi organization via a signaling cascade involving RHOA, CIT and ROCK (PubMed:17488780, PubMed:24695496). Inhibits cell proliferation (PubMed:30203323).", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804#function" }, { "database": "PubMed", "id": "17488780", "url": "https://glygen.org/publication/PubMed/17488780" }, { "database": "PubMed", "id": "20059950", "url": "https://glygen.org/publication/PubMed/20059950" }, { "database": "PubMed", "id": "30203323", "url": "https://glygen.org/publication/PubMed/30203323" }, { "database": "PubMed", "id": "30696809", "url": "https://glygen.org/publication/PubMed/30696809" }, { "database": "PubMed", "id": "24695496", "url": "https://glygen.org/publication/PubMed/24695496" } ] }, { "annotation": "Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus.", "evidence": [ { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" }, { "database": "PubMed", "id": "30203323", "url": "https://glygen.org/publication/PubMed/30203323" }, { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" } ] }, { "annotation": "TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" }, { "database": "PubMed", "id": "33638766", "url": "https://glygen.org/publication/PubMed/33638766" }, { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "P53804", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P53804" } ], "glycoeffect": [], "start_pos": 1059, "end_pos": 1059, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (4).", "chr_id": "21", "chr_pos": "37164056", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R1059", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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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"name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"url": "https://www.uniprot.org/uniprot/P53804-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSERNLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEINLKKLQHLELMEDIVDLAKKVANDSFLIGGLLRIGCKIENKILAMEEALNWIKYAGDVTILTKLGSIDNCWPMLSIFFTEYKYHITKIVMEDCNLLEELKTQSCMDCIEEGELMKMKGNEEFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRNALGDGKRATILKNTWPKGHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYFSEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSGEAPFSSTKVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEFEALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPEETRQILEKAGGLKPFLLGCPRFVVIDNCIALKKVASRLKKKRKKKNIKTKVEEISKAGEYVRVKLQLNPAAREFKPDVKSKPVSDSSSAPAFENVKPKPVSANSPKPACEDVKAKPVSDNSSRQVSEDGQPKGVSSNSPKPGSEDANYKRVSCNSPKPVLEDVKPTYWAQSHLVTGYCTYLPFQRFDITQTPPAYINVLPGLPQYTSIYTPLASLSPEYQLPRSVPVVPSFVANDRADKNAAAYFEGHHLNAENVAGHQIASETQILEGSLGISVKSHCSTGDAHTVLSESNRNDEHCGNSNNKCEVIPESTSAVTNIPHVQMVAIQVSWNIIHQEVNTEPYNPFEERQGEISRIEKEHQVLQDQLQEVYENYEQIKLKGLEETRDLEEKLKRHLEENKISKTELDWFLQDLEREIKKWQQEKKEIQERLKSLKKKIKKVSNASEMYTQKNDGKEKEHELHLDQSLEISNTLTNEKMKIEEYIKKGKEDYEESHQRAVAAEVSVLENWKESEVYKLQIMESQAEAFLKKLGLISRDPAAYPDMESDIRSWELFLSNVTKEIEKAKSQFEEQIKAIKNGSRLSELSKVQISELSFPACNTVHPELLPESSGDDGQGLVTSASDVTGNHAALHRDPSVFSAGDSPGEAPSALLPGPPPGQPEATQLTGPKRAGQAALSERSPVADRKQPVPPGRAARSSQSPKKPFNSIIEHLSVVFPCYNSTELAGFIKKVRSKNKNSLSGLSIDEIVQRVTEHILDEQKKKKPNPGKDKRTYEPSSATPVTRSSQGSPSVVVAPSPKTKGQKAEDVPVRIALGASSCEICHEVFKSKNVRVLKCGHKYHKGCFKQWLKGQSACPACQGRDLLTEESPSGRGWPSQNQELPSCSSR", "length": 2025, "header": "sp|P53804-1|TTC3_HUMAN Isoform 1 of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=2 CANONICAL=P53804-1" }, "isoforms": [ { "isoform_ac": "A0A8Q3SJJ4-1", "url": "", "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVNLTSAVYGVVNQFLSCKIIAMPLK", "length": 72, "header": "tr|A0A8Q3SJJ4-1|TTC3_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37088267, "end_pos": 37087258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000485402.5", "url": "https://www.ensembl.org/id/ENST00000485402.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000512883.1", "url": "https://www.ensembl.org/id/ENSP00000512883.1" } ] } }, { "isoform_ac": "A0A8Q3WLK8-1", "url": "", "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSERNLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEINLKKLQHLELMEDIVDLAKKVANDSFLIGGLLRIGCKIENKILAMEEALNWIKYAGDVTILTKLGSIDNCWPMLSIFFTE", "length": 200, "header": "tr|A0A8Q3WLK8-1|A0A8Q3WLK8_HUMAN Computationally mapped isoform of Tetratricopeptide repeat domain 3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37091413, "end_pos": 37087258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000479930.5", "url": "https://www.ensembl.org/id/ENST00000479930.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000512894.1", "url": "https://www.ensembl.org/id/ENSP00000512894.1" } ] } }, { "isoform_ac": "A0A8Q3WLL9-1", "url": "", "sequence": { "sequence": "MLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEPRETKTERRQKIEEKDPKKRSKKVSTRKNGGGLKRK", "length": 463, "header": "tr|A0A8Q3WLL9-1|A0A8Q3WLL9_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37152000, "end_pos": 37121847, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696812.1", "url": "https://www.ensembl.org/id/ENST00000696812.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512891.1", "url": "https://www.ensembl.org/id/ENSP00000512891.1" } ] } }, { "isoform_ac": "A0A8Q3WLN3-1", "url": "", "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSERNLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEINLKKLQHLELMEDIVDLAKKVANDSFLIGGLLRIGCKIENIIYLAYVSPNEIIRPLKILAMEEALNWIKYAGDVTILTKLGSIDNCWPMLSIFFTEYKYHITKIVMEDCNLLEELKTQSCMDCIEEGELMKMKGNEEFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRNALGDGKRATILKNTWPKGHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYFSEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSGEAPFSSTKVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEFEALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPEETRQILEKAGGLKPFLLGCPRFVVIDNCIALKKVASRLKKKRKKKNIKTKVEEISKAGEYVRVKLQLNPAAREFKPDVKSKPVSDSSSAPAFENVKPKPVSANSPKPACEDVKAKPVSDNSSRQVSEDGQPKGVSSNSPKPGSEDANYKRVSCNSPKPVLEDVKPTYWAQSHLVTGYCTYLPFQRFDITQTPPAYINVLPGLPQYTSIYTPLASLSPEYQLPRSVPVVPSFVANDRADKNAAAYFEGHHLNAENVAGHQIASETQILEGSLGISVKSHCSTGDAHTVLSESNRNDEHCGNSNNKCEVIPESTSAVTNIPHVQMVAIQVSWNIIHQEVNTEPYNPFEERQGEISRIEKEHQVLQDQLQEVYENYEQIKLKGLEETRDLEEKLKRHLEENKISKTELDWFLQDLEREIKKWQQEKKEIQERLKSLKKKIKKVSNASEMYTQKNDGKEKEHELHLDQSLEISNTLTNEKMKIEEYIKKGKEDYEESHQRAVAAEVSVLENWKESEVYKLQIMESQAEAFLKKLGLISRDPAAYPDMESDIRSWELFLSNVTKEIEKAKSQFEEQIKAIKNGSRLSELSKVQISELSFPACNTVHPELLPESSGDDGQGLVTSASDVTGNHAALHRDPSVFSAGDSPGEAPSALLPGPPPGQPEATQLTGPKRAGQAALSERSPVADRKQPVPPGRAARSSQSPKKPFNSIIEHLSVVFPCYNSTELAGFIKKVRSKNKNSLSGLSIDEIVQRVTEHILDEQKKKKPNPGKDKRTYEPSSATPVTRSSQGSPSVVVAPSPKTKGQKAEDVPVRIALGASSCEICHEVFKSKNVRVLKCGHKYHKGCFKQWLKGQSACPACQGRDLLTEESPSGRGWPSQNQELPSCSSSID", "length": 2043, "header": "tr|A0A8Q3WLN3-1|TTC3_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37202290, "end_pos": 37087258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000696811.1", "url": "https://www.ensembl.org/id/ENST00000696811.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000512890.1", "url": "https://www.ensembl.org/id/ENSP00000512890.1" } ] } }, { "isoform_ac": "A0A8Q3WMF6-1", "url": "", "sequence": { "sequence": "MANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYFSEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSGEAPFSSTKVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEFEALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPEETRQILEKAGGLKPFLLGCPRFVVIDN", "length": 766, "header": "tr|A0A8Q3WMF6-1|A0A8Q3WMF6_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37165715, "end_pos": 37124713, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000481605.6", "url": "https://www.ensembl.org/id/ENST00000481605.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000512892.1", "url": "https://www.ensembl.org/id/ENSP00000512892.1" } ] } }, { "isoform_ac": "A8MT23-1", "url": "", "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSERNLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEINLKKLQHLELMEDIVDLAKKVANDSFLIGGLLRIGCKIENKILAMEEALNWIKYAGDVTILTKLGSIDNCWPMLSIFFTEYKYHITKIVMEDCNLLEELKTQSCMDCIEEGELMKMKGNEEFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRTHSHGRKFGKYKSLKRRK", "length": 300, "header": "tr|A8MT23-1|A8MT23_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37097969, "end_pos": 37087258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399010", "url": "https://www.ensembl.org/id/ENST00000399010" }, { "database": "Ensembl Peptide", "id": "ENSP00000381974", "url": "https://www.ensembl.org/id/ENSP00000381974" } ] } }, { "isoform_ac": "B4DSZ9-1", "url": "", "sequence": { "sequence": "MLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGMSLYIPEQ", "length": 612, "header": "tr|B4DSZ9-1|TTC3_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37153303, "end_pos": 37121847, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000540756.5", "url": "https://www.ensembl.org/id/ENST00000540756.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442875.1", "url": "https://www.ensembl.org/id/ENSP00000442875.1" } ] } }, { "isoform_ac": "E9PCE7-1", "url": "", "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSERNLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEINLKKLQHLELMEDIVDLAKKVAKILAMEEALNWIKYAGDVTILTKLGSIDNCWPMLSIFFTEYKYHITKIVMEDCNLLEELKTQSCMDCIEEGELMKMKGNEEFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRNALGDGKRATILKNTWPKGHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYFSEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSGEAPFSSTKVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEFEALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPEETRQILEKAGGLKPFLLGCPRFVVIDNCIALKKVASRLKKKRK", "length": 1165, "header": "tr|E9PCE7-1|E9PCE7_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37165763, "end_pos": 37087258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000438055.5", "url": "https://www.ensembl.org/id/ENST00000438055.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000391891.1", "url": "https://www.ensembl.org/id/ENSP00000391891.1" } ] } }, { "isoform_ac": "E9PMP8-1", "url": "", "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSERNLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEINLKKLQHLELMEDIVDLAKKVANDSFLIGGLLRIGCKIENKILAMEEALNWIKYAGDVTILTKLGSIDNCWPMLSIFFTEYKYHITKIVMEDCNLLEELKTQSCMDCIEEGELMKMKGNEEFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRNALGDGKRATILKNTWPKGHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYFSEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSGEAPFSSTKVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEFEALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPEETRQILEKAGGLKPFLLGCPRFVVIDNCIALKKVASRLK", "length": 1179, "header": "tr|E9PMP8-1|TTC3_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37201571, "end_pos": 37087258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000418766", "url": "https://www.ensembl.org/id/ENST00000418766" }, { "database": "Ensembl Peptide", "id": "ENSP00000403943", "url": "https://www.ensembl.org/id/ENSP00000403943" } ] } }, { "isoform_ac": "E9PMS7-1", "url": "", "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSERNLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEINLKKLQHLELMEDIVDLAKKVANDSFLIGGLLRIGCKIENKILAMEEALNWIKYAGDVTILTKLGSIDNCWPMLSIFFTEYKYHITKIVMEDCNLLEELKTQSCMDCIEEGELMKMKGNEEFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRNALGDGKRATILKNTWPKGHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEA", "length": 780, "header": "tr|E9PMS7-1|TTC3_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37201571, "end_pos": 37087258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000450533", "url": "https://www.ensembl.org/id/ENST00000450533" }, { "database": "Ensembl Peptide", "id": "ENSP00000408456", "url": "https://www.ensembl.org/id/ENSP00000408456" } ] } }, { "isoform_ac": "H7BZ57-1", "url": "", "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSERNLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEINLKKLQHLELMEDIVDLAKKVANDSFLIGGLLRIGCKIENKILAMEEALNWIKYAGDVTILTKLGSIDNCWPMLSIFFTEYKYHITKIVMEDCNLLEELKTQSCMDCIEEGELMKMKGNEEFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRNALGDGKRATILKNTWPKGHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYFSEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDIFTASWERLHVTLTESINSRCTVLRKQDSGEAPFSSTKVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEFEALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPEETRQILEKAGGLKPFLLGCPRFVVIDNCIALKKVASRLKKKRKKKNIKTKVEEISKAGEYVRVKLQLNPAAREFKPDVKSKPVSDSSSAPAFENVKPKPVSANSPKPACEDVKAKPVSDNSSRQVSEDGQPKGVSSNSPKPGSEDANYKRVSCNSPKPVLEDVKPTYWAQSHLVTGYCTYLPFQRFDITQTPPAYINVLPGLPQYTSIYTPLASLSPEYQLPRSVPVVPSFVANDRADKNAAAYFEGHHLNAENVAGHQIASETQILEGSLGISVKSHCSTGDAHTVLSESNRNDEHCGNSNNKCEVIPESTSAVTNIPHVQMVAIQVSWNIIHQEVNTEPYNPFEERQGEISRIEKEHQVLQDQLQEVYENYEQIKLKGLEETRDLEEKLKRHLEENKISKTELDWFLQDLEREIKKWQQEKKEIQERLKSLKKKIKKVSNASEMYTQKNDGKEKEHELHLDQSLEISNTLTNEKMKIEEYIKKGKEDYEESHQRAVAAEVSVLENWKESEVYKLQIMESQAEAFLKKLGLISRDPAAYPDMESDIRSWELFLSNVTKEIEKAKSQFEEQIKAIKNGSRLSELSKVQISELSFPACNTVHPELLPESSGDDGQGLVTSASDVTGNHAALHRDPSVFSAGDSPGEAPSALLPGPPPGQPEATQLTGPKRAGQAALSERSPVADRKQPVPPGRAARSSQSPKKPFNSIIEHLSVVFPCYNSTELAGFIKKVRSKNKNSLSGLSIDEIVQRVTEHILDEQKKKKPNPGKDKRTYEPSSATPVTRSSQGSPSVVVAPSPKTKGQKAEDVPVRIALGASSCEICHEVFKSKNVRVLKCGHKYHKGCFKQWLKGQSACPACQGRDLLTEESPSGRGWPSQNQELPSCSSR", "length": 2043, "header": "tr|H7BZ57-1|H7BZ57_HUMAN Computationally mapped isoform of RING-type E3 ubiquitin transferase OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=2 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37201571, "end_pos": 37087258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000411496.2", "url": "https://www.ensembl.org/id/ENST00000411496.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000387880.2", "url": "https://www.ensembl.org/id/ENSP00000387880.2" } ] } }, { "isoform_ac": "H7C097-1", "url": "", "sequence": { "sequence": "XDPAAYPDMESDIRSWELFLSNVTKEIEKAKVHPELLPESSGDDGQGLVTSASDVTGNHAALHRDPSVFSAGDSPGEAPSALLPGPPPGQPEATQLTGPKRAGQAALSERSPVADRKQPVPPGRAARSSQSPKKPFNSIIEHLSVVFPCYNSTELAGFIKKVRSKNKNSLSGLSIDEIVQRVTEHILDEQKKKKPNPGKDKRTYEPSSATPVTRSSQGSPSVVVAPSPKTKGQKAEDVPVRIALGASSCEICHEVFKSKNVRVLKCGHKYHKGCFKQWLKGQSACPACQGRDLLTEESPSGRGWPSQNQELPSCSSR", "length": 317, "header": "tr|H7C097-1|H7C097_HUMAN Computationally mapped isoform of Tetratricopeptide repeat domain 3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37201573, "end_pos": 37191334, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000428693.1", "url": "https://www.ensembl.org/id/ENST00000428693.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000393681.1", "url": "https://www.ensembl.org/id/ENSP00000393681.1" } ] } }, { "isoform_ac": "H7C3Z1-1", "url": "", "sequence": { "sequence": "XTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSF", "length": 277, "header": "tr|H7C3Z1-1|TTC3_HUMAN Computationally mapped isoform of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=1 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37153277, "end_pos": 37144560, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000414818.1", "url": "https://www.ensembl.org/id/ENST00000414818.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000414658.1", "url": "https://www.ensembl.org/id/ENSP00000414658.1" } ] } }, { "isoform_ac": "P53804-1", "url": "", "sequence": { "sequence": "MDNFAEGDFTVADYALLEDCPHVDDCVFAAEFMSNDYVRVTQLYCDGVGVQYKDYIQSERNLEFDICSIWCSKPISVLQDYCDAIKINIFWPLLFQHQNSSVISRLHPCVDANNSRASEINLKKLQHLELMEDIVDLAKKVANDSFLIGGLLRIGCKIENKILAMEEALNWIKYAGDVTILTKLGSIDNCWPMLSIFFTEYKYHITKIVMEDCNLLEELKTQSCMDCIEEGELMKMKGNEEFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRNALGDGKRATILKNTWPKGHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYFSEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSGEAPFSSTKVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEFEALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPEETRQILEKAGGLKPFLLGCPRFVVIDNCIALKKVASRLKKKRKKKNIKTKVEEISKAGEYVRVKLQLNPAAREFKPDVKSKPVSDSSSAPAFENVKPKPVSANSPKPACEDVKAKPVSDNSSRQVSEDGQPKGVSSNSPKPGSEDANYKRVSCNSPKPVLEDVKPTYWAQSHLVTGYCTYLPFQRFDITQTPPAYINVLPGLPQYTSIYTPLASLSPEYQLPRSVPVVPSFVANDRADKNAAAYFEGHHLNAENVAGHQIASETQILEGSLGISVKSHCSTGDAHTVLSESNRNDEHCGNSNNKCEVIPESTSAVTNIPHVQMVAIQVSWNIIHQEVNTEPYNPFEERQGEISRIEKEHQVLQDQLQEVYENYEQIKLKGLEETRDLEEKLKRHLEENKISKTELDWFLQDLEREIKKWQQEKKEIQERLKSLKKKIKKVSNASEMYTQKNDGKEKEHELHLDQSLEISNTLTNEKMKIEEYIKKGKEDYEESHQRAVAAEVSVLENWKESEVYKLQIMESQAEAFLKKLGLISRDPAAYPDMESDIRSWELFLSNVTKEIEKAKSQFEEQIKAIKNGSRLSELSKVQISELSFPACNTVHPELLPESSGDDGQGLVTSASDVTGNHAALHRDPSVFSAGDSPGEAPSALLPGPPPGQPEATQLTGPKRAGQAALSERSPVADRKQPVPPGRAARSSQSPKKPFNSIIEHLSVVFPCYNSTELAGFIKKVRSKNKNSLSGLSIDEIVQRVTEHILDEQKKKKPNPGKDKRTYEPSSATPVTRSSQGSPSVVVAPSPKTKGQKAEDVPVRIALGASSCEICHEVFKSKNVRVLKCGHKYHKGCFKQWLKGQSACPACQGRDLLTEESPSGRGWPSQNQELPSCSSR", "length": 2025, "header": "sp|P53804-1|TTC3_HUMAN Isoform 1 of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=2 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37201571, "end_pos": 37087258, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399017.6", "url": "https://www.ensembl.org/id/ENST00000399017.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000381981.2", "url": "https://www.ensembl.org/id/ENSP00000381981.2" } ] } }, { "isoform_ac": "P53804-2", "url": "", "sequence": { "sequence": "MKMKGNEEFSKERFDIAIIYYTRAIEYRPENYLLYGNRALCFLRTGQFRNALGDGKRATILKNTWPKGHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYFSEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSGEAPFSSTKVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEFEALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPEETRQILEKAGGLKPFLLGCPRFVVIDNCIALKKVASRLKKKRKKKNIKTKVEEISKAGEYVRVKLQLNPAAREFKPDVKSKPVSDSSSAPAFENVKPKPVSANSPKPACEDVKAKPVSDNSSRQVSEDGQPKGVSSNSPKPGSEDANYKRVSCNSPKPVLEDVKPTYWAQSHLVTGYCTYLPFQRFDITQTPPAYINVLPGLPQYTSIYTPLASLSPEYQLPRSVPVVPSFVANDRADKNAAAYFEGHHLNAENVAGHQIASETQILEGSLGISVKSHCSTGDAHTVLSESNRNDEHCGNSNNKCEVIPESTSAVTNIPHVQMVAIQVSWNIIHQEVNTEPYNPFEERQGEISRIEKEHQVLQDQLQEVYENYEQIKLKGLEETRDLEEKLKRHLEENKISKTELDWFLQDLEREIKKWQQEKKEIQERLKSLKKKIKKVSNASEMYTQKNDGKEKEHELHLDQSLEISNTLTNEKMKIEEYIKKGKEDYEESHQRAVAAEVSVLENWKESEVYKLQIMESQAEAFLKKLGLISRDPAAYPDMESDIRSWELFLSNVTKEIEKAKSQFEEQIKAIKNGSRLSELSKVQISELSFPACNTVHPELLPESSGDDGQGLVTSASDVTGNHAALHRDPSVFSAGDSPGEAPSALLPGPPPGQPEATQLTGPKRAGQAALSERSPVADRKQPVPPGRAARSSQSPKKPFNSIIEHLSVVFPCYNSTELAGFIKKVRSKNKNSLSGLSIDEIVQRVTEHILDEQKKKKPNPGKDKRTYEPSSATPVTRSSQGSPSVVVAPSPKTKGQKAEDVPVRIALGASSCEICHEVFKSKNVRVLKCGHKYHKGCFKQWLKGQSACPACQGRDLLTEESPSGRGWPSQNQELPSCSSR", "length": 1792, "header": "sp|P53804-2|TTC3_HUMAN Isoform 2 of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=2 CANONICAL=P53804-1" }, "locus": {} }, { "isoform_ac": "P53804-3", "url": "", "sequence": { "sequence": "MLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHVKLQKQIEDLQGRTANKDPIKAFYENRAYTPRSLSAPIFTTSLNFVEKERDFRKINHEMANGGNQNLKVADEALKVDDCDCHPEFSPPSSQPPKHKGKQKSRNNESEKFSSSSPLTLPADLKNILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYMALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAISLLGIGQPEELSEAENQFKRIIEHYPSEGLDCLAYCGIGKVYLKKNRFLEALNHFEKARTLIYRLPGVLTWPTSNVIIEESQPQKIKMLLEKFVEECKFPPVPDAICCYQKCHGYSKIQIYITDPDFKGFIRISCCQYCKIEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGVISKIIIFSSGGEVKCEFEHKVIKEKVPPRPILKQKCSSLEKLRLKEDKKLKRKIQKKEAKKLAQERMEEDLRESNPPKNEEQKETVDNVQRCQFLDDRILQCIKQYADKIKSGIQNTAMLLKELLSWKVLSTEDYTTCFSSRNFLNEAVDYVIRHLIQENNRVKTRIFLHVLSELKEVEPKLAAWIQKLNSFGLDATGTFFSRYGASLKLLDFSIMTFLWNEKYGHKLDSIEGKQLDYFSEPASLKEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSGEAPFSSTKVKNKSKKKKPKDSKPMLVGSGTTSVTSNNEIITSSEDHSNRNSDSAGPFAVPDHLRQDVEEFEALYDQHSNEYVVRNKKLWDMNPKQKCSTLYDYFSQFLEEHGPLDMSNKMFSAEYEFFPEETRQILEKAGGLKPFLLGCPRFVVIDNCIALKKVASRLKKKRKKKNIKTKVEEISKAGEYVRVKLQLNPAAREFKPDVKSKPVSDSSSAPAFENVKPKPVSANSPKPACEDVKAKPVSDNSSRQVSEDGQPKGVSSNSPKPGSEDANYKRVSCNSPKPVLEDVKPTYWAQSHLVTGYCTYLPFQRFDITQTPPAYINVLPGLPQYTSIYTPLASLSPEYQLPRSVPVVPSFVANDRADKNAAAYFEGHHLNAENVAGHQIASETQILEGSLGISVKSHCSTGDAHTVLSESNRNDEHCGNSNNKCEVIPESTSAVTNIPHVQMVAIQVSWNIIHQEVNTEPYNPFEERQGEISRIEKEHQVLQDQLQEVYENYEQIKLKGLEETRDLEEKLKRHLEENKISKTELDWFLQDLEREIKKWQQEKKEIQERLKSLKKKIKKVSNASEMYTQKNDGKEKEHELHLDQSLEISNTLTNEKMKIEEYIKKGKEDYEESHQRAVAAEVSVLENWKESEVYKLQIMESQAEAFLKKLGLISRDPAAYPDMESDIRSWELFLSNVTKEIEKAKSQFEEQIKAIKNGSRLSELSKVQISELSFPACNTVHPELLPESSGDDGQGLVTSASDVTGNHAALHRDPSVFSAGDSPGEAPSALLPGPPPGQPEATQLTGPKRAGQAALSERSPVADRKQPVPPGRAARSSQSPKKPFNSIIEHLSVVFPCYNSTELAGFIKKVRSKNKNSLSGLSIDEIVQRVTEHILDEQKKKKPNPGKDKRTYEPSSATPVTRSSQGSPSVVVAPSPKTKGQKAEDVPVRIALGASSCEICHEVFKSKNVRVLKCGHKYHKGCFKQWLKGQSACPACQGRDLLTEESPSGRGWPSQNQELPSCSSR", "length": 1715, "header": "sp|P53804-3|TTC3_HUMAN Isoform 3 of E3 ubiquitin-protein ligase TTC3 OS=Homo sapiens OX=9606 GN=TTC3 PE=1 SV=2 CANONICAL=P53804-1" }, "locus": { "chromosome": "21", "start_pos": 37201571, "end_pos": 37121847, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000463216.6", "url": "https://www.ensembl.org/id/ENST00000463216.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000512893.1", "url": "https://www.ensembl.org/id/ENSP00000512893.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 1009, "end_pos": 1009, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "site_lbl": "Ser1009" }, { "start_pos": 1061, "end_pos": 1061, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "site_lbl": "Ser1061" }, { "start_pos": 1923, "end_pos": 1923, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P53804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53804" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "P53804", "url": "http://phospho.elm.eu.org/byAccession/P53804.html" } ], "site_lbl": "Ser1923" }, { "start_pos": 1924, "end_pos": 1924, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P53804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53804" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "P53804", "url": "http://phospho.elm.eu.org/byAccession/P53804.html" } ], "site_lbl": "Ser1924" }, { "start_pos": 1935, "end_pos": 1935, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P53804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53804" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "P53804", "url": "http://phospho.elm.eu.org/byAccession/P53804.html" } ], "site_lbl": "Ser1935" }, { "start_pos": 1938, "end_pos": 1938, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P53804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53804" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "phospho.ELM", "id": "P53804", "url": "http://phospho.elm.eu.org/byAccession/P53804.html" } ], "site_lbl": "Thr1938" }, { "start_pos": 378, "end_pos": 378, "kinase_uniprot_canonical_ac": "P31749-1", "kinase_gene_name": "AKT1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P53804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53804" }, { "database": "PubMed", "id": "20059950", "url": "https://glygen.org/publication/PubMed/20059950" } ], "site_lbl": "Ser378" }, { "start_pos": 378, "end_pos": 378, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKB/AKT2", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" }, { "database": "iPTMnet", "id": "P53804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53804" }, { "database": "PubMed", "id": "20059950", "url": "https://glygen.org/publication/PubMed/20059950" } ], "site_lbl": "Ser378" } ], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science", "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": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "P53804-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53804-1" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "The Down syndrome critical region protein TTC3 inhibits neuronal differentiation via RhoA and Citron kinase.", "journal": "J. Cell Sci.", "date": "2007", "authors": "Berto G, Camera P, Fusco C, Imarisio S, Ambrogio C, Chiarle R, Silengo L, Di Cunto F", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "reference": [ { "type": "PubMed", "id": "17488780", "url": "https://glygen.org/publication/PubMed/17488780" } ] }, { "title": "The E3 ligase TTC3 facilitates ubiquitination and degradation of phosphorylated Akt.", "journal": "Dev. Cell", "date": "2009", "authors": "Suizu F, Hiramuki Y, Okumura F, Matsuda M, Okumura AJ, Hirata N, Narita M, Kohno T, Yokota J, Bohgaki M, Obuse C, Hatakeyama S, Obata T, Noguchi M", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" }, { "database": "iPTMnet", "id": "P53804", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P53804" } ], "reference": [ { "type": "PubMed", "id": "20059950", "url": "https://glygen.org/publication/PubMed/20059950" } ] }, { "title": "The DCR protein TTC3 affects differentiation and Golgi compactness in neurons through specific actin-regulating pathways.", "journal": "PLoS ONE", "date": "2014", "authors": "Berto GE, Iobbi C, Camera P, Scarpa E, Iampietro C, Bianchi F, Gai M, Sgro F, Cristofani F, Gartner A, Dotti CG, Di Cunto F", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "reference": [ { "type": "PubMed", "id": "24695496", "url": "https://glygen.org/publication/PubMed/24695496" } ] }, { "title": "Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease.", "journal": "Neurol. Genet.", "date": "2016", "authors": "Kohli MA, Cukier HN, Hamilton-Nelson KL, Rolati S, Kunkle BW, Whitehead PL, Zuchner SL, Farrer LA, Martin ER, Beecham GW, Haines JL, Vance JM, Cuccaro ML, Gilbert JR, Schellenberg GD, Carney RM, Pericak-Vance MA", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "reference": [ { "type": "PubMed", "id": "27066578", "url": "https://glygen.org/publication/PubMed/27066578" } ] }, { "title": "Tetratricopeptide repeat domain 3 overexpression tends to form aggregates and inhibit ubiquitination and degradation of DNA polymerase gamma.", "journal": "Oncotarget", "date": "2017", "authors": "Gong Y., Wang X., Li W., Shang X., Shang Y., Dou F., Xiao S.P.", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "reference": [ { "type": "PubMed", "id": "29290964", "url": "https://glygen.org/publication/PubMed/29290964" } ] }, { "title": "Overexpressed TTC3 Protein Tends to be Cleaved into Fragments and Form Aggregates in the Nucleus.", "journal": "NeuroMolecular Med.", "date": "2019", "authors": "Gong Y, Wang K, Xiao SP, Mi P, Li W, Shang Y, Dou F", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" }, { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" }, { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" } ], "reference": [ { "type": "PubMed", "id": "30203323", "url": "https://glygen.org/publication/PubMed/30203323" } ] }, { "title": "TTC3 contributes to TGF-beta1-induced epithelial-mesenchymal transition and myofibroblast differentiation, potentially through SMURF2 ubiquitylation and degradation.", "journal": "Cell Death Dis.", "date": "2019", "authors": "Kim JH, Ham S, Lee Y, Suh GY, Lee YS", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" }, { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" }, { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" } ], "reference": [ { "type": "PubMed", "id": "30696809", "url": "https://glygen.org/publication/PubMed/30696809" } ] }, { "title": "Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer's disease risk variant p.S1038C in the TTC3 gene.", "journal": "Stem cell research", "date": "2021", "authors": "Laverde-Paz MJ, Nuytemans K, Wang L, Vance JM, Pericak-Vance MA, Dykxhoorn DM, Cukier HN", "evidence": [ { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" }, { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" } ], "reference": [ { "type": "PubMed", "id": "33626494", "url": "https://glygen.org/publication/PubMed/33626494" } ] }, { "title": "TTC3-Mediated Protein Quality Control, A Potential Mechanism for Cognitive Impairment.", "journal": "Cellular and molecular neurobiology", "date": "2022", "authors": "Zhou X, Chen X, Hong T, Zhang M, Cai Y, Cui L", "evidence": [ { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" }, { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" } ], "reference": [ { "type": "PubMed", "id": "33638766", "url": "https://glygen.org/publication/PubMed/33638766" } ] }, { "title": "An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons.", "journal": "Neurobiology of aging", "date": "2023-11", "authors": "Cukier Holly N, Duarte Carolina L, Laverde-Paz Mayra J, Simon Shaina A, Van Booven Derek J, Miyares Amanda T, Whitehead Patrice L, Hamilton-Nelson Kara L, Adams Larry D, Carney Regina M, Cuccaro Michael L, Vance Jeffery M, Pericak-Vance Margaret A, Griswold Anthony J, Dykxhoorn Derek M", "evidence": [ { "database": "RefSeq", "id": "NP_001307633", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001307633" }, { "database": "RefSeq", "id": "NP_001001894", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001894" } ], "reference": [ { "type": "PubMed", "id": "37677864", "url": "https://glygen.org/publication/PubMed/37677864" } ] }, { "title": "Identification of a novel human gene containing the tetratricopeptide repeat domain from the Down syndrome region of chromosome 21.", "journal": "DNA Res.", "date": "1996", "authors": "Nagase T., Nomura N., Ohira M., Ohki M., Seki N., Ichikawa H., Suzuki E., Ootsuyama A.", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "reference": [ { "type": "PubMed", "id": "8724848", "url": "https://glygen.org/publication/PubMed/8724848" } ] }, { "title": "Identification and cloning of a novel cDNA belonging to tetratricopeptide repeat gene family from Down syndrome-critical region 21q22.2.", "journal": "J. Biochem.", "date": "1996", "authors": "Tsukahara F, Hattori M, Muraki T, Sakaki Y", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "reference": [ { "type": "PubMed", "id": "8947847", "url": "https://glygen.org/publication/PubMed/8947847" } ] }, { "title": "Cloning and characterization of novel gene, DCRR1, expressed from Down's syndrome critical region of human chromosome 21q22.2.", "journal": "DNA Seq.", "date": "1997", "authors": "Abe M., Ahmad I., Murakami Y., Hanaoka F., Eki T., Kawashima K., Nohata J., Naitou M., Sasanuma S.I.", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "reference": [ { "type": "PubMed", "id": "9254009", "url": "https://glygen.org/publication/PubMed/9254009" } ] }, { "title": "Transcriptional map of the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down syndrome.", "journal": "Genomics", "date": "1998", "authors": "Dahmane N, Ghezala GA, Gosset P, Chamoun Z, Dufresne-Zacharia MC, Lopes C, Rabatel N, Gassanova-Maugenre S, Chettouh Z, Abramowski V, Fayet E, Yaspo ML, Korn B, Blouin JL, Lehrach H, Poutska A, Antonarakis SE, Sinet PM, Creau N, Delabar JM", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "reference": [ { "type": "PubMed", "id": "9503011", "url": "https://glygen.org/publication/PubMed/9503011" } ] } ], "pathway": [ { "id": "hsa:7267", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7267", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3ZSP7-1", "protein_name": "E3 ubiquitin-protein ligase TTC3", "gene_name": "Ttc3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MPGHRGAPHLPPWVCGLCSMDDFAEGGLSLADDILLEDYPYEDDCICTPDFTTDDYVRVTQLYYEGVGMQYKDYAQSEKNLEYDICNIWCSKPLSILQDYCDAIKLYIFWPLLFQHQHSSIISRLHPCVEAIRSRAAEISLKKLQHLELMEDIVDLAKKVANDSFLIEGLLKIGYKIENKILAMEDALNWIKYTGDVTILPKLGSVDSGWPMLSIFFTEYKYHITRVVTENCNLLEEFRRHSCMQCVKQGELMKMRGNEEFAKEKFEIAVIYYTRAIEYRPENHLLYGNRALCFLRMGQFRNALSDGKRAIVLKNTWPKGHYRYCDALSMLGEYDWALQANIKAQKLCKNDPEGIKDLIQQHIKLQKQIEDLQGRTSNRNPIKAFYESRAYIPRNSSAPAFRTSLNFVETERGFRKTKYRMANGGGHQNQKVADEALKGDDCDCHPEFLPPPSQPPRHKGKQKSRNNESEKPSSNSQVTLQVDLKSILEKQFSKSSRAAHQDFANIMKMLRSLIQDGYTALLEQRCRSAAQAFTELLNGLDPQKIKQLNLAMINYVLVVYGLAVSLLGIGRPEELSEAENQFKRIIEHYPNEGLDCLAYCGIGKVYLKKNRFLEALNHFEKAKTLICRLPGILTWPTSNVIIEESKPEKVKVMLEKFVEECKFPPVPDAVCCYQKCRGFSKIQIYLTDPDFKGFIRISCCQYCKVEFHMNCWKKLKTTTFNDKIDKDFLQGICLTPDCEGIISKIIIFSSGGQVKCEFEHKVVKEKAPSRPVLKQKCSSLEKLRLKEDKKLKRKIQKQEAKKLAQERMEEDLRESNPPKPEEPEETVESAQSCQFLDDRILQCIKQNADKIKSVVLNTSTLLKELLSWKVLSTEDYTTCFSSKNFVHEAVDYVIGHLIQEKNRVKTRIFLHVLSELKELDPKLAPWIQRLNSFGLDATGPFFTRYGASLKELDFNIVTFLWSEKYGHKLGSIEGKQLDYFCEPASVMEARCLIWLLEEHRDKFPALHSALDEFFDIMDSRCTVLRKQDSDEMPFGCIKVKNKGKKKKPKDSKPMLVGSGTASVTPSSETVTPEDHNRRNSDSAGPFAVPDHLRQDVEEFEALYDQHSSEYVVRNKKLWDINPKQKCSTLYDYFSQLLEEHGPLDMSDRMFSEEYEFFPEETRQILEKAGGLKSFLLGCPRFVVIDNCIALKKVASRLKKKRKKKNIKTKVEEISKTGEYLRVKLPLNPTAREFQPDVKSEAAAEDVTSIPGPADSSAPAAEDLKPQLDSDSSSGSASEDSRLEVVSPDLPTPLCEDASPSPTPAPEDAKPTYWTQSHLVTGFCTYLPFQGFGIAQSRPAYINMVPSLSQFTSIYTPLANISSEYPMPRSMPVVPSFVASERADGNAAAYFESHRLNTENASDDHTASETQILEGPLGMCVKSQSSTADARTALSEPEGNSRHSGSSDSLWEASLENVSGITDVPPAPSVAIQVSRSLIHQEVNTEPYAPFERQQGDLSQKEKECHLLREQLQVACEECEQMELRSSQETRDLEEKLQRHAEENKVSLPELQWALGKLDREIKKWHQEKKEIQERLKALKKKIKKVINTSDMSAQKNDGLDKECESQPDQSLGISSALTDEKAKVEESVRKGKELYEESQQRAVAAEVSVLENWKEREVCKLQGVATQAEACLKSLKLMNSDSAAYPDVECDILSWETFLSTVTEEIENTKCQFEEQIKAIKSGSRLSDLSSVQVSELLFPACSMIHPQLLSESSRHEDHGLVACVDSMTGAVLNDPYVGPDSGCSEEVPELSLGSPTHHPEGAQQLEVKKASQVSPSEQNPEADEKPSGQATRSSQSQKNPFNSIIEHLSVIFPCYASSELSGFIKKVRNKSKNSFSGLSIEEIVERVTEHIVEEQKKKKPNPGKDKKTSEAHPAASVSKSSPSPPLAAAGPSAKTKGQKKDDVPAPDGNSCQICHEIFKSKNMRVLKCGHKFHKGCFKQWLKGQSTCPTCGSSDLLSEE", "length": 2000 }, "evidence": [ { "id": "45235456", "url": "http://www.informatics.jax.org/homology/45235456", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "O88196-1", "protein_name": "E3 ubiquitin-protein ligase TTC3", "gene_name": "Ttc3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"length": 1979 }, "evidence": [ { "id": "45235456", "url": "http://www.informatics.jax.org/homology/45235456", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "pmid": "" }, { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "pmid": "" }, { "name": "nucleolus", "id": "GO:0005730", "url": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0016567", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "pmid": "" }, { "name": "ubiquitin-dependent protein catabolic process", "id": "GO:0006511", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006511", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "pmid": "" }, { "name": "protein K48-linked ubiquitination", "id": "GO:0070936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070936", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P53804", "url": "https://www.uniprot.org/uniprot/P53804" } ], "pmid": "" }, { "name": "ubiquitin-protein 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