{ "uniprot_canonical_ac": "O75165-1", "uniprot_ac": "O75165", "uniprot_id": "DJC13_HUMAN", "mass": { "chemical_mass": 254415.0, "monoisotopic_mass": 254415.0 }, "refseq": { "ac": "NP_056083", "name": "dnaJ homolog subfamily C member 13 isoform 2", "summary": "This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" }, "gene_names": [ { "name": "DNAJC13", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75165", "id": "O75165" }, { "name": "DNAJC13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083", "id": "NP_056083" }, { "name": "KIAA0678", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75165", "id": "O75165" }, { "name": "PARK21; RME8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083", "id": "NP_056083" }, { "name": "RME8", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75165", "id": "O75165" } ], "protein_names": [ { "name": "DnaJ homolog subfamily C member 13", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75165" }, { "name": "RME-8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75165" }, { "name": "Required for receptor-mediated endocytosis 8", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75165" }, { "name": "dnaJ homolog subfamily C member 13 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083", "id": "NP_056083" }, { "name": "dnaJ homolog subfamily C member 13; DnaJ domain-containing protein RME-8; required for receptor-mediated endocytosis 8; DnaJ (Hsp40) homolog, subfamily C, member 13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083", "id": "NP_056083" } ], "function": [ { "annotation": "Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" }, { "database": "PubMed", "id": "33239198", "url": "https://glygen.org/publication/PubMed/33239198" } ] }, { "annotation": "Involved in membrane trafficking through early endosomes, such as the early endosome to recycling endosome transport implicated in the recycling of transferrin and the early endosome to late endosome transport implicated in degradation of EGF and EGFR (PubMed:18256511, PubMed:18307993). Involved in the regulation of endosomal membrane tubulation and regulates the dynamics of SNX1 on the endosomal membrane; via association with WASHC2 may link the WASH complex to the retromer SNX-BAR subcomplex (PubMed:24643499).", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165#function" }, { "database": "PubMed", "id": "24643499", "url": "https://glygen.org/publication/PubMed/24643499" }, { "database": "PubMed", "id": "18256511", "url": "https://glygen.org/publication/PubMed/18256511" }, { "database": "PubMed", "id": "18307993", "url": "https://glygen.org/publication/PubMed/18307993" } ] }, { "annotation": "Parkinson's disease-linked DNAJC13 mutation perturbs multi-directional endosomal trafficking, resulting in the aberrant endosomal retention of alpha-synuclein, which might predispose to the neurodegenerative process that leads to Parkinson's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" }, { "database": "PubMed", "id": "29309590", "url": "https://glygen.org/publication/PubMed/29309590" } ] }, { "annotation": "RME-8 functions in intracellular trafficking and provides the first evidence of a functional role for a DnaJ domain-bearing co-chaperone on endosomes", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" }, { "database": "PubMed", "id": "16179350", "url": "https://glygen.org/publication/PubMed/16179350" } ] }, { "annotation": "Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive modulator of autophagy and stabilizes cellular protein homeostasis.", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" }, { "database": "PubMed", "id": "32322926", "url": "https://glygen.org/publication/PubMed/32322926" } ] }, { "annotation": "This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" } ] }, { "annotation": "This study showed the DNAJC13 mutation screening in patients with Parkinson's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" }, { "database": "PubMed", "id": "29887357", "url": "https://glygen.org/publication/PubMed/29887357" } ] } ], "disease": [ { "disease_id": "DOID:0060892", "recommended_name": { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson's disease", "description": "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age." }, "synonyms": [ { "id": "DOID:0060892", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060892", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, age of onset, modifier, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, late-onset, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "Parkinson disease, susceptibility to, Multifactorial", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "autosomal dominant late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "hereditary late-onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late onset Parkinson's disease", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "" }, { "id": "MIM:168600", "resource": "MIM", "url": "https://www.omim.org/entry/168600", "name": "Parkinson disease", "description": "Parkinson disease" } ], "evidence": [ { "id": "168600", "database": "MIM", "url": "https://www.omim.org/entry/168600" } ] }, { "disease_id": "DOID:14330", "recommended_name": { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson's disease", "description": "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions." }, "synonyms": [ { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "Parkinson disease", "description": "" }, { "id": "DOID:14330", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14330", "name": "paralysis agitans", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "late-onset Parkinson disease", "description": "A Parkinson disease that begins after around the age of 50." }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "LOPD", "description": "" }, { "id": "MONDO:0008199", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008199", "name": "PARK", "description": "" }, { "id": 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"https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376397501" }, { "id": "rs376397501", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs376397501" }, { "id": "rs376397501", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs376397501#frequency_tab" }, { "id": "rs376397501", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs376397501" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 117, "end_pos": 117, "sequence_org": "Y", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCY->NCS).", "chr_id": "3", "chr_pos": "132450660", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75165", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75165" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer", "description": "A primary or metastatic malignant neoplasm involving the cervix." }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumor of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "tumour of the cervix uteri", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "uterine cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cancer of uterine cervix", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervical cancer, somatic", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "cervix uteri cancer", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervical tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix tumour", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri neoplasm", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumor", "description": "" }, { "id": "MONDO:0002974", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0002974", "name": "malignant cervix uteri tumour", "description": "" 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"database": "Bgee", "id": "ENSG00000138246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138246" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138246" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "89.41", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000138246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138246" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75165", "url": 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"" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": 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"" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75165" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75165" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75165" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75165" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75165", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75165" } ], "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": 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Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "common_name": "Human" } ], "gene": [ { "name": "DNAJC13", "url": "https://www.uniprot.org/uniprot/O75165", "locus": { "chromosome": "3", "start_pos": 132539032, "end_pos": 132417502, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000138246", "url": "https://www.ensembl.org/id/ENSG00000138246" } ] } } ], "crossref": [ { "id": "ENSG00000138246", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138246", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75165", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75165", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd06257", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd06257", "database": "CDD", 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"https://www.ebi.ac.uk/interpro/entry/IPR016024", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR025640", "url": "https://www.ebi.ac.uk/interpro/entry/IPR025640", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035445", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035445", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036869", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036869", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR044978", "url": "https://www.ebi.ac.uk/interpro/entry/IPR044978", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR045802", "url": "https://www.ebi.ac.uk/interpro/entry/IPR045802", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23317", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23317", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "168600", "url": "http://www.omim.org/entry/168600", "database": "MIM", "categories": [ "Other" ] }, { "id": "614334", "url": "http://www.omim.org/entry/614334", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75165", "url": "https://www.nextprot.org/entry/NX_O75165", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75165", "url": "https://oglcnac.org/atlas/detail/O75165", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75165", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75165", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ELRPYKY", "url": "https://omabrowser.org/oma/group/ELRPYKY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "69840at2759", "url": "http://www.orthodb.org/?query=69840at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR36983", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR36983", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR36983:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR36983:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00226", "url": "http://pfam.xfam.org/family/PF00226", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF14237", "url": "http://pfam.xfam.org/family/PF14237", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF19432", "url": "http://pfam.xfam.org/family/PF19432", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75165", "url": "https://pharos.nih.gov/targets/O75165", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75165", "url": "http://purl.obolibrary.org/obo/PR_O75165", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A3B3IRM0", "url": "https://www.uniprot.org/uniprot/A0A3B3IRM0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A3B3IRM0-1", "url": "https://www.uniprot.org/uniprot/A0A3B3IRM0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y8Q2", "url": "https://www.uniprot.org/uniprot/H0Y8Q2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0Y8Q2-1", "url": "https://www.uniprot.org/uniprot/H0Y8Q2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YA63", "url": "https://www.uniprot.org/uniprot/H0YA63", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H0YA63-1", "url": "https://www.uniprot.org/uniprot/H0YA63-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75165-1", "url": "https://www.uniprot.org/uniprot/O75165-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MNIIRENKDLACFYTTKHSWRGKYKRVFSVGTHAITTYNPNTLEVTNQWPYGDICSISPVGKGQGTEFNLTFRKGSGKKSETLKFSTEHRTELLTEALRFRTDFSEGKITGRRYNCYKHHWSDSRKPVILEVTPGGFDQINPATNRVLCSYDYRNIEGFVDLSDYQGGFCILYGGFSRLHLFASEQREEIIKSAIDHAGNYIGISLRIRKEPLEFEQYLNLRFGKYSTDESITSLAEFVVQKISPRHSEPVKRVLALTETCLVERDPATYNIATLKPLGEVFALVCDSENPQLFTIEFIKGQVRKYSSTERDSLLASLLDGVRASGNRDVCVKMTPTHKGQRWGLLSMPVDEEVESLHLRFLATPPNGNFADAVFRFNANISYSGVLHAVTQDGLFSENKEKLINNAITALLSQEGDVVASNAELESQFQAVRRLVASKAGFLAFTQLPKFRERLGVKVVKALKRSNNGIIHAAVDMLCALMCPMHDDYDLRQEQLNKASLLSSKKFLENLLEKFNSHVDHGTGALVISSLLDFLTFALCAPYSETTEGQQFDMLLEMVASNGRTLFKLFQHPSMAIIKGAGLVMKAIIEEGDKEIATKMQELALSEGALPRHLHTAMFTISSDQRMLTNRQLSRHLVGLWTADNATATNLLKRILPPGLLAYLESSDLVPEKDADRMHVRDNVKIAMDQYGKFNKVPEWQRLAGKAAKEVEKFAKEKVDLVLMHWRDRMGIAQKENINQKPVVLRKRRQRIKIEANWDLFYYRFGQDHARSNLIWNFKTREELKDTLESEMRAFNIDRELGSANVISWNHHEFEVKYECLAEEIKIGDYYLRLLLEEDENEESGSIKRSYEFFNELYHRFLLTPKVNMKCLCLQALAIVYGRCHEEIGPFTDTRYIIGMLERCTDKLERDRLILFLNKLILNKKNVKDLMDSNGIRILVDLLTLAHLHVSRATVPLQSNVIEAAPDMKRESEKEWYFGNADKERSGPYGFHEMQELWTKGMLNAKTRCWAQGMDGWRPLQSIPQLKWCLLASGQAVLNETDLATLILNMLITMCGYFPSRDQDNAIIRPLPKVKRLLSDSTCLPHIIQLLLTFDPILVEKVAILLYHIMQDNPQLPRLYLSGVFFFIMMYTGSNVLPVARFLKYTHTKQAFKSEETKGQDIFQRSILGHILPEAMVCYLENYEPEKFSEIFLGEFDTPEAIWSSEMRRLMIEKIAAHLADFTPRLQSNTRALYQYCPIPIINYPQLENELFCNIYYLKQLCDTLRFPDWPIKDPVKLLKDTLDAWKKEVEKKPPMMSIDDAYEVLNLPQGQGPHDESKIRKAYFRLAQKYHPDKNPEGRDMFEKVNKAYEFLCTKSAKIVDGPDPENIILILKTQSILFNRHKEDLQPYKYAGYPMLIRTITMETSDDLLFSKESPLLPAATELAFHTVNCSALNAEELRRENGLEVLQEAFSRCVAVLTRASKPSDMSVQVCGYISKCYSVAAQFEECREKITEMPSIIKDLCRVLYFGKSIPRVAALGVECVSSFAVDFWLQTHLFQAGILWYLLGFLFNYDYTLEESGIQKSEETNQQEVANSLAKLSVHALSRLGGYLAEEQATPENPTIRKSLAGMLTPYVARKLAVASVTEILKMLNSNTESPYLIWNNSTRAELLEFLESQQENMIKKGDCDKTYGSEFVYSDHAKELIVGEIFVRVYNEVPTFQLEVPKAFAASLLDYIGSQAQYLHTFMAITHAAKVESEQHGDRLPRVEMALEALRNVIKYNPGSESECIGHFKLIFSLLRVHGAGQVQQLALEVVNIVTSNQDCVNNIAESMVLSSLLALLHSLPSSRQLVLETLYALTSSTKIIKEAMAKGALIYLLDMFCNSTHPQVRAQTAELFAKMTADKLIGPKVRITLMKFLPSVFMDAMRDNPEAAVHIFEGTHENPELIWNDNSRDKVSTTVREMMLEHFKNQQDNPEANWKLPEDFAVVFGEAEGELAVGGVFLRIFIAQPAWVLRKPREFLIALLEKLTELLEKNNPHGETLETLTMATVCLFSAQPQLADQVPPLGHLPKVIQAMNHRNNAIPKSAIRVIHALSENELCVRAMASLETIGPLMNGMKKRADTVGLACEAINRMFQKEQSELVAQALKADLVPYLLKLLEGIGLENLDSPAATKAQIVKALKAMTRSLQYGEQVNEILCRSSVWSAFKDQKHDLFISESQTAGYLTGPGVAGYLTAGTSTSVMSNLPPPVDHEAGDLGYQT", "length": 2243, "header": "sp|O75165-1|DJC13_HUMAN Isoform 1 of DnaJ homolog subfamily C member 13 OS=Homo sapiens OX=9606 GN=DNAJC13 PE=1 SV=5 CANONICAL=O75165-1" }, "isoforms": [ { "isoform_ac": "A0A3B3IRM0-1", "url": "", "sequence": { "sequence": "MNIIRENKDLACFYTTKHSWRGKYKRVFSVGTHAITTYNPNTLEVTNQWPYGDICSISPVGKGQGTEFNLTFRKGSGKKSETLKFSTEHRTELLTEALRFRTDFSEGKITGRRYNCYKHHWSDSRKPVILEVTPGGFDQINPATNRVLCSYDYRNIEGFVDLSDYQGGFCILYGGFSRLHLFASEQREEIIKSAIDHAGNYIGISLRIRKEPLEFEQYLNLRFGKYSTDESITSLAEFVVQKISPRHSEPVKRVLALTETCLVERDPATYNIATLKPLGEVFALVCDSENPQLFTIEFIKGQVRKYSSTERDSLLASLLDGVRASGNRDVCVKMTPTHKGQRWGLLSMPVDEEVESLHLRFLATPPNGNFADAVFRFNANISYSGVLHAVTQDGLFSENKEKLINNAITALLSQEGDVVASNAELESQFQAVRRLVASKAGFLAFTQLPKFRERLGVKVVKALKRSNNGIIHAAVDMLCALMCPMHDDYDLRQEQLNKASLLSSKKFLENLLEKFNSHVDHGTGALVISSLLDFLTFALCAPYSETTEGQQFDMLLEMVASNGRTLFKLFQHPSMAIIKGAGLVMKAIIEEGDKEIATKMQELALSEGALPRHLHTAMFTISSDQRMLTNS", "length": 631, "header": "tr|A0A3B3IRM0-1|A0A3B3IRM0_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member C13 OS=Homo sapiens OX=9606 GN=DNAJC13 PE=1 SV=1 CANONICAL=O75165-1" }, "locus": { "chromosome": "3", "start_pos": 132465951, "end_pos": 132434551, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650455.1", "url": "https://www.ensembl.org/id/ENST00000650455.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496825.1", "url": "https://www.ensembl.org/id/ENSP00000496825.1" } ] } }, { "isoform_ac": "H0Y8Q2-1", "url": "", "sequence": { "sequence": "CTDKLERDRLILFLNKLILNKKNVKDLMDSNGIRILVDLLTLAHLHVSRATVPLQSNVIEAAPDMKRESEKEWYFGNADKERSGPYGFHEMQELWTKGMLNAKTRCWAQGMDGWRPLQSIPQLKWCLLASGQAVLNETDLATLILNMLITMCGYFPSRVLFFKEILWKEMKSY", "length": 173, "header": "tr|H0Y8Q2-1|H0Y8Q2_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member C13 OS=Homo sapiens OX=9606 GN=DNAJC13 PE=1 SV=1 CANONICAL=O75165-1" }, "locus": { "chromosome": "3", "start_pos": 132484408, "end_pos": 132479227, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000506813.1", "url": "https://www.ensembl.org/id/ENST00000506813.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000421735.1", "url": "https://www.ensembl.org/id/ENSP00000421735.1" } ] } }, { "isoform_ac": "H0YA63-1", "url": "", "sequence": { "sequence": "XLVPYLLKLLEGIGLENLDSPAATKAQIVKALKAMTRSLQYGEQVNEILCRSSVWSAFKDQKHDLFISESQTAGYLTGVSPSLLTGSSPLHLRSGL", "length": 96, "header": "tr|H0YA63-1|H0YA63_HUMAN Computationally mapped isoform of DnaJ heat shock protein family (Hsp40) member C13 OS=Homo sapiens OX=9606 GN=DNAJC13 PE=1 SV=1 CANONICAL=O75165-1" }, "locus": { "chromosome": "3", "start_pos": 132537214, "end_pos": 132528202, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509279.1", "url": "https://www.ensembl.org/id/ENST00000509279.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000426240.1", "url": "https://www.ensembl.org/id/ENSP00000426240.1" } ] } }, { "isoform_ac": "O75165-1", "url": "", "sequence": { "sequence": "MNIIRENKDLACFYTTKHSWRGKYKRVFSVGTHAITTYNPNTLEVTNQWPYGDICSISPVGKGQGTEFNLTFRKGSGKKSETLKFSTEHRTELLTEALRFRTDFSEGKITGRRYNCYKHHWSDSRKPVILEVTPGGFDQINPATNRVLCSYDYRNIEGFVDLSDYQGGFCILYGGFSRLHLFASEQREEIIKSAIDHAGNYIGISLRIRKEPLEFEQYLNLRFGKYSTDESITSLAEFVVQKISPRHSEPVKRVLALTETCLVERDPATYNIATLKPLGEVFALVCDSENPQLFTIEFIKGQVRKYSSTERDSLLASLLDGVRASGNRDVCVKMTPTHKGQRWGLLSMPVDEEVESLHLRFLATPPNGNFADAVFRFNANISYSGVLHAVTQDGLFSENKEKLINNAITALLSQEGDVVASNAELESQFQAVRRLVASKAGFLAFTQLPKFRERLGVKVVKALKRSNNGIIHAAVDMLCALMCPMHDDYDLRQEQLNKASLLSSKKFLENLLEKFNSHVDHGTGALVISSLLDFLTFALCAPYSETTEGQQFDMLLEMVASNGRTLFKLFQHPSMAIIKGAGLVMKAIIEEGDKEIATKMQELALSEGALPRHLHTAMFTISSDQRMLTNRQLSRHLVGLWTADNATATNLLKRILPPGLLAYLESSDLVPEKDADRMHVRDNVKIAMDQYGKFNKVPEWQRLAGKAAKEVEKFAKEKVDLVLMHWRDRMGIAQKENINQKPVVLRKRRQRIKIEANWDLFYYRFGQDHARSNLIWNFKTREELKDTLESEMRAFNIDRELGSANVISWNHHEFEVKYECLAEEIKIGDYYLRLLLEEDENEESGSIKRSYEFFNELYHRFLLTPKVNMKCLCLQALAIVYGRCHEEIGPFTDTRYIIGMLERCTDKLERDRLILFLNKLILNKKNVKDLMDSNGIRILVDLLTLAHLHVSRATVPLQSNVIEAAPDMKRESEKEWYFGNADKERSGPYGFHEMQELWTKGMLNAKTRCWAQGMDGWRPLQSIPQLKWCLLASGQAVLNETDLATLILNMLITMCGYFPSRDQDNAIIRPLPKVKRLLSDSTCLPHIIQLLLTFDPILVEKVAILLYHIMQDNPQLPRLYLSGVFFFIMMYTGSNVLPVARFLKYTHTKQAFKSEETKGQDIFQRSILGHILPEAMVCYLENYEPEKFSEIFLGEFDTPEAIWSSEMRRLMIEKIAAHLADFTPRLQSNTRALYQYCPIPIINYPQLENELFCNIYYLKQLCDTLRFPDWPIKDPVKLLKDTLDAWKKEVEKKPPMMSIDDAYEVLNLPQGQGPHDESKIRKAYFRLAQKYHPDKNPEGRDMFEKVNKAYEFLCTKSAKIVDGPDPENIILILKTQSILFNRHKEDLQPYKYAGYPMLIRTITMETSDDLLFSKESPLLPAATELAFHTVNCSALNAEELRRENGLEVLQEAFSRCVAVLTRASKPSDMSVQVCGYISKCYSVAAQFEECREKITEMPSIIKDLCRVLYFGKSIPRVAALGVECVSSFAVDFWLQTHLFQAGILWYLLGFLFNYDYTLEESGIQKSEETNQQEVANSLAKLSVHALSRLGGYLAEEQATPENPTIRKSLAGMLTPYVARKLAVASVTEILKMLNSNTESPYLIWNNSTRAELLEFLESQQENMIKKGDCDKTYGSEFVYSDHAKELIVGEIFVRVYNEVPTFQLEVPKAFAASLLDYIGSQAQYLHTFMAITHAAKVESEQHGDRLPRVEMALEALRNVIKYNPGSESECIGHFKLIFSLLRVHGAGQVQQLALEVVNIVTSNQDCVNNIAESMVLSSLLALLHSLPSSRQLVLETLYALTSSTKIIKEAMAKGALIYLLDMFCNSTHPQVRAQTAELFAKMTADKLIGPKVRITLMKFLPSVFMDAMRDNPEAAVHIFEGTHENPELIWNDNSRDKVSTTVREMMLEHFKNQQDNPEANWKLPEDFAVVFGEAEGELAVGGVFLRIFIAQPAWVLRKPREFLIALLEKLTELLEKNNPHGETLETLTMATVCLFSAQPQLADQVPPLGHLPKVIQAMNHRNNAIPKSAIRVIHALSENELCVRAMASLETIGPLMNGMKKRADTVGLACEAINRMFQKEQSELVAQALKADLVPYLLKLLEGIGLENLDSPAATKAQIVKALKAMTRSLQYGEQVNEILCRSSVWSAFKDQKHDLFISESQTAGYLTGPGVAGYLTAGTSTSVMSNLPPPVDHEAGDLGYQT", "length": 2243, "header": "sp|O75165-1|DJC13_HUMAN Isoform 1 of DnaJ homolog subfamily C member 13 OS=Homo sapiens OX=9606 GN=DNAJC13 PE=1 SV=5 CANONICAL=O75165-1" }, "locus": { "chromosome": "3", "start_pos": 132538279, "end_pos": 132434551, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000260818.11", "url": "https://www.ensembl.org/id/ENST00000260818.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000260818.6", "url": "https://www.ensembl.org/id/ENSP00000260818.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 2167, "start_aa": "Thr", "end_pos": 2167, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr2167", "evidence": [ { "id": "O75165", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75165" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "O75165", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75165" } ] } ], "phosphorylation": [ { "start_pos": 102, "end_pos": 102, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75165" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Thr102" }, { "start_pos": 1843, "end_pos": 1843, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O75165", "url": "http://phospho.elm.eu.org/byAccession/O75165.html" }, { "database": "iPTMnet", "id": "O75165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75165" }, { "database": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ], "site_lbl": "Ser1843" }, { "start_pos": 2151, "end_pos": 2151, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75165" }, { "database": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ], "site_lbl": "Ser2151" }, { "start_pos": 82, "end_pos": 82, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75165" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ], "site_lbl": "Thr82" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O75165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75165" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "The DnaJ-domain protein RME-8 functions in endosomal trafficking.", "journal": "J. Biol. Chem.", "date": "2005", "authors": "Girard M, Poupon V, Blondeau F, McPherson PS", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" }, { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" } ], "reference": [ { "type": "PubMed", "id": "16179350", "url": "https://glygen.org/publication/PubMed/16179350" } ] }, { "title": "Human RME-8 is involved in membrane trafficking through early endosomes.", "journal": "Cell structure and function", "date": "2008", "authors": "Fujibayashi Akemi, Taguchi Tomohiko, Misaki Ryo, Ohtani Masashi, Dohmae Naoshi, Takio Koji, Yamada Masashi, Gu Jianguo, Yamakami Megumi, Fukuda Mitsunori, Waguri Satoshi, Uchiyama Yasuo, Yoshimori Tamotsu, Sekiguchi Kiyotoshi", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "reference": [ { "type": "PubMed", "id": "18256511", "url": "https://glygen.org/publication/PubMed/18256511" } ] }, { "title": "RME-8 regulates trafficking of the epidermal growth factor receptor.", "journal": "FEBS letters", "date": "2008-03-19", "authors": "Girard Martine, McPherson Peter S", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "reference": [ { "type": "PubMed", "id": "18307993", "url": "https://glygen.org/publication/PubMed/18307993" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Molecular cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "iPTMnet", "id": "O75165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75165" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.", "journal": "Analytical chemistry", "date": "2009", "authors": "Gauci S, Helbig AO, Slijper M, Krijgsveld J, Heck AJ, Mohammed S", "evidence": [ { "database": "iPTMnet", "id": "O75165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75165" } ], "reference": [ { "type": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" } ] }, { "title": "Lysine acetylation targets protein complexes and co-regulates major cellular functions.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "reference": [ { "type": "PubMed", "id": "19608861", "url": "https://glygen.org/publication/PubMed/19608861" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O75165", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75165" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "DNAJC13 mutations in Parkinson disease.", "journal": "Human molecular genetics", "date": "2014", "authors": "Vilarino-Guell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "reference": [ { "type": "PubMed", "id": "24218364", "url": "https://glygen.org/publication/PubMed/24218364" } ] }, { "title": "RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation.", "journal": "Journal of cell science", "date": "2014-05-01", "authors": "Freeman Caroline L, Hesketh Geoffrey, Seaman Matthew N J", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "reference": [ { "type": "PubMed", "id": "24643499", "url": "https://glygen.org/publication/PubMed/24643499" } ] }, { "title": "DNAJC13 genetic variants in parkinsonism.", "journal": "Movement disorders : official journal of the Movement Disorder Society", "date": "2015", "authors": "Gustavsson EK, Trinh J, Guella I, Vilarino-Guell C, Appel-Cresswell S, Stoessl AJ, Tsui JK, McKeown M, Rajput A, Rajput AH, Aasly JO, Farrer MJ", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "reference": [ { "type": "PubMed", "id": "25393719", "url": "https://glygen.org/publication/PubMed/25393719" } ] }, { "title": "Identification of TMEM230 mutations in familial Parkinson's disease.", "journal": "Nat. Genet.", "date": "2016", "authors": "Deng HX, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, Cheng L, Zhai H, Deng S, Nuytemans K, Corbett NJ, Kim MJ, Deng H, Tang B, Yang Z, Xu Y, Chan P, Huang B, Gao XP, Song Z, Liu Z, Fecto F, Siddique N, Foroud T, Jankovic J, Ghetti B, Nicholson DA, Krainc D, Melen O, Vance JM, Pericak-Vance MA, Ma YC, Rajput AH, Siddique T", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "reference": [ { "type": "PubMed", "id": "27270108", "url": "https://glygen.org/publication/PubMed/27270108" } ] }, { "title": "Parkinson's disease-linked DNAJC13 mutation aggravates alpha-synuclein-induced neurotoxicity through perturbation of endosomal trafficking.", "journal": "Human molecular genetics", "date": "2018", "authors": "Yoshida S, Hasegawa T, Suzuki M, Sugeno N, Kobayashi J, Ueyama M, Fukuda M, Ido-Fujibayashi A, Sekiguchi K, Ezura M, Kikuchi A, Baba T, Takeda A, Mochizuki H, Nagai Y, Aoki M", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" } ], "reference": [ { "type": "PubMed", "id": "29309590", "url": "https://glygen.org/publication/PubMed/29309590" } ] }, { "title": "DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.", "journal": "Parkinsonism & related disorders", "date": "2018", "authors": "Gagliardi M, Annesi G, Procopio R, Morelli M, Iannello G, Bonapace G, Mancini M, Nicoletti G, Quattrone A", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" } ], "reference": [ { "type": "PubMed", "id": "29887357", "url": "https://glygen.org/publication/PubMed/29887357" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75165", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75165" }, { "database": "O-GlcNAc Atlas", "id": "O75165", "url": "https://oglcnac.org/atlas/detail/O75165" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive modulator of autophagy and stabilizes cellular protein homeostasis.", "journal": "Cellular and molecular life sciences : CMLS", "date": "2021", "authors": "Besemer AS, Maus J, Ax MDA, Stein A, Vo S, Freese C, Nalbach K, von Hilchen C, Pfalzgraf IF, Koziollek-Drechsler I, Silva B, Huesmann H, Boukhallouk F, Florin L, Kern A, Behl C, Clement AM", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" } ], "reference": [ { "type": "PubMed", "id": "32322926", "url": "https://glygen.org/publication/PubMed/32322926" } ] }, { "title": "Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.", "journal": "Neurobiology of aging", "date": "2021", "authors": "Saini P, Rudakou U, Yu E, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupre N, Greenbaum L, Hassin-Baer S, Espay AJ, Rouleau GA, Alcalay RN, Fon EA, Postuma RB, Gan-Or Z", "evidence": [ { "database": "RefSeq", "id": "NP_056083", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056083" } ], "reference": [ { "type": "PubMed", "id": "33239198", "url": "https://glygen.org/publication/PubMed/33239198" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75165", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75165" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] } ], "pathway": [ { "id": "hsa:23317", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23317", "resource": "KEGG Pathway" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" } ], "orthologs": [ { "uniprot_canonical_ac": "A1Z7S0-1", "protein_name": "Receptor mediated endocytosis 8, isoform A", "gene_name": "Rme-8", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MLPPKENVDLECFLVTKHSWKGRYKRILSIGTAGISTYNPDKLDLTNRWSYSDIVAAAPSKTTNIPHDFVITIKKDKKLDTIKLSSEYRNDILSSILKYYKEFADKPKNAQRFSAYKYHWSGISLPTVLEVTPCSLDQLDPTTNDVLASYMYKDIEGIIAGISDYEGGIVMAYGGFSRLHLFKALNHHEIVQNIAQRSAQFLGIETKILKSQITLEQFERQRFGKFSGDQFQTSSTEFSVHKITPRHPDPVKRILCLTEVTLLERDPQTYSVCTLRPLTDVFALVRDKDNLQRFSIEYKNGIVRNYSTNDRDSLLATVLDAVRSSGNQDVHVRIGNTPRGKRYVPLNSSVDEETEANLMRLVINNFQNPSKRYEILERFNANVPHSGLNYSVTQDSLFAENKDKLILSALQALAQKELDSPTAQLSNLELEAIFHALTRLLASKVGYAAFTNLPGFREIIGTKVVAALRRKDLAVTYSAIDMINSLMHSVNSDHDLKQEQLNKSSILSSKSFLETLLNMWTTHVSHGSGALVLSAMLDFMTFALCVPYSETTDGKQFDTLLELVADRGRYLYKLFQHPSLAIVKGAGLVLRAIIEEGELQVAQQMQALALDEAALCRHLLVALYTPSNDPTQTTQRQLSRHLIGLWLTDSEEAMELFKRIFPAGLLTFLESEETVPESDVEEDKLNFRDNLKFAIQHSNKTRKNVIEKHLQGIKHWGMNLIEKQDGAAQALKNRPVVLRNRRQKKKTSDVVVNLPFFFYSFAKDHSLPNLIWNHKTREELRMCLENELRQFLNDRDLAGQMIVAWNYQEFEVAYQCLADEIKIGDYYIRLILEKDDWPQNLVKDPIELFNALYRRVLCRQRVNDDQMTVFSLQALAKVYRRYHAEIGKFNDMSYILQLSDRCLSPSMRDALINLISCLVLEKSNSRALIDHVQCLVDLITLAHLHKGRAQLNTKTNVIEAGPNMGTYEEKDWYYNIEKDGQKPERQGPITYSELKELWQKGLITPKTRCWAIGMDGWRSLQQIPQLKWCLIAKGTPLYDETELSSKILDILIKCTSFFPSRTQNGVAVLIPGPKLSRKLSEFICLPHVVQVCLTHDPGLLERVATLLYQIMEDNPEMPKVYLTGVFYFMLMYTGSNILPITRFLKMTHMKQGFRSEETSQSGIMHRSILGQLLPEAMVCFLENYSAEKFAEIFLGEFDTPEVIWSSEMRRLLIEKIAAHIADFTPRLRGHTMARYPYLAIPVISYPQLENELFCHIYYLRHLCDTQKFPNWPISDPVQLLKHTLDAWRKEVEKKPPQMTIQQAYQDLGIDLTKTPKPDESMIRKSYYKLAQMYHPDKNPNGREIFEKVNQAYEFLCSRNVWSSGGPDPNNIVLILRTQSILFERYPDVLRPYKYAGYPQLIKTIRLETRDDELFSKEAQLLTAASELCYHTVHCSALNAEELRREEGIEALLEAYTRCVSILGVDSKPDSLHYQVISNVTRCFEVACNFEKCKQKIIQLPQLLSDVCRVVYFKHTLSVSLVTSLAANNYDLQCQLSRNGVLWSLLLFIFEYDYTLDESGVDVSDKSNQQQLANNLAKMAVLGCIALAGYSMELRQKPVTGSETNSPAAKAPPVIKPKPSVSAASSSTYTQNAHNPLQSKQLAITSGKEKESDTSSGSSDTASSTPTESEQQQQLTKTRTSAIQQKYIVTGEAKNSLIKQVLDRLLTRYISNQLATVRDSDVLKLLTANTRNPYLIWDNGTRAQLKDFLEQQRTASAKETHEDIAQVSELVSSFEFDAHKDELQIGGIFIRIYNDMPTHPIAQPKLFIMDLLEYLKHAYQFLQYKKNPASTAAPVNATPKMGNDGILTPTLAPNHPQLQQASTGKSGTTFDEVLTAYNRSKSRKKLETDALTEQQLALQQSKYDFSSDGKIELHITMVLKALIAVIKANAEVEIQCIGNFDMIFGFLASNIFPDNSTVKAVALEVVSLVSRNKECVSEVAACEILGNYLVALKDPELRASQVKVLETLSGLMNVQEMIKEAQAKGATIYLLDMFCNSRNPQIREMCAGILAKMTADRLSGPKVRITVSKFLPALFIDAMVESPATSVQLFESIHEHPELIWNDTTRSNVCDAVADTCQRFYQLQKANSRHVWKDPEILKDIVSNEIVVAGVYLRLFVSNPAWTLRKPKQFLSDLLDFVVEQIGKSSSEQDVLDLSTTALVELLRSQPNLADDIPVLGHIPKLFNLLSVQPKNTLSVLHQLSLSEFCVSAISQTECVAPLKKCMEHNRDCIEKACEALSRLFKHQHDSLISQSLEVGLIPFLLGLLDSRLEFVDNPSAVKAQIVAALKGMTHNLNYGDRVTQILLKHPVWAEFKDQRHDLFIADTTIRGYLTGVNPTAGYLTAGPAQSVEVLTSPPPIDRDDPSARPPID", "length": 2408 }, "evidence": [ { "id": "O75165", "url": "https://omabrowser.org/oma/group/O75165/", "database": "OMA" } ], "common_name": "Fruit fly" }, { "uniprot_canonical_ac": "D4AFX7-1", "protein_name": "Receptor mediated endocytosis-8", "gene_name": "Dnajc13", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MNIIRENKDLACFYTTKHSWRGKYKRVFSVGTHAVTTYNPNTLEVTNQWPYGDICSISPVGKGQGTEFNLTFRKGSGKKSETLKFSTEHRTELLTEALRFRTDFAEGKITGRRYNCYKHHWSDAKKPVVLEVTPGGFDQINPVTNRVLCSYDYRNIEGFVDLSDYQGGFCILYGGFSRLHLFSSEQREEIIKSAIEHAGNYIGISLRIRKEPLEFEQYLNLRFGKYSTDESITSLAEFVVQKISPRHSEPVKRVLAVTETCLVERDPATYNIATLKPLGEVFALVCDSENPQLFTIEFIKGQVRKYSSTERDSLLASLLDGVRASGNRDVCVKMAPTHKGQRWGLLSMPIDEEVESLHLRFLAAPPNGNFADAVFRFNANISYSGVLHAVTQDGLFSENKEKLINNAITALLSQEGDVVASNAELESQFQAVRRLVASKAGFLAFTQLPKFRERLGMKVVKALKRSNNGVIHAAVDMLCALMCPMHDDYDLRQEQLNKASLLSSKKFLENLLEKFNSHVDHGTGALVISSLLDFLTFALCAPYSETTEGQQFDMLLEMVASNGRTLFKLFQHPSMAIVKGAGLVMKAIIEEGDREIATKMQELALSEGALPRHLHTAMFTISSDQRMLTNRQLSRHLVGLWTADNTTATNLLKRILPPGLLAYLDSSDPVPEKDADRMHVRDNVKIAMDQYGKFNKVPEWQRLAGKAAKEVEKFAKEKVDLVLMHWRDRMGIAQKEDKNHMNINQKPVVLRKRRQRIKIEANWDLFYYRFSQDHARSNLIWNFKTREELKDALESEMRTFNIDRELGSASVISWNHHEFEVKYECLAEEIKIGDYYLRLLLEEDENEESGSIKRSYEFFNELYHRFLLTPKVNMKCLCLQALAIVYGRCHEEIGPFTDTRYIIGMLERCTDKLERDRLILFLNKLILNKKNVKDLMDSNGIRILVDLLTLAHLHVSRATVPLQSNVIEASPDMKRESEKEWYFGNADKERSGPYGFHEMQELWAKGMLNAKTRCWAQGMDGWRPLQAIPQLKWCLLASGQAVLNETDLATLILNMLITMCGYFPSRDQDNAIIRPLPRVKRLLSDSTCLPHVIQLLLTFDPILVEKVAILLHHIMQDNPQLPRLYLSGVFFFIMMYTGSNVLPVARFLKYTHSKQAFKSEETKGQDIFQRSILGHILPEAMVCYLENYEPEKFSEIFLGEFDTPEAIWSSEMRRLMIEKIAAHLADFTPRLQSNTRALYQYCPIPVINYPQLENELFCNIYYLKQLCDTLRFPDWPIKDPVKLLKDSLDAWKKEVEKKPPMMSIDDAYEVLNLPIGQGLHDESKIRKAYFRLAQKYHPDKNPEGRDMFEKVNKAYEFLCTKSTKIVDGPDPENIILILKTQSILFNRHKEELQPYKYAGYPMLIRTITMETSDDLLFSKESPLLPAAAELAFHTVNCSALNAEELRRENGLEVLQEAFSRCVAVLNRSSKPSDMSVQVCGHISRCYSVAAQFEECREKITEMPGIIKDLCRVLYFGKCIPRVAALAVECVSSFAVDFWLQTHLFQAGILWYLLVYLFNYDYTLEESGIQKNEETNQQEVANSLAKLSVHALSRLGGYLSEDQATPENPTVRKSLAGMLTPYIARKLAVASATETLKMLNSNTESPYLMWNNSTRAELLEFLESQQENMIKKGDCDKTYGAEFVYSEHAKELIVGEIFVRVYNEVPTFQLEVPKEFAASLLDYIGSQAQYLHTFMAITHAAKVESEQHGDRLPRVEMALEALRNVIKYNPGSESECIGHFKLIFSLLRVHGAGQVQQLALEVVNIVTSNQDCVNNIAESMVLSNLLALLHSLPSSRQLVLETLYALASNTKIIKEAMAKGALIYLLDMFCNSTHPQVRSQTAELFAKMTADKLIGPKVRITLMKFLPSVFMDAMRDNPEAAVHIFEGTHENPELIWNDSSRDKVSTTVREMMLEHFKNQRDNPDVNWKLPEDFAVVFGEAEGELAVGGVFLRIFIAQPAWVLRKPREFLIALLEKLTELLEKNNPHGETLETLTMATVCLFSAQPQLADQVPPLGHLPKVIQAMNHRNNAIPKSAIRVIHVLSDNELCVRAMASLETIGPLMNGMRKRADTVGLACEAINRMFQKEQSELVAQALKAELVPYLLKLLEGVGLENLDSPAATKAQIVKALKAMTRSLQYGEQVSEILSRSSVWSAFKDQKHDLFISDSQTAGYLTGPGVAGYLTAGTSSSAMSNLPPPVDHEAGDLGYQT", "length": 2248 }, "evidence": [ { "id": "45933611", "url": "http://www.informatics.jax.org/homology/45933611", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 6, "go_terms": [ { "name": "regulation of early endosome to late endosome transport", "id": "GO:2000641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000641", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "endosome organization", "id": "GO:0007032", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007032", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "protein transport", "id": "GO:0015031", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015031", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "receptor-mediated endocytosis", "id": "GO:0006898", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006898", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "osteoblast differentiation", "id": "GO:0001649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001649", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "regulation of early endosome to recycling endosome transport", "id": "GO:1902954", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902954", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 10, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "intracellular membrane-bounded organelle", "id": "GO:0043231", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043231", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "secretory granule membrane", "id": "GO:0030667", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030667", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "early endosome membrane", "id": "GO:0031901", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031901", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "endosome membrane", "id": "GO:0010008", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010008", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" }, { "name": "azurophil granule membrane", "id": "GO:0035577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035577", "evidence": [ { "database": "UniProtKB", "id": "O75165", "url": "https://www.uniprot.org/uniprot/O75165" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1039, "end_pos": 1041, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1431, "end_pos": 1433, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1645, "end_pos": 1647, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1646, "end_pos": 1648, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1865, "end_pos": 1867, "annotation": "n_glycosylation_sequon" }, { "start_pos": 380, "end_pos": 382, "annotation": "n_glycosylation_sequon" }, { "start_pos": 645, "end_pos": 647, "annotation": "n_glycosylation_sequon" }, { "start_pos": 69, "end_pos": 71, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 2167 ], "snv_sites": [ 56, 117, 202, 229, 533, 685, 1144, 1187, 1221, 1245, 1309, 1316, 1355, 1625, 1635, 1811, 2019, 2167, 2229 ], "glycation_sites": [], "phosphorylation_sites": [ 82, 102, 1843, 2151 ], "sequon_annotation_sites": [ { "start_pos": 1039, "end_pos": 1041 }, { "start_pos": 1431, "end_pos": 1433 }, { "start_pos": 1645, "end_pos": 1647 }, { "start_pos": 1646, "end_pos": 1648 }, { "start_pos": 1865, "end_pos": 1867 }, { "start_pos": 380, "end_pos": 382 }, { "start_pos": 645, "end_pos": 647 }, { "start_pos": 69, "end_pos": 71 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": 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"o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 19 }, { "field": "total_sites", "count": 19 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 15 } ], 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