{ "uniprot_canonical_ac": "O14773-1", "uniprot_ac": "O14773", "uniprot_id": "TPP1_HUMAN", "mass": { "chemical_mass": 61248.0, "monoisotopic_mass": 61248.0 }, "refseq": { "ac": "NP_000382", "name": "tripeptidyl-peptidase 1 preproprotein", "summary": "This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382" }, "gene_names": [ { "name": "TPP1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O14773", "id": "O14773" }, { "name": "CLN2; GIG1; LPIC; SCAR7; TPP-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382", "id": "NP_000382" }, { "name": "CLN2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14773", "id": "O14773" }, { "name": "GIG1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14773", "id": "O14773" }, { "name": "PRO304", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O14773", "id": "O14773" }, { "name": "TPP1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382", "id": "NP_000382" } ], "protein_names": [ { "name": "Tripeptidyl-peptidase 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O14773" }, { "name": "3.4.14.9", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14773" }, { "name": "Cell growth-inhibiting gene 1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14773" }, { "name": "LPIC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14773" }, { "name": "Lysosomal pepstatin-insensitive protease", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14773" }, { "name": "TPP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14773" }, { "name": "TPP-I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14773" }, { "name": "Tripeptidyl aminopeptidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14773" }, { "name": "Tripeptidyl-peptidase I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O14773" }, { "name": "tripeptidyl aminopeptidase; tripeptidyl peptidase I; lysosomal pepstatin insensitive protease; growth-inhibiting protein 1; cell growth-inhibiting gene 1 protein; lysosomal pepstatin-insensitive carboxypeptidase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382", "id": "NP_000382" }, { "name": "tripeptidyl-peptidase 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382", "id": "NP_000382" } ], "function": [ { "annotation": "CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.", "evidence": [ { "database": "RefSeq", "id": "NP_000382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382" }, { "database": "PubMed", "id": "37922835", "url": "https://glygen.org/publication/PubMed/37922835" } ] }, { "annotation": "Lysosomal serine protease with tripeptidyl-peptidase I activity (PubMed:11054422, PubMed:19038966, PubMed:19038967). May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases (PubMed:11054422, PubMed:19038966, PubMed:19038967). Requires substrates with an unsubstituted N-terminus (PubMed:19038966).", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773#function" }, { "database": "PubMed", "id": "11054422", "url": "https://glygen.org/publication/PubMed/11054422" }, { "database": "PubMed", "id": "19038966", "url": "https://glygen.org/publication/PubMed/19038966" }, { "database": "PubMed", "id": "19038967", "url": "https://glygen.org/publication/PubMed/19038967" } ] }, { "annotation": "TPP1 Inhibits DNA Damage Response and Chemosensitivity in Esophageal Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_000382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382" }, { "database": "PubMed", "id": "37606165", "url": "https://glygen.org/publication/PubMed/37606165" } ] }, { "annotation": "This gene encodes a member of the sedolisin family of serine proteases. The protease functions in the lysosome to cleave N-terminal tripeptides from substrates, and has weaker endopeptidase activity. It is synthesized as a catalytically-inactive enzyme which is activated and auto-proteolyzed upon acidification. Mutations in this gene result in late-infantile neuronal ceroid lipofuscinosis, which is associated with the failure to degrade specific neuropeptides and a subunit of ATP synthase in the lysosome. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382" } ] } ], "disease": [ { "disease_id": "DOID:0080059", "recommended_name": { "id": "DOID:0080059", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080059", "name": "autosomal recessive spinocerebellar ataxia 7", "description": "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15." }, "synonyms": [ { "id": "DOID:0080059", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080059", "name": "SCAR7", "description": "" }, { "id": "MONDO:0012235", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012235", "name": "autosomal recessive spinocerebellar ataxia 7", "description": "Spinocerebellar ataxia autosomal recessive 7, also called SCAR7, is a slowly progressive hereditary form of spinocerebellar ataxia. Symptoms of SCAR7 can include difficulty walking and writing, speech difficulties (dysarthria), limb ataxia, and a decrease in the size of a region of the brain called the cerebellum (cerebellar atrophy). Of the few reported cases in the literature, some patients also had eye involvement that included nystagmus (in voluntary eye movements)and saccadic pursuit eye movements. Out of 5 affected siblings examined in a large Dutch family, 2 became wheelchair-dependent late in life. The severity of the symptoms varies from mild to severe. SCAR7 is caused by mutations in the TPP1 gene and is inherited in an autosomal recessive manner." }, { "id": "MONDO:0012235", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012235", "name": "SCAR7", "description": "" }, { "id": "MONDO:0012235", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012235", "name": "autosomal recessive spinocerebellar ataxia type 7", "description": "" }, { "id": "MONDO:0012235", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012235", "name": "spinocerebellar ataxia, autosomal recessive type 7", "description": "" }, { "id": "MONDO:0012235", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012235", "name": "childhood onset autosomal recessive slowly progressive spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0012235", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012235", "name": "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia", "description": "" }, { "id": "MONDO:0012235", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012235", "name": "spinocerebellar ataxia autosomal recessive 7", "description": "" }, { "id": "MONDO:0012235", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012235", "name": "spinocerebellar ataxia, autosomal recessive 7", "description": "" }, { "id": "MIM:609270", "resource": "MIM", "url": "https://www.omim.org/entry/609270", "name": "Spinocerebellar ataxia, autosomal recessive, 7", "description": "Spinocerebellar ataxia, autosomal recessive, 7" } ], "evidence": [ { "id": "609270", "database": "MIM", "url": "https://www.omim.org/entry/609270" } ] }, { "disease_id": "DOID:0110726", "recommended_name": { "id": "DOID:0110726", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110726", "name": "neuronal ceroid lipofuscinosis 2", "description": "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15." }, "synonyms": [ { "id": "DOID:0110726", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110726", "name": "CLN2", "description": "" }, { "id": "DOID:0110726", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110726", "name": "neuronal ceroid lipofuscinosis 2 variable age at onset", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "neuronal ceroid lipofuscinosis 2", "description": "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "late infantile neuronal ceroid lipofuscinosis", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "CLN2", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "TPP1 neuronal ceroid lipofuscinosis", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "ceroid lipofuscinosis, neuronal, type 2", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "neuronal ceroid lipofuscinosis 2 variable age at onset", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "neuronal ceroid lipofuscinosis caused by mutation in TPP1", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "neuronal ceroid lipofuscinosis type 2", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "CLN2 disease", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "CLN2 disease, juvenile (subtype)", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "CLN2 disease, late infantile (subtype)", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "Jansky-Bielschowsky disease", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "ceroid lipofuscinosis, neuronal, 2", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "ceroid lipofuscinosis, neuronal, 2, variable Age at onset", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "neuronal ceroid lipofuscinosis, late infantile", "description": "" }, { "id": "MIM:204500", "resource": "MIM", "url": "https://www.omim.org/entry/204500", "name": "Ceroid lipofuscinosis, neuronal, 2", "description": "Ceroid lipofuscinosis, neuronal, 2" } ], "evidence": [ { "id": "204500", "database": "MIM", "url": "https://www.omim.org/entry/204500" } ] } ], "snv": [ { "evidence": [ { "id": "rs753509905", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753509905" }, { "id": "rs753509905", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753509905" }, { "id": "rs753509905", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753509905#frequency_tab" }, { "id": "rs753509905", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753509905" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 18, "end_pos": 18, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KCS->NCS).", "chr_id": "11", "chr_pos": "6619231", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K18", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1372821670", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1372821670" }, { "id": "rs1372821670", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1372821670#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 210, "end_pos": 210, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->KLT).", "chr_id": "11", "chr_pos": "6617032", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N210", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753510626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753510626" }, { "id": "rs753510626", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753510626" }, { "id": "rs753510626", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753510626" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 212, "end_pos": 212, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLA).", "chr_id": "11", "chr_pos": "6617028", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760791212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760791212" }, { "id": "rs760791212", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760791212#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 212, "end_pos": 212, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLI).", "chr_id": "11", "chr_pos": "6617027", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760791212", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760791212" }, { "id": "rs760791212", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760791212#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 212, "end_pos": 212, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLN).", "chr_id": "11", "chr_pos": "6617027", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753510626", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753510626" }, { "id": "rs753510626", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753510626" }, { "id": "rs753510626", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753510626" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 212, "end_pos": 212, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLP).", "chr_id": "11", "chr_pos": "6617028", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T212", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1403724629", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1403724629" }, { "id": "rs1403724629", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1403724629" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->KNS).", "chr_id": "11", "chr_pos": "6616996", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs372787642", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372787642" }, { "id": "rs372787642", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs372787642" }, { "id": "rs372787642", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs372787642#frequency_tab" }, { "id": "rs372787642", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs372787642" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->SNS).", "chr_id": "11", "chr_pos": "6616997", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N222", "disease": [ { "disease_id": "DOID:0110726", "recommended_name": { "id": "DOID:0110726", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110726", "name": "neuronal ceroid lipofuscinosis 2", "description": "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15." }, "synonyms": [ { "id": "DOID:0110726", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110726", "name": "CLN2", "description": "" }, { "id": "DOID:0110726", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110726", "name": "neuronal ceroid lipofuscinosis 2 variable age at onset", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "neuronal ceroid lipofuscinosis 2", "description": "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments." }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "late infantile neuronal ceroid lipofuscinosis", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "CLN2", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "TPP1 neuronal ceroid lipofuscinosis", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "ceroid lipofuscinosis, neuronal, type 2", "description": "" }, { "id": "MONDO:0008769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008769", "name": "neuronal ceroid lipofuscinosis 2 variable 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"description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", 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"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", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", 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}, { "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": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "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, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "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 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "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, 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"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": "http://disease-ontology.org/term/DOID:10534", "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": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", 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relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast 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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": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O14773", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O14773" } ], "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/O14773" } ], "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": [ { 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YDY1", "url": "https://www.uniprot.org/uniprot/A0A2R8YDY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YDY1-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YDY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YE64", "url": "https://www.uniprot.org/uniprot/A0A2R8YE64", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YE64-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YE64-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YGD1", "url": "https://www.uniprot.org/uniprot/A0A2R8YGD1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YGD1-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YGD1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJ17", "url": "https://www.uniprot.org/uniprot/A0A804HJ17", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A804HJ17-1", 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"O14773-1", "url": "https://www.uniprot.org/uniprot/O14773-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O14773-2", "url": "https://www.uniprot.org/uniprot/O14773-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLPQALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP", "length": 563, "header": "sp|O14773-1|TPP1_HUMAN Isoform 1 of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=2 CANONICAL=O14773-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y6T9-1", "url": "", "sequence": { "sequence": "MGLQAWALCPHPLWQMQLQPGARPAEDAAPRLGVPGPCGP", "length": 40, "header": "tr|A0A2R8Y6T9-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6619400, "end_pos": 6618877, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647209.1", "url": "https://www.ensembl.org/id/ENST00000647209.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495558.1", "url": "https://www.ensembl.org/id/ENSP00000495558.1" } ] } }, { "isoform_ac": "A0A2R8Y7I4-1", "url": "", "sequence": { "sequence": "MRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASRSQAPNLLCGIQLPLFLFVSSQAF", "length": 162, "header": "tr|A0A2R8Y7I4-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6616817, "end_pos": 6615779, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644933.1", "url": "https://www.ensembl.org/id/ENST00000644933.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496133.1", "url": "https://www.ensembl.org/id/ENSP00000496133.1" } ] } }, { "isoform_ac": "A0A2R8Y7U1-1", "url": "", "sequence": { "sequence": "XGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLPQALAPHVDFGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP", "length": 400, "header": "tr|A0A2R8Y7U1-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6618891, "end_pos": 6614547, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643516.1", "url": "https://www.ensembl.org/id/ENST00000643516.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496372.1", "url": "https://www.ensembl.org/id/ENSP00000496372.1" } ] } }, { "isoform_ac": "A0A2R8YCK4-1", "url": "", "sequence": { "sequence": "MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGAFWD", "length": 81, "header": "tr|A0A2R8YCK4-1|A0A2R8YCK4_HUMAN Computationally mapped isoform of Tripeptidyl peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6619400, "end_pos": 6618762, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531754.2", "url": "https://www.ensembl.org/id/ENST00000531754.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000493706.1", "url": "https://www.ensembl.org/id/ENSP00000493706.1" } ] } }, { "isoform_ac": "A0A2R8YD45-1", "url": "", "sequence": { "sequence": "MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLPQALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP", "length": 500, "header": "tr|A0A2R8YD45-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6619400, "end_pos": 6614549, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644218.1", "url": "https://www.ensembl.org/id/ENST00000644218.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493574.1", "url": "https://www.ensembl.org/id/ENSP00000493574.1" } ] } }, { "isoform_ac": "A0A2R8YD72-1", "url": "", "sequence": { "sequence": "XLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSGRHILPGTFPHHK", "length": 92, "header": "tr|A0A2R8YD72-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6616479, "end_pos": 6615505, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643342.1", "url": "https://www.ensembl.org/id/ENST00000643342.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494324.1", "url": "https://www.ensembl.org/id/ENSP00000494324.1" } ] } }, { "isoform_ac": "A0A2R8YDY1-1", "url": "", "sequence": { "sequence": "MRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGDSGAGCWSVSGRHQFRPTFPASRSQAPNLLCGIQLPLFLFVSSQAF", "length": 99, "header": "tr|A0A2R8YDY1-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6616817, "end_pos": 6615779, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645285.1", "url": "https://www.ensembl.org/id/ENST00000645285.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495058.1", "url": "https://www.ensembl.org/id/ENSP00000495058.1" } ] } }, { "isoform_ac": "A0A2R8YE64-1", "url": "", "sequence": { "sequence": "MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVWGDCTVFPQHHP", "length": 162, "header": "tr|A0A2R8YE64-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6619400, "end_pos": 6617118, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644683.1", "url": "https://www.ensembl.org/id/ENST00000644683.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494085.1", "url": "https://www.ensembl.org/id/ENSP00000494085.1" } ] } }, { "isoform_ac": "A0A2R8YGD1-1", "url": "", "sequence": { "sequence": "MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP", "length": 470, "header": "tr|A0A2R8YGD1-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6619400, "end_pos": 6614549, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644810.1", "url": "https://www.ensembl.org/id/ENST00000644810.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495895.1", "url": "https://www.ensembl.org/id/ENSP00000495895.1" } ] } }, { "isoform_ac": "A0A804HJ17-1", "url": "", "sequence": { "sequence": "MTADPRKELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLPQALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP", "length": 525, "header": "tr|A0A804HJ17-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6619427, "end_pos": 6614549, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000682424.1", "url": "https://www.ensembl.org/id/ENST00000682424.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000507321.1", "url": "https://www.ensembl.org/id/ENSP00000507321.1" } ] } }, { "isoform_ac": "E7EV34-1", "url": "", "sequence": { "sequence": "XAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLPQALAPHVDFGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEE", "length": 170, "header": "tr|E7EV34-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=3 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6618808, "end_pos": 6615323, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436873.7", "url": "https://www.ensembl.org/id/ENST00000436873.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000398136.3", "url": "https://www.ensembl.org/id/ENSP00000398136.3" } ] } }, { "isoform_ac": "E9PME9-1", "url": "", "sequence": { "sequence": "MGLQACLLGLFALILSGKCSYSPEPDQRRT", "length": 30, "header": "tr|E9PME9-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6619400, "end_pos": 6619195, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528657.2", "url": "https://www.ensembl.org/id/ENST00000528657.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000435001.1", "url": "https://www.ensembl.org/id/ENSP00000435001.1" } ] } }, { "isoform_ac": "E9PPA4-1", "url": "", "sequence": { "sequence": "MGLQACLLGLFALILSGKCSYSPEPDQRRTKIPDPRECG", "length": 39, "header": "tr|E9PPA4-1|TPP1_HUMAN Computationally mapped isoform of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=1 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6619400, "end_pos": 6617749, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528571.6", "url": "https://www.ensembl.org/id/ENST00000528571.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000434647.1", "url": "https://www.ensembl.org/id/ENSP00000434647.1" } ] } }, { "isoform_ac": "O14773-1", "url": "", "sequence": { "sequence": "MGLQACLLGLFALILSGKCSYSPEPDQRRTLPPGWVSLGRADPEEELSLTFALRQQNVERLSELVQAVSDPSSPQYGKYLTLENVADLVRPSPLTLHTVQKWLLAAGAQKCHSVITQDFLTCWLSIRQAELLLPGAEFHHYVGGPTETHVVRSPHPYQLPQALAPHVDFVGGLHRFPPTSSLRQRPEPQVTGTVGLHLGVTPSVIRKRYNLTSQDVGSGTSNNSQACAQFLEQYFHDSDLAQFMRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP", "length": 563, "header": "sp|O14773-1|TPP1_HUMAN Isoform 1 of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=2 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6619400, "end_pos": 6614549, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000299427.12", "url": "https://www.ensembl.org/id/ENST00000299427.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000299427.6", "url": "https://www.ensembl.org/id/ENSP00000299427.6" } ] } }, { "isoform_ac": "O14773-2", "url": "", "sequence": { "sequence": "MRLFGGNFAHQASVARVVGQQGRGRAGIEASLDVQYLMSAGANISTWVYSSPGRHEGQEPFLQWLMLLSNESALPHVHTVSYGDDEDSLSSAYIQRVNTELMKAAARGLTLLFASGDSGAGCWSVSGRHQFRPTFPASSPYVTTVGGTSFQEPFLITNEIVDYISGGGFSNVFPRPSYQEEAVTKFLSSSPHLPPSSYFNASGRAYPDVAALSDGYWVVSNRVPIPWVSGTSASTPVFGGILSLINEHRILSGRPPLGFLNPRLYQQHGAGLFDVTRGCHESCLDEEVEGQGFCSGPGWDPVTGWGTPNFPALLKTLLNP", "length": 320, "header": "sp|O14773-2|TPP1_HUMAN Isoform 2 of Tripeptidyl-peptidase 1 OS=Homo sapiens OX=9606 GN=TPP1 PE=1 SV=2 CANONICAL=O14773-1" }, "locus": { "chromosome": "11", "start_pos": 6616817, "end_pos": 6614549, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642892.1", "url": "https://www.ensembl.org/id/ENST00000642892.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494165.1", "url": "https://www.ensembl.org/id/ENSP00000494165.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 193, "start_aa": "Thr", "end_pos": 193, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr193", "evidence": [ { "id": "O14773", "database": "UniCarbKB", "url": "" }, { "id": "25813380", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/25813380" }, { "id": "10.1074/mcp.M114.046862", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "glytoucan_ac": "G64394MX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 210, "start_aa": "Asn", "end_pos": 210, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn210", "evidence": [ { "id": "1858", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1858" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70375MX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 210, "start_aa": "Asn", "end_pos": 210, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn210", "evidence": [ { "id": "1858", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1858" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "G80735OA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 210, "start_aa": "Asn", "end_pos": 210, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn210", "evidence": [ { "id": "O14773", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 210, "start_aa": "Asn", "end_pos": 210, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn210", "evidence": [ { "id": "O14773", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14773#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "19038966", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19038966" }, { "id": "19038967", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19038967" }, { "id": "3EE6", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3EE6" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "14702339", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/14702339" }, { "id": "14702339", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/14702339" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 222, "start_aa": "Asn", "end_pos": 222, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn222", "evidence": [ { "id": "O14773", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14773#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "14702339", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/14702339" }, { "id": "14702339", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/14702339" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 223, "start_aa": "Asn", "end_pos": 223, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn223", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 286, "start_aa": "Asn", "end_pos": 286, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn286", "evidence": [ { "id": "O14773", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O14773#ptm_processing" }, { "id": "19038966", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19038966" }, { "id": "19038967", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19038967" }, { "id": "3EE6", "database": "RCSB PDB", "url": "https://www.rcsb.org/sequence/3EE6" }, { "id": "14702339", "database": "Automatic Literature Mining", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/14702339" }, { "id": "14702339", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/14702339" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 313, "start_aa": "Asn", "end_pos": 313, "end_aa": "Asn", "residue": "Asn", "site_lbl": 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B., Ferreira J. A., Afonso L. P., Santos L. L., Pinto de Sousa J., Mandel U., Clausen H., Vakhrushev S. Y., Reis C. A.", "evidence": [ { "database": "UniCarbKB", "id": "O14773", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1074/mcp.M114.046862", "url": "https://glygen.org/publication/DOI/10.1074/mcp.M114.046862" } ] }, { "title": "Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder.", "journal": "American journal of human genetics", "date": "1999", "authors": "Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany RM, Uldall P, Siakotos AN, Donnelly RJ, Lobel P", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "10330339", "url": "https://glygen.org/publication/PubMed/10330339" } ] }, { "title": "Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.", "journal": "Hum. Mutat.", "date": "1999", "authors": "Mole S E, Mitchison H M, Munroe P B", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "10477428", "url": "https://glygen.org/publication/PubMed/10477428" } ] }, { "title": "Stress-associated endoplasmic reticulum protein 1 (SERP1)/Ribosome-associated membrane protein 4 (RAMP4) stabilizes membrane proteins during stress and facilitates subsequent glycosylation.", "journal": "The Journal of cell biology", "date": "1999", "authors": "Yamaguchi A, Hori O, Stern DM, Hartmann E, Ogawa S, Tohyama M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "10601334", "url": "https://glygen.org/publication/PubMed/10601334" } ] }, { "title": "Prenatal testing for late infantile neuronal ceroid lipofuscinosis.", "journal": "Annals of neurology", "date": "2000", "authors": "Berry-Kravis E, Sleat DE, Sohar I, Meyer P, Donnelly R, Lobel P", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "10665500", "url": "https://glygen.org/publication/PubMed/10665500" } ] }, { "title": "HEDJ, an Hsp40 co-chaperone localized to the endoplasmic reticulum of human cells.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Yu M, Haslam RH, Haslam DB", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "10827079", "url": "https://glygen.org/publication/PubMed/10827079" } ] }, { "title": "The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lin L, Sohar I, Lackland H, Lobel P", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "11054422", "url": "https://glygen.org/publication/PubMed/11054422" } ] }, { "title": "Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis.", "journal": "American journal of medical genetics", "date": "2001", "authors": "Lam CW, Poon PM, Tong SF, Ko CH", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "11241479", "url": "https://glygen.org/publication/PubMed/11241479" } ] }, { "title": "Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.", "journal": "Genetics in medicine : official journal of the American College of Medical Genetics", "date": "2000", "authors": "Zhong N, Moroziewicz DN, Ju W, Jurkiewicz A, Johnston L, Wisniewski KE, Brown WT", "evidence": [ { 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Moroziewicz D, Ju W, Salonen T, Holmberg V, Jarvela I, Taschner PE", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "11589012", "url": "https://glygen.org/publication/PubMed/11589012" } ] }, { "title": "Functional analysis of human P5, a protein disulfide isomerase homologue.", "journal": "Journal of biochemistry", "date": "2002", "authors": "Kikuchi M, Doi E, Tsujimoto I, Horibe T, Tsujimoto Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "12204115", "url": "https://glygen.org/publication/PubMed/12204115" } ] }, { "title": "Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.", "journal": "American journal of medical genetics", "date": "2002", "authors": "Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschutter A", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" }, { "database": "dbSNP", "id": "rs119455958", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119455958" } ], "reference": [ { "type": "PubMed", "id": "12376936", "url": "https://glygen.org/publication/PubMed/12376936" } ] }, { "title": "Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles.", "journal": "Journal of medical genetics", "date": "2002", "authors": "Ju W, Zhong R, Moore S, Moroziewicz D, Currie JR, Parfrey P, Brown WT, Zhong N", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "12414822", "url": "https://glygen.org/publication/PubMed/12414822" } ] }, { "title": "Proteomic analysis of early melanosomes: identification of novel melanosomal proteins.", "journal": "J. Proteome Res.", "date": "2003", "authors": "Basrur V, Yang F, Kushimoto T, Higashimoto Y, Yasumoto K, Valencia J, Muller J, Vieira WD, Watabe H, Shabanowitz J, Hearing VJ, Hunt DF, Appella E", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "12643545", "url": "https://glygen.org/publication/PubMed/12643545" } ] }, { "title": "[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation].", "journal": "Voprosy meditsinskoi khimii", "date": "2002", "authors": "Bukina AM, Tsvetkova IV, Semiachkina AN, Il'ina ES", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "12698559", "url": "https://glygen.org/publication/PubMed/12698559" } ] }, { "title": "Identification and quantification of N-linked glycoproteins using hydrazide chemistry, stable isotope labeling and mass spectrometry.", "journal": "Nature biotechnology", "date": "2003", "authors": "Zhang H, Li XJ, Martin DB, Aebersold R", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773#ptm_processing" }, { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "12754519", "url": "https://glygen.org/publication/PubMed/12754519" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "N-glycosylation is crucial for folding, trafficking, and stability of human tripeptidyl-peptidase I.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Wujek P, Kida E, Walus M, Wisniewski KE, Golabek AA", "evidence": [ { "database": "Automatic Literature Mining", "id": "14702339", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/14702339" } ], "reference": [ { "type": "PubMed", "id": "14702339", "url": "https://glygen.org/publication/PubMed/14702339" } ] }, { "title": "Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.", "journal": "Glycobiology", "date": "2004", "authors": "Tsiakas K, Steinfeld R, Storch S, Ezaki J, Lukacs Z, Kominami E, Kohlschutter A, Ullrich K, Braulke T", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" }, { "database": "dbSNP", "id": "rs119455958", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs119455958" } ], "reference": [ { "type": "PubMed", "id": "14736728", "url": "https://glygen.org/publication/PubMed/14736728" } ] }, { "title": "A role for the thiol isomerase protein ERP5 in platelet function.", "journal": "Blood", "date": "2005", "authors": "Jordan PA, Stevens JM, Hubbard GP, Barrett NE, Sage T, Authi KS, Gibbins JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "15466936", "url": "https://glygen.org/publication/PubMed/15466936" } ] }, { "title": "pXBP1(U) encoded in XBP1 pre-mRNA negatively regulates unfolded protein response activator pXBP1(S) in mammalian ER stress response.", "journal": "The Journal of cell biology", "date": "2006", "authors": "Yoshida H, Oku M, Suzuki M, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "16461360", "url": "https://glygen.org/publication/PubMed/16461360" } ] }, { "title": "XBP1 induces WFS1 through an endoplasmic reticulum stress response element-like motif in SH-SY5Y cells.", "journal": "Journal of neurochemistry", "date": "2006", "authors": "Kakiuchi C, Ishiwata M, Hayashi A, Kato T", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "16539657", "url": "https://glygen.org/publication/PubMed/16539657" } ] }, { "title": "Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes.", "journal": "J. Proteome Res.", "date": "2006", "authors": "Chi A, Valencia JC, Hu ZZ, Watabe H, Yamaguchi H, Mangini NJ, Huang H, Canfield VA, Cheng KC, Yang F, Abe R, Yamagishi S, Shabanowitz J, Hearing VJ, Wu C, Appella E, Hunt DF", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "17081065", "url": "https://glygen.org/publication/PubMed/17081065" } ] }, { "title": "Neuronal ceroid lipofuscinosis: a common pathway?", "journal": "Pediatr. Res.", "date": "2007", "authors": "Persaud-Sawin Dixie-Ann, Mousallem Talal, Wang Christine, Zucker Adam, Kominami Eiki, Boustany Rose-Mary N", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "17237713", "url": "https://glygen.org/publication/PubMed/17237713" } ] }, { "title": "Human HRD1 promoter carries a functional unfolded protein response element to which XBP1 but not ATF6 directly binds.", "journal": "Journal of biochemistry", "date": "2008", "authors": "Yamamoto K, Suzuki N, Wada T, Okada T, Yoshida H, Kaufman RJ, Mori K", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "18664523", "url": "https://glygen.org/publication/PubMed/18664523" } ] }, { "title": "Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Pal A, Kraetzner R, Gruene T, Grapp M, Schreiber K, Gronborg M, Urlaub H, Becker S, Asif AR, Gartner J, Sheldrick GM, Steinfeld R", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773#ptm_processing" }, { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "19038966", "url": "https://glygen.org/publication/PubMed/19038966" } ] }, { "title": "Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis.", "journal": "The Journal of biological chemistry", "date": "2009", "authors": "Guhaniyogi J, Sohar I, Das K, Stock AM, Lobel P", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773#ptm_processing" }, { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "19038967", "url": "https://glygen.org/publication/PubMed/19038967" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773#ptm_processing" }, { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.", "journal": "Brain : a journal of neurology", "date": "2009", "authors": "Kousi M, Siintola E, Dvorakova L, Vlaskova H, Turnbull J, Topcu M, Yuksel D, Gokben S, Minassian BA, Elleder M, Mole SE, Lehesjoki AE", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "19201763", "url": "https://glygen.org/publication/PubMed/19201763" } ] }, { "title": "Novel interactions of CLN5 support molecular networking between neuronal ceroid lipofuscinosis proteins.", "journal": "BMC Cell Biol.", "date": "2009", "authors": "Lyly A, von Schantz C, Heine C, Schmiedt ML, Sipila T, Jalanko A, Kyttala A", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "19941651", "url": "https://glygen.org/publication/PubMed/19941651" } ] }, { "title": "Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I.", "journal": "Human mutation", "date": "2010", "authors": "Walus M, Kida E, Golabek AA", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "20340139", "url": "https://glygen.org/publication/PubMed/20340139" } ] }, { "title": "Role of miR-204 in the regulation of apoptosis, endoplasmic reticulum stress response, and inflammation in human trabecular meshwork cells.", "journal": "Investigative ophthalmology & visual science", "date": "2011", "authors": "Li G, Luna C, Qiu J, Epstein DL, Gonzalez P", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "21282569", "url": "https://glygen.org/publication/PubMed/21282569" } ] }, { "title": "Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.", "journal": "Human mutation", "date": "2012", "authors": "Kousi M, Lehesjoki AE, Mole SE", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "21990111", "url": "https://glygen.org/publication/PubMed/21990111" } ] }, { "title": "Targeted next generation sequencing as a diagnostic tool in epileptic disorders.", "journal": "Epilepsia", "date": "2012", "authors": "Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Burki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kroll J, Dorn T, Kramer G, Synofzik M, Becker F, Weber YG, Lerche H, Bohm D, Biskup S", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "22612257", "url": "https://glygen.org/publication/PubMed/22612257" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).", "journal": "Human mutation", "date": "2013", "authors": "Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "reference": [ { "type": "PubMed", "id": "23418007", "url": "https://glygen.org/publication/PubMed/23418007" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Probing the O-glycoproteome of gastric cancer cell lines for biomarker discovery.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015", "authors": "Campos D, Freitas D, Gomes J, Magalhaes A, Steentoft C, Gomes C, Vester-Christensen MB, Ferreira JA, Afonso LP, Santos LL, Pinto de Sousa J, Mandel U, Clausen H, Vakhrushev SY, Reis CA", "evidence": [ { "database": "UniCarbKB", "id": "O14773", "url": "" } ], "reference": [ { "type": "PubMed", "id": "25813380", "url": "https://glygen.org/publication/PubMed/25813380" } ] }, { "title": "Synthesis of a Highly Azide-Reactive and Thermosensitive Biofunctional Reagent for Efficient Enrichment and Large-Scale Identification of O-GlcNAc Proteins by Mass Spectrometry.", "journal": "Analytical chemistry", "date": "2017", "authors": "Zhang W, Liu T, Dong H, Bai H, Tian F, Shi Z, Chen M, Wang J, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14773", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14773" } ], "reference": [ { "type": "PubMed", "id": "28510447", "url": "https://glygen.org/publication/PubMed/28510447" } ] }, { "title": "Site-Specific Profiling of Serum Glycoproteins Using N-Linked Glycan and Glycosite Analysis Revealing Atypical N-Glycosylation Sites on Albumin and alpha-1B-Glycoprotein.", "journal": "Analytical chemistry", "date": "2018", "authors": "Sun S, Hu Y, Jia L, Eshghi ST, Liu Y, Shah P, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O14773", "url": "" }, { "database": "GlyConnect", "id": "1858", "url": "https://glyconnect.expasy.org/browser/proteins/1858" } ], "reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "1858", "url": "https://glyconnect.expasy.org/browser/proteins/1858" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "O14773", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O14773" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "TPP1 Inhibits DNA Damage Response and Chemosensitivity in Esophageal Cancer.", "journal": "Critical reviews in eukaryotic gene expression", "date": "2023", "authors": "Wen Jilin, Zhong Xiaowu, Gao Chuanli, Yang Miyuan, Tang Maoju, Yuan Zichun, Wang Qin, Xu Lei, Ma Qiang, Guo Xiaolan, Fang Li", "evidence": [ { "database": "RefSeq", "id": "NP_000382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382" } ], "reference": [ { "type": "PubMed", "id": "37606165", "url": "https://glygen.org/publication/PubMed/37606165" } ] }, { "title": "CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.", "journal": "Molecular genetics and metabolism", "date": "2023-12", "authors": "Steigerwald Connolly, Borsuk Jill, Pappas John, Galey Miranda, Scott Anna, Devaney Joseph M, Miller Danny E, Abreu Nicolas J", "evidence": [ { "database": "RefSeq", "id": "NP_000382", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000382" } ], "reference": [ { "type": "PubMed", "id": "37922835", "url": "https://glygen.org/publication/PubMed/37922835" } ] }, { "title": "Cloning and sequencing of the cDNA encoding human P5.", "journal": "Gene", "date": "1995", "authors": "Hayano T, Kikuchi M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "7590364", "url": "https://glygen.org/publication/PubMed/7590364" } ] }, { "title": "Cloning, expression, and cellular localization of the oncogenic 58-kDa inhibitor of the RNA-activated human and mouse protein kinase.", "journal": "Gene", "date": "1996", "authors": "Korth MJ, Lyons CN, Wambach M, Katze MG", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "8666242", "url": "https://glygen.org/publication/PubMed/8666242" } ] }, { "title": "Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family.", "journal": "Genome research", "date": "1997", "authors": "Wise CA, Clines GA, Massa H, Trask BJ, Lovett M", "evidence": [ { "database": "Reactome", "id": "R-HSA-381038", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381038" } ], "reference": [ { "type": "PubMed", "id": "9037597", "url": "https://glygen.org/publication/PubMed/9037597" } ] }, { "title": "Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis.", "journal": "Science (New York, N.Y.)", 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"https://www.ebi.ac.uk/QuickGO/term/GO:0030163", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "pmid": "" }, { "name": "lysosomal protein catabolic process", "id": "GO:1905146", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1905146", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 7, "go_terms": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "pmid": "" }, { "name": "melanosome", "id": "GO:0042470", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042470", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "pmid": "" }, { "name": "Golgi apparatus", "id": "GO:0005794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005794", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "pmid": "" }, { "name": "membrane raft", "id": "GO:0045121", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045121", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "pmid": "" }, { "name": "recycling endosome", "id": "GO:0055037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0055037", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O14773", "url": "https://www.uniprot.org/uniprot/O14773" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": 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