{ "uniprot_canonical_ac": "O75339-1", "uniprot_ac": "O75339", "uniprot_id": "CILP1_HUMAN", "mass": { "chemical_mass": 132565.0, "monoisotopic_mass": 132565.0 }, "refseq": { "ac": "NP_003604", "name": "cartilage intermediate layer protein 1 preproprotein", "summary": "Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604" }, "gene_names": [ { "name": "CILP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75339", "id": "O75339" }, { "name": "CILP-1; CILP1; HsT18872", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604", "id": "NP_003604" }, { "name": "CILP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604", "id": "NP_003604" }, { "name": "PRO1188", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75339", "id": "O75339" } ], "protein_names": [ { "name": "Cartilage intermediate layer protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75339" }, { "name": "CILP-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75339" }, { "name": "Cartilage intermediate-layer protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75339" }, { "name": "cartilage intermediate layer protein 1 C1; cartilage intermediate layer protein 1 C2; cartilage intermediate layer protein, nucleotide pyrophosphohydrolase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604", "id": "NP_003604" }, { "name": "cartilage intermediate layer protein 1 preproprotein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604", "id": "NP_003604" } ], "function": [ { "annotation": "CILP gene polymorphism (rs2073711) is associated with a lower risk of lumbar disc degeneration.", "evidence": [ { "database": "RefSeq", "id": "NP_003604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604" }, { "database": "PubMed", "id": "30288688", "url": "https://glygen.org/publication/PubMed/30288688" } ] }, { "annotation": "CILP is a potential pan-cancer marker: combined silico study and in vitro analyses.", "evidence": [ { "database": "RefSeq", "id": "NP_003604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604" }, { "database": "PubMed", "id": "37968343", "url": "https://glygen.org/publication/PubMed/37968343" } ] }, { "annotation": "CILP rs2073711 TT is associated with increased risk of symmetrical hand osteoarthritis particularly in individuals with low variation in work tasks. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604" }, { "database": "PubMed", "id": "29233086", "url": "https://glygen.org/publication/PubMed/29233086" } ] }, { "annotation": "CILP-1 Is a Biomarker for Backward Failure and Right Ventricular Dysfunction in HFrEF. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_003604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604" }, { "database": "PubMed", "id": "38132152", "url": "https://glygen.org/publication/PubMed/38132152" } ] }, { "annotation": "Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. [provided by RefSeq, Sep 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_003604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604" } ] }, { "annotation": "Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions. Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage.", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339#function" }, { "database": "PubMed", "id": "15864306", "url": "https://glygen.org/publication/PubMed/15864306" }, { "database": "PubMed", "id": "12746903", "url": "https://glygen.org/publication/PubMed/12746903" } ] } ], "disease": [ { "disease_id": "DOID:90", "recommended_name": { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "degenerative disc disease", "description": "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc." }, "synonyms": [ { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "cervical disc degenerative disease", "description": "" }, { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "intervertebral disc degeneration", "description": "" }, { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "lumbar disc degeneration", "description": "" }, { "id": "DOID:90", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:90", "name": "vertebral disc disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disk degenerative disorder", "description": "Any disease of a degenerative nature that affects the intervertebral disk." }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "IDD", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "degenerative disc disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "degenerative disk disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "degenerative disorder of intervertebral disc", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "degenerative disorder of intervertebral disk", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral Disc Degeneration", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral Disc degenerative disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral Disc degenerative disorder", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disc degeneration", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disc disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disk degeneration", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disk degenerative disorder", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "intervertebral disk disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "vertebral Disc degenerative disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "vertebral Disc degenerative disorder", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "vertebral disc disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "vertebral disk disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "cervical disc degenerative disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "cervical disk degenerative disease", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "lumbar disc degeneration", "description": "" }, { "id": "MONDO:0011385", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011385", "name": "lumbar disk degeneration", "description": "" }, { "id": "MIM:603932", "resource": "MIM", "url": "https://www.omim.org/entry/603932", "name": "Intervertebral disc disease", "description": "Intervertebral disc disease" } ], "evidence": [ { "id": "603932", "database": "MIM", "url": "https://www.omim.org/entry/603932" } ] } ], "snv": [ { "evidence": [ { "id": "rs140085942", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140085942" }, { "id": "rs140085942", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs140085942" }, { "id": "rs140085942", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs140085942" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1056, "end_pos": 1056, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NDT->DDT).", "chr_id": "15", "chr_pos": "65197120", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1056", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs755314183", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755314183" }, { "id": "rs755314183", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs755314183" }, { "id": "rs755314183", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs755314183#frequency_tab" }, { "id": "rs755314183", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs755314183" } ], 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"Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->I).", "chr_id": "15", "chr_pos": "65206892", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75339", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75339" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 105, "end_pos": 105, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->N).", "chr_id": "15", "chr_pos": "65206892", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T105", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates 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"MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in 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 cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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": 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"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": 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hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75339", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75339" } ], "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": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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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": "O75339", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75339" } ], "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/O75339" } ], "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": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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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 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}, { "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": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "common_name": "Human" } ], "gene": [ { "name": "CILP", "url": "https://www.uniprot.org/uniprot/O75339", "locus": { "chromosome": "15", "start_pos": 65194760, "end_pos": 65211473, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000138615", "url": "https://www.ensembl.org/id/ENSG00000138615" } ] } } ], "crossref": [ { "id": "ENSG00000138615", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000138615", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75339", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75339", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00096", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00096", "database": "CDD", 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"https://www.ebi.ac.uk/interpro/entry/IPR003598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008969", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008969", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR025155", "url": "https://www.ebi.ac.uk/interpro/entry/IPR025155", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein 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"5383253at2759", "url": "http://www.orthodb.org/?query=5383253at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR15031", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15031", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15031:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15031:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00090", "url": "http://pfam.xfam.org/family/PF00090", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13330", "url": "http://pfam.xfam.org/family/PF13330", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13927", "url": "http://pfam.xfam.org/family/PF13927", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75339", "url": "https://pharos.nih.gov/targets/O75339", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000050828", "url": "https://proconsortium.org/app/entry/PR:000050828", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050829", "url": "https://proconsortium.org/app/entry/PR:000050829", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000050830", "url": "https://proconsortium.org/app/entry/PR:000050830", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_O75339", "url": "http://purl.obolibrary.org/obo/PR_O75339", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-2404192", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2404192", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003604", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003604", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75339", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75339-1", "url": "https://www.uniprot.org/uniprot/O75339-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MVGTKAWVFSFLVLEVTSVLGRQTMLTQSVRRVQPGKKNPSIFAKPADTLESPGEWTTWFNIDYPGGKGDYERLDAIRFYYGDRVCARPLRLEARTTDWTPAGSTGQVVHGSPREGFWCLNREQRPGQNCSNYTVRFLCPPGSLRRDTERIWSPWSPWSKCSAACGQTGVQTRTRICLAEMVSLCSEASEEGQHCMGQDCTACDLTCPMGQVNADCDACMCQDFMLHGAVSLPGGAPASGAAIYLLTKTPKLLTQTDSDGRFRIPGLCPDGKSILKITKVKFAPIVLTMPKTSLKAATIKAEFVRAETPYMVMNPETKARRAGQSVSLCCKATGKPRPDKYFWYHNDTLLDPSLYKHESKLVLRKLQQHQAGEYFCKAQSDAGAVKSKVAQLIVIASDETPCNPVPESYLIRLPHDCFQNATNSFYYDVGRCPVKTCAGQQDNGIRCRDAVQNCCGISKTEEREIQCSGYTLPTKVAKECSCQRCTETRSIVRGRVSAADNGEPMRFGHVYMGNSRVSMTGYKGTFTLHVPQDTERLVLTFVDRLQKFVNTTKVLPFNKKGSAVFHEIKMLRRKKPITLEAMETNIIPLGEVVGEDPMAELEIPSRSFYRQNGEPYIGKVKASVTFLDPRNISTATAAQTDLNFINDEGDTFPLRTYGMFSVDFRDEVTSEPLNAGKVKVHLDSTQVKMPEHISTVKLWSLNPDTGLWEEEGDFKFENQRRNKREDRTFLVGNLEIRERRLFNLDVPESRRCFVKVRAYRSERFLPSEQIQGVVISVINLEPRTGFLSNPRAWGRFDSVITGPNGACVPAFCDDQSPDAYSAYVLASLAGEELQAVESSPKFNPNAIGVPQPYLNKLNYRRTDHEDPRVKKTAFQISMAKPRPNSAEESNGPIYAFENLRACEEAPPSAAHFRFYQIEGDRYDYNTVPFNEDDPMSWTEDYLAWWPKPMEFRACYIKVKIVGPLEVNVRSRNMGGTHRQTVGKLYGIRDVRSTRDRDQPNVSAACLEFKCSGMLYDQDRVDRTLVKVIPQGSCRRASVNPMLHEYLVNHLPLAVNNDTSEYTMLAPLDPLGHNYGIYTVTDQDPRTAKEIALGRCFDGTSDGSSRIMKSNVGVALTFNCVERQVGRQSAFQYLQSTPAQSPAAGTVQGRVPSRRQQRASRGGQRQGGVVASLRFPRVAQQPLIN", "length": 1184, "header": "sp|O75339-1|CILP1_HUMAN Isoform 1 of Cartilage intermediate layer protein 1 OS=Homo sapiens OX=9606 GN=CILP PE=1 SV=4 CANONICAL=O75339-1" }, "isoforms": [ { "isoform_ac": "O75339-1", "url": "", "sequence": { "sequence": "MVGTKAWVFSFLVLEVTSVLGRQTMLTQSVRRVQPGKKNPSIFAKPADTLESPGEWTTWFNIDYPGGKGDYERLDAIRFYYGDRVCARPLRLEARTTDWTPAGSTGQVVHGSPREGFWCLNREQRPGQNCSNYTVRFLCPPGSLRRDTERIWSPWSPWSKCSAACGQTGVQTRTRICLAEMVSLCSEASEEGQHCMGQDCTACDLTCPMGQVNADCDACMCQDFMLHGAVSLPGGAPASGAAIYLLTKTPKLLTQTDSDGRFRIPGLCPDGKSILKITKVKFAPIVLTMPKTSLKAATIKAEFVRAETPYMVMNPETKARRAGQSVSLCCKATGKPRPDKYFWYHNDTLLDPSLYKHESKLVLRKLQQHQAGEYFCKAQSDAGAVKSKVAQLIVIASDETPCNPVPESYLIRLPHDCFQNATNSFYYDVGRCPVKTCAGQQDNGIRCRDAVQNCCGISKTEEREIQCSGYTLPTKVAKECSCQRCTETRSIVRGRVSAADNGEPMRFGHVYMGNSRVSMTGYKGTFTLHVPQDTERLVLTFVDRLQKFVNTTKVLPFNKKGSAVFHEIKMLRRKKPITLEAMETNIIPLGEVVGEDPMAELEIPSRSFYRQNGEPYIGKVKASVTFLDPRNISTATAAQTDLNFINDEGDTFPLRTYGMFSVDFRDEVTSEPLNAGKVKVHLDSTQVKMPEHISTVKLWSLNPDTGLWEEEGDFKFENQRRNKREDRTFLVGNLEIRERRLFNLDVPESRRCFVKVRAYRSERFLPSEQIQGVVISVINLEPRTGFLSNPRAWGRFDSVITGPNGACVPAFCDDQSPDAYSAYVLASLAGEELQAVESSPKFNPNAIGVPQPYLNKLNYRRTDHEDPRVKKTAFQISMAKPRPNSAEESNGPIYAFENLRACEEAPPSAAHFRFYQIEGDRYDYNTVPFNEDDPMSWTEDYLAWWPKPMEFRACYIKVKIVGPLEVNVRSRNMGGTHRQTVGKLYGIRDVRSTRDRDQPNVSAACLEFKCSGMLYDQDRVDRTLVKVIPQGSCRRASVNPMLHEYLVNHLPLAVNNDTSEYTMLAPLDPLGHNYGIYTVTDQDPRTAKEIALGRCFDGTSDGSSRIMKSNVGVALTFNCVERQVGRQSAFQYLQSTPAQSPAAGTVQGRVPSRRQQRASRGGQRQGGVVASLRFPRVAQQPLIN", "length": 1184, "header": "sp|O75339-1|CILP1_HUMAN Isoform 1 of Cartilage intermediate layer protein 1 OS=Homo sapiens OX=9606 GN=CILP PE=1 SV=4 CANONICAL=O75339-1" }, "locus": { "chromosome": "15", "start_pos": 65209755, "end_pos": 65196734, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261883.6", "url": "https://www.ensembl.org/id/ENST00000261883.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000261883.4", "url": "https://www.ensembl.org/id/ENSP00000261883.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1000, "start_aa": "Asn", "end_pos": 1000, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1000", "evidence": [ { "id": "O75339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75339#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "TPAGST", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 100, "start_aa": "Thr", "end_pos": 105, "end_aa": "Thr", "evidence": [ { "id": "O75339", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1056, "start_aa": "Asn", "end_pos": 1056, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1056", "evidence": [ { "id": "O75339", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75339#ptm_processing" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", 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"type": "PubMed", "id": "10319588", "url": "https://glygen.org/publication/PubMed/10319588" } ] }, { "title": "The human CILP gene: exon/intron organization and chromosomal mapping.", "journal": "Matrix biology : journal of the International Society for Matrix Biology", "date": "1999", "authors": "Lorenzo P, Aman P, Sommarin Y, Heinegard D", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "reference": [ { "type": "PubMed", "id": "10601732", "url": "https://glygen.org/publication/PubMed/10601732" } ] }, { "title": "Implication of cartilage intermediate layer protein in cartilage destruction in subsets of patients with osteoarthritis and rheumatoid arthritis.", "journal": "Arthritis Rheum.", "date": "2001", "authors": "Tsuruha J, Masuko-Hongo K, Kato T, Sakata M, Nakamura H, Nishioka K", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "reference": [ { "type": "PubMed", "id": "11315923", "url": "https://glygen.org/publication/PubMed/11315923" } ] }, { "title": "Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease.", "journal": "Arthritis Rheum.", "date": "2002", "authors": "Hirose Jun, Ryan Lawrence M, Masuda Ikuko", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "reference": [ { "type": "PubMed", "id": "12483726", "url": "https://glygen.org/publication/PubMed/12483726" } ] }, { "title": "One of two chondrocyte-expressed isoforms of cartilage intermediate-layer protein functions as an insulin-like growth factor 1 antagonist.", "journal": "Arthritis and rheumatism", "date": "2003", "authors": "Johnson K, Farley D, Hu SI, Terkeltaub R", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], 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Chem.", "date": "1998", "authors": "Lorenzo P, Bayliss M T, Heineg\u00e5rd D", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "reference": [ { "type": "PubMed", "id": "9722583", "url": "https://glygen.org/publication/PubMed/9722583" } ] }, { "title": "Cloning and deduced amino acid sequence of a novel cartilage protein (CILP) identifies a proform including a nucleotide pyrophosphohydrolase.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Lorenzo P, Neame P, Sommarin Y, Heinegard D", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339#ptm_processing" }, { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "reference": [ { "type": "PubMed", "id": "9722584", "url": "https://glygen.org/publication/PubMed/9722584" } ] } ], "pathway": [ { "id": "hsa:8483", "name": "", "url": 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"MAATKTWVLSFLVLEVTTVLGRQMMLTQSARRVQPVKRTPKILTKPVNSQESPGEWTTWFNIDHPGGQGDYERLDAIRFYYGERVCARPLRLEARTTDWMPAGITGQVVHGSPREGFWCLNKEQRPGQNCSNYTVRFLCPPGSLRRDTEHIWSSWSPWSACSAACGHTGVQTRTRTCLAQTVSLCNEATEEGQLCMSQACTACDLTCPMGQVNADCDACMCQDFMLHGAISLPGGGPAPGATVYLLAKAPKMLTQTDSSGSFRVPGLCPDGKTVLKVTKSKFAPIMITMPKTSLKSATINAEFVRAETPYIVMNPETKARRAGQSVSLCCKATGKPSPDKYFWYHNNTLLDPSLYKHQSKLVLRNLQQDQAGEYFCKAQSDAGAVKSKVTQLTVIAHDEAPCNPTPESYLIRLPHDCFQNATNSFYYDVGRCPIKTCAGQQDNGIRCQDAVENCCGISRTEEREIQCSGYTLPTKVAMECSCQRCAETRSIVRGRVTAADDGEPMRFGHVYMGNNRVSMTGYKGTFTLHVPQDTERLVLTFVDRLQKFVNTTKVLPFNKKGSAVFHEIKMLRQKEPITLEATETNIIPLGEVAGEDPVAELEIPPKSFYKQNGEPFTGKVKASVTFLDPRNVSTATATQSDLNFINDEGDTFPLRTYGMFSVDFRDEATSESLNAGKVKVHLDSTQVKMPEHARAMKLWSLNPNTGLWEEEGDFKFESQRRNKREERTFLVGNMEIRERRLFNLDVPESRRCFIKVRTYRSERFLPSEQIQGVVVSVINLEPRTGFSSNPRAWGRFDSVITGPNGACLPAFCDDQSPDAYSVYVLASLSGEELEAVESSPKFNPNAIGVPQPYLNKLKYRRTDHEDPRVKKTAFQISMAKPRPNSAEESNGPIYAFENLRACEEAPPSAAHFRFYQIEGDRYDYNTVPFNEDDPMSWTEDYLAWWPKPMEFRACYIKVKIVGPLEVNVRSRNMGGTHRQTVGKLYGIRDVKSTRDRDQPNVSSACLEFKCSGMLYDQDRVDRTLVKVIPQGSCHRASVNSMLHEYLVNHLPLAVNNDTSEYTMLAPLDPLGHNYGIYTVTDQDPGTAKEIALGRCFDGTSDGSSRIMKSNVGVALTFNCAERQVGRQSAFQYLQSTPARSPATGTVQGRVPAMRQQRASRGGLRRRGSMAPLRFSGVAQQPLSN", "length": 1184 }, "evidence": [ { "id": "45925939", "url": "http://www.informatics.jax.org/homology/45925939", "database": "MGI" }, { "id": "O75339", "url": "https://omabrowser.org/oma/group/O75339/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q66K08-1", "protein_name": "Cartilage intermediate layer protein 1", "gene_name": "Cilp", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAAIKTWVFSFLVLEVTTVLGRQTMLAQSVRRVQPVKRTPKTLAKPADSQESPGEWTTWFNIDHPGGQGDYERLDAIRFYYGERVCARPLRLEARTTDWMPAGSTGQVVHGSPREGFWCLNREQRPGQNCSNYTVRFLCPPGSLRGDAEHIWSSWSPWSKCSAACGHTGVQTRTRTCLAQTVSLCSEATEEGQLCMSQACTACDLTCPMGQVNADCDACMCQDFMLHGAISLPGGGPAPGAAVYLLAKAPKMLTRTDSSGRFRVPGLCPDGKTILKITKTKFAPIMITMPKTSLKSATINAEFVRAETPYIVMNPEMKARRAGQSVSLCCKATGKPSPDKYFWYHNNTLLDPSLYKHESKLVLRNLQQDQAGEYFCKAQSDAGAVKSKVTQLTVIAHDETPCNPTPESYLIRLPHDCFQNASNSFYYDVGRCPIKTCAGQQDNGIRCRDAVENCCGISRTEEREIQCSGYTLPTKVAVECSCQRCAETRSIVRGRVTATDNGEPMRFGHVYMGNNRVSMTGYKGTFTLHIPQDTERLVLTFVDRLQKFVNTTKVLPFNKKGSAVFHEIKMLRQKEPITLEAMETNIIPLGEVIGEDPVAELEIPSKSFYRQNGEPFTGKVKASVTFLDPRNISTATAAQSDLNFINDEGDTFPLRTYGMFSVDFRDEATSESLNAGKVKVHLDSTQVKMPEHVPAMKLWSLNPDTGLWEEEGDFKFESQRRNKREERTFLVGNMEIRERRLFNLDVPESRRCFIKVRTYRSERFLPSEQIQGVVVSVINLEPRTGFSSNPRAWGRFDSVITGPNGACLPAFCDDQSPDAYSVYVLASLSGEELEAVESSPKFNPNAIGVPQPYLNKLKYRRTDHEDPRVKKTAFQISMAKPRPNSAEESNGPIYAFENLRACEEAPPSAAHFRFYQIEGDRYDYNTVPFNEDDPMSWTEDYLAWWPKPMEFRACYIKVKIVGPLEVNVRSRNMGGTHRQTVGKLYGIRDVKSTRDRDQPNVSSACLEFKCSGMLYDQDRVDRTLVKVIPQGSCHRASVNSMLHEYLVNHLPLAVNNDTSEYTMLAPLDPLGHNYGIYTVTDQDPRTAKEIALGRCFDGTSDGSSRIMKSNVGVALTFNCAERQVGRQSAFQYLQSTPARSPATGTVQGRVPAMRQQRASRGGLRRRGSMAPLRFSGVAQQPLSN", "length": 1184 }, "evidence": [ { "id": "45925939", "url": "http://www.informatics.jax.org/homology/45925939", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 3, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 4, "go_terms": [ { "name": "negative regulation of gene expression", "id": "GO:0010629", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010629", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "pmid": "" }, { "name": "negative regulation of transforming growth factor beta receptor signaling pathway", "id": "GO:0030512", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030512", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "pmid": "" }, { "name": "negative regulation of insulin-like growth factor receptor signaling pathway", "id": "GO:0043569", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043569", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "pmid": "" }, { "name": "negative regulation of SMAD protein signal transduction", "id": "GO:0060392", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060392", "evidence": [ { "database": "UniProtKB", "id": "O75339", "url": "https://www.uniprot.org/uniprot/O75339" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "cartilage intermediate layer protein 1 O-glycosylated 1 (human)", "definition": "A cartilage intermediate layer protein 1 (human) that has been O-glycosylated at the residue equivalent to Ser-1135 of the amino acid sequence represented by UniProtKB:O75339-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:O75339-1, Ser-1135, MOD:00002~GNO:G53434XO. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050828", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050828" } ] }, { "name": "cartilage intermediate layer protein 1 O-glycosylated 2 (human)", "definition": "A cartilage intermediate layer protein 1 (human) that has been O-glycosylated at the residue equivalent to Ser-1140 of the amino acid sequence represented by UniProtKB:O75339-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75339-1, Ser-1140, MOD:00002~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050829", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050829" } ] }, { "name": "cartilage intermediate layer protein 1 O-glycosylated 3 (human)", "definition": "A cartilage intermediate layer protein 1 (human) that has been O-glycosylated at the residue equivalent to Thr-1136 of the amino acid sequence represented by UniProtKB:O75339-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:O75339-1, Thr-1136, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000050830", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000050830" } ] } ], "site_annotation": [ { "start_pos": 1000, "end_pos": 1002, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1056, "end_pos": 1058, "annotation": "n_glycosylation_sequon" }, { "start_pos": 129, "end_pos": 131, "annotation": "n_glycosylation_sequon" }, { "start_pos": 132, "end_pos": 134, "annotation": "n_glycosylation_sequon" }, { "start_pos": 346, "end_pos": 348, "annotation": "n_glycosylation_sequon" }, { "start_pos": 420, "end_pos": 422, "annotation": "n_glycosylation_sequon" }, { "start_pos": 550, "end_pos": 552, "annotation": "n_glycosylation_sequon" }, { "start_pos": 631, "end_pos": 633, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 129, 132, 346, 420, 550, 631, 1000, 1056 ], "o_linked_sites": [ 96, 97, 100, 105, 1127, 1135, 1136, 1140, 1145 ], "snv_sites": [ 40, 96, 105, 131, 132, 134, 136, 145, 204, 291, 346, 348, 422, 445, 448, 552, 587, 631, 633, 724, 760, 806, 814, 847, 936, 1056, 1057, 1101, 1140 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 1000, "end_pos": 1002 }, { "start_pos": 1056, "end_pos": 1058 }, { "start_pos": 129, "end_pos": 131 }, { "start_pos": 132, "end_pos": 134 }, { "start_pos": 346, "end_pos": 348 }, { "start_pos": 420, "end_pos": 422 }, { "start_pos": 550, "end_pos": 552 }, { "start_pos": 631, "end_pos": 633 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 38 }, { "field": "total_sites", "count": 16 }, { "field": "n_linked_glycans", "count": 13 }, { "field": "n_linked_glycan_sites", "count": 13 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "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_reported", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_reported_with_glycan", "table_stats": [ { "field": "total", "count": 30 }, { "field": "total_sites", "count": 13 }, { "field": "n_linked_glycans", "count": 13 }, { "field": "n_linked_glycan_sites", "count": 5 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 8 } ], "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": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "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_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": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 35 }, { "field": "total_sites", "count": 29 } ], "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": 9 }, { "field": "total_sites", "count": 9 } ], "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": 26 }, { "field": "total_sites", "count": 22 } ], "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": "publication", "table_stats": [ { "field": "total", "count": 35 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }