{ "uniprot_canonical_ac": "O75718-1", "uniprot_ac": "O75718", "uniprot_id": "CRTAP_HUMAN", "mass": { "chemical_mass": 46562.0, "monoisotopic_mass": 46562.0 }, "refseq": { "ac": "NP_006362", "name": "cartilage-associated protein isoform 1 precursor", "summary": "The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362" }, "gene_names": [ { "name": "CRTAP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75718", "id": "O75718" }, { "name": "CASP; LEPREL3; OI7; P3H5", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362", "id": "NP_006362" }, { "name": "CASP", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75718", "id": "O75718" }, { "name": "CRTAP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362", "id": "NP_006362" } ], "protein_names": [ { "name": "Cartilage-associated protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75718" }, { "name": "cartilage-associated protein isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362", "id": "NP_006362" }, { "name": "leprecan-like 3; prolyl 3-hydroxylase family member 5 (non-enzymatic)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362", "id": "NP_006362" } ], "function": [ { "annotation": "An additional function of the rough endoplasmic reticulum protein complex prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B: the CXXXC motif reveals disulfide isomerase activity in vitro.", "evidence": [ { "database": "RefSeq", "id": "NP_006362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362" }, { "database": "PubMed", "id": "24043621", "url": "https://glygen.org/publication/PubMed/24043621" } ] }, { "annotation": "Complexes with prolyl 3-hydroxylase 1 (P3H1) to decrease prolyl 3 hydroxylation; dysregulation of prolyl 3 hydroxylation is a mechanism for connective tissue disease", "evidence": [ { "database": "RefSeq", "id": "NP_006362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362" }, { "database": "PubMed", "id": "17055431", "url": "https://glygen.org/publication/PubMed/17055431" } ] }, { "annotation": "Necessary for efficient 3-hydroxylation of fibrillar collagen prolyl residues.", "evidence": [ { "database": "UniProtKB", "id": "O75718", "url": "https://www.uniprot.org/uniprot/O75718#function" }, { "database": "PubMed", "id": "17055431", "url": "https://glygen.org/publication/PubMed/17055431" } ] }, { "annotation": "Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.", "evidence": [ { "database": "RefSeq", "id": "NP_006362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362" }, { "database": "PubMed", "id": "35703132", "url": "https://glygen.org/publication/PubMed/35703132" } ] }, { "annotation": "Osteogenesis imperfecta caused by COL1A1, CRTAP and LEPRE1 mutations. Report of 2cases.', trans 'Osteogenesis imperfecta causada por mutacion en los genes COL1A1, CRTAP y LEPRE1. Estudio de 2casos.", "evidence": [ { "database": "RefSeq", "id": "NP_006362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362" }, { "database": "PubMed", "id": "30389107", "url": "https://glygen.org/publication/PubMed/30389107" } ] }, { "annotation": "Screening of 78 subjects diagnosed with osteogenesis imperfecta type II or III, identified three probands with mutations in CRTAP and 16 with mutations in LEPRE1.", "evidence": [ { "database": "RefSeq", "id": "NP_006362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362" }, { "database": "PubMed", "id": "18566967", "url": "https://glygen.org/publication/PubMed/18566967" } ] }, { "annotation": "The protein encoded by this gene is similar to the chicken and mouse CRTAP genes. The encoded protein is a scaffolding protein that may influence the activity of at least one member of the cytohesin/ARNO family in response to specific cellular stimuli. Defects in this gene are associated with osteogenesis imperfecta, a connective tissue disorder characterized by bone fragility and low bone mass. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_006362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362" } ] }, { "annotation": "This study enhances our knowledge about the mutational pattern of the LEPRE1, CRTAP, and PPIB genes. LEPRE1 should be the first gene analyzed in mutation detection studies in patients with recessive OI. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362" }, { "database": "PubMed", "id": "26634552", "url": "https://glygen.org/publication/PubMed/26634552" } ] }, { "annotation": "To the best of our knowledge, our study is the first to exclude potential correlations between heterozygous variants in CRTAP and milder skeletal impairments in a large number of patients", "evidence": [ { "database": "RefSeq", "id": "NP_006362", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006362" }, { "database": "PubMed", "id": "27901313", "url": "https://glygen.org/publication/PubMed/27901313" } ] } ], "disease": [ { "disease_id": "DOID:0110337", "recommended_name": { "id": "DOID:0110337", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110337", "name": "osteogenesis imperfecta type 7", "description": "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22." }, "synonyms": [ { "id": "DOID:0110337", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110337", "name": "OI7", "description": "" }, { "id": "DOID:0110337", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110337", "name": "osteogenesis imperfecta type VII", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "osteogenesis imperfecta type 7", "description": "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "CRTAP osteogenesis imperfecta", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "OI7", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "osteogenesis imperfecta caused by mutation in CRTAP", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "osteogenesis imperfecta type 7", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "osteogenesis imperfecta type VII", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "OI type 7", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "OI type VII", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "OI, type 7", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "osteogenesis imperfecta, type 7", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "osteogenesis imperfecta, type IIb", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "osteogenesis imperfecta, type IIb, formerly", "description": "" }, { "id": "MONDO:0012536", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012536", "name": "osteogenesis imperfecta, type VII", "description": "" }, { "id": "MIM:610682", "resource": "MIM", "url": "https://www.omim.org/entry/610682", "name": "Osteogenesis imperfecta 7", "description": "Osteogenesis imperfecta 7" } ], "evidence": [ { "id": "610682", "database": "MIM", "url": "https://www.omim.org/entry/610682" } ] } ], "snv": [ { "evidence": [ { "id": "O75718", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75718" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 365, "end_pos": 365, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-loss (NVT->NVI); o-glyco-site-loss (T->I).", "chr_id": "3", "chr_pos": "33134207", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "T365", "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 in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "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": "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs747963418", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747963418" }, { "id": "rs747963418", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747963418" }, { "id": "rs747963418", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747963418" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 89, "end_pos": 89, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->NCN); o-glyco-site-loss (S->N).", "chr_id": "3", "chr_pos": "33114343", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S89", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1230212120", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1230212120" }, { "id": "rs1230212120", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1230212120#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 102, "end_pos": 102, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->R).", "chr_id": "3", "chr_pos": "33114381", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S102", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs751267437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751267437" }, { "id": "rs751267437", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751267437" }, { "id": "rs751267437", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs751267437" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 186, "end_pos": 186, "sequence_org": "A", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMA->NMS).", "chr_id": "3", "chr_pos": "33120428", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A186", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs753943184", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753943184" }, { "id": "rs753943184", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs753943184" }, { "id": "rs753943184", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs753943184#frequency_tab" }, { "id": "rs753943184", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs753943184" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 54, "end_pos": 54, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KYS->NYS).", "chr_id": "3", "chr_pos": "33114239", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K54", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1224133201", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1224133201" }, { "id": "rs1224133201", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1224133201#frequency_tab" }, { "id": "rs1224133201", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1224133201" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 87, "end_pos": 87, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->KCS).", "chr_id": "3", "chr_pos": "33114338", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N87", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1322693360", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1322693360" }, { "id": "rs1322693360", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1322693360#frequency_tab" }, { "id": "rs1322693360", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1322693360" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 87, "end_pos": 87, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCS->SCS).", "chr_id": "3", "chr_pos": "33114337", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N87", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "87.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "90.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.56", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "86.79", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.2", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "97.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "73.45", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "98.32", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "96.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "76.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.88", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "97.64", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75718", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75718" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": 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"" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", 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"id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": 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"" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75718", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75718" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75718", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75718" } ], "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/O75718" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75718", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75718" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75718", "url": "https://www.uniprot.org/uniprot/O75718" } ], "common_name": "Human" } ], "gene": [ { "name": "CRTAP", "url": "https://www.uniprot.org/uniprot/O75718", "locus": { "chromosome": "3", "start_pos": 38816, "end_pos": 5001, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_4", "url": "https://www.ensembl.org/id/LRG_4" } ] } } ], "crossref": [ { "id": "ENSG00000170275", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170275", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75718", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75718", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "CRTAP", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=CRTAP", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "10491", "url": "https://www.ncbi.nlm.nih.gov/gene/10491", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "1074", "url": "https://glyconnect.expasy.org/browser/proteins/1074", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "2379", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=2379", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75718", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75718*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR011990", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011990", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:10491", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10491", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605497", "url": "http://www.omim.org/entry/605497", "database": "MIM", "categories": [ "Other" ] }, { "id": "610682", "url": "http://www.omim.org/entry/610682", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75718", "url": "https://www.nextprot.org/entry/NX_O75718", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75718", "url": "https://oglcnac.org/atlas/detail/O75718", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "O75718", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75718", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WPETVEY", "url": "https://omabrowser.org/oma/group/WPETVEY/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5398065at2759", "url": "http://www.orthodb.org/?query=5398065at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR13986", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13986", "database": "PANTHER", "categories": [ "Protein 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A procollagen III N-proteinase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Wang WM, Lee S, Steiglitz BM, Scott IC, Lebares CC, Allen ML, Brenner MC, Takahara K, Greenspan DS", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "12646579", "url": "https://glygen.org/publication/PubMed/12646579" } ] }, { "title": "Characterization of the human prolyl 4-hydroxylase tetramer and its multifunctional protein disulfide-isomerase subunit synthesized in a baculovirus expression system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Vuori K, Pihlajaniemi T, Marttila M, Kivirikko KI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "1323838", 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"title": "Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.", "journal": "Molecular and cellular biology", "date": "2009", "authors": "Schegg B, Hulsmeier AJ, Rutschmann C, Maag C, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "19075007", "url": "https://glygen.org/publication/PubMed/19075007" } ] }, { "title": "CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.", "journal": "European journal of human genetics : EJHG", "date": "2009", "authors": "Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G", "evidence": [ { "database": "UniProtKB", "id": "O75718", "url": 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isomerase acts as a molecular chaperone during the assembly of procollagen.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Wilson R, Lees JF, Bulleid NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9545296", "url": "https://glygen.org/publication/PubMed/9545296" } ] }, { "title": "Thiol-independent interaction of protein disulphide isomerase with type X collagen during intra-cellular folding and assembly.", "journal": "The Biochemical journal", "date": "1998", "authors": "McLaughlin SH, Bulleid NJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-1650814", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1650814" } ], "reference": [ { "type": "PubMed", "id": "9560306", "url": "https://glygen.org/publication/PubMed/9560306" } ] }, { "title": "Primary structure, tissue distribution, and chromosomal localization of a 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