{ "uniprot_canonical_ac": "O00458-1", "uniprot_ac": "O00458", "uniprot_id": "IFRD1_HUMAN", "mass": { "chemical_mass": 50269.0, "monoisotopic_mass": 50269.0 }, "refseq": { "ac": "NP_001007246", "name": "interferon-related developmental regulator 1 isoform 1", "summary": "This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, "gene_names": [ { "name": "IFRD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00458", "id": "O00458" }, { "name": "IFRD1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246", "id": "NP_001007246" }, { "name": "PC4; TIS7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246", "id": "NP_001007246" } ], "protein_names": [ { "name": "Interferon-related developmental regulator 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00458" }, { "name": "Nerve growth factor-inducible protein PC4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00458" }, { "name": "interferon-related developmental regulator 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246", "id": "NP_001007246" }, { "name": "nerve growth factor-inducible protein PC4; pheochromocytoma cell-4; TPA induced sequence 7; 12-O-tetradecanoylphorbol-13-acetate-induced sequence 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246", "id": "NP_001007246" } ], "function": [ { "annotation": "Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand-induced signal (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O00458", "url": "https://www.uniprot.org/uniprot/O00458#function" } ] }, { "annotation": "Functional ablation of PC4/IFRD1 in myoblast cells by sense and antisense strategies as well as by microinjection of PC4/IFRD1 antibodies, inhibits differentiation. GeneRIF: In the absence of PC4/IFRD1 skeletal muscle differentiation is defective.", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, { "database": "PubMed", "id": "7756174", "url": "https://glygen.org/publication/PubMed/7756174" } ] }, { "annotation": "High IFRD1 colon cancer expression was significantly associated with decreased 5-year patient survival.", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, { "database": "PubMed", "id": "29094309", "url": "https://glygen.org/publication/PubMed/29094309" } ] }, { "annotation": "IFRD1 mRNA decay stress-sensitive regulation is mediated by an upstream open reading frame", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, { "database": "PubMed", "id": "20080976", "url": "https://glygen.org/publication/PubMed/20080976" } ] }, { "annotation": "IFRD1 regulates the asthmatic responses of airway via NF-kappaB pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, { "database": "PubMed", "id": "32992150", "url": "https://glygen.org/publication/PubMed/32992150" } ] }, { "annotation": "Identification of the IFRD gene family, comprising the two genes PC4 / Tis7 / IFRD1 and SKMc15 / IFRD2, and in situ-hybridization analysis of their expression during developments", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, { "database": "PubMed", "id": "9722946", "url": "https://glygen.org/publication/PubMed/9722946" } ] }, { "annotation": "Insights on the disruption of the complex between human positive coactivator 4 and p53 by small molecules.", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, { "database": "PubMed", "id": "34534740", "url": "https://glygen.org/publication/PubMed/34534740" } ] }, { "annotation": "Sequence conservation, animal models, and protein structure evaluation support the involvement of IFRD1 in SMNA", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, { "database": "PubMed", "id": "19409521", "url": "https://glygen.org/publication/PubMed/19409521" } ] }, { "annotation": "This gene is an immediate early gene that encodes a protein related to interferon-gamma. This protein may function as a transcriptional co-activator/repressor that controls the growth and differentiation of specific cell types during embryonic development and tissue regeneration. Mutations in this gene are associated with sensory/motor neuropathy with ataxia. This gene may also be involved in modulating the pathogenesis of cystic fibrosis lung disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ] }, { "annotation": "This reference (Tirone and Shooter 1989) shows the cloning and the sequence of the original IFRD1 homolog, isolated in rat as NGF-inducible immediate early gene (named PC4). GeneRIF: This reference shows the cloning and the sequence of the original IFRD1 homolog isolated in rat as nerve growth factor-inducible immediate early gene (named PC4).", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, { "database": "PubMed", "id": "2467301", "url": "https://glygen.org/publication/PubMed/2467301" } ] }, { "annotation": "This reference shows the cloning and the sequence of the original IFRD1 homolog isolated in mouse as TPA-inducible immediate early gene (named Tis7).", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" }, { "database": "PubMed", "id": "2797820", "url": "https://glygen.org/publication/PubMed/2797820" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "84.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "89.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "88.65", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "94.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "93.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "77.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "92.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "94.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "93.86", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "96.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "96.54", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000006652", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000006652" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00458", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00458" } ], "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": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "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", "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "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": "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 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": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00458", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00458" } ], "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": "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", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00458", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00458" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O00458", "url": 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"" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "O00458", "url": "https://www.uniprot.org/uniprot/O00458", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00458-1", "url": "https://www.uniprot.org/uniprot/O00458-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00458-2", "url": "https://www.uniprot.org/uniprot/O00458-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPKNKKRNTPHRGSSAGGGGSGAAAATAATAGGQHRNVQPFSDEDASIETMSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKGKSDEQRAAAALASVLCIQLGPGIESEEILKTLGPILKKIICDGSASMQARQTCATCFGVCCFIATDDITELYSTLECLENIFTKSYLKEKDTTVICSTPNTVLHISSLLAWTLLLTICPINEVKKKLEMHFHKLPSLLSCDDVNMRIAAGESLALLFELARGIESDFFYEDMESLTQMLRALATDGNKHRAKVDKRKQRSVFRDVLRAVEERDFPTETIKFGPERMYIDCWVKKHTYDTFKEVLGSGMQYHLQSNEFLRNVFELGPPVMLDAATLKTMKISRFERHLYNSAAFKARTKARSKCRDKRADVGEFF", "length": 451, "header": "sp|O00458-1|IFRD1_HUMAN Isoform 1 of Interferon-related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=1 SV=4 CANONICAL=O00458-1" }, "isoforms": [ { "isoform_ac": "A0A6Q8PF03-1", "url": "", "sequence": { "sequence": "MSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKGKSDEQRAAAALASVLCIQLGPGIESEEILKTLGPILKKIICDGSASMQARQTCATCFGVCCFIATDDITELYSTLECLENIFTKSYLKEKDTTVICSTPNTVLHISSLLAWTLLLTICPINEVKKKLEMHFHKLPSLLSCDDVNMRIAAGESLALLFELARGIESFISL", "length": 256, "header": "tr|A0A6Q8PF03-1|A0A6Q8PF03_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=3 SV=1 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112465626, "end_pos": 112455819, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675041.1", "url": "https://www.ensembl.org/id/ENST00000675041.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501576.1", "url": "https://www.ensembl.org/id/ENSP00000501576.1" } ] } }, { "isoform_ac": "A0A6Q8PFA5-1", "url": "", "sequence": { "sequence": "MPKNKKRNTPHRGSSAGGGGSGAAAATAATAGGQHRNVQPFSDEDASIETMSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKAGPWN", "length": 141, "header": "tr|A0A6Q8PFA5-1|A0A6Q8PFA5_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=4 SV=1 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112458930, "end_pos": 112450689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675717.1", "url": "https://www.ensembl.org/id/ENST00000675717.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501686.1", "url": "https://www.ensembl.org/id/ENSP00000501686.1" } ] } }, { "isoform_ac": "A0A6Q8PH75-1", "url": "", "sequence": { "sequence": "MPKNKKRNTPHRGSSAGGGGSGAAAATAATAGGQHRNVQPFSDEDASIETMSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKGKSDEQRAAAALASVLCIQLGPGIESEEILKTLGPILKKIICDGSASMQARQTCATCFGVCCFIATDDITELYSTLECLENIFTKSYLKEKDTTVICSTPNTVLHISSLLAWTLLLTICPINEVKKKLEMHFHKLPSLLSCDDVNMRIAAGESLALLFELARGIESDFFYEDMESLTQMLRALATDGNKHRAKVDKRKQRSVFRDVLRAVESMVG", "length": 351, "header": "tr|A0A6Q8PH75-1|A0A6Q8PH75_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=3 SV=1 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112470910, "end_pos": 112450689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674915.1", "url": "https://www.ensembl.org/id/ENST00000674915.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502525.1", "url": "https://www.ensembl.org/id/ENSP00000502525.1" } ] } }, { "isoform_ac": "A0A6Q8PHN0-1", "url": "", "sequence": { "sequence": "MSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKGKSDEQRAAAALASVLCIQLGPGIESEEILKTLGPILKKIICDGSASMQARQTCATCFGVCCFIATDDITELYSTLECLENIFTKSYLKEKDTTVICSTPNTVLHISSLLAWTLLLTICPINEVKKKLEMHFHKLPSLLSCDDVNMRIAAGESLALLFELARGIESEMWVVITVI", "length": 261, "header": "tr|A0A6Q8PHN0-1|A0A6Q8PHN0_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=3 SV=1 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112465665, "end_pos": 112455819, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674887.1", "url": "https://www.ensembl.org/id/ENST00000674887.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502760.1", "url": "https://www.ensembl.org/id/ENSP00000502760.1" } ] } }, { "isoform_ac": "C9J311-1", "url": "", "sequence": { "sequence": "MPKNKKRNTPHRGSSAGGGGSGAAAATAAT", "length": 30, "header": "tr|C9J311-1|C9J311_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=4 SV=8 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112450778, "end_pos": 112450689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000432734.1", "url": "https://www.ensembl.org/id/ENST00000432734.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000391379.1", "url": "https://www.ensembl.org/id/ENSP00000391379.1" } ] } }, { "isoform_ac": "C9J7U6-1", "url": "", "sequence": { "sequence": "MSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDL", "length": 40, "header": "tr|C9J7U6-1|C9J7U6_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=4 SV=2 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112456072, "end_pos": 112455819, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000443101.6", "url": "https://www.ensembl.org/id/ENST00000443101.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000397592.2", "url": "https://www.ensembl.org/id/ENSP00000397592.2" } ] } }, { "isoform_ac": "C9JA65-1", "url": "", "sequence": { "sequence": "MPKNKKRNTPHRGSSAGGGGSGAAAATAATAGGQHRNVQPFSDEDASIETMSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKGNALIFESQTYN", "length": 148, "header": "tr|C9JA65-1|IFRD1_HUMAN Computationally mapped isoform of Interferon-related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=1 SV=1 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112457073, "end_pos": 112450689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429071.5", "url": "https://www.ensembl.org/id/ENST00000429071.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000397314.1", "url": "https://www.ensembl.org/id/ENSP00000397314.1" } ] } }, { "isoform_ac": "C9JK78-1", "url": "", "sequence": { "sequence": "MPKNKKRNTPHRGSSAG", "length": 17, "header": "tr|C9JK78-1|IFRD1_HUMAN Computationally mapped isoform of Interferon-related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=1 SV=8 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112450739, "end_pos": 112450689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417662.1", "url": "https://www.ensembl.org/id/ENST00000417662.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000413893.1", "url": "https://www.ensembl.org/id/ENSP00000413893.1" } ] } }, { "isoform_ac": "C9JLG5-1", "url": "", "sequence": { "sequence": "MPKNKKRNTPHRGSSAGGGGSGAAAATAATAGGQHRNVQPFSDEDASIETMSHCSGYSDPSS", "length": 62, "header": "tr|C9JLG5-1|C9JLG5_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=1 SV=1 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112455854, "end_pos": 112450689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445335.1", "url": "https://www.ensembl.org/id/ENST00000445335.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000402453.1", "url": "https://www.ensembl.org/id/ENSP00000402453.1" } ] } }, { "isoform_ac": "C9JNM6-1", "url": "", "sequence": { "sequence": "MSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKGKSDEQRAAAALASVLCIQLGPGIESEEILKTLGPILKKII", "length": 127, "header": "tr|C9JNM6-1|C9JNM6_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=1 SV=1 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112458982, "end_pos": 112455819, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440625.5", "url": "https://www.ensembl.org/id/ENST00000440625.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402177.1", "url": "https://www.ensembl.org/id/ENSP00000402177.1" } ] } }, { "isoform_ac": "E9PMY4-1", "url": "", "sequence": { "sequence": "MSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKGKSDEQRAAAALASVLC", "length": 103, "header": "tr|E9PMY4-1|E9PMY4_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=1 SV=1 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112458910, "end_pos": 112455819, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000476927.5", "url": "https://www.ensembl.org/id/ENST00000476927.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000437250.1", "url": "https://www.ensembl.org/id/ENSP00000437250.1" } ] } }, { "isoform_ac": "H0YEE3-1", "url": "", "sequence": { "sequence": "VFRDVLRAVEERDFPTETIKFGPERMYIDCWVKKHTYDTFKEVLGSGMQYHLQSNEFLRNVFELGPPVMLDAATLKTMKISRFERFSGLSGVFASQSS", "length": 98, "header": "tr|H0YEE3-1|H0YEE3_HUMAN Computationally mapped isoform of Interferon related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=4 SV=1 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112480874, "end_pos": 112468086, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000462155.2", "url": "https://www.ensembl.org/id/ENST00000462155.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000435635.1", "url": "https://www.ensembl.org/id/ENSP00000435635.1" } ] } }, { "isoform_ac": "O00458-1", "url": "", "sequence": { "sequence": "MPKNKKRNTPHRGSSAGGGGSGAAAATAATAGGQHRNVQPFSDEDASIETMSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKGKSDEQRAAAALASVLCIQLGPGIESEEILKTLGPILKKIICDGSASMQARQTCATCFGVCCFIATDDITELYSTLECLENIFTKSYLKEKDTTVICSTPNTVLHISSLLAWTLLLTICPINEVKKKLEMHFHKLPSLLSCDDVNMRIAAGESLALLFELARGIESDFFYEDMESLTQMLRALATDGNKHRAKVDKRKQRSVFRDVLRAVEERDFPTETIKFGPERMYIDCWVKKHTYDTFKEVLGSGMQYHLQSNEFLRNVFELGPPVMLDAATLKTMKISRFERHLYNSAAFKARTKARSKCRDKRADVGEFF", "length": 451, "header": "sp|O00458-1|IFRD1_HUMAN Isoform 1 of Interferon-related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=1 SV=4 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112475516, "end_pos": 112450689, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000675578.1", "url": "https://www.ensembl.org/id/ENST00000675578.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000502336.1", "url": "https://www.ensembl.org/id/ENSP00000502336.1" } ] } }, { "isoform_ac": "O00458-2", "url": "", "sequence": { "sequence": "MSHCSGYSDPSSFAEDGPEVLDEEGTQEDLEYKLKGLIDLTLDKSAKTRQAALEGIKNALASKMLYEFILERRMTLTDSIERCLKKGKSDEQRAAAALASVLCIQLGPGIESEEILKTLGPILKKIICDGSASMQARQTCATCFGVCCFIATDDITELYSTLECLENIFTKSYLKEKDTTVICSTPNTVLHISSLLAWTLLLTICPINEVKKKLEMHFHKLPSLLSCDDVNMRIAAGESLALLFELARGIESDFFYEDMESLTQMLRALATDGNKHRAKVDKRKQRSVFRDVLRAVEERDFPTETIKFGPERMYIDCWVKKHTYDTFKEVLGSGMQYHLQSNEFLRNVFELGPPVMLDAATLKTMKISRFERHLYNSAAFKARTKARSKCRDKRADVGEFF", "length": 401, "header": "sp|O00458-2|IFRD1_HUMAN Isoform 2 of Interferon-related developmental regulator 1 OS=Homo sapiens OX=9606 GN=IFRD1 PE=1 SV=4 CANONICAL=O00458-1" }, "locus": { "chromosome": "7", "start_pos": 112475516, "end_pos": 112455819, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000621379.4", "url": "https://www.ensembl.org/id/ENST00000621379.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000483255.1", "url": "https://www.ensembl.org/id/ENSP00000483255.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O00458", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00458" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 116, "end_pos": 116, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00458", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00458" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Tyr116" }, { "start_pos": 21, "end_pos": 21, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "O00458", "url": "http://phospho.elm.eu.org/byAccession/O00458.html" }, { "database": "iPTMnet", "id": "O00458", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00458" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ], "site_lbl": "Ser21" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O00458", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00458" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.", "journal": "American journal of human genetics", "date": "2009", "authors": "Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ], "reference": [ { "type": "PubMed", "id": "19409521", "url": "https://glygen.org/publication/PubMed/19409521" } ] }, { "title": "Phosphoproteomic analysis of human embryonic stem cells.", "journal": "Cell stem cell", "date": "2009", "authors": "Brill LM, Xiong W, Lee KB, Ficarro SB, Crain A, Xu Y, Terskikh A, Snyder EY, Ding S", "evidence": [ { "database": "iPTMnet", "id": "O00458-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00458-1" } ], "reference": [ { "type": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ] }, { "title": "Stress-sensitive regulation of IFRD1 mRNA decay is mediated by an upstream open reading frame.", "journal": "The Journal of biological chemistry", "date": "2010", "authors": "Zhao C, Datta S, Mandal P, Xu S, Hamilton T", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ], "reference": [ { "type": "PubMed", "id": "20080976", "url": "https://glygen.org/publication/PubMed/20080976" } ] }, { "title": "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.", "journal": "Nature", "date": "2011", "authors": "Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, Tuveson DA, Perez-Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust A, Chan-on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT, Stratton MR, Futreal PA", "evidence": [ { "database": "UniProtKB", "id": "O00458", "url": "https://www.uniprot.org/uniprot/O00458" } ], "reference": [ { "type": "PubMed", "id": "21248752", "url": "https://glygen.org/publication/PubMed/21248752" } ] }, { "title": "Early gene regulation by nerve growth factor in PC12 cells: induction of an interferon-related gene.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1989", "authors": "Tirone F, Shooter EM", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ], "reference": [ { "type": "PubMed", "id": "2467301", "url": "https://glygen.org/publication/PubMed/2467301" } ] }, { "title": "Characterization of TIS7, a gene induced in Swiss 3T3 cells by the tumor promoter tetradecanoyl phorbol acetate.", "journal": "Oncogene", "date": "1989", "authors": "Varnum BC, Lim RW, Herschman HR", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ], "reference": [ { "type": "PubMed", "id": "2797820", "url": "https://glygen.org/publication/PubMed/2797820" } ] }, { "title": "Increased IFRD1 Expression in Human Colon Cancers Predicts Reduced Patient Survival.", "journal": "Digestive diseases and sciences", "date": "2017", "authors": "Lewis MA, Sharabash N, Miao ZF, Lyons LN, Piccirillo J, Kallogjeri D, Schootman M, Mutch M, Yan Y, Levin MS, Castells A, Cuatrecasas M, Mills JC, Wang ZN, Rubin DC", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ], "reference": [ { "type": "PubMed", "id": "29094309", "url": "https://glygen.org/publication/PubMed/29094309" } ] }, { "title": "IFRD1 regulates the asthmatic responses of airway via NF-kappaB pathway.", "journal": "Molecular immunology", "date": "2020", "authors": "Chang M, Zhang Y, Hui Z, Wang D, Guo H", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ], "reference": [ { "type": "PubMed", "id": "32992150", "url": "https://glygen.org/publication/PubMed/32992150" } ] }, { "title": "Insights on the disruption of the complex between human positive coactivator 4 and p53 by small molecules.", "journal": "Biochemical and biophysical research communications", "date": "2021", "authors": "Pandey B, Dev A, Chakravorty D, Bhandare VV, Polley S, Roy S, Basu G", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ], "reference": [ { "type": "PubMed", "id": "34534740", "url": "https://glygen.org/publication/PubMed/34534740" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00458", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00458" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "Inhibition of differentiation in myoblasts deprived of the interferon-related protein PC4.", "journal": "Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research", "date": "1995", "authors": "Guardavaccaro D, Ciotti MT, Schafer BW, Montagnoli A, Tirone F", "evidence": [ { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ], "reference": [ { "type": "PubMed", "id": "7756174", "url": "https://glygen.org/publication/PubMed/7756174" } ] }, { "title": "Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes.", "journal": "Genomics", "date": "1998", "authors": "Buanne P, Incerti B, Guardavaccaro D, Avvantaggiato V, Simeone A, Tirone F", "evidence": [ { "database": "UniProtKB", "id": "O00458", "url": "https://www.uniprot.org/uniprot/O00458" }, { "database": "RefSeq", "id": "NP_001007246", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001007246" } ], "reference": [ { "type": "PubMed", "id": "9722946", "url": "https://glygen.org/publication/PubMed/9722946" } ] }, { "title": "Isolation of cDNAs encoding novel transcription coactivators p52 and p75 reveals an alternate regulatory mechanism of transcriptional activation.", "journal": "EMBO J.", "date": "1998", "authors": "Ge H, Si Y, Roeder RG", "evidence": [ { "database": "UniProtKB", "id": "O00458", "url": "https://www.uniprot.org/uniprot/O00458" } ], "reference": [ { "type": "PubMed", "id": "9822615", "url": "https://glygen.org/publication/PubMed/9822615" } ] } ], "pathway": [ { "id": "hsa:3475", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3475", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P19182-1", "protein_name": "Interferon-related developmental regulator 1", "gene_name": "Ifrd1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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