{ "uniprot_canonical_ac": "O15534-1", "uniprot_ac": "O15534", "uniprot_id": "PER1_HUMAN", "mass": { "chemical_mass": 136212.0, "monoisotopic_mass": 136212.0 }, "refseq": { "ac": "NP_002607", "name": "period circadian protein homolog 1", "summary": "This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607" }, "gene_names": [ { "name": "PER1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15534", "id": "O15534" }, { "name": "KIAA0482", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15534", "id": "O15534" }, { "name": "PER1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607", "id": "NP_002607" }, { "name": "PER", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15534", "id": "O15534" }, { "name": "RIGUI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15534", "id": "O15534" }, { "name": "hCG_31279", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15534", "id": "O15534" }, { "name": "hPER; PER; RIGUI", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607", "id": "NP_002607" } ], "protein_names": [ { "name": "Period circadian protein homolog 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15534" }, { "name": "Circadian clock protein PERIOD 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15534" }, { "name": "Circadian pacemaker protein Rigui", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15534" }, { "name": "circadian pacemaker protein RIGUI; Period, drosophila, homolog of; hPER1; period homolog 1; circadian clock protein PERIOD 1; period circadian clock 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607", "id": "NP_002607" }, { "name": "hPER1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O15534" }, { "name": "period circadian protein homolog 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607", "id": "NP_002607" } ], "function": [ { "annotation": "DNA polymerase beta connects tumorigenicity with the circadian clock in liver cancer through the epigenetic demethylation of Per1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_002607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607" }, { "database": "PubMed", "id": "38245510", "url": "https://glygen.org/publication/PubMed/38245510" } ] }, { "annotation": "Disrupting Circadian Rhythm via the PER1-HK2 Axis Reverses Trastuzumab Resistance in Gastric Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_002607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607" }, { "database": "PubMed", "id": "35255118", "url": "https://glygen.org/publication/PubMed/35255118" } ] }, { "annotation": "Insights into structure and activity relationship of clinically mutated PER1 and PER2 class A beta-lactamase enzymes.", "evidence": [ { "database": "RefSeq", "id": "NP_002607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607" }, { "database": "PubMed", "id": "35475497", "url": "https://glygen.org/publication/PubMed/35475497" } ] }, { "annotation": "LncRNA TPTEP1 inhibits the migration and invasion of gastric cancer cells through miR-548d-3p/KLF9/PER1 axis.", "evidence": [ { "database": "RefSeq", "id": "NP_002607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607" }, { "database": "PubMed", "id": "35985238", "url": "https://glygen.org/publication/PubMed/35985238" } ] }, { "annotation": "The biological clock gene PER1 affects the development of oral squamous cell carcinoma by altering the circadian rhythms of cell proliferation and apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_002607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607" }, { "database": "PubMed", "id": "35678317", "url": "https://glygen.org/publication/PubMed/35678317" } ] }, { "annotation": "This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_002607", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_002607" } ] }, { "annotation": "Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. Regulates circadian target genes expression at post-transcriptional levels, but may not be required for the repression at transcriptional level. Controls PER2 protein decay. Represses CRY2 preventing its repression on CLOCK/BMAL1 target genes such as FXYD5 and SCNN1A in kidney and PPARA in liver. Besides its involvement in the maintenance of the circadian clock, has an important function in the regulation of several processes. Participates in the repression of glucocorticoid receptor NR3C1/GR-induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) by BMAL1:CLOCK. Plays a role in the modulation of the neuroinflammatory state via the regulation of inflammatory mediators release, such as CCL2 and IL6. In spinal astrocytes, negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades as well as the subsequent activation of NFkappaB. Coordinately regulates the expression of multiple genes that are involved in the regulation of renal sodium reabsorption. Can act as gene expression activator in a gene and tissue specific manner, in kidney enhances WNK1 and SLC12A3 expression in collaboration with CLOCK. Modulates hair follicle cycling. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1.", "evidence": [ { "database": "UniProtKB", "id": "O15534", "url": "https://www.uniprot.org/uniprot/O15534#function" }, { "database": "PubMed", "id": "24005054", "url": "https://glygen.org/publication/PubMed/24005054" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1187195578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1187195578" }, { "id": "rs1187195578", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1187195578" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1084, "end_pos": 1084, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIT->NIT).", "chr_id": "17", "chr_pos": "8142657", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1084", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398155142", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398155142" }, { "id": "rs1398155142", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1398155142" }, { "id": "22980975", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22980975" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1089, "end_pos": 1089, "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SQS->NQS).", "chr_id": "17", "chr_pos": "8142452", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1089", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "O15534", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15534" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1093, "end_pos": 1093, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (HTS->NTS).", "chr_id": "17", "chr_pos": "8142441", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "H1093", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O15534", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O15534" }, { "id": "rs371070132", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371070132" }, { "id": "rs371070132", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371070132" }, { "id": "rs371070132", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371070132" }, { "id": "rs371070132", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs371070132#frequency_tab" }, { "id": "rs371070132", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs371070132" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1102, "end_pos": 1102, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DSS->NSS).", "chr_id": "17", "chr_pos": "8142414", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "D1102", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"url": "https://glygen.org/publication/PubMed/15917222" } ] }, { "start_pos": 714, "end_pos": 726, "sequence_org": "SVVSVTSQCSFSS", "sequence_mut": "AVVAVTAQCAFAA", "comment": "No effect on interaction with BTRC and FBXW11.", "evidence": [ { "database": "UniProtKB", "id": "O15534", "url": "https://www.uniprot.org/uniprot/O15534" }, { "database": "PubMed", "id": "15917222", "url": "https://glygen.org/publication/PubMed/15917222" } ] }, { "start_pos": 794, "end_pos": 798, "sequence_org": "FLSRF", "sequence_mut": "ALSRA", "comment": "Strongly decreases interaction with BTRC and FBXW11.", "evidence": [ { "database": "UniProtKB", "id": "O15534", "url": "https://www.uniprot.org/uniprot/O15534" }, { "database": "PubMed", "id": "15917222", "url": "https://glygen.org/publication/PubMed/15917222" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "91.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000179094", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179094" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "83.14", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000179094", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179094" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "91.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000179094", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179094" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "95.44", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000179094", "url": 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"MSGPLEGADGGGDPRPGESFCPGGVPSPGPPQHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSSGNGKDSALLETTESSKSTNSQSPSPPSSSIAYSLLSASSEQDNPSTSGCSSEQSARARTQKELMTALRELKLRLPPERRGKGRSGTLATLQYALACVKQVQANQEYYQQWSLEEGEPCSMDMSTYTLEELEHITSEYTLQNQDTFSVAVSFLTGRIVYISEQAAVLLRCKRDVFRGTRFSELLAPQDVGVFYGSTAPSRLPTWGTGASAGSGLRDFTQEKSVFCRIRGGPDRDPGPRYQPFRLTPYVTKIRVSDGAPAQPCCLLIAERIHSGYEAPRIPPDKRIFTTRHTPSCLFQDVDERAAPLLGYLPQDLLGAPVLLFLHPEDRPLMLAIHKKILQLAGQPFDHSPIRFCARNGEYVTMDTSWAGFVHPWSRKVAFVLGRHKVRTAPLNEDVFTPPAPSPAPSLDTDIQELSEQIHRLLLQPVHSPSPTGLCGVGAVTSPGPLHSPGSSSDSNGGDAEGPGPPAPVTFQQICKDVHLVKHQGQQLFIESRARPQSRPRLPATGTFKAKALPCQSPDPELEAGSAPVQAPLALVPEEAERKEASSCSYQQINCLDSILRYLESCNLPSTTKRKCASSSSYTTSSASDDDRQRTGPVSVGTKKDPPSAALSGEGATPRKEPVVGGTLSPLALANKAESVVSVTSQCSFSSTIVHVGDKKPPESDIIMMEDLPGLAPGPAPSPAPSPTVAPDPAPDAYRPVGLTKAVLSLHTQKEEQAFLSRFRDLGRLRGLDSSSTAPSALGERGCHHGPAPPSRRHHCRSKAKRSRHHQNPRAEAPCYVSHPSPVPPSTPWPTPPATTPFPAVVQPYPLPVFSPRGGPQPLPPAPTSVPPAAFPAPLVTPMVALVLPNYLFPTPSSYPYGALQTPAEGPPTPASHSPSPSLPALAPSPPHRPDSPLFNSRCSSPLQLNLLQLEELPRAEGAAVAGGPGSSAGPPPPSAEAAEPEARLAEVTESSNQDALSGSSDLLELLLQEDSRSGTGSAASGSLGSGLGSGSGSGSHEGGSTSASITRSSQSSHTSKYFGSIDSSEAEAGAARGGAEPGDQVIKYVLQDPIWLLMANADQRVMMTYQVPSRDMTSVLKQDRERLRAMQKQQPRFSEDQRRELGAVHSWVRKGQLPRALDVMACVDCGSSTQDPGHPDDPLFSELDGLGLEPMEEGGGEQGSSGGGSGEGEGCEEAQGGAKASSSQDLAMEEEEEGRSSSSPALPTAGNCTS", "length": 1290, "header": "sp|O15534-1|PER1_HUMAN Isoform 1 of Period circadian protein homolog 1 OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=2 CANONICAL=O15534-1" }, "isoforms": [ { "isoform_ac": "J3KRL7-1", "url": "", "sequence": { "sequence": "MSGPLEGADGGGDPRPGESFCPGGVPSPGPPQHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSSGNGKDSALLETTESSKSTNSQSPSPPSSSIAYSLLSASSEQDNPSTSGCSSEQSARARTQKELMTALRELKLRLPPERRGKGRSGTLATLQYALACVKQVQANQEYYQQWSLEEGEPCSMDMSTYTLEELEHITSEYTLQNQAAVLLRCKRDVFRGTRFSELLAPQDVGVFYGSTAPSRLPTWGTGASAGSGLRDFTQEKSVFCRIRGGPDRDPGPRYQPFRLTPYVTKIRVSDGAPAQPCCLLIAERIHSGYEAPRIPPDKRIFTTRHTPSCLFQDVDERAAPLLGYLPQDLLGAPVLLFLHPEDRPLMLAIHKKILQLAGQPFDHSPIRFCARNGEYVTMDTSWAGFVHPWSRKVAFVLGRHKVRTAPLNEDVFTPPAPSPAPSLDTDIQELSEQIHRLLLQPVHSPSPTGLCGVGAVTSPGPLHSPGSSSDSNGGDAEGPGPPAPVTFQQICKDVHLVKHQGQQLFIESRARPQSRPRLPATGTFKAKALPCQSPDPELEAGSAPVQAPLALVPEEAERKEASSCSYQQINCLDSILRYLESCNLPSTTKRKCASSSSYTTSSASDDDRQRTGPVSVGTKKDPPSAALSGEGATPRKEPVVGGTLSPLALANKAESVVSVTSQCSFSSTIVHVGDKKPPESDIIMMEDLPGLAPGPAPSPAPSPTVAPDPAPDAYRPVGLTKAVLSLHTQKEEQAFLSRFRDLGRLRGLDSSSTAPSALGCHHGPAPPSRRHHCRSKAKRSRHHQNPRAEAPCYVSHPSPVPPSTPWPTPPATTPFPAVVQPYPLPVFSPRGGPQPLPPAPTSVPPAAFPAPLVTPMVALVLPNYLFPTPSSYPYGALQTPAEGPPTPASHSPSPSLPALAPSPPHRPDSPLFNSRCSSPLQLNLLQLEELPRAEGAAVAGGPGSSAGPPPPSAEAAEPEARLAEVTESSNQDALSGSSDLLELLLQEDSRSGTGSAASGSLGSGLGSGSGSGSHEGGSTSASITRSSQSSHTSKYFGSIDSSEAEAGAARGGAEPGDQVIKYVLQDPIWLLMANADQRVMMTYQVPSRDMTSVLKQDRERLRAMQKQQPRFSEDQRRELGAVHSWVRKGQLPRALDVMACVDCGSSTQDPGHPDDPLFSELDGLGLEPMEEGGGEQGSSGGGSGEGEGCEEAQGGAKASSSQDLAMEEEEEGRSSSSPALPTAGNCTS", "length": 1267, "header": "tr|J3KRL7-1|J3KRL7_HUMAN Computationally mapped isoform of Period circadian regulator 1 OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=1 CANONICAL=O15534-1" }, "locus": { "chromosome": "17", "start_pos": 8150706, "end_pos": 8141071, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581082.5", "url": "https://www.ensembl.org/id/ENST00000581082.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462064.1", "url": "https://www.ensembl.org/id/ENSP00000462064.1" } ] } }, { "isoform_ac": "J3KSL6-1", "url": "", "sequence": { "sequence": "MSGPLEGADGGGDPRPGESFCPGGVPSPGPPQHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSSGNGKDSALLETTESSKSSEQSARARTQKELMTALRELKLRLP", "length": 117, "header": "tr|J3KSL6-1|J3KSL6_HUMAN Computationally mapped isoform of Period circadian regulator 1 OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=1 CANONICAL=O15534-1" }, "locus": { "chromosome": "17", "start_pos": 8150706, "end_pos": 8150050, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000577253.5", "url": "https://www.ensembl.org/id/ENST00000577253.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462546.1", "url": "https://www.ensembl.org/id/ENSP00000462546.1" } ] } }, { "isoform_ac": "J3KTM2-1", "url": "", "sequence": { "sequence": "MSGPLEGADGGGDPRPGESFCPGGVPSPGPPQHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSSGNGKDSALLETTESSKSTNSQSPSPPSSSIAYSLLSASSEQDNPSTSGCSSEQSARARTQKELMTALRELKLRLPPERRGKGRSGTLATLQYALACVKQVQANQEYYQQWSLEEGEPCSMDMSTYTLEELEHITSEYTLQNQDTFSVAVSFLTGRIVYISEQAAVLLRCKRDVFRGTRFSELLAPQDVGVFYGSTAPSRLPTWGTGASAGSGLRDFTQEKSVFCRIRGGPDRDPGPRYQPFRLTPYVTKIRVSDGAPAQPCCLLIAERIHSGYEAPRIPPDKRIFTTRHTPSCLFQDVDERAAPLLGYLPQDLLGAPVLLFLHPEDRPLMLAIHKKILQLAGQPFDHSPIRFCARNGEYVTMDTSWAGFVHPWSRKVAFVLGRHKVRTAPLNEDVFTPPAPSPAPSLDTDIQELSEQIHRLLLQPVHSPSPTGLCGVGAVTSPGPLHSPGSSSDSNGGDAEGPGPPAPVTFQQICKDVHLVKHQGQQLFIESRARPQSRPRLPATGTFKAKALPCQSPDPELEAGSAPVQAPLALVPEEAERKEASSCSYQQINCLDSILRYLESCNLPSTTKRKCASSSSYTTSSASDDDRQRTGPVSVGTKKDPPSAALSGEGATPRKEPVVGGTLSPLALANKAESVVSVTSQCSFSSTIVHVGDKKPPESDIIMMEDLPGLAPGPAPSPAPSPTVAPDPAPDAYRPVGLTKAVLSLHTQKEEQAFLSRFRDLGRLRGLDSSSTAPSALGERGGGH", "length": 824, "header": "tr|J3KTM2-1|J3KTM2_HUMAN Computationally mapped isoform of Period circadian regulator 1 OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=1 CANONICAL=O15534-1" }, "locus": { "chromosome": "17", "start_pos": 8150706, "end_pos": 8142825, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000582719.5", "url": "https://www.ensembl.org/id/ENST00000582719.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463054.1", "url": "https://www.ensembl.org/id/ENSP00000463054.1" } ] } }, { "isoform_ac": "J3QL46-1", "url": "", "sequence": { "sequence": "VTSQCSFSSTIVHVGDKKPPESDIIMMEDLPGLAPGPAPSPAPSPTVAPDPAPDAYRPVGLTKAVLSLHTQKEEQAFLSRFRDLGRLRGLDSSSTAPSALGERGRIRPRWAGGMPRLAVPTGVWRTRAICPCVHGLTLLPPSASMPPSSAHPQLDPSCNLSLALFLSQ", "length": 168, "header": "tr|J3QL46-1|J3QL46_HUMAN Computationally mapped isoform of Period circadian regulator 1 OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=1 CANONICAL=O15534-1" }, "locus": { "chromosome": "17", "start_pos": 8146024, "end_pos": 8144075, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583559.1", "url": "https://www.ensembl.org/id/ENST00000583559.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463369.1", "url": "https://www.ensembl.org/id/ENSP00000463369.1" } ] } }, { "isoform_ac": "J3QL55-1", "url": "", "sequence": { "sequence": "MQPASPPARWSFHSAAGWSGGGQACGGHSCDQHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSSGNGKDSALLETTESSKSTNSQSPSPPSSSIAYSLLSASSEQDNPSTSGCSSEQSARARTQKELMTALRELKLRLPPERRGKGRSGTLATLQYALACVKQV", "length": 175, "header": "tr|J3QL55-1|PER1_HUMAN Computationally mapped isoform of Period circadian protein homolog 1 OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=1 CANONICAL=O15534-1" }, "locus": { "chromosome": "17", "start_pos": 8152432, "end_pos": 8149975, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581703.1", "url": "https://www.ensembl.org/id/ENST00000581703.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463385.1", "url": "https://www.ensembl.org/id/ENSP00000463385.1" } ] } }, { "isoform_ac": "J3QLQ5-1", "url": "", "sequence": { "sequence": "MSGPLEGADGGGDPRPGESFCPGGVPSPGPPQHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSSGNGKDSALLETTESSKSTNSQSPSPPSSSIAYSLLSA", "length": 112, "header": "tr|J3QLQ5-1|J3QLQ5_HUMAN Computationally mapped isoform of Period circadian regulator 1 OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=1 CANONICAL=O15534-1" }, "locus": { "chromosome": "17", "start_pos": 8150706, "end_pos": 8150257, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000584202.1", "url": "https://www.ensembl.org/id/ENST00000584202.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463661.1", "url": "https://www.ensembl.org/id/ENSP00000463661.1" } ] } }, { "isoform_ac": "J3QSH9-1", "url": "", "sequence": { "sequence": "MSGPLEGADGGGDPRPGESFCPGGVPSPGPPQHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSSGNGKDSALLETTESSKSTNSQSPSPPSSSIAYSLLSASSEQDNPSTSGCSSEQSARARTQKELMTALRELKLRLPPERRGKGRSGTLATLQYALACVKQVQANQEYYQQWSLEEGEPCSMDMSTYTLEELEHITSEYTLQNQDTFSVAVSFLTGRIVYISEQAAVLLRCKRDVFRGTRFSELLAPQDVGVFYGSTAPSRLPTWGTGASAGSGLRDFTQEKSVFCRIRGGPDRDPGPRYQPFRLTPYVTKIRVSDGAPAQPCCLLIAERIHSGYEAPRIPPDKRIFTTRHTPSCLFQDVDERAAPLLGYLPQDLLGAPVLLFLHPEDRPLMLAIHKKILQLAGQPFDHSPIRFCARNGEYVTMDTSWAGFVHPWSRKVAFVLGRHKVRTAPLNEDVFTPPAPSPAPSLDTDIQELSEQIHRLLLQPVHSPSPTGLCGVGAVTSPGPLHSPGSSSDSNGGDAEGPGPPAPLQARSRPRPFPANPQTQSWRRVLLPSRPH", "length": 572, "header": "tr|J3QSH9-1|J3QSH9_HUMAN Computationally mapped isoform of Period homolog 1 (Drosophila), isoform CRA_b OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=1 CANONICAL=O15534-1" }, "locus": { "chromosome": "17", "start_pos": 8150706, "end_pos": 8146679, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581395.5", "url": "https://www.ensembl.org/id/ENST00000581395.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464696.1", "url": "https://www.ensembl.org/id/ENSP00000464696.1" } ] } }, { "isoform_ac": "O15534-1", "url": "", "sequence": { "sequence": "MSGPLEGADGGGDPRPGESFCPGGVPSPGPPQHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSSGNGKDSALLETTESSKSTNSQSPSPPSSSIAYSLLSASSEQDNPSTSGCSSEQSARARTQKELMTALRELKLRLPPERRGKGRSGTLATLQYALACVKQVQANQEYYQQWSLEEGEPCSMDMSTYTLEELEHITSEYTLQNQDTFSVAVSFLTGRIVYISEQAAVLLRCKRDVFRGTRFSELLAPQDVGVFYGSTAPSRLPTWGTGASAGSGLRDFTQEKSVFCRIRGGPDRDPGPRYQPFRLTPYVTKIRVSDGAPAQPCCLLIAERIHSGYEAPRIPPDKRIFTTRHTPSCLFQDVDERAAPLLGYLPQDLLGAPVLLFLHPEDRPLMLAIHKKILQLAGQPFDHSPIRFCARNGEYVTMDTSWAGFVHPWSRKVAFVLGRHKVRTAPLNEDVFTPPAPSPAPSLDTDIQELSEQIHRLLLQPVHSPSPTGLCGVGAVTSPGPLHSPGSSSDSNGGDAEGPGPPAPVTFQQICKDVHLVKHQGQQLFIESRARPQSRPRLPATGTFKAKALPCQSPDPELEAGSAPVQAPLALVPEEAERKEASSCSYQQINCLDSILRYLESCNLPSTTKRKCASSSSYTTSSASDDDRQRTGPVSVGTKKDPPSAALSGEGATPRKEPVVGGTLSPLALANKAESVVSVTSQCSFSSTIVHVGDKKPPESDIIMMEDLPGLAPGPAPSPAPSPTVAPDPAPDAYRPVGLTKAVLSLHTQKEEQAFLSRFRDLGRLRGLDSSSTAPSALGERGCHHGPAPPSRRHHCRSKAKRSRHHQNPRAEAPCYVSHPSPVPPSTPWPTPPATTPFPAVVQPYPLPVFSPRGGPQPLPPAPTSVPPAAFPAPLVTPMVALVLPNYLFPTPSSYPYGALQTPAEGPPTPASHSPSPSLPALAPSPPHRPDSPLFNSRCSSPLQLNLLQLEELPRAEGAAVAGGPGSSAGPPPPSAEAAEPEARLAEVTESSNQDALSGSSDLLELLLQEDSRSGTGSAASGSLGSGLGSGSGSGSHEGGSTSASITRSSQSSHTSKYFGSIDSSEAEAGAARGGAEPGDQVIKYVLQDPIWLLMANADQRVMMTYQVPSRDMTSVLKQDRERLRAMQKQQPRFSEDQRRELGAVHSWVRKGQLPRALDVMACVDCGSSTQDPGHPDDPLFSELDGLGLEPMEEGGGEQGSSGGGSGEGEGCEEAQGGAKASSSQDLAMEEEEEGRSSSSPALPTAGNCTS", "length": 1290, "header": "sp|O15534-1|PER1_HUMAN Isoform 1 of Period circadian protein homolog 1 OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=2 CANONICAL=O15534-1" }, "locus": { "chromosome": "17", "start_pos": 8150706, "end_pos": 8141071, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000317276.9", "url": "https://www.ensembl.org/id/ENST00000317276.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000314420.4", "url": "https://www.ensembl.org/id/ENSP00000314420.4" } ] } }, { "isoform_ac": "O15534-4", "url": "", "sequence": { "sequence": "MLEVLEEIWSVRARRAHRPCPGPSLADDTDANSNGSSGNESNGHESRGASQRSSHSSSSGNGKDSALLETTESSKSTNSQSPSPPSSSIAYSLLSASSEQDNPSTSGCSSEQSARARTQKELMTALRELKLRLPPERRGKGRSGTLATLQYALACVKQVQANQEYYQQWSLEEGEPCSMDMSTYTLEELEHITSEYTLQNQDTFSVAVSFLTGRIVYISEQAAVLLRCKRDVFRGTRFSELLAPQDVGVFYGSTAPSRLPTWGTGASAGSGLRDFTQEKSVFCRIRGGPDRDPGPRYQPFRLTPYVTKIRVSDGAPAQPCCLLIAERIHSGYEAPRIPPDKRIFTTRHTPSCLFQDVDERAAPLLGYLPQDLLGAPVLLFLHPEDRPLMLAIHKKILQLAGQPFDHSPIRFCARNGEYVTMDTSWAGFVHPWSRKVAFVLGRHKVRTAPLNEDVFTPPAPSPAPSLDTDIQELSEQIHRLLLQPVHSPSPTGLCGVGAVTSPGPLHSPGSSSDSNGGDAEGPGPPAPVTFQQICKDVHLVKHQGQQLFIESRARPQSRPRLPATGTFKAKALPCQSPDPELEAGSAPVQAPLALVPEEAERKEASSCSYQQINCLDSILRYLESCNLPSTTKRKCASSSSYTTSSASDDDRQRTGPVSVGTKKDPPSAALSGEGATPRKEPVVGGTLSPLALANKAESVVSVTSQCSFSSTIVHVGDKKPPESDIIMMEDLPGLAPGPAPSPAPSPTVAPDPAPDAYRPVGLTKAVLSLHTQKEEQAFLSRFRDLGRLRGLDSSSTAPSALGERGSHLGPPGACPLPSLGLDCWGVGLKGGVSAPGTQAGVASTTRPCLGTGPSLASPH", "length": 859, "header": "sp|O15534-4|PER1_HUMAN Isoform 4 of Period circadian protein homolog 1 OS=Homo sapiens OX=9606 GN=PER1 PE=1 SV=2 CANONICAL=O15534-1" }, "locus": { "chromosome": "17", "start_pos": 8156354, "end_pos": 8144587, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000354903.9", "url": "https://www.ensembl.org/id/ENST00000354903.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000346979.5", "url": "https://www.ensembl.org/id/ENSP00000346979.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 319, "start_aa": "Thr", "end_pos": 319, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr319", "evidence": [ { "id": "O15534", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15534" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 323, "start_aa": "Thr", "end_pos": 323, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr323", "evidence": [ { "id": "O15534", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O15534" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 1100, "end_pos": 1100, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15534" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser1100" }, { "start_pos": 1103, "end_pos": 1103, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15534" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser1103" }, { "start_pos": 1104, "end_pos": 1104, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15534" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" } ], "site_lbl": "Ser1104" }, { "start_pos": 1186, "end_pos": 1186, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O15534", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O15534" }, { "database": "PubMed", "id": "18491316", "url": "https://glygen.org/publication/PubMed/18491316" } ], "site_lbl": "Ser1186" }, { "start_pos": 121, "end_pos": 121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine; by CSNK1E", "evidence": [ { "database": "UniProtKB", "id": "O15534", "url": 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J.", "date": "2004", "authors": "Miyazaki K, Nagase T, Mesaki M, Narukawa J, Ohara O, Ishida N", "evidence": [ { "database": "UniProtKB", "id": "O15534", "url": "https://www.uniprot.org/uniprot/O15534" }, { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "14750904", "url": "https://glygen.org/publication/PubMed/14750904" } ] }, { "title": "System-level identification of transcriptional circuits underlying mammalian circadian clocks.", "journal": "Nature genetics", "date": "2005", "authors": "Ueda HR, Hayashi S, Chen W, Sano M, Machida M, Shigeyoshi Y, Iino M, Hashimoto S", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "15665827", "url": "https://glygen.org/publication/PubMed/15665827" } ] }, { "title": "The orphan nuclear receptor Rev-erbalpha recruits the 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1-dependent degradation of the mammalian period-1 (Per1) protein.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Shirogane T, Jin J, Ang XL, Harper JW", "evidence": [ { "database": "UniProtKB", "id": "O15534", "url": "https://www.uniprot.org/uniprot/O15534" }, { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "15917222", "url": "https://glygen.org/publication/PubMed/15917222" } ] }, { "title": "Feedback repression is required for mammalian circadian clock function.", "journal": "Nature genetics", "date": "2006", "authors": "Sato TK, Yamada RG, Ukai H, Baggs JE, Miraglia LJ, Kobayashi TJ, Welsh DK, Kay SA, Ueda HR, Hogenesch JB", "evidence": [ { "database": "Reactome", "id": "R-HSA-400253", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-400253" } ], "reference": [ { "type": "PubMed", "id": "16474406", "url": 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"url": "https://www.uniprot.org/uniprot/O15534" } ], "pmid": "" }, { "name": "regulation of cytokine production involved in inflammatory response", "id": "GO:1900015", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900015", "evidence": [ { "database": "UniProtKB", "id": "O15534", "url": "https://www.uniprot.org/uniprot/O15534" } ], "pmid": "" }, { "name": "regulation of hair cycle", "id": "GO:0042634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042634", "evidence": [ { "database": "UniProtKB", "id": "O15534", "url": "https://www.uniprot.org/uniprot/O15534" } ], "pmid": "" }, { "name": "negative regulation of glucocorticoid receptor signaling pathway", "id": "GO:2000323", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000323", "evidence": [ { "database": "UniProtKB", "id": "O15534", "url": "https://www.uniprot.org/uniprot/O15534" } ], "pmid": "" }, { "name": "circadian regulation of translation", "id": "GO:0097167", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097167", "evidence": 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