{ "uniprot_canonical_ac": "O00522-1", "uniprot_ac": "O00522", "uniprot_id": "KRIT1_HUMAN", "mass": { "chemical_mass": 84348.0, "monoisotopic_mass": 84348.0 }, "refseq": { "ac": "NP_001013424", "name": "krev interaction trapped protein 1 isoform 2", "summary": "This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" }, "gene_names": [ { "name": "KRIT1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00522", "id": "O00522" }, { "name": "CAM; CCM1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424", "id": "NP_001013424" }, { "name": "CCM1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00522", "id": "O00522" }, { "name": "KRIT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424", "id": "NP_001013424" } ], "protein_names": [ { "name": "Krev interaction trapped protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00522" }, { "name": "Cerebral cavernous malformations 1 protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00522" }, { "name": "Krev interaction trapped 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00522" }, { "name": "ankyrin repeat-containing protein Krit1; krev interaction trapped protein 1; krev interaction trapped 1; cerebral cavernous malformations 1 protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424", "id": "NP_001013424" }, { "name": "krev interaction trapped protein 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424", "id": "NP_001013424" } ], "function": [ { "annotation": "A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" }, { "database": "PubMed", "id": "36892712", "url": "https://glygen.org/publication/PubMed/36892712" } ] }, { "annotation": "Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" }, { "database": "PubMed", "id": "34088891", "url": "https://glygen.org/publication/PubMed/34088891" } ] }, { "annotation": "Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels. May play a role in the regulation of macroautophagy through the down-regulation of the mTOR pathway (PubMed:26417067).", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522#function" }, { "database": "PubMed", "id": "20616044", "url": "https://glygen.org/publication/PubMed/20616044" }, { "database": "PubMed", "id": "23317506", "url": "https://glygen.org/publication/PubMed/23317506" }, { "database": "PubMed", "id": "20332120", "url": "https://glygen.org/publication/PubMed/20332120" }, { "database": "PubMed", "id": "17916086", "url": "https://glygen.org/publication/PubMed/17916086" }, { "database": "PubMed", "id": "11741838", "url": "https://glygen.org/publication/PubMed/11741838" }, { "database": "UniProtKB", "id": "Q6S5J6", "url": "https://www.uniprot.org/uniprot/Q6S5J6#function" }, { "database": "PubMed", "id": "20668652", "url": "https://glygen.org/publication/PubMed/20668652" }, { "database": "PubMed", "id": "21633110", "url": "https://glygen.org/publication/PubMed/21633110" }, { "database": "PubMed", "id": "26417067", "url": "https://glygen.org/publication/PubMed/26417067" } ] }, { "annotation": "Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" }, { "database": "PubMed", "id": "33604894", "url": "https://glygen.org/publication/PubMed/33604894" } ] }, { "annotation": "KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" }, { "database": "PubMed", "id": "33651268", "url": "https://glygen.org/publication/PubMed/33651268" } ] }, { "annotation": "Protein kinase Calpha regulates the nucleocytoplasmic shuttling of KRIT1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" }, { "database": "PubMed", "id": "33443102", "url": "https://glygen.org/publication/PubMed/33443102" } ] }, { "annotation": "This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" } ] } ], "disease": [ { "disease_id": "DOID:0080491", "recommended_name": { "id": "DOID:0080491", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080491", "name": "cerebral cavernous malformation 1", "description": "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21." }, "synonyms": [ { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "cerebral cavernous malformation 1", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "cerebral cavernous malformation 1", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "cerebral cavernous malformations-1", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "familial cerebral cavernous malformation 1", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "CCM", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "cavernous angioma, familial", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "cavernous angiomatous malformations", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "cavernous malformations of CNS and retina", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "cerebral capillary malformations", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "cerebral cavernous malformations", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "cerebral cavernous malformations 1", "description": "" }, { "id": "MONDO:0020724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020724", "name": "hyperkeratotic cutaneous capillary-Venous malformations associated with cerebral capillary malformations", "description": "" }, { "id": "MIM:116860", "resource": "MIM", "url": "https://www.omim.org/entry/116860", "name": "Cerebral cavernous malformations 1", "description": "Cerebral cavernous malformations 1" } ], "evidence": [ { "id": "116860", "database": "MIM", "url": "https://www.omim.org/entry/116860" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 176, "end_pos": 176, "sequence_org": "A", "sequence_mut": "D", "comment": "Strongly reduces ITGB1BP1 binding; when associated with D-182.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "23317506", "url": "https://glygen.org/publication/PubMed/23317506" } ] }, { "start_pos": 179, "end_pos": 179, "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly reduces ITGB1BP1 binding; when associated with A-179.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "23317506", "url": "https://glygen.org/publication/PubMed/23317506" } ] }, { "start_pos": 182, "end_pos": 182, "sequence_org": "P", "sequence_mut": "D", "comment": "Strongly reduces ITGB1BP1 binding; when associated with D-176.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "23317506", "url": "https://glygen.org/publication/PubMed/23317506" } ] }, { "start_pos": 185, "end_pos": 185, "sequence_org": "R", "sequence_mut": "A", "comment": "Strongly reduces ITGB1BP1 binding; when associated with A-179.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "23317506", "url": "https://glygen.org/publication/PubMed/23317506" } ] }, { "start_pos": 192, "end_pos": 192, "sequence_org": "N", "sequence_mut": "A", "comment": "Reduces ITGB1BP1 binding; when associated with A-195.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "23317506", "url": "https://glygen.org/publication/PubMed/23317506" }, { "database": "PubMed", "id": "11741838", "url": "https://glygen.org/publication/PubMed/11741838" }, { "database": "PubMed", "id": "11854171", "url": "https://glygen.org/publication/PubMed/11854171" } ] }, { "start_pos": 192, "end_pos": 195, "sequence_org": "NPAY", "sequence_mut": "APAA", "comment": "Reduces interaction with ITGB1BP1.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "17916086", "url": "https://glygen.org/publication/PubMed/17916086" } ] }, { "start_pos": 195, "end_pos": 195, "sequence_org": "Y", "sequence_mut": "A", "comment": "Reduces ITGB1BP1 binding; when associated with A-192.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "23317506", "url": "https://glygen.org/publication/PubMed/23317506" }, { "database": "PubMed", "id": "11741838", "url": "https://glygen.org/publication/PubMed/11741838" }, { "database": "PubMed", "id": "11854171", "url": "https://glygen.org/publication/PubMed/11854171" } ] }, { "start_pos": 430, "end_pos": 430, "sequence_org": "S", "sequence_mut": "E", "comment": "Impairs interaction with RAP1B.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "22577140", "url": "https://glygen.org/publication/PubMed/22577140" } ] }, { "start_pos": 432, "end_pos": 432, "sequence_org": "R", "sequence_mut": "E", "comment": "Impairs interaction with RAP1B.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "22577140", "url": "https://glygen.org/publication/PubMed/22577140" } ] }, { "start_pos": 452, "end_pos": 452, "sequence_org": "R", "sequence_mut": "E", "comment": "40-fold-reduced affinity for Rap1A.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "21633110", "url": "https://glygen.org/publication/PubMed/21633110" }, { "database": "PubMed", "id": "22577140", "url": "https://glygen.org/publication/PubMed/22577140" } ] }, { "start_pos": 452, "end_pos": 452, "sequence_org": "R", "sequence_mut": "E", "comment": "Impairs interaction with RAP1B.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "21633110", "url": "https://glygen.org/publication/PubMed/21633110" }, { "database": "PubMed", "id": "22577140", "url": "https://glygen.org/publication/PubMed/22577140" } ] }, { "start_pos": 47, "end_pos": 50, "sequence_org": "KKRK", "sequence_mut": "AAAA", "comment": "Reduces interaction with microtubules, but not with ITGB1BP1.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "17916086", "url": "https://glygen.org/publication/PubMed/17916086" } ] }, { "start_pos": 717, "end_pos": 717, "sequence_org": "L", "sequence_mut": "A", "comment": "Strongly reduced affinity for HEG1; when associated with A-721.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "23007647", "url": "https://glygen.org/publication/PubMed/23007647" } ] }, { "start_pos": 721, "end_pos": 721, "sequence_org": "L", "sequence_mut": "A", "comment": "Strongly reduced affinity for HEG1; when associated with A-717.", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" }, { "database": "PubMed", "id": "23007647", "url": "https://glygen.org/publication/PubMed/23007647" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "89.02", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000001631", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000001631" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "90.37", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000001631", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000001631" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "92.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000001631", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000001631" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "91.55", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000001631", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000001631" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.24", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000001631", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000001631" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000001631", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000001631" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "91.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000001631", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000001631" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.94", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000001631", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000001631" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "91.63", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000001631", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000001631" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00522", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00522" } ], "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", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00522", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00522" } ], "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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O00522", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00522" } ], "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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "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": 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"UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPTERNS", "length": 736, "header": "sp|O00522-1|KRIT1_HUMAN Isoform 1 of Krev interaction trapped protein 1 OS=Homo sapiens OX=9606 GN=KRIT1 PE=1 SV=2 CANONICAL=O00522-1" }, "isoforms": [ { 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"MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPLSFLVV", "length": 424, "header": "tr|A0A8I5KQD8-1|A0A8I5KQD8_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92222977, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686619.1", "url": "https://www.ensembl.org/id/ENST00000686619.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509512.1", "url": "https://www.ensembl.org/id/ENSP00000509512.1" } ] } }, { "isoform_ac": "A0A8I5KQH3-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRELQTTQKSKYLNRKNGREA", "length": 262, "header": "tr|A0A8I5KQH3-1|A0A8I5KQH3_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92234830, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000691239.1", "url": "https://www.ensembl.org/id/ENST00000691239.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508475.1", "url": "https://www.ensembl.org/id/ENSP00000508475.1" } ] } }, { "isoform_ac": "A0A8I5KRK7-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRVFFKVHPSPFKM", "length": 99, "header": "tr|A0A8I5KRK7-1|A0A8I5KRK7_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92240824, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688781.1", "url": "https://www.ensembl.org/id/ENST00000688781.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510196.1", "url": "https://www.ensembl.org/id/ENSP00000510196.1" } ] } }, { "isoform_ac": "A0A8I5KUF9-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKPF", "length": 677, "header": "tr|A0A8I5KUF9-1|A0A8I5KUF9_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92210999, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000689539.1", "url": "https://www.ensembl.org/id/ENST00000689539.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510360.1", "url": "https://www.ensembl.org/id/ENSP00000510360.1" } ] } }, { "isoform_ac": "A0A8I5KVW5-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGR", "length": 201, "header": "tr|A0A8I5KVW5-1|KRIT1_HUMAN Computationally mapped isoform of Krev interaction trapped protein 1 OS=Homo sapiens OX=9606 GN=KRIT1 PE=1 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92234919, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000688314.1", "url": "https://www.ensembl.org/id/ENST00000688314.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510229.1", "url": "https://www.ensembl.org/id/ENSP00000510229.1" } ] } }, { "isoform_ac": "A0A8I5KVY1-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKGG", "length": 120, "header": "tr|A0A8I5KVY1-1|A0A8I5KVY1_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92235642, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687876.1", "url": "https://www.ensembl.org/id/ENST00000687876.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509086.1", "url": "https://www.ensembl.org/id/ENSP00000509086.1" } ] } }, { "isoform_ac": "A0A8I5KVY4-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGG", "length": 89, "header": "tr|A0A8I5KVY4-1|A0A8I5KVY4_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92235642, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000692690.1", "url": "https://www.ensembl.org/id/ENST00000692690.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509642.1", "url": "https://www.ensembl.org/id/ENSP00000509642.1" } ] } }, { "isoform_ac": "A0A8I5KW41-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKPF", "length": 629, "header": "tr|A0A8I5KW41-1|A0A8I5KW41_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92210999, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000685431.1", "url": "https://www.ensembl.org/id/ENST00000685431.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509995.1", "url": "https://www.ensembl.org/id/ENSP00000509995.1" } ] } }, { "isoform_ac": "A0A8I5KWG2-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDK", "length": 162, "header": "tr|A0A8I5KWG2-1|KRIT1_HUMAN Computationally mapped isoform of Krev interaction trapped protein 1 OS=Homo sapiens OX=9606 GN=KRIT1 PE=1 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92236412, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690292.1", "url": "https://www.ensembl.org/id/ENST00000690292.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510303.1", "url": "https://www.ensembl.org/id/ENSP00000510303.1" } ] } }, { "isoform_ac": "A0A8I5KX77-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDNFIPTFSS", "length": 169, "header": "tr|A0A8I5KX77-1|A0A8I5KX77_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92235584, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000686785.1", "url": "https://www.ensembl.org/id/ENST00000686785.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000508596.1", "url": "https://www.ensembl.org/id/ENSP00000508596.1" } ] } }, { "isoform_ac": "C9J718-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPTERNS", "length": 582, "header": "tr|C9J718-1|C9J718_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=1 SV=2 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92200739, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454017.6", "url": "https://www.ensembl.org/id/ENST00000454017.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000405835.2", "url": "https://www.ensembl.org/id/ENSP00000405835.2" } ] } }, { "isoform_ac": "C9JD43-1", "url": "", "sequence": { "sequence": "MGNPENIEDAY", "length": 11, "header": "tr|C9JD43-1|C9JD43_HUMAN Computationally mapped isoform of Krev interaction trapped protein 1 OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=8 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92200739, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000425073", "url": "https://www.ensembl.org/id/ENST00000425073" }, { "database": "Ensembl Peptide", "id": "ENSP00000404790", "url": "https://www.ensembl.org/id/ENSP00000404790" } ] } }, { "isoform_ac": "C9JEW7-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFI", "length": 112, "header": "tr|C9JEW7-1|C9JEW7_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92237686, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440209.5", "url": "https://www.ensembl.org/id/ENST00000440209.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000396042.1", "url": "https://www.ensembl.org/id/ENSP00000396042.1" } ] } }, { "isoform_ac": "C9JF32-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLRMMFFRPSTQTIS", "length": 483, "header": "tr|C9JF32-1|KRIT1_HUMAN Computationally mapped isoform of Krev interaction trapped protein 1 OS=Homo sapiens OX=9606 GN=KRIT1 PE=1 SV=2 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92222032, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433016.6", "url": "https://www.ensembl.org/id/ENST00000433016.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000410104.2", "url": "https://www.ensembl.org/id/ENSP00000410104.2" } ] } }, { "isoform_ac": "C9JIY2-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQLLMLS", "length": 526, "header": "tr|C9JIY2-1|C9JIY2_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=2 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92214690, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000445516.2", "url": "https://www.ensembl.org/id/ENST00000445516.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000404084.2", "url": "https://www.ensembl.org/id/ENSP00000404084.2" } ] } }, { "isoform_ac": "C9JJM9-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKK", "length": 51, "header": "tr|C9JJM9-1|C9JJM9_HUMAN Computationally mapped isoform of KRIT1 ankyrin repeat containing OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=2 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92241102, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000452773.6", "url": "https://www.ensembl.org/id/ENST00000452773.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000395346.2", "url": "https://www.ensembl.org/id/ENSP00000395346.2" } ] } }, { "isoform_ac": "C9JXI9-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYE", "length": 34, "header": "tr|C9JXI9-1|C9JXI9_HUMAN Computationally mapped isoform of Krev interaction trapped protein 1 OS=Homo sapiens OX=9606 GN=KRIT1 PE=4 SV=1 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92200739, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000444960", "url": "https://www.ensembl.org/id/ENST00000444960" }, { "database": "Ensembl Peptide", "id": "ENSP00000388076", "url": "https://www.ensembl.org/id/ENSP00000388076" } ] } }, { "isoform_ac": "O00522-1", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPTERNS", "length": 736, "header": "sp|O00522-1|KRIT1_HUMAN Isoform 1 of Krev interaction trapped protein 1 OS=Homo sapiens OX=9606 GN=KRIT1 PE=1 SV=2 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92200739, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394507.5", "url": "https://www.ensembl.org/id/ENST00000394507.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000378015.1", "url": "https://www.ensembl.org/id/ENSP00000378015.1" } ] } }, { "isoform_ac": "O00522-2", "url": "", "sequence": { "sequence": "MGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPTERNS", "length": 529, "header": "sp|O00522-2|KRIT1_HUMAN Isoform 2 of Krev interaction trapped protein 1 OS=Homo sapiens OX=9606 GN=KRIT1 PE=1 SV=2 CANONICAL=O00522-1" }, "locus": {} }, { "isoform_ac": "O00522-3", "url": "", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPTERNS", "length": 688, "header": "sp|O00522-3|KRIT1_HUMAN Isoform 3 of Krev interaction trapped protein 1 OS=Homo sapiens OX=9606 GN=KRIT1 PE=1 SV=2 CANONICAL=O00522-1" }, "locus": { "chromosome": "7", "start_pos": 92242135, "end_pos": 92200739, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000690908.1", "url": "https://www.ensembl.org/id/ENST00000690908.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510110.1", "url": "https://www.ensembl.org/id/ENSP00000510110.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 22, "end_pos": 22, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00522", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00522" }, { "database": "PubMed", "id": "33443102", "url": "https://glygen.org/publication/PubMed/33443102" } ], "site_lbl": "Ser22" }, { "start_pos": 605, "end_pos": 605, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00522", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00522" }, { "database": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ], "site_lbl": "Tyr605" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Cloning of the murine Krit1 cDNA reveals novel mammalian 5' coding exons.", "journal": "Genomics", "date": "2000", "authors": "Zhang J, Clatterbuck RE, Rigamonti D, Dietz HC", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "11161791", "url": "https://glygen.org/publication/PubMed/11161791" } ] }, { "title": "Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene.", "journal": "Genomics", "date": "2001", "authors": "Sahoo T, Goenaga-Diaz E, Serebriiskii IG, Thomas JW, Kotova E, Cuellar JG, Peloquin JM, Golemis E, Beitinjaneh F, Green ED, Johnson EW, Marchuk DA", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "11161805", "url": "https://glygen.org/publication/PubMed/11161805" } ] }, { "title": "Identification of eight novel 5`-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.", "journal": "Biochim. Biophys. Acta", "date": "2001", "authors": "Eerola I, McIntyre B, Vikkula M", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "11342228", "url": "https://glygen.org/publication/PubMed/11342228" } ] }, { "title": "Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation.", "journal": "Human molecular genetics", "date": "2001", "authors": "Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "11741838", "url": "https://glygen.org/publication/PubMed/11741838" } ] }, { "title": "KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis.", "journal": "Human molecular genetics", "date": "2002", "authors": "Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "11854171", "url": "https://glygen.org/publication/PubMed/11854171" } ] }, { "title": "Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).", "journal": "Acta neuropathologica", "date": "2002", "authors": "Kehrer-Sawatzki H, Wilda M, Braun VM, Richter HP, Hameister H", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "12172908", "url": "https://glygen.org/publication/PubMed/12172908" } ] }, { "title": "Krit 1 interactions with microtubules and membranes are regulated by Rap1 and integrin cytoplasmic domain associated protein-1.", "journal": "The FEBS journal", "date": "2007", "authors": "Beraud-Dufour S, Gautier R, Albiges-Rizo C, Chardin P, Faurobert E", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "17916086", "url": "https://glygen.org/publication/PubMed/17916086" } ] }, { "title": "Exploring the human leukocyte phosphoproteome using a microfluidic reversed-phase-TiO2-reversed-phase high-performance liquid chromatography phosphochip coupled to a quadrupole time-of-flight mass spectrometer.", "journal": "Analytical chemistry", "date": "2010", "authors": "Raijmakers R, Kraiczek K, de Jong AP, Mohammed S, Heck AJ", "evidence": [ { "database": "iPTMnet", "id": "O00522-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00522-1" } ], "reference": [ { "type": "PubMed", "id": "20058876", "url": "https://glygen.org/publication/PubMed/20058876" } ] }, { "title": "CCM1 regulates vascular-lumen organization by inducing endothelial polarity.", "journal": "Journal of cell science", "date": "2010", "authors": "Lampugnani MG, Orsenigo F, Rudini N, Maddaluno L, Boulday G, Chapon F, Dejana E", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "20332120", "url": "https://glygen.org/publication/PubMed/20332120" } ] }, { "title": "Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010-07-13", "authors": "W\u00fcstehube Joycelyn, Bartol Arne, Liebler Sven S, Br\u00fctsch Ren\u00e9, Zhu Yuan, Felbor Ute, Sure Ulrich, Augustin Hellmut G, Fischer Andreas", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "20616044", "url": "https://glygen.org/publication/PubMed/20616044" } ] }, { "title": "KRIT1 regulates the homeostasis of intracellular reactive oxygen species.", "journal": "PloS one", "date": "2010-07-26", "authors": "Goitre Luca, Balzac Fiorella, Degani Simona, Degan Paolo, Marchi Saverio, Pinton Paolo, Retta Saverio Francesco", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "20668652", "url": "https://glygen.org/publication/PubMed/20668652" } ] }, { "title": "A mechanism of Rap1-induced stabilization of endothelial cell--cell junctions.", "journal": "Molecular biology of the cell", "date": "2011", "authors": "Liu JJ, Stockton RA, Gingras AR, Ablooglu AJ, Han J, Bobkov AA, Ginsberg MH", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "21633110", "url": "https://glygen.org/publication/PubMed/21633110" } ] }, { "title": "Structural basis for small G protein effector interaction of Ras-related protein 1 (Rap1) and adaptor protein Krev interaction trapped 1 (KRIT1).", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Li X, Zhang R, Draheim KM, Liu W, Calderwood DA, Boggon TJ", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "22577140", "url": "https://glygen.org/publication/PubMed/22577140" } ] }, { "title": "Structural basis of the junctional anchorage of the cerebral cavernous malformations complex.", "journal": "The Journal of cell biology", "date": "2012", "authors": "Gingras AR, Liu JJ, Ginsberg MH", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "23007647", "url": "https://glygen.org/publication/PubMed/23007647" } ] }, { "title": "Mechanism for KRIT1 release of ICAP1-mediated suppression of integrin activation.", "journal": "Molecular cell", "date": "2013", "authors": "Liu W, Draheim KM, Zhang R, Calderwood DA, Boggon TJ", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "23317506", "url": "https://glygen.org/publication/PubMed/23317506" } ] }, { "title": "Defective autophagy is a key feature of cerebral cavernous malformations.", "journal": "EMBO molecular medicine", "date": "2015", "authors": "Marchi S, Corricelli M, Trapani E, Bravi L, Pittaro A, Delle Monache S, Ferroni L, Patergnani S, Missiroli S, Goitre L, Trabalzini L, Rimessi A, Giorgi C, Zavan B, Cassoni P, Dejana E, Retta SF, Pinton P", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "26417067", "url": "https://glygen.org/publication/PubMed/26417067" } ] }, { "title": "Structural analysis of the KRIT1 ankyrin repeat and FERM domains reveals a conformationally stable ARD-FERM interface.", "journal": "J. Struct. Biol.", "date": "2015", "authors": "Zhang Rong, Li Xiaofeng, Boggon Titus J", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "26458359", "url": "https://glygen.org/publication/PubMed/26458359" } ] }, { "title": "Protein kinase Calpha regulates the nucleocytoplasmic shuttling of KRIT1.", "journal": "Journal of cell science", "date": "2021", "authors": "De Luca E, Perrelli A, Swamy H, Nitti M, Passalacqua M, Furfaro AL, Salzano AM, Scaloni A, Glading AJ, Retta SF", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" }, { "database": "iPTMnet", "id": "O00522", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00522" } ], "reference": [ { "type": "PubMed", "id": "33443102", "url": "https://glygen.org/publication/PubMed/33443102" } ] }, { "title": "Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants.", "journal": "Clinical genetics", "date": "2021", "authors": "Fusco C, Nardella G, Petracca A, Ronchi D, Paciello N, Di Giacomo M, Gambardella S, Lanfranconi S, Zampatti S, D'Agruma L, Micale L, Castori M", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" } ], "reference": [ { "type": "PubMed", "id": "33604894", "url": "https://glygen.org/publication/PubMed/33604894" } ] }, { "title": "KRIT1 Gene in Patients with Cerebral Cavernous Malformations: Clinical Features and Molecular Characterization of Novel Variants.", "journal": "Journal of molecular neuroscience : MN", "date": "2021", "authors": "Ricci C, Cerase A, Riolo G, Manasse G, Battistini S", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" } ], "reference": [ { "type": "PubMed", "id": "33651268", "url": "https://glygen.org/publication/PubMed/33651268" } ] }, { "title": "Cancer-secreted exosomal miR-21-5p induces angiogenesis and vascular permeability by targeting KRIT1.", "journal": "Cell death & disease", "date": "2021", "authors": "He Q, Ye A, Ye W, Liao X, Qin G, Xu Y, Yin Y, Luo H, Yi M, Xian L, Zhang S, Qin X, Zhu W, Li Y", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" } ], "reference": [ { "type": "PubMed", "id": "34088891", "url": "https://glygen.org/publication/PubMed/34088891" } ] }, { "title": "A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations.", "journal": "Neurogenetics", "date": "2023-04", "authors": "Li Chunwang, Liu Penghui, Huang Weilin, Wang Haojie, Ma Ke, Zhuo Lingyun, Kang Yaqing, He Qiu, Lin Yuanxiang, Kang Dezhi, Lin Fuxin", "evidence": [ { "database": "RefSeq", "id": "NP_001013424", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001013424" } ], "reference": [ { "type": "PubMed", "id": "36892712", "url": "https://glygen.org/publication/PubMed/36892712" } ] }, { "title": "Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22.", "journal": "Oncogene", "date": "1997", "authors": "Serebriiskii I, Estojak J, Sonoda G, Testa JR, Golemis EA", "evidence": [ { "database": "UniProtKB", "id": "O00522", "url": "https://www.uniprot.org/uniprot/O00522" } ], "reference": [ { "type": "PubMed", "id": "9285558", "url": "https://glygen.org/publication/PubMed/9285558" } ] } ], "pathway": [ { "id": "hsa:889", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:889", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "G3V8Z6-1", "protein_name": "KRIT1, ankyrin repeat containing", "gene_name": "Krit1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MGNPENIEDVYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQGNSEIAQGILDYVVETTKPISPANQGIKGKRVVLMKKFPLDGEKTGREAALFIVPSVVKDNTKYAYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYAAELGQIENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVVEDKERQWVDDFPLHRNACEGDSELLSHLLDKGFSVNQLDNDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHSEIVQILLTHPDIDRHITDQQGRSPLNVCEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTAQQIMEGMRLSQETQQCFTIWICSENLSLQFKPYHKPLQQVRDWPEILAELTNLDPQRETPQLFLRRDVGLPLEVEKKIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPITKLKSKAPHWINRILHEYKNLSMSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKALLISLKYCCFTWQLGDAGTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPSERNS", "length": 736 }, "evidence": [ { "id": "45920680", "url": "http://www.informatics.jax.org/homology/45920680", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6S5J6-1", "protein_name": "Krev interaction trapped protein 1", "gene_name": "Krit1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQSNSEIAQGILDYVVETTKPISPANQGIKGKRVVLMRKFPLDGEKTGREAALFIVPSVVKDNTKYAYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYAAELGQVDNSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVVEDKERQWVDDFPLHRNACEGDSELLSHLLDKGLSVNQLDNDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLTHPDIDRHITDQQGRSPLNVCEENKQNNWEEAAKLLKDAINKPYEKVRIYRMDGSYRSVELKHGNNTTAQQIMEGMRLSQETQRYFTIWICSENLSLQFKPYHKPLQQVHDWPEILAELTNLDPQRETPQLFLRRDVGLPLEVEKKIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEETLKSIVPITKLKSKAPHWINRILHEYKNLSLSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKALLISLKYCCFTWQLGDAGTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPSERNS", "length": 736 }, "evidence": [ { "id": "45920680", "url": "http://www.informatics.jax.org/homology/45920680", "database": "MGI" } ], "common_name": "Mouse" } ], 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