{ "uniprot_canonical_ac": "O75052-1", "uniprot_ac": "O75052", "uniprot_id": "CAPON_HUMAN", "mass": { "chemical_mass": 56150.0, "monoisotopic_mass": 56150.0 }, "refseq": { "ac": "NP_001119532", "name": "carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 2", "summary": "This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" }, "gene_names": [ { "name": "NOS1AP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75052", "id": "O75052" }, { "name": "6330408P19Rik; CAPON; NPHS22", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532", "id": "NP_001119532" }, { "name": "CAPON", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75052", "id": "O75052" }, { "name": "KIAA0464", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75052", "id": "O75052" }, { "name": "NOS1AP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532", "id": "NP_001119532" } ], "protein_names": [ { "name": "Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75052" }, { "name": "C-terminal PDZ ligand of neuronal nitric oxide synthase protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75052" }, { "name": "Nitric oxide synthase 1 adaptor protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75052" }, { "name": "carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532", "id": "NP_001119532" }, { "name": "ligand of neuronal nitric oxide synthase with carboxyl-terminal PDZ domain; carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein; C-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON); C-terminal PDZ ligand of neuronal nitric oxide synthase protein; nitric oxide synthase 1 (neuronal) adaptor protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532", "id": "NP_001119532" } ], "function": [ { "annotation": "A NOS1AP gene variant is associated with a paradoxical increase of the QT-interval shortening effect of digoxin.", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" }, { "database": "PubMed", "id": "34616002", "url": "https://glygen.org/publication/PubMed/34616002" } ] }, { "annotation": "Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). In kidney podocytes, plays a role in podosomes and filopodia formation through CDC42 activation (PubMed:33523862).", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052#function" }, { "database": "UniProtKB", "id": "O54960", "url": "https://www.uniprot.org/uniprot/O54960#function" }, { "database": "PubMed", "id": "33523862", "url": "https://glygen.org/publication/PubMed/33523862" } ] }, { "annotation": "Evaluating Common NOS1AP Variants in Patients with Implantable Cardioverter Defibrillators for Secondary Prevention : Evaluating SNPs in NOS1AP.", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" }, { "database": "PubMed", "id": "35353321", "url": "https://glygen.org/publication/PubMed/35353321" } ] }, { "annotation": "Influence of NOS1AP Risk Variants on the Corrected QT (QTc) Interval in the Pharmacotherapy of Schizophrenia.", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" }, { "database": "PubMed", "id": "35732169", "url": "https://glygen.org/publication/PubMed/35732169" } ] }, { "annotation": "PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C) polymorphisms affect therapeutic efficacy of nateglinide in Chinese patients with type 2 diabetes mellitus. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" }, { "database": "PubMed", "id": "34772419", "url": "https://glygen.org/publication/PubMed/34772419" } ] }, { "annotation": "Study adds support to a role of CAPON in schizophrenia, produces new evidence implicating this gene in the etiology of bipolar disorder, and suggests a possible mechanism of action of CAPON in psychiatric illness", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" }, { "database": "PubMed", "id": "16146415", "url": "https://glygen.org/publication/PubMed/16146415" } ] }, { "annotation": "The influence of NOS1AP gene polymorphisms and childhood abuse on antisocial personality disorder in Chinese male violent inmates.", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" }, { "database": "PubMed", "id": "36463909", "url": "https://glygen.org/publication/PubMed/36463909" } ] }, { "annotation": "This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" } ] } ], "disease": [ { "disease_id": "DOID:0112268", "recommended_name": { "id": "DOID:0112268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112268", "name": "nephrotic syndrome type 22", "description": "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3." }, "synonyms": [ { "id": "DOID:0112268", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112268", "name": "NPHS22", "description": "" }, { "id": "MONDO:0030895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030895", "name": "nephrotic syndrome, type 22", "description": "" }, { "id": "MONDO:0030895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030895", "name": "NPHS22", "description": "" }, { "id": "MONDO:0030895", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030895", "name": "nephrotic syndrome, type 22", "description": "" }, { "id": "MIM:619155", "resource": "MIM", "url": "https://www.omim.org/entry/619155", "name": "Nephrotic syndrome 22", "description": "Nephrotic syndrome 22" } ], "evidence": [ { "id": "619155", "database": "MIM", "url": "https://www.omim.org/entry/619155" } ] } ], "snv": [ { "evidence": [ { "id": "O75052", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75052" } ], "glycoeffect": [], "start_pos": 220, "end_pos": 220, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "1", "chr_pos": "162355250", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A220", "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. 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"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": "" }, { "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": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "63.09", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "64.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "74.77", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "88.26", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "65.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "70.48", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "76.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "59.28", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "51.38", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929" } ] }, { "tissue": { "name": "Liver", 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"" }, { "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": 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"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": 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75052", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75052" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75052" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75052", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75052" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"MONDO:0007576", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007576", "name": "gastric cardia adenocarcinoma, susceptibility to", "description": "" }, { "id": "MIM:133239", "resource": "MIM", "url": "https://www.omim.org/entry/133239", "name": "Esophageal cancer", "description": "Esophageal cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Colorectal cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:9256", "evidence": [ { "database": "BioXpress", "id": "O75052", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75052" } ], "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": 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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" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" } ], "common_name": "Human" } ], "gene": [ { "name": "NOS1AP", "url": "https://www.uniprot.org/uniprot/O75052", "locus": { "chromosome": "1", "start_pos": 162370475, "end_pos": 162069691, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000198929", "url": "https://www.ensembl.org/id/ENSG00000198929" } ] } } ], "crossref": [ { "id": "ENSG00000198929", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198929", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O75052", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75052", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd01270", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd01270", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "NOS1AP", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOS1AP", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9722", "url": "https://www.ncbi.nlm.nih.gov/gene/9722", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "16859", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=16859", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O75052", "url": "https://www.ebi.ac.uk/intact/interactors/id:O75052*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR006020", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006020", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR011993", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9722", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9722", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "605551", "url": "http://www.omim.org/entry/605551", "database": "MIM", "categories": [ "Other" ] }, { "id": "610141", "url": "http://www.omim.org/entry/610141", "database": "MIM", "categories": [ "Other" ] }, { "id": "619155", "url": "http://www.omim.org/entry/619155", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75052", "url": "https://www.nextprot.org/entry/NX_O75052", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "O75052", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75052", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "QNTMGSQ", "url": "https://omabrowser.org/oma/group/QNTMGSQ/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2917768at2759", "url": "http://www.orthodb.org/?query=2917768at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11232", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11232", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11232:SF76", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11232:SF76", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00640", "url": "http://pfam.xfam.org/family/PF00640", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75052", "url": "https://pharos.nih.gov/targets/O75052", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75052", "url": "http://purl.obolibrary.org/obo/PR_O75052", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "E9PIP8", "url": "https://www.uniprot.org/uniprot/E9PIP8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PIP8-1", "url": "https://www.uniprot.org/uniprot/E9PIP8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PSG0", "url": "https://www.uniprot.org/uniprot/E9PSG0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PSG0-1", "url": "https://www.uniprot.org/uniprot/E9PSG0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75052-1", "url": "https://www.uniprot.org/uniprot/O75052-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75052-2", "url": "https://www.uniprot.org/uniprot/O75052-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75052-3", "url": "https://www.uniprot.org/uniprot/O75052-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRYEFKAKNIKKKKVSIMVSVDGVKVILKKKKKLLLLQKKEWTWDESKMLVMQDPIYRIFYVSHDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRTVGQAFEVCHKLSLQHTQQNADGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDIDAVEVPLPGNDVLEFSRGVTDLDAVGKEGGSHTGSKVSHPQEPMLTASPRMLLPSSSSKPPGLGTETPLSTHHQMQLLQQLLQQQQQQTQVAVAQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLHSPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWSQEELPRLLNVLQRQELGDGLDDEIAV", "length": 506, "header": "sp|O75052-1|CAPON_HUMAN Isoform 1 of Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein OS=Homo sapiens OX=9606 GN=NOS1AP PE=1 SV=3 CANONICAL=O75052-1" }, "isoforms": [ { "isoform_ac": "E9PIP8-1", "url": "", "sequence": { "sequence": "MLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLHSPPLGAGLADFAHPAGSPLGRRDCL", "length": 81, "header": "tr|E9PIP8-1|CAPON_HUMAN Computationally mapped isoform of Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein OS=Homo sapiens OX=9606 GN=NOS1AP PE=1 SV=1 CANONICAL=O75052-1" }, "locus": { "chromosome": "1", "start_pos": 162367221, "end_pos": 162365497, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000464284.1", "url": "https://www.ensembl.org/id/ENST00000464284.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435711.1", "url": "https://www.ensembl.org/id/ENSP00000435711.1" } ] } }, { "isoform_ac": "E9PSG0-1", "url": "", "sequence": { "sequence": "MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRYEFKAKNIKKKKVSIMVSVDGVKVILKKKKKKKEWTWDESKMLVMQDPIYRIFYVSHDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRTVGQAFEVCHKLSLQHTQQNADGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDIDAVEVPLPGNDVLEFSRGVTDLDAVGKEGGSHTGSKVSHPQEPMLTASPRMLLPSSSSKPPGLGTETPLSTHHQMQLLQQLLQQQQQQTQVAVAQCVVGQIALVLSTAISMCLLLPNFSLALPSLLMEELESRYTC", "length": 349, "header": "tr|E9PSG0-1|CAPON_HUMAN Computationally mapped isoform of Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein OS=Homo sapiens OX=9606 GN=NOS1AP PE=1 SV=1 CANONICAL=O75052-1" }, "locus": { "chromosome": "1", "start_pos": 162365413, "end_pos": 162070178, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430120.3", "url": "https://www.ensembl.org/id/ENST00000430120.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000396713.3", "url": "https://www.ensembl.org/id/ENSP00000396713.3" } ] } }, { "isoform_ac": "O75052-1", "url": "", "sequence": { "sequence": "MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRYEFKAKNIKKKKVSIMVSVDGVKVILKKKKKLLLLQKKEWTWDESKMLVMQDPIYRIFYVSHDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRTVGQAFEVCHKLSLQHTQQNADGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDIDAVEVPLPGNDVLEFSRGVTDLDAVGKEGGSHTGSKVSHPQEPMLTASPRMLLPSSSSKPPGLGTETPLSTHHQMQLLQQLLQQQQQQTQVAVAQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLHSPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWSQEELPRLLNVLQRQELGDGLDDEIAV", "length": 506, "header": "sp|O75052-1|CAPON_HUMAN Isoform 1 of Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein OS=Homo sapiens OX=9606 GN=NOS1AP PE=1 SV=3 CANONICAL=O75052-1" }, "locus": { "chromosome": "1", "start_pos": 162367464, "end_pos": 162070178, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361897.10", "url": "https://www.ensembl.org/id/ENST00000361897.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000355133.5", "url": "https://www.ensembl.org/id/ENSP00000355133.5" } ] } }, { "isoform_ac": "O75052-2", "url": "", "sequence": { "sequence": "MSLSSLCPVFSAAASSLQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLHSPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWSQEELPRLLNVLQRQELGDGLDDEIAV", "length": 211, "header": "sp|O75052-2|CAPON_HUMAN Isoform 2 of Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein OS=Homo sapiens OX=9606 GN=NOS1AP PE=1 SV=3 CANONICAL=O75052-1" }, "locus": { "chromosome": "1", "start_pos": 162367464, "end_pos": 162365350, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000493151.1", "url": "https://www.ensembl.org/id/ENST00000493151.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000434988.1", "url": "https://www.ensembl.org/id/ENSP00000434988.1" } ] } }, { "isoform_ac": "O75052-3", "url": "", "sequence": { "sequence": "MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRYEFKAKNIKKKKVSIMVSVDGVKVILKKKKKKKEWTWDESKMLVMQDPIYRIFYVSHDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRTVGQAFEVCHKLSLQHTQQNADGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDIDAVEVPLPGNDVLEFSRGVTDLDAVGKEGGSHTGSKVSHPQEPMLTASPRMLLPSSSSKPPGLGTETPLSTHHQMQLLQQLLQQQQQQTQVAVAQVHLLKDQLAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLHSPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWSQEELPRLLNVLQRQELGDGLDDEIAV", "length": 501, "header": "sp|O75052-3|CAPON_HUMAN Isoform 3 of Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein OS=Homo sapiens OX=9606 GN=NOS1AP PE=1 SV=3 CANONICAL=O75052-1" }, "locus": { "chromosome": "1", "start_pos": 162367464, "end_pos": 162070178, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530878.5", "url": "https://www.ensembl.org/id/ENST00000530878.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431586.1", "url": "https://www.ensembl.org/id/ENSP00000431586.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75052", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75052" }, { "id": "26197318", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26197318" } ] } ], "phosphorylation": [ { "start_pos": 188, "end_pos": 188, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" }, { "database": "iPTMnet", "id": "O75052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75052" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O75052", "url": "http://phospho.elm.eu.org/byAccession/O75052.html" } ], "site_lbl": "Ser188" }, { "start_pos": 192, "end_pos": 192, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" }, { "database": "iPTMnet", "id": "O75052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75052" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O75052", "url": "http://phospho.elm.eu.org/byAccession/O75052.html" } ], "site_lbl": "Ser192" }, { "start_pos": 194, "end_pos": 194, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75052" }, { "database": 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417, "end_pos": 417, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" } ], "site_lbl": "Ser417" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Increased expression in dorsolateral prefrontal cortex of CAPON in schizophrenia and bipolar disorder.", "journal": "PLoS Med.", "date": "2005", "authors": "Xu B, Wratten N, Charych EI, Buyske S, Firestein BL, Brzustowicz LM", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" }, { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" } ], "reference": [ { "type": "PubMed", "id": "16146415", "url": "https://glygen.org/publication/PubMed/16146415" } ] }, { "title": "A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.", "journal": "Nat. Genet.", "date": "2006", "authors": "Arking Dan E, Pfeufer Arne, Post Wendy, Kao W H Linda, Newton-Cheh Christopher, Ikeda Morna, West Kristen, Kashuk Carl, Akyol Mahmut, Perz Siegfried, Jalilzadeh Shapour, Illig Thomas, Gieger Christian, Guo Chao-Yu, Larson Martin G, Wichmann H Erich, Marb\u00e1n Eduardo, O'Donnell Christopher J, Hirschhorn Joel N, K\u00e4\u00e4b Stefan, Spooner Peter M, Meitinger Thomas, Chakravarti Aravinda", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" } ], "reference": [ { "type": "PubMed", "id": "16648850", "url": "https://glygen.org/publication/PubMed/16648850" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "J. Proteome Res.", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" }, { "database": "iPTMnet", "id": "O75052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75052" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O75052-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75052-1" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.", "journal": "Mol. Cell", "date": "2008", "authors": "Daub H, Olsen JV, Bairlein M, Gnad F, Oppermann FS, Korner R, Greff Z, Keri G, Stemmann O, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" }, { "database": "iPTMnet", "id": "O75052-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75052-1" } ], "reference": [ { "type": "PubMed", "id": "18691976", "url": "https://glygen.org/publication/PubMed/18691976" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar C, Miller ML, Jensen LJ, Gnad F, Cox J, Jensen TS, Nigg EA, Brunak S, Mann M", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" }, { "database": "iPTMnet", "id": "O75052-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75052-1" } ], "reference": [ { "type": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" }, { "database": "iPTMnet", "id": "O75052", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75052" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "NOS1AP O-GlcNAc Modification Involved in Neuron Apoptosis Induced by Excitotoxicity.", "journal": "International journal of molecular sciences", "date": "2015", "authors": "Zhu L, Tao T, Zhang D, Liu X, Ke K, Shen A", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75052", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75052" } ], "reference": [ { "type": "PubMed", "id": "26197318", "url": "https://glygen.org/publication/PubMed/26197318" } ] }, { "title": "Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.", "journal": "Science advances", "date": "2021", "authors": "Majmundar AJ, Buerger F, Forbes TA, Klambt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" } ], "reference": [ { "type": "PubMed", "id": "33523862", "url": "https://glygen.org/publication/PubMed/33523862" } ] }, { "title": "A NOS1AP gene variant is associated with a paradoxical increase of the QT-interval shortening effect of digoxin.", "journal": "The pharmacogenomics journal", "date": "2022", "authors": "Soroush N, Aarnoudse AJ, Kavousi M, Kors JA, Ikram MA, Newton-Cheh C, Ahmadizar F, Stricker BH", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" } ], "reference": [ { "type": "PubMed", "id": "34616002", "url": "https://glygen.org/publication/PubMed/34616002" } ] }, { "title": "PPARD rs2016520 (T/C) and NOS1AP rs12742393 (A/C) polymorphisms affect therapeutic efficacy of nateglinide in Chinese patients with type 2 diabetes mellitus.", "journal": "BMC medical genomics", "date": "2021", "authors": "Wang T, Song JF, Zhou XY, Li CL, Yin XX, Lu Q", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" } ], "reference": [ { "type": "PubMed", "id": "34772419", "url": "https://glygen.org/publication/PubMed/34772419" } ] }, { "title": "Evaluating Common NOS1AP Variants in Patients with Implantable Cardioverter Defibrillators for Secondary Prevention : Evaluating SNPs in NOS1AP.", "journal": "Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing", "date": "2022", "authors": "Zang X, Zhang S, Li S, Wang X, Song W, Chen K, Ma J, Tu X, Xia Y, Zhao Y, Gao C", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" } ], "reference": [ { "type": "PubMed", "id": "35353321", "url": "https://glygen.org/publication/PubMed/35353321" } ] }, { "title": "Influence of NOS1AP Risk Variants on the Corrected QT (QTc) Interval in the Pharmacotherapy of Schizophrenia.", "journal": "Pharmacopsychiatry", "date": "2022", "authors": "Esen-Sehir D, Kopf J, Hagele S, Plichta MM, Reif A, Freudenberg F", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" } ], "reference": [ { "type": "PubMed", "id": "35732169", "url": "https://glygen.org/publication/PubMed/35732169" } ] }, { "title": "The influence of NOS1AP gene polymorphisms and childhood abuse on antisocial personality disorder in Chinese male violent inmates.", "journal": "Personality and mental health", "date": "2022-12-04", "authors": "Li Jinyang, Ouyang Lichen, Liu Xinyao, Wang Qiuyu, Min Zhang, Liu Gang, Zhong Yuan, Zhang Ning, Wang Chun, Liu Na", "evidence": [ { "database": "RefSeq", "id": "NP_001119532", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001119532" } ], "reference": [ { "type": "PubMed", "id": "36463909", "url": "https://glygen.org/publication/PubMed/36463909" } ] }, { "title": "CAPON: a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95.", "journal": "Neuron", "date": "1998", "authors": "Jaffrey SR, Snowman AM, Eliasson MJ, Cohen NA, Snyder SH", "evidence": [ { "database": "UniProtKB", "id": "O75052", "url": "https://www.uniprot.org/uniprot/O75052" } ], "reference": [ { "type": "PubMed", "id": "9459447", "url": "https://glygen.org/publication/PubMed/9459447" } ] } ], "pathway": [ { "id": "hsa:9722", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9722", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "O54960-1", "protein_name": "Carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase protein", "gene_name": "Nos1ap", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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