{ "uniprot_canonical_ac": "O60303-1", "uniprot_ac": "O60303", "uniprot_id": "KATIP_HUMAN", "mass": { "chemical_mass": 180918.0, "monoisotopic_mass": 180918.0 }, "refseq": { "ac": "NP_056017", "name": "katanin-interacting protein", "summary": "This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" }, "gene_names": [ { "name": "KATNIP", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60303", "id": "O60303" }, { "name": "JBTS26; KIAA0556", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017", "id": "NP_056017" }, { "name": "KATNIP", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017", "id": "NP_056017" }, { "name": "KIAA0556", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60303", "id": "O60303" } ], "protein_names": [ { "name": "Katanin-interacting protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60303" }, { "name": "katanin-interacting protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017", "id": "NP_056017" } ], "function": [ { "annotation": "Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. Review article Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" }, { "database": "PubMed", "id": "32164589", "url": "https://glygen.org/publication/PubMed/32164589" } ] }, { "annotation": "Homozygous truncating mutations in both ADGRG1/GPR56 and KIAA0556 are found in brothers displaying an overlap of polymicrogyria, hydrocephalus, and Joubert syndrome", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" }, { "database": "PubMed", "id": "30982090", "url": "https://glygen.org/publication/PubMed/30982090" } ] }, { "annotation": "KIAA0556 mutation identified in patients with Joubert syndrome. KIAA0556 binds to microtubules, p60/p80 katanins and genetically interacts with ARL13B. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" }, { "database": "PubMed", "id": "26714646", "url": "https://glygen.org/publication/PubMed/26714646" } ] }, { "annotation": "May influence the stability of microtubules (MT), possibly through interaction with the MT-severing katanin complex.", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303#function" }, { "database": "PubMed", "id": "26714646", "url": "https://glygen.org/publication/PubMed/26714646" } ] }, { "annotation": "Pathogenic germline variants of KIAA0556 associated with hypothalamic hamartoma were found.", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" }, { "database": "PubMed", "id": "31197031", "url": "https://glygen.org/publication/PubMed/31197031" } ] }, { "annotation": "The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia.", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" }, { "database": "PubMed", "id": "37665596", "url": "https://glygen.org/publication/PubMed/37665596" } ] }, { "annotation": "This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016].", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" } ] }, { "annotation": "Whole exome sequencing in a multiplex consanguineous family from India revealed a KIAA0556 homozygous single base pair deletion mutation (c.4420del; p.Met1474Cysfs*11). Knockdown of the gene in zebrafish resulted in a ciliopathy phenotype, rescued by co-injection of wildtype cDNA", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" }, { "database": "PubMed", "id": "27245168", "url": "https://glygen.org/publication/PubMed/27245168" } ] } ], "disease": [ { "disease_id": "DOID:0110995", "recommended_name": { "id": "DOID:0110995", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110995", "name": "Joubert syndrome 26", "description": "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12." }, "synonyms": [ { "id": "DOID:0110995", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110995", "name": "JBTS26", "description": "" }, { "id": "MONDO:0014771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014771", "name": "Joubert syndrome 26", "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the KIAA0556 gene." }, { "id": "MONDO:0014771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014771", "name": "JBTS26", "description": "" }, { "id": "MONDO:0014771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014771", "name": "Joubert syndrome 26", "description": "" }, { "id": "MONDO:0014771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014771", "name": "Joubert syndrome caused by mutation in KIAA0556", "description": "" }, { "id": "MONDO:0014771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014771", "name": "Joubert syndrome type 26", "description": "" }, { "id": "MONDO:0014771", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014771", "name": "KIAA0556 Joubert syndrome", "description": "" }, { "id": "MIM:616784", "resource": "MIM", "url": "https://www.omim.org/entry/616784", "name": "Joubert syndrome 26", "description": "Joubert syndrome 26" } ], "evidence": [ { "id": "616784", "database": "MIM", "url": "https://www.omim.org/entry/616784" } ] } ], "snv": [ { "evidence": [ { "id": "O60303", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60303" } ], "glycoeffect": [], "start_pos": 152, "end_pos": 152, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "16", "chr_pos": "27648649", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E152", "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": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "disease_id": "DOID:1793", "recommended_name": { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic cancer", "description": "An endocrine gland cancer located_in the pancreas." }, "synonyms": [ { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "Ca tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of body of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of head of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "malignant neoplasm of tail of pancreas", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreas neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic neoplasm", "description": "" }, { "id": "DOID:1793", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1793", "name": "pancreatic tumor", "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": "80.6", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.35", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "73.55", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "82.05", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "85.73", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "65.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.66", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "91.9", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "65.73", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "77.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "89.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.27", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": 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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://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60303" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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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": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" } ], "common_name": "Human" } ], "gene": [ { "name": "KATNIP", "url": "https://www.uniprot.org/uniprot/O60303", "locus": { "chromosome": "16", "start_pos": 27780344, "end_pos": 27550133, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000047578", "url": "https://www.ensembl.org/id/ENSG00000047578" } ] } } ], "crossref": [ { "id": "ENSG00000047578", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000047578", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60303", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60303", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "KATNIP", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KATNIP", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "23247", "url": "https://www.ncbi.nlm.nih.gov/gene/23247", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "29068", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29068", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O60303", "url": "https://www.ebi.ac.uk/intact/interactors/id:O60303*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR026704", "url": "https://www.ebi.ac.uk/interpro/entry/IPR026704", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027859", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027859", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:23247", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23247", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "616650", "url": "http://www.omim.org/entry/616650", "database": "MIM", "categories": [ "Other" ] }, { "id": "616784", "url": "http://www.omim.org/entry/616784", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60303", "url": "https://www.nextprot.org/entry/NX_O60303", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "O60303", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60303", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "ERYMWTC", "url": "https://omabrowser.org/oma/group/ERYMWTC/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "12466at2759", "url": "http://www.orthodb.org/?query=12466at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR21534", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21534", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR21534:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR21534:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF14652", "url": "http://pfam.xfam.org/family/PF14652", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60303", "url": "https://pharos.nih.gov/targets/O60303", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60303", "url": "http://purl.obolibrary.org/obo/PR_O60303", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A087X098", "url": "https://www.uniprot.org/uniprot/A0A087X098", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A087X098-1", "url": "https://www.uniprot.org/uniprot/A0A087X098-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNJ6", "url": "https://www.uniprot.org/uniprot/H3BNJ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BNJ6-1", "url": "https://www.uniprot.org/uniprot/H3BNJ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPM2", "url": "https://www.uniprot.org/uniprot/H3BPM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "H3BPM2-1", "url": "https://www.uniprot.org/uniprot/H3BPM2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60303-1", "url": "https://www.uniprot.org/uniprot/O60303-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDGQTLRKAERSWSCSREKKEGYAKDMVTDFDEKHDEYLILLQQRNRILKHLKSKDPVQLRLEHLEQGFSVYVNGANSELKSSPRKAIHSDFSRSASHTEGTHDYGRRTLFREAEEALRRSSRTAPSKVQRRGWHQKSVQIRTEAGPRLHIEPPVDYSDDFELCGDVTLQANNTSEDRPQELRRSLELSVNLQRKQKDCSSDEYDSIEEDILSEPEPEDPALVGHPRHDRPPSSGDWTQKDVHGEQETEGRSSPGPDTLVVLEFNPASKSHKRERNLSAKRKDNAEVFVPTKPEPNLTPQAPAVFPDQERMCSRPGSRRERPLSATRKTLCEAEYPEEDASAVLQAIQVENAALQRALLSRKAEQPASPLQDAEGPPAKPWTSLLEEKEETLELLPITTATTTQEPAGAAGGARAINQAMDRIGLLGSRQQQKLLKVLQAVESDSAHLGRVVSPTKEQVSDTEDKQRMRADEIKDAIYVTMEILSNWGNSWWVGLTEVEFFDLNDTKLYVSPHDVDIRNTATPGELGRLVNRNLAGKKDSSPWTCPFHPPLQLFFVIRNTRQLGDFHLAKIKVRNYWTADGDLDIGAKNVKLYVNRNLIFNGKLDKGDREAPADHSILVDQKNEKSEQLEEAMNAHSEESKGTHEMAGASGDKELGLGCSPPAETLADAKLSSQGNVSGKRKNSTNCRKDSLSQLEEYLRLSAVPTSMGDMPSAPATSPPVKCPPVHEEPSLIQQLENLMGRKICEPPGKTPSWLQPSPTGKDRKQGGRKPKPLWLSPEKPLAWKGRLPSDDVIGEGPGETEARDKGLRHEPGWGTSRSVNTKERPQRATTKVHSDDSDIFNQPPNRERPASGRRGSRKDAGSSSHGDDQPASREDTWSSRTPSRSRWRSEQEHTLHESWSSLSAFDRSHRGRISNTELPGDILDELLQQKSSRHSDLPPSKKGEQPGLSRGQDGYSGETDAGGDFKIPVLPYGQRLVIDIKSTWGDRHYVGLNGIEIFSSKGEPVQISNIKADPPDINILPAYGKDPRVVTNLIDGVNRTQDDMHVWLAPFTRGRSHSITIDFTHPCHVALIRIWNYNKSRIHSFRGVKDITMLLDTQCIFEGEIAKASGTLAGAPEHFGDTILFTTDDDILEAIFYSDEMFDLDVGSLDSLQDEEAMRRPSTADGEGDERPFTQAGLGADERIPELELPSSSPVPQVTTPEPGIYHGICLQLNFTASWGDLHYLGLTGLEVVGKEGQALPIHLHQISASPRDLNELPEYSDDSRALDKLIDGTNITMEDEHMWLIPFSPGLDHVVTIRLDRAESIAGLRFWNYNKSPEDTYRGAKIVHVSLDGLCVSPPEGFLIRKGPGNCHFDFAQEILFVDYLRAQLLPQPARRLDMRSLECASMDYEAPLMPCGFIFQFQLLTSWGDPYYIGLTGLELYDERGEKIPLSENNIAAFPDSVNSLEGVGGDVRTPDKLIDQVNDTSDGRHMWLAPILPGLVNRVYVIFDLPTTVSMIKLWNYAKTPHRGVKEFGLLVDDLLVYNGILAMVSHLVGGILPTCEPTVPYHTILFTEDRDIRHQEKHTTISNQAEDQDVQMMNENQIITNAKRKQSVVDPALRPKTCISEKETRRRRC", "length": 1618, "header": "sp|O60303-1|KATIP_HUMAN Isoform 1 of Katanin-interacting protein OS=Homo sapiens OX=9606 GN=KATNIP PE=1 SV=4 CANONICAL=O60303-1" }, "isoforms": [ { "isoform_ac": "A0A087X098-1", "url": "", "sequence": { "sequence": "EYLILLQQRNRILKHLKSKDPVQLRLEHLEQGFSVYVNGANSELKSSPRKAIHSDFSRSASHTEGTHDYGRRTLFREAEEALRRSSRTAPSKVQRRGWHQVWRLWPQPTL", "length": 110, "header": "tr|A0A087X098-1|A0A087X098_HUMAN Computationally mapped isoform of Katanin interacting protein OS=Homo sapiens OX=9606 GN=KATNIP PE=1 SV=1 CANONICAL=O60303-1" }, "locus": { "chromosome": "16", "start_pos": 27631192, "end_pos": 27618470, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000618117.1", "url": "https://www.ensembl.org/id/ENST00000618117.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000483214.1", "url": "https://www.ensembl.org/id/ENSP00000483214.1" } ] } }, { "isoform_ac": "H3BNJ6-1", "url": "", "sequence": { "sequence": "XLRKAERSWSCSREKKEGYAKDMVTDFDEKHDEYLILLQQRNRILKHLKSKDPVQLRLEHLEQGFSVYVNGANSELKSSPRKAIHSDFSRSASHTEGTHDYGRRTLFREAEEALRRSSRTAPSKVQRRGWHQKSVQIRTEAGPRLHIEPPVDYSDDFELCGDVTLQANNTSEDRPQDTKSPTSTKPCGFNFSLLNACGHSDPSSSVDKERILLTIQDVMELRRSLELSVNLQRKQKDCSSDEYDSIEED", "length": 249, "header": "tr|H3BNJ6-1|KATIP_HUMAN Computationally mapped isoform of Katanin-interacting protein OS=Homo sapiens OX=9606 GN=KATNIP PE=1 SV=1 CANONICAL=O60303-1" }, "locus": { "chromosome": "16", "start_pos": 27677818, "end_pos": 27573907, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000568258.5", "url": "https://www.ensembl.org/id/ENST00000568258.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000454884.1", "url": "https://www.ensembl.org/id/ENSP00000454884.1" } ] } }, { "isoform_ac": "H3BPM2-1", "url": "", "sequence": { "sequence": "XRSWSCSREKKEDIKAFEKQGPRAIEAGALGARFLCLCQRCQFGAEIITAESYSL", "length": 55, "header": "tr|H3BPM2-1|H3BPM2_HUMAN Computationally mapped isoform of Katanin interacting protein OS=Homo sapiens OX=9606 GN=KATNIP PE=4 SV=2 CANONICAL=O60303-1" }, "locus": { "chromosome": "16", "start_pos": 27628790, "end_pos": 27573922, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000565672.5", "url": "https://www.ensembl.org/id/ENST00000565672.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000455380.1", "url": "https://www.ensembl.org/id/ENSP00000455380.1" } ] } }, { "isoform_ac": "O60303-1", "url": "", "sequence": { "sequence": "MDGQTLRKAERSWSCSREKKEGYAKDMVTDFDEKHDEYLILLQQRNRILKHLKSKDPVQLRLEHLEQGFSVYVNGANSELKSSPRKAIHSDFSRSASHTEGTHDYGRRTLFREAEEALRRSSRTAPSKVQRRGWHQKSVQIRTEAGPRLHIEPPVDYSDDFELCGDVTLQANNTSEDRPQELRRSLELSVNLQRKQKDCSSDEYDSIEEDILSEPEPEDPALVGHPRHDRPPSSGDWTQKDVHGEQETEGRSSPGPDTLVVLEFNPASKSHKRERNLSAKRKDNAEVFVPTKPEPNLTPQAPAVFPDQERMCSRPGSRRERPLSATRKTLCEAEYPEEDASAVLQAIQVENAALQRALLSRKAEQPASPLQDAEGPPAKPWTSLLEEKEETLELLPITTATTTQEPAGAAGGARAINQAMDRIGLLGSRQQQKLLKVLQAVESDSAHLGRVVSPTKEQVSDTEDKQRMRADEIKDAIYVTMEILSNWGNSWWVGLTEVEFFDLNDTKLYVSPHDVDIRNTATPGELGRLVNRNLAGKKDSSPWTCPFHPPLQLFFVIRNTRQLGDFHLAKIKVRNYWTADGDLDIGAKNVKLYVNRNLIFNGKLDKGDREAPADHSILVDQKNEKSEQLEEAMNAHSEESKGTHEMAGASGDKELGLGCSPPAETLADAKLSSQGNVSGKRKNSTNCRKDSLSQLEEYLRLSAVPTSMGDMPSAPATSPPVKCPPVHEEPSLIQQLENLMGRKICEPPGKTPSWLQPSPTGKDRKQGGRKPKPLWLSPEKPLAWKGRLPSDDVIGEGPGETEARDKGLRHEPGWGTSRSVNTKERPQRATTKVHSDDSDIFNQPPNRERPASGRRGSRKDAGSSSHGDDQPASREDTWSSRTPSRSRWRSEQEHTLHESWSSLSAFDRSHRGRISNTELPGDILDELLQQKSSRHSDLPPSKKGEQPGLSRGQDGYSGETDAGGDFKIPVLPYGQRLVIDIKSTWGDRHYVGLNGIEIFSSKGEPVQISNIKADPPDINILPAYGKDPRVVTNLIDGVNRTQDDMHVWLAPFTRGRSHSITIDFTHPCHVALIRIWNYNKSRIHSFRGVKDITMLLDTQCIFEGEIAKASGTLAGAPEHFGDTILFTTDDDILEAIFYSDEMFDLDVGSLDSLQDEEAMRRPSTADGEGDERPFTQAGLGADERIPELELPSSSPVPQVTTPEPGIYHGICLQLNFTASWGDLHYLGLTGLEVVGKEGQALPIHLHQISASPRDLNELPEYSDDSRALDKLIDGTNITMEDEHMWLIPFSPGLDHVVTIRLDRAESIAGLRFWNYNKSPEDTYRGAKIVHVSLDGLCVSPPEGFLIRKGPGNCHFDFAQEILFVDYLRAQLLPQPARRLDMRSLECASMDYEAPLMPCGFIFQFQLLTSWGDPYYIGLTGLELYDERGEKIPLSENNIAAFPDSVNSLEGVGGDVRTPDKLIDQVNDTSDGRHMWLAPILPGLVNRVYVIFDLPTTVSMIKLWNYAKTPHRGVKEFGLLVDDLLVYNGILAMVSHLVGGILPTCEPTVPYHTILFTEDRDIRHQEKHTTISNQAEDQDVQMMNENQIITNAKRKQSVVDPALRPKTCISEKETRRRRC", "length": 1618, "header": "sp|O60303-1|KATIP_HUMAN Isoform 1 of Katanin-interacting protein OS=Homo sapiens OX=9606 GN=KATNIP PE=1 SV=4 CANONICAL=O60303-1" }, "locus": { "chromosome": "16", "start_pos": 27778626, "end_pos": 27550171, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000261588.10", "url": "https://www.ensembl.org/id/ENST00000261588.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000261588.4", "url": "https://www.ensembl.org/id/ENSP00000261588.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60303", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60303" }, { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "phosphorylation": [ { "start_pos": 453, "end_pos": 453, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60303", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60303" } ], "site_lbl": "Ser453" }, { "start_pos": 660, "end_pos": 660, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60303", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60303" } ], "site_lbl": "Ser660" }, { "start_pos": 691, "end_pos": 691, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O60303", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60303" } ], "site_lbl": "Ser691" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "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": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" }, { "database": "iPTMnet", "id": "O60303", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60303" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "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": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" }, { "database": "iPTMnet", "id": "O60303", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60303" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.", "journal": "Genome Biol.", "date": "2015", "authors": "Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" }, { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" } ], "reference": [ { "type": "PubMed", "id": "26714646", "url": "https://glygen.org/publication/PubMed/26714646" } ] }, { "title": "Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.", "journal": "Human genetics", "date": "2016", "authors": "Roosing S, Rosti RO, Rosti B, de Vrieze E, Silhavy JL, van Wijk E, Wakeling E, Gleeson JG", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" } ], "reference": [ { "type": "PubMed", "id": "27245168", "url": "https://glygen.org/publication/PubMed/27245168" } ] }, { "title": "Autozygome and high throughput confirmation of disease genes candidacy.", "journal": "Genet. Med.", "date": "2019", "authors": "Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR, AlHashem A, Rahbeeni Z, Al-Otaibi M, Alzaidan HI, Balobaid A, El Khashab HY, Bubshait DK, Faden M, Yamani SA, Dabbagh O, Al-Mureikhi M, Jasser AA, Alsaif HS, Alluhaydan I, Seidahmed MZ, Alabbasi BH, Almogarri I, Kurdi W, Akleh H, Qari A, Al Tala SM, Alhomaidi S, Kentab AY, Salih MA, Chedrawi A, Alameer S, Tabarki B, Shamseldin HE, Patel N, Ibrahim N, Abdulwahab F, Samira M, Goljan E, Abouelhoda M, Meyer BF, Hashem M, Shaheen R, AlShahwan S, Alfadhel M, Ben-Omran T, Al-Qattan MM, Monies D, Alkuraya FS", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" } ], "reference": [ { "type": "PubMed", "id": "30237576", "url": "https://glygen.org/publication/PubMed/30237576" } ] }, { "title": "Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556.", "journal": "Neurogenetics", "date": "2019", "authors": "Cauley ES, Hamed A, Mohamed IN, Elseed M, Martinez S, Yahia A, Abozar F, Abubakr R, Koko M, Elsayed L, Piao X, Salih MA, Manzini MC", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" } ], "reference": [ { "type": "PubMed", "id": "30982090", "url": "https://glygen.org/publication/PubMed/30982090" } ] }, { "title": "Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma.", "journal": "Neurology", "date": "2019", "authors": "Fujita A, Higashijima T, Shirozu H, Masuda H, Sonoda M, Tohyama J, Kato M, Nakashima M, Tsurusaki Y, Mitsuhashi S, Mizuguchi T, Takata A, Miyatake S, Miyake N, Fukuda M, Kameyama S, Saitsu H, Matsumoto N", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" } ], "reference": [ { "type": "PubMed", "id": "31197031", "url": "https://glygen.org/publication/PubMed/31197031" } ] }, { "title": "Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.", "journal": "BMC pediatrics", "date": "2020", "authors": "Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" } ], "reference": [ { "type": "PubMed", "id": "32164589", "url": "https://glygen.org/publication/PubMed/32164589" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60303", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60303" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] }, { "title": "The Scaffold Protein KATNIP Enhances CILK1 Control of Primary Cilia.", "journal": "Molecular and cellular biology", "date": "2023", "authors": "Turner Jacob S, McCabe Ellie A, Kuang Kevin W, Gailey Casey D, Brautigan David L, Limerick Ana, Wang Elena X, Fu Zheng", "evidence": [ { "database": "RefSeq", "id": "NP_056017", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_056017" } ], "reference": [ { "type": "PubMed", "id": "37665596", "url": "https://glygen.org/publication/PubMed/37665596" } ] } ], "pathway": [ { "id": "hsa:23247", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23247", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "F1LX85-1", "protein_name": "Katanin interacting protein", "gene_name": "Katnip", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSFFSIGPEPRSNQGNCKQCQGRFRFGRPEPPPLGMDGQALRKVERSRSCSQERKEGYSKDMVTDFDEKHDEYLILLQQRNRILKHLKAKDPVQLRLEHLEQGFSVYVNGANSELKTSPRKAVHTDFSRSASQAEGSQDYGRRTLFREAEEVLRCSSRTAPGKVQRRGWHQKSVQIRTEAGSRLHIEPPLDCSEDFESHEDVIDKHEDATGDHTQELRKGLGLSTSLQTQEDGSSDEYDSIEEDVLSETETEDPVLPVYARDECPLPSHDAVLKDVPKDQELEGRPPQTTDTLVVMEFNPASKSNKMERILSAKRKENAEVFILSKPESVLNPQPPAVFPDQERACSRSGSRRDRPLSATRKACAAEDREEDASAVLKAIQVENAALQQVLLSQDPELQTSPQQDAKEPPVKSRPSLLKAKEDIPEPLAVTPVTTNPELCRTAGGAKAVSQALDRMSPLGSRQQHKLLGVLQTVESDTTHPSQVAIPTEKPGPDPEEKWKARIDEIEDAIYVTMEILSNWGNASWVGLTEVQFFDLNNIKLYVSPHDVDIRNAVLPGELGCLVNRDLVSKKDPPVWTCPFHPPLQLYFIIHNMQQLRDFGLATIKVRNYWTADGDLDIGAKNVKLYVNKSLLFDGVLEKGGGEAPFDCTIPVDLQSEKNENPEKALRTDWKESKGALKMAATGKDKELGLSCLQPAESLDMSVSSQGDFLGEKVNATYCPKKSLSKLQEDVRLLATPASMGDGPSVPSSSSPGKCLPLEEELSFIQQLENLRSRKIPEPTGKTPHWLQPSLTGMGKKQTVRKPKPLWLSPEKDLEQKSRLPSYDVIGDASGEVEAREKGPRREQGRSSSWNVITEERPPKASSKACGSDLDIFSQPPSRDRPASGRRALKKDASSSHGDDRPASKEDAQATQTLPWLQWDGEQEHALHASWDSLTAFDRAHRGRISALEPQGDILDEFLKQQRSSRHEEYPAPGREEESEPSTETDGDSDFKIPVLPYGQHLVIDIKSTWGDRHYVGLNGIEIFSSSGEPVQISSITADPPDINILPAYGKDPRVVSNLIDGVNRTQDDMHVWLAPFTPGMTHTISIEFTHPCQVALIRIWNYNKSRIHSFRGVKDITMLLDTQCIFEGEIAKASGTLMGAPEHFGDTILFTTDEDILEAIFCLDDTFDMDAESLCGLQPEEALRRPSTADGEGQDERPFTQAGLGAQDQVPGLELQSGPPVSDVFTPEPGIFYGLCLRLNFTASWGDLHYIGLTGLEVVGKDGEALPIQPQQLSASPRDLNDLPEYSDDSRTLDKLIDGMNITTEDEHMWLIPFSPGLDHVVMIHFDRAQSIAGLRLWNYNKSPEDTYRGVKIAHVSLDGLCVSPAEGFLIRKGPGNCHFDFAQEILFGDYLQTRLPPAPSRRLDAKSLERASMDYEAPLMPCGFIFQFQLLSSWGDPYYIGLTGLELYDEHGERIPLSQNNIAAFPDSVNALEGVCGDVRTPDKLIDQVNDTSDGRHMWLAPILPGLVNRVYVIFDLPTTVSMIKLWNYTKTPQRGVKEFGLLVDDLLVYNGILAMVSHVVGGILPTCEPTVPHHTILFAEDTDLCHQEKHTIISKPEEDQDIQMMNENQVITTSRRKPATADPALRPKTCIREKESSRRWRC", "length": 1645 }, "evidence": [ { "id": "45241670", "url": "http://www.informatics.jax.org/homology/45241670", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8C753-1", "protein_name": "Katanin-interacting protein", "gene_name": "Katnip", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MDGQALRKVERSRSCSQERKEGYSKDMVTDFDEKHDEYLILLQQRNRILKHLKAKDPVQLRLEHLEQGFSVYVNGANSELKTSPRKAVHTDFSRSASQAEGSQDYGRRTLFREAEEVLRRSSRTAPGKVQRRGWHQKSVQIRTEAGSRLHIEPPLDCSEDFESQEDVIGKHEDATGEHTQELRKGLGLSTSLQTQEDGSSDEYDSIEEDVLSETETEDPVLPVHNRDECPLPSHDAVQKDVPKDQELEGRHPQATDTLVVMEFNPASKGNKMDRILSAKRKENAEVFIPSKPDSVLNPQPPAVFPEQERACSRSGSRRDRPLSATRKAYAAEDREEDASAVLKAIQVENEALQQVFLSHDPELHTSPQQDTKEPPAKSWSSLLKAKEDIPELLPATPVTTDPELCRAAAGAKAVSQAMDGMSPLGSRQQHKLVGVLQTMESDTTHLSQVAIPTEKPVPNSEEKWKARVDEIEDAIYVTMEILSNWGNASWVGLTEVQFFDLNNIKLYVSPHDVDIRNAVLPGELGCLVNRDLVSKKDPPVWTCPFHPPLQLYFIIHNMRQLRDFGLTMIKVRNYWTADGDLDIGAKNVKLYVNKSLIFDGVLEKGGGEAPSDCTIPVDLQRERNESSDKALSTGWKESKGALKMAALSDARELGLSCSQPAESLDMTVSSQGDFLGEKVNSTSGLKNSLSKLQEDVRLLATPASMGDGPSVPSSSSPGKCLPLEEEPSLIQQLESLRGRKIPEPTGKTPHWLQPSLAGMGKKQTVRKPKPLWLSPEKDLEQKSRFPSEDVMGDTPGEVETREKGPRREQGRTSSWNVITEERAPKAFSKACGDDLDIFSQLPNRDRPASGRRALKKEASSSHGDDRPASKEDTQASQTLPWLQWYGEQEHALHASWDSLTAFDRAHRGRISALEPQGDILDEFLKQQRSSRHEEFPAPCREEEPEPSTEMGGDSDFKIPVLPYGQHLVIDIKSTWGDRHYVGLNGIEIFSSSGEPVQISSITADPPDINILPAYGKDPRVVSNLIDGVNRTQDDMHVWLAPFTPGMTHTISIEFTHPCQVALIRIWNYNKSRIHSFRGVKDITMLLDTQCIFEGEIAKASGTLMGAPEHFGDTILFTMDEDILEAIFCLDDTFDMDAESLCGLQPEEALRRPSTADGEGQDERPFTQAGLGAQDQVPGLELQTSPPVSEVTTPEPGIFYGLCLRLNLTASWGDLHYIGLTGLEVVGKDGEALPIQPHQLSASPRDLNDLPEYNDDSRTLDKLIDGMNITTEDEHMWLIPFSPGLDHVVMIHFDRAQSIAGLRLWNYNKSPEDTYRGVKIAHVSLDGLCVSPAEGFLIRKGPGNCHFDFAQEILFGDYLQTRLPPAPTRRLDAKSLERASMDYEAPLMPCGFIFQFQLLSSWGDPYYIGLTGLELYDEHGERIPLSQNNIAAFPDSVNALEGVCGDVRTPDKLIDQVNDTSDGRHMWLAPILPGLVNRVYVIFDLPTTVSMIKLWNYTKTPQRGVKEFGLLVDDLLVYNGILAMVSHLVGGILPTCEPTVPHHTILFAEDTDFCHQEKHAIISKPEEDQDIQMMNENQVITTSRRKPGTADPALRPKTCIREKETSRRWRC", "length": 1610 }, "evidence": [ { "id": "45241670", "url": "http://www.informatics.jax.org/homology/45241670", "database": "MGI" }, { "id": "O60303", "url": "https://omabrowser.org/oma/group/O60303/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" } ], "pmid": "" }, { "name": "cell projection", "id": "GO:0042995", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042995", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "cerebrospinal fluid circulation", "id": "GO:0090660", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090660", "evidence": [ { "database": "UniProtKB", "id": "O60303", "url": "https://www.uniprot.org/uniprot/O60303" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1039, "end_pos": 1041, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1079, "end_pos": 1081, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1215, "end_pos": 1217, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1276, "end_pos": 1278, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1316, "end_pos": 1318, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1466, "end_pos": 1468, "annotation": "n_glycosylation_sequon" }, { "start_pos": 172, "end_pos": 174, "annotation": "n_glycosylation_sequon" }, { "start_pos": 173, "end_pos": 175, "annotation": "n_glycosylation_sequon" }, { "start_pos": 276, "end_pos": 278, "annotation": "n_glycosylation_sequon" }, { "start_pos": 296, "end_pos": 298, "annotation": "n_glycosylation_sequon" }, { "start_pos": 504, "end_pos": 506, "annotation": "n_glycosylation_sequon" }, { "start_pos": 676, "end_pos": 678, "annotation": "n_glycosylation_sequon" }, { "start_pos": 683, "end_pos": 685, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { 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"table_stats": [ { "field": "total", "count": 3 }, { "field": "total_sites", "count": 3 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 10 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }