{ "uniprot_canonical_ac": "O43236-1", "uniprot_ac": "O43236", "uniprot_id": "SEPT4_HUMAN", "mass": { "chemical_mass": 55098.0, "monoisotopic_mass": 55098.0 }, "refseq": { "ac": "NP_001033793", "name": "septin-4 isoform 13", "summary": "This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793" }, "gene_names": [ { "name": "SEPTIN4", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43236", "id": "O43236" }, { "name": "ARTS; BRADEION; C17orf47; CE5B3; H5; hCDCREL-2; hucep-7; MART; PNUTL2; SEP4; SEPT4; Septin-4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793", "id": "NP_001033793" }, { "name": "C17orf47", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43236", "id": "O43236" }, { "name": "PNUTL2", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43236", "id": "O43236" }, { "name": "SEP4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43236", "id": "O43236" }, { "name": "SEPT4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43236", "id": "O43236" }, { "name": "SEPTIN4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793", "id": "NP_001033793" }, { "name": "hucep-7", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43236", "id": "O43236" } ], "protein_names": [ { "name": "Septin-4", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43236" }, { "name": "Bradeion beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43236" }, { "name": "Brain protein H5", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43236" }, { "name": "CE5B3 beta", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43236" }, { "name": "Cell division control-related protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43236" }, { "name": "Peanut-like protein 2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43236" }, { "name": "hCDCREL-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43236" }, { "name": "septin-4 isoform 13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793", "id": "NP_001033793" }, { "name": "septin-M; cell division control-related protein 2; cerebral protein 7; CE5B3 beta; bradeion beta; brain protein H5; peanut-like protein 2; apoptosis-related protein in the TGF-beta signaling pathway; uncharacterized protein C17orf47", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793", "id": "NP_001033793" } ], "function": [ { "annotation": "Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.", "evidence": [ { "database": "RefSeq", "id": "NP_001033793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793" }, { "database": "PubMed", "id": "36135717", "url": "https://glygen.org/publication/PubMed/36135717" } ] }, { "annotation": "Filament-forming cytoskeletal GTPase (Probable). Pro-apoptotic protein involved in LGR5-positive intestinal stem cell and Paneth cell expansion in the intestines, via its interaction with XIAP (By similarity). May also play a role in the regulation of cell fate in the intestine (By similarity). Positive regulator of apoptosis involved in hematopoietic stem cell homeostasis; via its interaction with XIAP (By similarity). Negative regulator of repair and hair follicle regeneration in response to injury, due to inhibition of hair follicle stem cell proliferation, potentially via its interaction with XIAP (By similarity). Plays an important role in male fertility and sperm motility (By similarity). During spermiogenesis, essential for the establishment of the annulus (a fibrous ring structure connecting the midpiece and the principal piece of the sperm flagellum) which is a requisite for the structural and mechanical integrity of the sperm (By similarity). Involved in the migration of cortical neurons and the formation of neuron leading processes during embryonic development (By similarity). Required for dopaminergic metabolism in presynaptic autoreceptors; potentially via activity as a presynaptic scaffold protein (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236#function" }, { "database": "UniProtKB", "id": "P28661", "url": "https://www.uniprot.org/uniprot/P28661#function" } ] }, { "annotation": "Filament-forming cytoskeletal GTPase.", "evidence": [ { "database": "UniProtKB", "id": "J3KSZ7", "url": "https://www.uniprot.org/uniprot/J3KSZ7#function" }, { "database": "UniProtKB", "id": "PIRNR006698", "url": "https://www.uniprot.org/uniprot/PIRNR006698#function" } ] }, { "annotation": "P53 induces ARTS to promote mitochondrial apoptosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001033793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793" }, { "database": "PubMed", "id": "33627621", "url": "https://glygen.org/publication/PubMed/33627621" } ] }, { "annotation": "Required for the induction of cell death mediated by TGF-beta and possibly by other apoptotic stimuli (PubMed:11146656, PubMed:15837787). Induces apoptosis through binding and inhibition of XIAP resulting in significant reduction in XIAP levels, leading to caspase activation and cell death (PubMed:15029247). Mediates the interaction between BCL2 and XIAP, thereby positively regulating the ubiquitination and degradation of BCL2 and promoting apoptosis (PubMed:29020630).", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236#function" }, { "database": "PubMed", "id": "11146656", "url": "https://glygen.org/publication/PubMed/11146656" }, { "database": "PubMed", "id": "15029247", "url": "https://glygen.org/publication/PubMed/15029247" }, { "database": "PubMed", "id": "29020630", "url": "https://glygen.org/publication/PubMed/29020630" }, { "database": "PubMed", "id": "15837787", "url": "https://glygen.org/publication/PubMed/15837787" } ] }, { "annotation": "The ARTS of p53-dependent mitochondrial apoptosis. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001033793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793" }, { "database": "PubMed", "id": "36565718", "url": "https://glygen.org/publication/PubMed/36565718" } ] }, { "annotation": "This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001033793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "O43236", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O43236" } ], "glycoeffect": [], "start_pos": 173, "end_pos": 173, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "17", "chr_pos": "58525715", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R173", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] }, { "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:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "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" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] } ], "mutagenesis": [ { "start_pos": 156, "end_pos": 158, "sequence_org": "GKS", "sequence_mut": "ENP", "comment": "Loss of TGF-beta-induced apoptosis. No translocation to the nucleus following TGF-beta treatment. Loss of XIAP-binding.", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" }, { "database": "PubMed", "id": "11146656", "url": "https://glygen.org/publication/PubMed/11146656" }, { "database": "PubMed", "id": "15029247", "url": "https://glygen.org/publication/PubMed/15029247" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.96", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108387", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108387" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "56.57", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000108387", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108387" } ] }, { "tissue": { "name": 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"score": "81.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108387", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108387" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000108387", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108387" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "74.86", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108387", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108387" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "88.01", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108387", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108387" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "63.93", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108387", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108387" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "86.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000108387", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108387" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "78.92", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000108387", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000108387" } ] }, { "tissue": { 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"http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", 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"BioXpress", "id": "O43236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43236" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", 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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": "O43236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43236" } ], "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/O43236" } ], "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": "O43236", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43236" } ], "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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PE=1 SV=1 CANONICAL=O43236-1" }, "isoforms": [ { "isoform_ac": "A0A5F9ZHS9-1", "url": "", "sequence": { "sequence": "MYNRVIWWLKDEEIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNN", "length": 211, "header": "tr|A0A5F9ZHS9-1|A0A5F9ZHS9_HUMAN Computationally mapped isoform of Septin 4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58541952, "end_pos": 58525086, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000671766.1", "url": "https://www.ensembl.org/id/ENST00000671766.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000500629.1", "url": "https://www.ensembl.org/id/ENSP00000500629.1" } ] } }, { "isoform_ac": "J3KS26-1", "url": "", "sequence": { "sequence": "MDRSLGWQGNSVPEDRTEAGIKRFLEDTTDDGELSKMTRSMWALQPSPTKSTESP", "length": 55, "header": "tr|J3KS26-1|SEPT4_HUMAN Computationally mapped isoform of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58529174, "end_pos": 58526256, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581615.5", "url": "https://www.ensembl.org/id/ENST00000581615.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462278.1", "url": "https://www.ensembl.org/id/ENSP00000462278.1" } ] } }, { "isoform_ac": "J3KS85-1", "url": "", "sequence": { "sequence": "MIKRFLEDTTDDGELSKMTRSMWALQPSPTKSTESP", "length": 36, "header": "tr|J3KS85-1|SEPT4_HUMAN Computationally mapped isoform of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58531963, "end_pos": 58526256, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000578131.5", "url": "https://www.ensembl.org/id/ENST00000578131.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462362.1", "url": "https://www.ensembl.org/id/ENSP00000462362.1" } ] } }, { "isoform_ac": "J3KSZ7-1", "url": "", "sequence": { "sequence": "MDRSLGWQGNSVPEDRTEAGDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY", "length": 379, "header": "tr|J3KSZ7-1|SEPT4_HUMAN Computationally mapped isoform of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58529174, "end_pos": 58520429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580844.5", "url": "https://www.ensembl.org/id/ENST00000580844.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000462727.1", "url": "https://www.ensembl.org/id/ENSP00000462727.1" } ] } }, { "isoform_ac": "J3QLA8-1", "url": "", "sequence": { "sequence": "MGPVPTSFGKRRGGPQTLPASPGGMIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTE", "length": 225, "header": "tr|J3QLA8-1|SEPT4_HUMAN Computationally mapped isoform of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58531963, "end_pos": 58525080, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583291.1", "url": "https://www.ensembl.org/id/ENST00000583291.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000463461.1", "url": "https://www.ensembl.org/id/ENSP00000463461.1" } ] } }, { "isoform_ac": "J3QLR2-1", "url": "", "sequence": { "sequence": "MGPVPTSFGKRRGGPQTLPASPGGMDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDH", "length": 207, "header": "tr|J3QLR2-1|SEPT4_HUMAN Computationally mapped isoform of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58531963, "end_pos": 58521748, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000577729.5", "url": "https://www.ensembl.org/id/ENST00000577729.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463671.1", "url": "https://www.ensembl.org/id/ENSP00000463671.1" } ] } }, { "isoform_ac": "J3QRS4-1", "url": "", "sequence": { "sequence": "MIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQ", "length": 72, "header": "tr|J3QRS4-1|SEPT4_HUMAN Computationally mapped isoform of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58531482, "end_pos": 58526766, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000581607.1", "url": "https://www.ensembl.org/id/ENST00000581607.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000464360.1", "url": "https://www.ensembl.org/id/ENSP00000464360.1" } ] } }, { "isoform_ac": "J3QRT6-1", "url": "", "sequence": { "sequence": "MDRSLGWQGNSVPEDRTEAGDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRKDRSRN", "length": 332, "header": "tr|J3QRT6-1|J3QRT6_HUMAN Computationally mapped isoform of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58529174, "end_pos": 58520774, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000579371.5", "url": "https://www.ensembl.org/id/ENST00000579371.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464373.1", "url": "https://www.ensembl.org/id/ENSP00000464373.1" } ] } }, { "isoform_ac": "J3QRU3-1", "url": "", "sequence": { "sequence": "MDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGYGPSLRLLAPPGAVKGTGQEHQGQGCH", "length": 175, "header": "tr|J3QRU3-1|SEPT4_HUMAN Computationally mapped isoform of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58531963, "end_pos": 58521885, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000580809.5", "url": "https://www.ensembl.org/id/ENST00000580809.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000464382.1", "url": "https://www.ensembl.org/id/ENSP00000464382.1" } ] } }, { "isoform_ac": "O43236-1", "url": "", "sequence": { "sequence": "MDRSLGWQGNSVPEDRTEAGIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY", "length": 478, "header": "sp|O43236-1|SEPT4_HUMAN Isoform 1 of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58529174, "end_pos": 58520429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000317268.7", "url": "https://www.ensembl.org/id/ENST00000317268.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000321674.3", "url": "https://www.ensembl.org/id/ENSP00000321674.3" } ] } }, { "isoform_ac": "O43236-2", "url": "", "sequence": { "sequence": "MIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY", "length": 459, "header": "sp|O43236-2|SEPT4_HUMAN Isoform 2 of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58527144, "end_pos": 58520429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393086.5", "url": "https://www.ensembl.org/id/ENST00000393086.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000376801.1", "url": "https://www.ensembl.org/id/ENSP00000376801.1" } ] } }, { "isoform_ac": "O43236-3", "url": "", "sequence": { "sequence": "MPGFYSVMTDEEIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY", "length": 470, "header": "sp|O43236-3|SEPT4_HUMAN Isoform 3 of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58540701, "end_pos": 58520429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000412945.7", "url": "https://www.ensembl.org/id/ENST00000412945.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000414779.3", "url": "https://www.ensembl.org/id/ENSP00000414779.3" } ] } }, { "isoform_ac": "O43236-4", "url": "", "sequence": { "sequence": "MRSSPALFSSRAAPQKPRKEGSQAAGLLVFSDSLEIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY", "length": 493, "header": "sp|O43236-4|SEPT4_HUMAN Isoform 4 of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58540673, "end_pos": 58520429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000457347.6", "url": "https://www.ensembl.org/id/ENST00000457347.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000402000.2", "url": "https://www.ensembl.org/id/ENSP00000402000.2" } ] } }, { "isoform_ac": "O43236-5", "url": "", "sequence": { "sequence": "MVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY", "length": 331, "header": "sp|O43236-5|SEPT4_HUMAN Isoform 5 of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58526229, "end_pos": 58520429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000583114.5", "url": "https://www.ensembl.org/id/ENST00000583114.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000463768.1", "url": "https://www.ensembl.org/id/ENSP00000463768.1" } ] } }, { "isoform_ac": "O43236-6", "url": "", "sequence": { "sequence": "MIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGYGPSLRLLAPPGAVKGTGQEHQGQGCH", "length": 274, "header": "sp|O43236-6|SEPT4_HUMAN Isoform 6 of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58531963, "end_pos": 58521885, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426861.5", "url": "https://www.ensembl.org/id/ENST00000426861.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000402348.1", "url": "https://www.ensembl.org/id/ENSP00000402348.1" } ] } }, { "isoform_ac": "O43236-7", "url": "", "sequence": { "sequence": "MVKTNKPGAKVAVSAQRGSEVTTNTSPQQGHGYVLASSHRSAAVSLNPSHRRSEAAHPTTPHSASDYPRSVSLQSGPGHYAVPTPRGPETGPRTESSRHSSPHLKSQKTQTLASHASSRQWKVSPPREEAARRGSESKSGREVGHHASSIPDAKSTHQLSFQDQKNNLQSQILEDDPPSKVQNPQGVRVPRRILSYPKDEAVQTEPIQRITTTSEIRSPRSPSLLEHGSSCVSADYQTAQRRVPVEESETGPYGPIPSKPKALYRNMNLDSLLKLSVLKDSDGVHRVSARVDPESLHKYSAYPETKPSAKVLVSSQVESNVRTPIRGNSEVGRRVTISPGVQSVEPTHHVTVPSVSEGSHKSSMFVTPEPIYKQQTQKPPEITYMSQGPTPRYPELSQKPSIHAELELTPRPLPPRSLPRYGPDSSWWPLLNPEVETPQSQLTTPDFEPKCSPSLDLLLSGFKIDSSPFCEDLKFQREKASLSPPSPPKEFPSWAPLSEVPQTPKHTCKQPIQRFTAFFLDVSEEMYNRVIWWLKDEEIKRFLEDTTDDGELSKFVKDFSGNASCHPPEAKTWASRPQVPEPRPQAPDLYDDDLEFRPPSRPQSSDNQQYFCAPAPLSPSARPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWKPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPPEVDHKKRKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQKQMKENY", "length": 996, "header": "sp|O43236-7|SEPT4_HUMAN Isoform 7 of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58544186, "end_pos": 58520429, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000672673.2", "url": "https://www.ensembl.org/id/ENST00000672673.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000500383.1", "url": "https://www.ensembl.org/id/ENSP00000500383.1" } ] } }, { "isoform_ac": "O43236-8", "url": "", "sequence": { "sequence": "MVKTNKPGAKVAVSAQRGSEVTTNTSPQQGHGYVLASSHRSAAVSLNPSHRRSEAAHPTTPHSASDYPRSVSLQSGPGHYAVPTPRGPETGPRTESSRHSSPHLKSQKTQTLASHASSRQWKVSPPREEAARRGSESKSGREVGHHASSIPDAKSTHQLSFQDQKNNLQSQILEDDPPSKVQNPQGVRVPRRILSYPKDEAVQTEPIQRITTTSEIRSPRSPSLLEHGSSCVSADYQTAQRRVPVEESETGPYGPIPSKPKALYRNMNLDSLLKLSVLKDSDGVHRVSARVDPESLHKYSAYPETKPSAKVLVSSQVESNVRTPIRGNSEVGRRVTISPGVQSVEPTHHVTVPSVSEGSHKSSMFVTPEPIYKQQTQKPPEITYMSQGPTPRYPELSQKPSIHAELELTPRPLPPRSLPRYGPDSSWWPLLNPEVETPQSQLTTPDFEPKCSPSLDLLLSGFKIDSSPFCEDLKFQREKASLSPPSPPKEFPSWAPLSEVPQTPKHTCKQPIQRFTAFFLDVSEEMYNRVIWWLKGLCFSLLWAHCGSLGDGRTGEEWHLCIYRAGSFRR", "length": 570, "header": "sp|O43236-8|SEPT4_HUMAN Isoform 8 of Septin-4 OS=Homo sapiens OX=9606 GN=SEPTIN4 PE=1 SV=1 CANONICAL=O43236-1" }, "locus": { "chromosome": "17", "start_pos": 58544186, "end_pos": 58541818, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000321691.3", "url": "https://www.ensembl.org/id/ENST00000321691.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000354874.2", "url": "https://www.ensembl.org/id/ENSP00000354874.2" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 117, "end_pos": 117, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43236" } ], "site_lbl": "Ser117" }, { "start_pos": 118, "end_pos": 118, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O43236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43236" }, { "database": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" } ], "site_lbl": "Ser118" }, { "start_pos": 325, "end_pos": 325, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" }, { "database": "iPTMnet", "id": "O43236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43236" }, { "database": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ], "site_lbl": "Ser325" }, { "start_pos": 432, "end_pos": 432, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "site_lbl": "Ser432" }, { "start_pos": 434, "end_pos": 434, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "site_lbl": "Thr434" } ], "glycation": [], "keywords": [], "publication": [ { "title": "A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif.", "journal": "Nature cell biology", "date": "2000", "authors": "Larisch S, Yi Y, Lotan R, Kerner H, Eimerl S, Tony Parks W, Gottfried Y, Birkey Reffey S, de Caestecker MP, Danielpour D, Book-Melamed N, Timberg R, Duckett CS, Lechleider RJ, Steller H, Orly J, Kim SJ, Roberts AB", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "11146656", "url": "https://glygen.org/publication/PubMed/11146656" } ] }, { "title": "Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2.", "journal": "Gene", "date": "2000", "authors": "Zieger B, Tran H, Hainmann I, Wunderle D, Zgaga-Griesz A, Blaser S, Ware J", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "11167005", "url": "https://glygen.org/publication/PubMed/11167005" } ] }, { "title": "Characterization of tissue- and cell-type-specific expression of a novel human septin family gene, Bradeion.", "journal": "Biochem. Biophys. Res. Commun.", "date": "2001", "authors": "Tanaka M, Tanaka T, Kijima H, Itoh J, Matsuda T, Hori S, Yamamoto M", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "11511094", "url": "https://glygen.org/publication/PubMed/11511094" } ] }, { "title": "The mitochondrial ARTS protein promotes apoptosis through targeting XIAP.", "journal": "The EMBO journal", "date": "2004", "authors": "Gottfried Y, Rotem A, Lotan R, Steller H, Larisch S", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "15029247", "url": "https://glygen.org/publication/PubMed/15029247" } ] }, { "title": "The novel human platelet septin SEPT8 is an interaction partner of SEPT4.", "journal": "Thromb. Haemost.", "date": "2004", "authors": "Bl\u00e4ser Susanne, Horn Julia, W\u00fcrmell Paul, Bauer Heike, Str\u00fcmpell Sandra, Nurden Paquita, Pagenstecher Axel, Busse Anja, Wunderle Daniela, Hainmann Ina, Zieger Barbara", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "15116257", "url": "https://glygen.org/publication/PubMed/15116257" } ] }, { "title": "Regulation of the proapoptotic ARTS protein by ubiquitin-mediated degradation.", "journal": "The Journal of biological chemistry", "date": "2005-07-08", "authors": "Lotan Rona, Rotem Asaf, Gonen Hedva, Finberg John P M, Kemeny Stav, Steller Hermann, Ciechanover Aaron, Larisch Sarit", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "15837787", "url": "https://glygen.org/publication/PubMed/15837787" } ] }, { "title": "Expression profiling the human septin gene family.", "journal": "J. Pathol.", "date": "2005", "authors": "Hall Peter A, Jung Kenneth, Hillan Kenneth J, Russell S E Hilary", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "15915442", "url": "https://glygen.org/publication/PubMed/15915442" } ] }, { "title": "Sept4, a component of presynaptic scaffold and Lewy bodies, is required for the suppression of alpha-synuclein neurotoxicity.", "journal": "Neuron", "date": "2007", "authors": "Ihara Masafumi, Yamasaki Nobuyuki, Hagiwara Akari, Tanigaki Ai, Kitano Ayumi, Hikawa Rie, Tomimoto Hidekazu, Noda Makoto, Takanashi Masashi, Mori Hideo, Hattori Nobutaka, Miyakawa Tsuyoshi, Kinoshita Makoto", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "17296554", "url": "https://glygen.org/publication/PubMed/17296554" } ] }, { "title": "SEPT9 sequence alternations causing hereditary neuralgic amyotrophy are associated with altered interactions with SEPT4/SEPT11 and resistance to Rho/Rhotekin-signaling.", "journal": "Hum. Mutat.", "date": "2007", "authors": "Sudo K, Ito H, Iwamoto I, Morishita R, Asano T, Nagata K", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "17546647", "url": "https://glygen.org/publication/PubMed/17546647" } ] }, { "title": "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.", "journal": "Proteomics", "date": "2008", "authors": "Han G, Ye M, Zhou H, Jiang X, Feng S, Jiang X, Tian R, Wan D, Zou H, Gu J", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" }, { "database": "iPTMnet", "id": "O43236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43236" } ], "reference": [ { "type": "PubMed", "id": "18318008", "url": "https://glygen.org/publication/PubMed/18318008" } ] }, { "title": "Phosphoproteomic analysis of human brain by calcium phosphate precipitation and mass spectrometry.", "journal": "Journal of proteome research", "date": "2008", "authors": "Xia Q, Cheng D, Duong DM, Gearing M, Lah JJ, Levey AI, Peng J", "evidence": [ { "database": "iPTMnet", "id": "O43236-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43236-1" } ], "reference": [ { "type": "PubMed", "id": "18510355", "url": "https://glygen.org/publication/PubMed/18510355" } ] }, { "title": "Phosphoproteome analysis of human liver tissue by long-gradient nanoflow LC coupled with multiple stage MS analysis.", "journal": "Electrophoresis", "date": "2010", "authors": "Han G, Ye M, Liu H, Song C, Sun D, Wu Y, Jiang X, Chen R, Wang C, Wang L, Zou H", "evidence": [ { "database": "iPTMnet", "id": "O43236-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43236-1" } ], "reference": [ { "type": "PubMed", "id": "20166139", "url": "https://glygen.org/publication/PubMed/20166139" } ] }, { "title": "ARTS binds to a distinct domain in XIAP-BIR3 and promotes apoptosis by a mechanism that is different from other IAP-antagonists.", "journal": "Apoptosis", "date": "2011", "authors": "Bornstein B, Gottfried Y, Edison N, Shekhtman A, Lev T, Glaser F, Larisch S", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "21695558", "url": "https://glygen.org/publication/PubMed/21695558" } ] }, { "title": "Identification of a novel anti-apoptotic E3 ubiquitin ligase that ubiquitinates antagonists of inhibitor of apoptosis proteins SMAC, HtrA2, and ARTS.", "journal": "The Journal of biological chemistry", "date": "2013", "authors": "Kim JB, Kim SY, Kim BM, Lee H, Kim I, Yun J, Jo Y, Oh T, Jo Y, Chae HD, Shin DY", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "23479728", "url": "https://glygen.org/publication/PubMed/23479728" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" }, { "database": "iPTMnet", "id": "O43236", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O43236" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "SEPT12 orchestrates the formation of mammalian sperm annulus by organizing core octomeric complexes with other SEPT proteins.", "journal": "J. Cell Sci.", "date": "2015", "authors": "Kuo YC, Shen YR, Chen HI, Lin YH, Wang YY, Chen YR, Wang CY, Kuo PL", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "25588830", "url": "https://glygen.org/publication/PubMed/25588830" } ] }, { "title": "Degradation of Bcl-2 by XIAP and ARTS Promotes Apoptosis.", "journal": "Cell reports", "date": "2017", "authors": "Edison N, Curtz Y, Paland N, Mamriev D, Chorubczyk N, Haviv-Reingewertz T, Kfir N, Morgenstern D, Kupervaser M, Kagan J, Kim HT, Larisch S", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "29020630", "url": "https://glygen.org/publication/PubMed/29020630" } ] }, { "title": "ARTS mediates apoptosis and regeneration of the intestinal stem cell niche.", "journal": "Nat. Commun.", "date": "2018", "authors": "Koren E, Yosefzon Y, Ankawa R, Soteriou D, Jacob A, Nevelsky A, Ben-Yosef R, Bar-Sela G, Fuchs Y", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "30389919", "url": "https://glygen.org/publication/PubMed/30389919" } ] }, { "title": "p53 induces ARTS to promote mitochondrial apoptosis.", "journal": "Cell death & disease", "date": "2021", "authors": "Hao Q, Chen J, Liao J, Huang Y, Gan Y, Larisch S, Zeng SX, Lu H, Zhou X", "evidence": [ { "database": "RefSeq", "id": "NP_001033793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793" } ], "reference": [ { "type": "PubMed", "id": "33627621", "url": "https://glygen.org/publication/PubMed/33627621" } ] }, { "title": "Biallelic loss-of-function mutations in SEPTIN4 (C17ORF47), encoding a conserved annulus protein, cause thin midpiece spermatozoa and male infertility in humans.", "journal": "Human mutation", "date": "2022-12", "authors": "Wang Guanxiong, Zhu Xiaoyu, Gao Yang, Lv Mingrong, Li Kuokuo, Tang Dongdong, Wu Huan, Xu Chuan, Geng Hao, Shen Qunshan, Zha Xiaomin, Duan Zongliu, Zhang Jingjing, Hua Rong, Tao Fangbiao, Zhou Ping, Wei Zhaolian, Cao Yunxia, Guo Rui, He Xiaojin", "evidence": [ { "database": "RefSeq", "id": "NP_001033793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793" } ], "reference": [ { "type": "PubMed", "id": "36135717", "url": "https://glygen.org/publication/PubMed/36135717" } ] }, { "title": "The ARTS of p53-dependent mitochondrial apoptosis.", "journal": "Journal of molecular cell biology", "date": "2022-12-24", "authors": "Hao Qian, Chen Jiaxiang, Lu Hua, Zhou Xiang", "evidence": [ { "database": "RefSeq", "id": "NP_001033793", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001033793" } ], "reference": [ { "type": "PubMed", "id": "36565718", "url": "https://glygen.org/publication/PubMed/36565718" } ] }, { "title": "Characterization of a novel gene, PNUTL2, on human chromosome 17q22-q23 and its exclusion as the Meckel syndrome gene.", "journal": "Genomics", "date": "1999", "authors": "Paavola P, Horelli-Kuitunen N, Palotie A, Peltonen L", "evidence": [ { "database": "UniProtKB", "id": "O43236", "url": "https://www.uniprot.org/uniprot/O43236" } ], "reference": [ { "type": "PubMed", "id": "9889007", "url": "https://glygen.org/publication/PubMed/9889007" } ] } ], "pathway": [ { "id": "hsa:5414", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5414", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A096MJN4-1", "protein_name": "Septin-4", "gene_name": "Septin4", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MIKHFLEDNSDDAELSKFVKDFPGSEPCHPTESKTRVARPQILEPRPQSPDLCDDDVEFRATLWSQPSDSQQYFCPPAPLSPSSRPRSPWGKLDPYDSSEDDKEYVGFATLPNQVHRKSVKKGFDFTLMVAGESGLGKSTLVNSLFLTDLYRDRKLLGAEERIMQTVEITKHAVDIEEKGVRLRLTIVDTPGFGDAVNNTECWRPVAEYIDQQFEQYFRDESGLNRKNIQDNRVHCCLYFISPFGHGLRPLDVEFMKALHQRVNIVPILAKADTLTPSEVDRKKCKIREEIEHFGIKIYQFPDCDSDEDEDFKLQDQALKESIPFAVIGSNTVVEARGRRVRGRLYPWGIVEVENPGHCDFVKLRTMLVRTHMQDLKDVTRETHYENYRAQCIQSMTRLVVKERNRNKLTRESGTDFPIPAVPPGTDPETEKLIREKDEELRRMQEMLHKIQRQMKETH", "length": 459 }, "evidence": [ { "id": "45921974", "url": "http://www.informatics.jax.org/homology/45921974", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P28661-1", "protein_name": "Septin-4", "gene_name": "Septin4", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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