{ "uniprot_canonical_ac": "O60610-1", "uniprot_ac": "O60610", "uniprot_id": "DIAP1_HUMAN", "mass": { "chemical_mass": 141347.0, "monoisotopic_mass": 141347.0 }, "refseq": { "ac": "NP_001073280", "name": "protein diaphanous homolog 1 isoform 2", "summary": "This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280" }, "gene_names": [ { "name": "DIAPH1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60610", "id": "O60610" }, { "name": "DFNA1; DIA1; DRF1; hDIA1; LFHL1; mDia1; SCBMS", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280", "id": "NP_001073280" }, { "name": "DIAP1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60610", "id": "O60610" }, { "name": "DIAPH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280", "id": "NP_001073280" } ], "protein_names": [ { "name": "Protein diaphanous homolog 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60610" }, { "name": "DRF1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60610" }, { "name": "Diaphanous-related formin-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60610" }, { "name": "protein diaphanous homolog 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280", "id": "NP_001073280" }, { "name": "protein diaphanous homolog 1; mammalian diaphanous related formin 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280", "id": "NP_001073280" } ], "function": [ { "annotation": "Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O60610", "url": "https://www.uniprot.org/uniprot/O60610#function" }, { "database": "PubMed", "id": "20937854", "url": "https://glygen.org/publication/PubMed/20937854" }, { "database": "PubMed", "id": "26912466", "url": "https://glygen.org/publication/PubMed/26912466" }, { "database": "UniProtKB", "id": "O08808", "url": "https://www.uniprot.org/uniprot/O08808#function" }, { "database": "PubMed", "id": "24781755", "url": "https://glygen.org/publication/PubMed/24781755" }, { "database": "PubMed", "id": "21834987", "url": "https://glygen.org/publication/PubMed/21834987" } ] }, { "annotation": "An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280" }, { "database": "PubMed", "id": "37543941", "url": "https://glygen.org/publication/PubMed/37543941" } ] }, { "annotation": "Association between DIAPH1 variant and posterior circulation involvement with Moyamoya disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280" }, { "database": "PubMed", "id": "37400591", "url": "https://glygen.org/publication/PubMed/37400591" } ] }, { "annotation": "DIAPH1-MFN2 interaction regulates mitochondria-SR/ER contact and modulates ischemic/hypoxic stress. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001073280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280" }, { "database": "PubMed", "id": "37903764", "url": "https://glygen.org/publication/PubMed/37903764" } ] }, { "annotation": "Disruption of the productive encounter complex results in dysregulation of DIAPH1 activity.", "evidence": [ { "database": "RefSeq", "id": "NP_001073280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280" }, { "database": "PubMed", "id": "37832872", "url": "https://glygen.org/publication/PubMed/37832872" } ] }, { "annotation": "New insights into RAGE/Diaph1 interaction as a modulator of actin cytoskeleton dynamics in peripheral nervous system in long-term hyperglycaemia. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_001073280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280" }, { "database": "PubMed", "id": "37070486", "url": "https://glygen.org/publication/PubMed/37070486" } ] }, { "annotation": "This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphanous protein in Drosophila and mouse. It has therefore been speculated that this gene may have a role in the regulation of actin polymerization in hair cells of the inner ear. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_001073280", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073280" } ] } ], "disease": [ { "disease_id": "DOID:0050564", "recommended_name": { "id": "DOID:0050564", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050564", "name": "autosomal dominant nonsyndromic deafness", "description": "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode." }, "synonyms": [ { "id": "DOID:0050564", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050564", "name": "autosomal dominant deafness", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant nonsyndromic hearing loss 1", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "Konigsmark syndrome", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "LFHL1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "hereditary low frequency hearing loss 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "DFNA1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "DIAPH1 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant deafness 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant nonsyndromic deafness 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant nonsyndromic deafness type 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "deafness, autosomal dominant 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "deafness, autosomal dominant 1, with or without thrombocytopenia", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "deafness, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "deafness, progressive Low tone", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "hereditary Low frequency hearing loss", "description": "" }, { "id": "MIM:124900", "resource": "MIM", "url": "https://www.omim.org/entry/124900", "name": "Deafness, autosomal dominant 1, with or without thrombocytopenia", "description": "Deafness, autosomal dominant 1, with or without thrombocytopenia" } ], "evidence": [ { "id": "124900", "database": "MIM", "url": "https://www.omim.org/entry/124900" } ] }, { "disease_id": "DOID:0110541", "recommended_name": { "id": "DOID:0110541", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110541", "name": "autosomal dominant nonsyndromic deafness 1", "description": "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31." }, "synonyms": [ { "id": "DOID:0110541", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110541", "name": "DFNA1", "description": "" }, { "id": "DOID:0110541", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110541", "name": "Konigsmark syndrome", "description": "" }, { "id": "DOID:0110541", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110541", "name": "LFHL1", "description": "" }, { "id": "DOID:0110541", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110541", "name": "autosomal dominant deafness 1", "description": "" }, { "id": "DOID:0110541", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110541", "name": "hereditary low frequency hearing loss 1", "description": "" }, { "id": "DOID:0110541", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110541", "name": "autosomal dominant deafness 1, with or without thrombocytopenia", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant nonsyndromic hearing loss 1", "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "Konigsmark syndrome", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "LFHL1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "hereditary low frequency hearing loss 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "DFNA1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "DIAPH1 autosomal dominant nonsyndromic deafness", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant deafness 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant nonsyndromic deafness 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "autosomal dominant nonsyndromic deafness type 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "deafness, autosomal dominant 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "deafness, autosomal dominant 1, with or without thrombocytopenia", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "deafness, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "deafness, progressive Low tone", "description": "" }, { "id": "MONDO:0007424", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007424", "name": "hereditary Low frequency hearing loss", "description": "" }, { "id": "MIM:124900", "resource": "MIM", "url": "https://www.omim.org/entry/124900", "name": "Deafness, autosomal dominant 1, with or without thrombocytopenia", "description": "Deafness, autosomal dominant 1, with or without thrombocytopenia" } ], "evidence": [ { "id": "124900", "database": "MIM", "url": "https://www.omim.org/entry/124900" } ] }, { "disease_id": "MONDO:0014714", "recommended_name": { "id": "MONDO:0014714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014714", "name": "progressive microcephaly-seizures-cortical blindness-developmental delay syndrome", "description": "Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome is a rare, genetic, neuro-ophthalmological syndrome characterized by post-natal, progressive microcephaly and early-onset seizures, associated with delayed global development, bilateral cortical visual impairment and moderate to severe intellectual disability. Additional manifestations include short stature, generalized hypotonia and pulmonary complications, such as recurrent respiratory infections and bronchiectasis. Auditory and metabolic screenings are normal." }, "synonyms": [ { "id": "MONDO:0014714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014714", "name": "SCBMS", "description": "" }, { "id": "MONDO:0014714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014714", "name": "seizures, cortical blindness, microcephaly syndrome", "description": "" }, { "id": "MONDO:0014714", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014714", "name": "seizures, cortical blindness, and microcephaly syndrome", "description": "" }, { "id": "MIM:616632", "resource": "MIM", "url": "https://www.omim.org/entry/616632", "name": "Seizures, cortical blindness, and microcephaly syndrome", "description": "Seizures, cortical blindness, and microcephaly syndrome" } ], "evidence": [ { "id": "616632", "database": "MIM", "url": "https://www.omim.org/entry/616632" } ] } ], "snv": [ { "evidence": [ { "id": "rs1443399410", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1443399410" }, { "id": "rs1443399410", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1443399410" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1077, "end_pos": 1077, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NFP->NFS).", "chr_id": "5", "chr_pos": "141527617", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P1077", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1235751512", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235751512" }, { "id": "rs1235751512", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1235751512" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1090, "end_pos": 1090, "sequence_org": "M", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (MTS->NTS).", "chr_id": "5", "chr_pos": "141527577_141527578i", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1090", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1002153995", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1002153995" }, { "id": "rs1002153995", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1002153995" }, { "id": "rs1002153995", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1002153995#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1194, "end_pos": 1194, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "5", "chr_pos": "141524224", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1194", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749920378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749920378" }, { "id": "rs749920378", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749920378" }, { "id": "rs749920378", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749920378" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1231, "end_pos": 1231, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "5", "chr_pos": "141516978", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S1231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs749920378", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749920378" }, { "id": "rs749920378", "database": "ExAC", "url": 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"Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] }, { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, 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"https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": 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"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", 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"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": 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "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 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"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", 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"length": 1250, "header": "tr|A0A2R8Y5N1-1|A0A2R8Y5N1_HUMAN Computationally mapped isoform of Diaphanous related formin 1 OS=Homo sapiens OX=9606 GN=DIAPH1 PE=1 SV=1 CANONICAL=O60610-1" }, "locus": { "chromosome": "5", "start_pos": 141618914, "end_pos": 141516973, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647433.1", "url": "https://www.ensembl.org/id/ENST00000647433.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494675.1", "url": "https://www.ensembl.org/id/ENSP00000494675.1" } ] } }, { "isoform_ac": "A0A2R8YEF8-1", "url": "", "sequence": { "sequence": "RIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKMESRSVAQAGVLWLDLGSLQAPHPGFMPFSCLSLPSSWDYRHPPPRPVWNQDHVGDRRRNPTAGQSHGSCCSQHDD", "length": 249, "header": "tr|A0A2R8YEF8-1|A0A2R8YEF8_HUMAN Computationally mapped isoform of Diaphanous related formin 1 OS=Homo sapiens OX=9606 GN=DIAPH1 PE=1 SV=1 CANONICAL=O60610-1" }, "locus": { "chromosome": "5", "start_pos": 141587176, "end_pos": 141580798, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647330.1", "url": "https://www.ensembl.org/id/ENST00000647330.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494308.1", "url": "https://www.ensembl.org/id/ENSP00000494308.1" } ] } }, { "isoform_ac": "B4E2I7-1", "url": "", "sequence": { "sequence": "MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDD", "length": 201, "header": "tr|B4E2I7-1|B4E2I7_HUMAN Computationally mapped isoform of cDNA FLJ61549, highly similar to Protein diaphanous homolog 1 OS=Homo sapiens OX=9606 GN=DIAPH1 PE=1 SV=1 CANONICAL=O60610-1" }, "locus": { "chromosome": "5", "start_pos": 141618914, "end_pos": 141580798, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000523100.5", "url": "https://www.ensembl.org/id/ENST00000523100.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428208.1", "url": "https://www.ensembl.org/id/ENSP00000428208.1" } ] } }, { "isoform_ac": "H7C2W8-1", "url": "", "sequence": { "sequence": "MDSLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS", "length": 74, "header": "tr|H7C2W8-1|H7C2W8_HUMAN Computationally mapped isoform of Diaphanous related formin 1 OS=Homo sapiens OX=9606 GN=DIAPH1 PE=1 SV=2 CANONICAL=O60610-1" }, "locus": { "chromosome": "5", "start_pos": 141524209, "end_pos": 141516854, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643312.1", "url": "https://www.ensembl.org/id/ENST00000643312.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495191.1", "url": "https://www.ensembl.org/id/ENSP00000495191.1" } ] } }, { "isoform_ac": "O60610-1", "url": "", "sequence": { "sequence": "MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLDGLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPEPEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMDSLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS", "length": 1272, "header": "sp|O60610-1|DIAP1_HUMAN Isoform 1 of Protein diaphanous homolog 1 OS=Homo sapiens OX=9606 GN=DIAPH1 PE=1 SV=2 CANONICAL=O60610-1" }, "locus": { "chromosome": "5", "start_pos": 141618914, "end_pos": 141516854, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000389054.8", "url": "https://www.ensembl.org/id/ENST00000389054.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000373706.4", "url": "https://www.ensembl.org/id/ENSP00000373706.4" } ] } }, { "isoform_ac": "O60610-2", "url": "", "sequence": { "sequence": "MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFLERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLDGLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPPPPPPPPPPPPPLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPEPEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMDSLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS", "length": 1248, "header": "sp|O60610-2|DIAP1_HUMAN Isoform 2 of Protein diaphanous homolog 1 OS=Homo sapiens OX=9606 GN=DIAPH1 PE=1 SV=2 CANONICAL=O60610-1" }, "locus": {} }, { "isoform_ac": "O60610-3", "url": "", "sequence": { "sequence": "MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFLERFTSMRIKKEKEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIIIKREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWVQTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEGILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLDGLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRVQLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLVRNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAKAAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAEVSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPPAPGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEGVGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPLPGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLRRPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKSVQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPEPEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSVTAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLLHFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAATDEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHNFRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMDSLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTILEEAKELVGRAS", "length": 1263, "header": "sp|O60610-3|DIAP1_HUMAN Isoform 3 of Protein diaphanous homolog 1 OS=Homo sapiens OX=9606 GN=DIAPH1 PE=1 SV=2 CANONICAL=O60610-1" }, "locus": { "chromosome": "5", "start_pos": 141618914, "end_pos": 141516854, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000518047.5", "url": "https://www.ensembl.org/id/ENST00000518047.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000428268.2", "url": "https://www.ensembl.org/id/ENSP00000428268.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1230, "start_aa": "Thr", "end_pos": 1230, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1230", "evidence": [ { "id": "O60610", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60610" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1231, "start_aa": "Ser", "end_pos": 1231, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1231", "evidence": [ { "id": "O60610", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60610" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1235, "start_aa": "Ser", "end_pos": 1235, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1235", "evidence": [ { "id": "O60610", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60610" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 439, "start_aa": "Ser", "end_pos": 439, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser439", "evidence": [ { "id": "O60610", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60610" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 490, "start_aa": "Ser", "end_pos": 490, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser490", "evidence": [ { "id": "O60610", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60610" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "29237092", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29237092" }, { "id": "O60610", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60610" } ] } ], "phosphorylation": [ { "start_pos": 1121, "end_pos": 1121, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "O60610", "url": "https://www.uniprot.org/uniprot/O60610" } ], "site_lbl": "Tyr1121" }, { "start_pos": 1196, "end_pos": 1196, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60610", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60610" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Thr1196" }, { "start_pos": 1201, "end_pos": 1201, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60610", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60610" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser1201" }, { "start_pos": 1251, "end_pos": 1251, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60610", "url": "https://www.uniprot.org/uniprot/O60610" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60610", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60610" } ], "site_lbl": "Ser1251" }, { "start_pos": 1254, "end_pos": 1254, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O60610", "url": "https://www.uniprot.org/uniprot/O60610" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O60610", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60610" } ], "site_lbl": "Ser1254" }, { "start_pos": 1272, "end_pos": 1272, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O60610", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O60610" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser1272" }, { "start_pos": 22, "end_pos": 22, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", 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3-kinase and Rho family GTPases in Vav3-induced cell transformation, cell motility, and morphological changes.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Sachdev P, Zeng L, Wang LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "11884391", "url": "https://glygen.org/publication/PubMed/11884391" } ] }, { "title": "Nucleotide exchange factor GEF-H1 mediates cross-talk between microtubules and the actin cytoskeleton.", "journal": "Nature cell biology", "date": "2002", "authors": "Krendel M, Zenke FT, Bokoch GM", "evidence": [ { "database": "Reactome", "id": "R-HSA-8980692", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8980692" } ], "reference": [ { "type": "PubMed", "id": "11912491", "url": "https://glygen.org/publication/PubMed/11912491" } ] }, { "title": "A mammalian Rho-specific guanine-nucleotide exchange factor 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