{ "uniprot_canonical_ac": "O75030-1", "uniprot_ac": "O75030", "uniprot_id": "MITF_HUMAN", "mass": { "chemical_mass": 58795.0, "monoisotopic_mass": 58795.0 }, "refseq": { "ac": "NP_000239", "name": "microphthalmia-associated transcription factor isoform 4", "summary": "The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239" }, "gene_names": [ { "name": "MITF", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75030", "id": "O75030" }, { "name": "BHLHE32", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75030", "id": "O75030" }, { "name": "MITF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239", "id": "NP_000239" }, { "name": "bHLHe32; CMM8; COMMAD; MI; MITF-A; WS2; WS2A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239", "id": "NP_000239" } ], "protein_names": [ { "name": "Microphthalmia-associated transcription factor", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75030" }, { "name": "Class E basic helix-loop-helix protein 32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75030" }, { "name": "bHLHe32", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75030" }, { "name": "microphthalmia-associated transcription factor isoform 4", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239", "id": "NP_000239" }, { "name": "microphthalmia-associated transcription factor; class E basic helix-loop-helix protein 32; microphtalmia-associated transcription factor; melanogenesis associated transcription factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239", "id": "NP_000239" } ], "function": [ { "annotation": "A novel MITF isoform, MITF-CM, which possesses a unique amino terminus was identified.", "evidence": [ { "database": "RefSeq", "id": "NP_000239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239" }, { "database": "PubMed", "id": "18284417", "url": "https://glygen.org/publication/PubMed/18284417" } ] }, { "annotation": "A novel splice variant of MITF-M,named MITF-Mdel, was id'd and contains two in frame deletions. MITF-Mdel was widely expressed in melanocytes, melanoma cell lines and tissues, but almost undetectable in non-melanoma cell lines or PBMC from healthy donors. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239" }, { "database": "PubMed", "id": "20163701", "url": "https://glygen.org/publication/PubMed/20163701" } ] }, { "annotation": "Acetylation reprograms MITF target selectivity and residence time. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239" }, { "database": "PubMed", "id": "37770430", "url": "https://glygen.org/publication/PubMed/37770430" } ] }, { "annotation": "GREB1 isoform 4 is specifically transcribed by MITF and required for melanoma proliferation.", "evidence": [ { "database": "RefSeq", "id": "NP_000239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239" }, { "database": "PubMed", "id": "37658191", "url": "https://glygen.org/publication/PubMed/37658191" } ] }, { "annotation": "The majority of isoforms were found to be broadly expressed, with the M- and Mc-isoforms being tissue-restricted to melanocytes and mast cells, respectively.", "evidence": [ { "database": "RefSeq", "id": "NP_000239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239" }, { "database": "PubMed", "id": "15715979", "url": "https://glygen.org/publication/PubMed/15715979" } ] }, { "annotation": "The protein encoded by this gene is a transcription factor that contains both basic helix-loop-helix and leucine zipper structural features. The encoded protein regulates melanocyte development and is responsible for pigment cell-specific transcription of the melanogenesis enzyme genes. Heterozygous mutations in the this gene cause auditory-pigmentary syndromes, such as Waardenburg syndrome type 2 and Tietz syndrome. [provided by RefSeq, Aug 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_000239", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000239" } ] }, { "annotation": "Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation (PubMed:36608670). Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity (PubMed:36608670). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium (PubMed:10587587, PubMed:22647378, PubMed:27889061, PubMed:9647758).", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030#function" }, { "database": "PubMed", "id": "9647758", "url": "https://glygen.org/publication/PubMed/9647758" }, { "database": "PubMed", "id": "10587587", "url": "https://glygen.org/publication/PubMed/10587587" }, { "database": "PubMed", "id": "22647378", "url": "https://glygen.org/publication/PubMed/22647378" }, { "database": "PubMed", "id": "27889061", "url": "https://glygen.org/publication/PubMed/27889061" }, { "database": "PubMed", "id": "36608670", "url": "https://glygen.org/publication/PubMed/36608670" } ] } ], "disease": [ { "disease_id": "DOID:0090002", "recommended_name": { "id": "DOID:0090002", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090002", "name": "Tietz syndrome", "description": "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13." }, "synonyms": [ { "id": "DOID:0090002", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090002", "name": "Tietz albinism-deafness syndrome", "description": "" }, { "id": "DOID:0090002", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090002", "name": "albinism-deafness of Tietz", "description": "" }, { "id": "DOID:0090002", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090002", "name": "hypopigmentation/deafness of Tietz", "description": "" }, { "id": "MONDO:0007077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007077", "name": "Tietz syndrome", "description": "Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair." }, { "id": "MONDO:0007077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007077", "name": "Tietz albinism-deafness syndrome", "description": "" }, { "id": "MONDO:0007077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007077", "name": "Tietz syndrome", "description": "" }, { "id": "MONDO:0007077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007077", "name": "albinism-deafness of Tietz", "description": "" }, { "id": "MONDO:0007077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007077", "name": "hypopigmentation-deafness syndrome", "description": "" }, { "id": "MONDO:0007077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007077", "name": "hypopigmentation/deafness of Tietz", "description": "" }, { "id": "MONDO:0007077", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007077", "name": "TADS", "description": "" }, { "id": "MIM:103500", "resource": "MIM", "url": "https://www.omim.org/entry/103500", "name": "Tietz albinism-deafness syndrome", "description": "Tietz albinism-deafness syndrome" } ], "evidence": [ { "id": "103500", "database": "MIM", "url": "https://www.omim.org/entry/103500" } ] }, { "disease_id": "DOID:0110950", "recommended_name": { "id": "DOID:0110950", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110950", "name": "Waardenburg syndrome type 2A", "description": "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13." }, "synonyms": [ { "id": "DOID:0110950", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110950", "name": "WS2A", "description": "" }, { "id": "DOID:0110950", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110950", "name": "Waardenburg syndrome type IIA", "description": "" }, { "id": "MONDO:0008671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008671", "name": "Waardenburg syndrome type 2A", "description": "Waardenburg syndrome Type 2 caused by mutations in the MITF gene." }, { "id": "MONDO:0008671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008671", "name": "MITF Waardenburg syndrome type 2", "description": "" }, { "id": "MONDO:0008671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008671", "name": "WS2A", "description": "" }, { "id": "MONDO:0008671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008671", "name": "Waardenburg syndrome type 2 caused by mutation in MITF", "description": "" }, { "id": "MONDO:0008671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008671", "name": "Waardenburg syndrome type 2A", "description": "" }, { "id": "MONDO:0008671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008671", "name": "Waardenburg syndrome type IIA", "description": "" }, { "id": "MONDO:0008671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008671", "name": "Waardenburg syndrome without dystopia canthorum", "description": "" }, { "id": "MONDO:0008671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008671", "name": "Waardenburg syndrome, type 2A", "description": "" }, { "id": "MONDO:0008671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008671", "name": "Ws2", "description": "" }, { "id": "MIM:193510", "resource": "MIM", "url": "https://www.omim.org/entry/193510", "name": "Waardenburg syndrome 2A", "description": "Waardenburg syndrome 2A" } ], "evidence": [ { "id": "193510", "database": "MIM", "url": "https://www.omim.org/entry/193510" } ] }, { "disease_id": "MONDO:0013759", "recommended_name": { "id": "MONDO:0013759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013759", "name": "melanoma, cutaneous malignant, susceptibility to, 8", "description": "An inherited cancer-predisposing syndrome due to a gain-of-function germline mutation in the MITF gene, associated with a higher incidence of amelanotic and nodular melanoma, multiple primary melanomas and increase in nevus number and size. It may also predispose to co-occurring melanoma and renal cell carcinoma and to pancreatic cancer." }, "synonyms": [ { "id": "MONDO:0013759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013759", "name": "MITF-related melanoma and renal cell carcinoma predisposition syndrome", "description": "" }, { "id": "MONDO:0013759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013759", "name": "melanoma, cutaneous malignant, susceptibility to, 8", "description": "" }, { "id": "MONDO:0013759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013759", "name": "melanoma, cutaneous malignant, susceptibility to, type 8", "description": "" }, { "id": "MONDO:0013759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013759", "name": "CMM8", "description": "" }, { "id": "MONDO:0013759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013759", "name": "melanoma and renal cell carcinoma, susceptibility to", "description": "" }, { "id": "MONDO:0013759", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013759", "name": "susceptibility to cutaneous malignant melanoma 8", "description": "" }, { "id": "MIM:614456", "resource": "MIM", "url": "https://www.omim.org/entry/614456", "name": "Melanoma, cutaneous malignant 8", "description": "Melanoma, cutaneous malignant 8" } ], "evidence": [ { "id": "614456", "database": "MIM", "url": "https://www.omim.org/entry/614456" } ] }, { "disease_id": "MONDO:0015014", "recommended_name": { "id": "MONDO:0015014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015014", "name": "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness", "description": "" }, "synonyms": [ { "id": "MONDO:0015014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015014", "name": "COMMAD", "description": "" }, { "id": "MONDO:0015014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015014", "name": "COMMAD syndrome", "description": "" }, { "id": "MONDO:0015014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015014", "name": "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness", "description": "" }, { "id": "MONDO:0015014", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0015014", "name": "coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness; COMMAD", "description": "" }, { "id": "MIM:617306", "resource": "MIM", "url": "https://www.omim.org/entry/617306", "name": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness", "description": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" } ], "evidence": [ { "id": "617306", "database": "MIM", "url": "https://www.omim.org/entry/617306" } ] } ], "snv": [ { "evidence": [ { "id": "rs1575868909", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1575868909" }, { "id": "rs1575868909", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1575868909" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 105, "end_pos": 105, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->P).", "chr_id": "3", "chr_pos": "69879342", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75030", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75030" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 164, "end_pos": 164, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "S", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NQP->NQS).", "chr_id": "3", "chr_pos": "69937957", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P164", "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", 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "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", 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"resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75030", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75030" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O75030", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75030" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KRZ6", "url": "https://www.uniprot.org/uniprot/A0A8I5KRZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KRZ6-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KRZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KSZ4", "url": "https://www.uniprot.org/uniprot/A0A8I5KSZ4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KSZ4-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KSZ4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KTU3", "url": "https://www.uniprot.org/uniprot/A0A8I5KTU3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I5KTU3-1", "url": "https://www.uniprot.org/uniprot/A0A8I5KTU3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J845", "url": "https://www.uniprot.org/uniprot/C9J845", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9J845-1", "url": "https://www.uniprot.org/uniprot/C9J845-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JBI8", "url": "https://www.uniprot.org/uniprot/C9JBI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9JBI8-1", "url": "https://www.uniprot.org/uniprot/C9JBI8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9K0S7", "url": "https://www.uniprot.org/uniprot/C9K0S7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "C9K0S7-1", "url": "https://www.uniprot.org/uniprot/C9K0S7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PKJ8", "url": "https://www.uniprot.org/uniprot/E9PKJ8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PKJ8-1", "url": "https://www.uniprot.org/uniprot/E9PKJ8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-1", "url": "https://www.uniprot.org/uniprot/O75030-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-10", "url": "https://www.uniprot.org/uniprot/O75030-10", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-11", "url": "https://www.uniprot.org/uniprot/O75030-11", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-12", "url": "https://www.uniprot.org/uniprot/O75030-12", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-2", "url": "https://www.uniprot.org/uniprot/O75030-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-3", "url": "https://www.uniprot.org/uniprot/O75030-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-4", "url": "https://www.uniprot.org/uniprot/O75030-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-5", "url": "https://www.uniprot.org/uniprot/O75030-5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-6", "url": "https://www.uniprot.org/uniprot/O75030-6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-7", "url": "https://www.uniprot.org/uniprot/O75030-7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-8", "url": "https://www.uniprot.org/uniprot/O75030-8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75030-9", "url": "https://www.uniprot.org/uniprot/O75030-9", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 526, "header": "sp|O75030-1|MITF_HUMAN Isoform 1 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "isoforms": [ { "isoform_ac": "A0A087WXU1-1", "url": "", "sequence": { "sequence": "MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEFMKQ", "length": 91, "header": "tr|A0A087WXU1-1|MITF_HUMAN Computationally mapped isoform of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=1 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69938363, "end_pos": 69936723, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394348.2", "url": "https://www.ensembl.org/id/ENST00000394348.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000481286.1", "url": "https://www.ensembl.org/id/ENSP00000481286.1" } ] } }, { "isoform_ac": "A0A8I5KRZ6-1", "url": "", "sequence": { "sequence": "MEALRVQMFMPCSFESLYLSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQIW", "length": 373, "header": "tr|A0A8I5KRZ6-1|A0A8I5KRZ6_HUMAN Computationally mapped isoform of Melanocyte inducing transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=1 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69964919, "end_pos": 69866291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693549.1", "url": "https://www.ensembl.org/id/ENST00000693549.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509358.1", "url": "https://www.ensembl.org/id/ENSP00000509358.1" } ] } }, { "isoform_ac": "A0A8I5KSZ4-1", "url": "", "sequence": { "sequence": "MDWAINFVHLPSCALMASSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 503, "header": "tr|A0A8I5KSZ4-1|A0A8I5KSZ4_HUMAN Computationally mapped isoform of Melanocyte inducing transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=1 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69794463, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000687384.1", "url": "https://www.ensembl.org/id/ENST00000687384.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000510225.1", "url": "https://www.ensembl.org/id/ENSP00000510225.1" } ] } }, { "isoform_ac": "A0A8I5KTU3-1", "url": "", "sequence": { "sequence": "MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 495, "header": "tr|A0A8I5KTU3-1|A0A8I5KTU3_HUMAN Computationally mapped isoform of Melanocyte inducing transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=1 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69739598, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000693031.1", "url": "https://www.ensembl.org/id/ENST00000693031.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000509845.1", "url": "https://www.ensembl.org/id/ENSP00000509845.1" } ] } }, { "isoform_ac": "C9J845-1", "url": "", "sequence": { "sequence": "MTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLY", "length": 157, "header": "tr|C9J845-1|MITF_HUMAN Computationally mapped isoform of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=1 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69949083, "end_pos": 69879186, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000433517.5", "url": "https://www.ensembl.org/id/ENST00000433517.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000411389.1", "url": "https://www.ensembl.org/id/ENSP00000411389.1" } ] } }, { "isoform_ac": "C9JBI8-1", "url": "", "sequence": { "sequence": "MEALRVQMFMPCSFESLYLSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENR", "length": 361, "header": "tr|C9JBI8-1|C9JBI8_HUMAN Computationally mapped isoform of Melanocyte inducing transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=1 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69959372, "end_pos": 69866291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000451708.5", "url": "https://www.ensembl.org/id/ENST00000451708.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000398639.1", "url": "https://www.ensembl.org/id/ENSP00000398639.1" } ] } }, { "isoform_ac": "C9K0S7-1", "url": "", "sequence": { "sequence": "MTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTH", "length": 70, "header": "tr|C9K0S7-1|C9K0S7_HUMAN Computationally mapped isoform of Melanocyte inducing transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=8 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69937833, "end_pos": 69879186, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000429090.5", "url": "https://www.ensembl.org/id/ENST00000429090.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000407620.1", "url": "https://www.ensembl.org/id/ENSP00000407620.1" } ] } }, { "isoform_ac": "E9PKJ8-1", "url": "", "sequence": { "sequence": "MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPDG", "length": 105, "header": "tr|E9PKJ8-1|E9PKJ8_HUMAN Computationally mapped isoform of Melanocyte inducing transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=1 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69941240, "end_pos": 69936723, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000478490.5", "url": "https://www.ensembl.org/id/ENST00000478490.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000433487.1", "url": "https://www.ensembl.org/id/ENSP00000433487.1" } ] } }, { "isoform_ac": "O75030-1", "url": "", "sequence": { "sequence": "MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 526, "header": "sp|O75030-1|MITF_HUMAN Isoform 1 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69739598, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000352241.9", "url": "https://www.ensembl.org/id/ENST00000352241.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000295600.8", "url": "https://www.ensembl.org/id/ENSP00000295600.8" } ] } }, { "isoform_ac": "O75030-10", "url": "", "sequence": { "sequence": "MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 413, "header": "sp|O75030-10|MITF_HUMAN Isoform 10 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69936723, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000314557.10", "url": "https://www.ensembl.org/id/ENST00000314557.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000324246.6", "url": "https://www.ensembl.org/id/ENSP00000324246.6" } ] } }, { "isoform_ac": "O75030-11", "url": "", "sequence": { "sequence": "MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 357, "header": "sp|O75030-11|MITF_HUMAN Isoform 11 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69936723, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531774.1", "url": "https://www.ensembl.org/id/ENST00000531774.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435909.1", "url": "https://www.ensembl.org/id/ENSP00000435909.1" } ] } }, { "isoform_ac": "O75030-12", "url": "", "sequence": { "sequence": "MTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 468, "header": "sp|O75030-12|MITF_HUMAN Isoform 12 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69879186, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000472437.5", "url": "https://www.ensembl.org/id/ENST00000472437.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000418845.1", "url": "https://www.ensembl.org/id/ENSP00000418845.1" } ] } }, { "isoform_ac": "O75030-2", "url": "", "sequence": { "sequence": "MQSESGIVPDFEVGEEFHEEPKTYYELKSQPLKSSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 520, "header": "sp|O75030-2|MITF_HUMAN Isoform 2 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69739598, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642352.1", "url": "https://www.ensembl.org/id/ENST00000642352.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494105.1", "url": "https://www.ensembl.org/id/ENSP00000494105.1" } ] } }, { "isoform_ac": "O75030-3", "url": "", "sequence": { "sequence": "MLYAFWFSHSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 501, "header": "sp|O75030-3|MITF_HUMAN Isoform 3 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": {} }, { "isoform_ac": "O75030-4", "url": "", "sequence": { "sequence": "MLYAFWFSHSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 495, "header": "sp|O75030-4|MITF_HUMAN Isoform 4 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": {} }, { "isoform_ac": "O75030-5", "url": "", "sequence": { "sequence": "MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSRSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 525, "header": "sp|O75030-5|MITF_HUMAN Isoform 5 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": {} }, { "isoform_ac": "O75030-6", "url": "", "sequence": { "sequence": "MGHLENTSVVFPRAIFSLCEKETRKLTLCLFSRSSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 519, "header": "sp|O75030-6|MITF_HUMAN Isoform 6 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69763842, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000448226.9", "url": "https://www.ensembl.org/id/ENST00000448226.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000391803.3", "url": "https://www.ensembl.org/id/ENSP00000391803.3" } ] } }, { "isoform_ac": "O75030-7", "url": "", "sequence": { "sequence": "MEALRVQMFMPCSFESLYLSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 510, "header": "sp|O75030-7|MITF_HUMAN Isoform 7 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": {} }, { "isoform_ac": "O75030-8", "url": "", "sequence": { "sequence": "MEALRVQMFMPCSFESLYLSSAEHPGASKPPISSSSMTSRILLRQQLMREQMQEQERREQQQKLQAAQFMQQRVPVSQTPAINVSVPTTLPSATQVPMEVLKVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 504, "header": "sp|O75030-8|MITF_HUMAN Isoform 8 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69866291, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000314589.11", "url": "https://www.ensembl.org/id/ENST00000314589.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000324443.5", "url": "https://www.ensembl.org/id/ENSP00000324443.5" } ] } }, { "isoform_ac": "O75030-9", "url": "", "sequence": { "sequence": "MLEMLEYNHYQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSVPTKMGSKLEDILMDDTLSPVGVTDPLLSSVSPGASKTSSRRSSMSMEETEHTC", "length": 419, "header": "sp|O75030-9|MITF_HUMAN Isoform 9 of Microphthalmia-associated transcription factor OS=Homo sapiens OX=9606 GN=MITF PE=1 SV=2 CANONICAL=O75030-1" }, "locus": { "chromosome": "3", "start_pos": 69965245, "end_pos": 69936723, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000394351.9", "url": "https://www.ensembl.org/id/ENST00000394351.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000377880.3", "url": "https://www.ensembl.org/id/ENSP00000377880.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 101, "start_aa": "Ser", "end_pos": 101, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser101", "evidence": [ { "id": "O75030", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75030" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O75030", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75030" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 104, "start_aa": "Thr", "end_pos": 104, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr104", "evidence": [ { "id": "O75030", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75030" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 105, "start_aa": "Thr", "end_pos": 105, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr105", "evidence": [ { "id": "O75030", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75030" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "O75030", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75030" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 121, "start_aa": "Thr", "end_pos": 121, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr121", "evidence": [ { "id": "O75030", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75030" }, { "id": "35132862", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35132862" }, { "id": "37340703", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37340703" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "30620550", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30620550" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 180, "end_pos": 180, "kinase_uniprot_canonical_ac": "P28482-1", "kinase_gene_name": "MAPK1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" }, { "database": "PubMed", "id": "10673502", "url": "https://glygen.org/publication/PubMed/10673502" } ], "site_lbl": "Ser180" }, { "start_pos": 180, "end_pos": 180, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MAPK", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" }, { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" }, { "database": "PubMed", "id": "10673502", "url": "https://glygen.org/publication/PubMed/10673502" } ], "site_lbl": "Ser180" }, { "start_pos": 280, "end_pos": 280, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by MARK3", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" }, { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" }, { "database": "PubMed", "id": "36608670", "url": "https://glygen.org/publication/PubMed/36608670" } ], "site_lbl": "Ser280" }, { "start_pos": 301, "end_pos": 301, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" }, { "database": "PubMed", "id": "22046555", "url": "https://glygen.org/publication/PubMed/22046555" } ], "site_lbl": "Ser301" }, { "start_pos": 405, "end_pos": 405, "kinase_uniprot_canonical_ac": "P49840-1", "kinase_gene_name": "GSK3A", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" }, { "database": "PubMed", "id": "10587587", "url": "https://glygen.org/publication/PubMed/10587587" } ], "site_lbl": "Ser405" }, { "start_pos": 405, "end_pos": 405, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by GSK3", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" }, { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" }, { "database": "PubMed", "id": "10587587", "url": "https://glygen.org/publication/PubMed/10587587" } ], "site_lbl": "Ser405" }, { "start_pos": 409, "end_pos": 409, "kinase_uniprot_canonical_ac": "Q15418-1", "kinase_gene_name": "RPS6KA1", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" }, { "database": "PubMed", "id": "10673502", "url": "https://glygen.org/publication/PubMed/10673502" }, { "database": "PubMed", "id": "21749389", "url": "https://glygen.org/publication/PubMed/21749389" } ], "site_lbl": "Ser409" }, { "start_pos": 409, "end_pos": 409, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" }, { "database": "PubMed", "id": "14645519", "url": "https://glygen.org/publication/PubMed/14645519" } ], "site_lbl": "Ser409" }, { "start_pos": 414, "end_pos": 414, "kinase_uniprot_canonical_ac": "Q16539-1", "kinase_gene_name": "MAPK14", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" }, { "database": "PubMed", "id": "11792706", "url": "https://glygen.org/publication/PubMed/11792706" } ], "site_lbl": "Ser414" }, { "start_pos": 414, "end_pos": 414, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "phospho.ELM", "id": "O75030", "url": "http://phospho.elm.eu.org/byAccession/O75030.html" }, { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" } ], "site_lbl": "Ser414" }, { "start_pos": 491, "end_pos": 491, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", 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Biochem.", "date": "1999", "authors": "Fuse N, Yasumoto K i, Takeda K, Amae S, Yoshizawa M, Udono T, Takahashi K, Tamai M, Tomita Y, Tachibana M, Shibahara S", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "reference": [ { "type": "PubMed", "id": "10578055", "url": "https://glygen.org/publication/PubMed/10578055" } ] }, { "title": "Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance.", "journal": "Human molecular genetics", "date": "2000", "authors": "Takeda K, Takemoto C, Kobayashi I, Watanabe A, Nobukuni Y, Fisher DE, Tachibana M", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" }, { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" } ], "reference": [ { "type": "PubMed", "id": "10587587", "url": "https://glygen.org/publication/PubMed/10587587" } ] }, { "title": "c-Kit triggers dual phosphorylations, which couple activation and degradation of the essential melanocyte factor Mi.", "journal": "Genes & development", "date": "2000", "authors": "Wu M, Hemesath TJ, Takemoto CM, Horstmann MA, Wells AG, Price ER, Fisher DZ, Fisher DE", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" }, { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" } ], "reference": [ { "type": "PubMed", "id": "10673502", "url": "https://glygen.org/publication/PubMed/10673502" } ] }, { "title": "Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters.", "journal": "Biochim. Biophys. Acta", "date": "2000", "authors": "Udono T, Yasumoto K, Takeda K, Amae S, Watanabe K, Saito H, Fuse N, Tachibana M, Takahashi K, Tamai M, Shibahara S", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "reference": [ { "type": "PubMed", "id": "10760582", "url": "https://glygen.org/publication/PubMed/10760582" } ] }, { "title": "Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF.", "journal": "Journal of medical genetics", "date": "2000", "authors": "Smith SD, Kelley PM, Kenyon JB, Hoover D", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "reference": [ { "type": "PubMed", "id": "10851256", "url": "https://glygen.org/publication/PubMed/10851256" } ] }, { "title": "Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.", "journal": "Genome Res.", "date": "2001", "authors": "Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Bocher M, Blocker H, Bauersachs S, Blum H, Lauber J, Dusterhoft A, Beyer A, Kohrer K, Strack N, Mewes HW, Ottenwalder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "reference": [ { "type": "PubMed", "id": "11230166", "url": "https://glygen.org/publication/PubMed/11230166" } ] }, { "title": "Microphthalmia transcription factor is a target of the p38 MAPK pathway in response to receptor activator of NF-kappa B ligand signaling.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Mansky KC, Sankar U, Han J, Ostrowski MC", "evidence": [ { "database": "iPTMnet", "id": "O75030", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75030" } ], "reference": [ { "type": "PubMed", "id": "11792706", "url": "https://glygen.org/publication/PubMed/11792706" } ] 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activity in FcepsilonRI-activated mast cells.", "journal": "Immunity", "date": "2004", "authors": "Lee Yu-Nee, Nechushtan Hovav, Figov Navah, Razin Ehud", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "reference": [ { "type": "PubMed", "id": "14975237", "url": "https://glygen.org/publication/PubMed/14975237" } ] }, { "title": "Complexity of translationally controlled transcription factor Sp3 isoform expression.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Sapetschnig A, Koch F, Rischitor G, Mennenga T, Suske G", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "15247228", "url": "https://glygen.org/publication/PubMed/15247228" } ] }, { "title": "Sumoylation of internally initiated Sp3 isoforms regulates transcriptional repression via a Trichostatin A-insensitive mechanism.", "journal": "Cellular signalling", "date": "2005", "authors": "Spengler ML, Kennett SB, Moorefield KS, Simmons SO, Brattain MG, Horowitz JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "15494207", "url": "https://glygen.org/publication/PubMed/15494207" } ] }, { "title": "Sumoylation of MITF and its related family members TFE3 and TFEB.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Miller AJ, Levy C, Davis IJ, Razin E, Fisher DE", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" }, { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "15507434", "url": "https://glygen.org/publication/PubMed/15507434" } ] }, { "title": "Genomic analysis of the 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"date": "2006-09", "authors": "Bronisz Agnieszka, Sharma Sudarshana M, Hu Rong, Godlewski Jakub, Tzivion Guri, Mansky Kim C, Ostrowski Michael C", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "reference": [ { "type": "PubMed", "id": "16822840", "url": "https://glygen.org/publication/PubMed/16822840" } ] }, { "title": "An acetylation/deacetylation-SUMOylation switch through a phylogenetically conserved psiKXEP motif in the tumor suppressor HIC1 regulates transcriptional repression activity.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "Stankovic-Valentin N, Deltour S, Seeler J, Pinte S, Vergoten G, Guerardel C, Dejean A, Leprince D", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "17283066", "url": "https://glygen.org/publication/PubMed/17283066" } ] }, { "title": 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"Kuo FT, Bentsi-Barnes IK, Barlow GM, Bae J, Pisarska MD", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "19744555", "url": "https://glygen.org/publication/PubMed/19744555" } ] }, { "title": "Mammalian SUMO E3-ligases PIAS1 and PIAS4 promote responses to DNA double-strand breaks.", "journal": "Nature", "date": "2009", "authors": "Galanty Y, Belotserkovskaya R, Coates J, Polo S, Miller KM, Jackson SP", "evidence": [ { "database": "Reactome", "id": "R-HSA-3232118", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118" } ], "reference": [ { "type": "PubMed", "id": "20016603", "url": "https://glygen.org/publication/PubMed/20016603" } ] }, { "title": "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.", "journal": "Science signaling", "date": "2010", "authors": "Olsen JV, Vermeulen M, Santamaria A, Kumar 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epithelium.", "journal": "Biochemical and biophysical research communications", "date": "1998-06-29", "authors": "Amae S, Fuse N, Yasumoto K, Sato S, Yajima I, Yamamoto H, Udono T, Durlu Y K, Tamai M, Takahashi K, Shibahara S", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "reference": [ { "type": "PubMed", "id": "9647758", "url": "https://glygen.org/publication/PubMed/9647758" } ] } ], "pathway": [ { "id": "R-HSA-3232118", "name": "SUMOylation of transcription factors", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3232118", "resource": "Reactome", "description": "SUMOylation of transcription factors" } ], "orthologs": [ { "uniprot_canonical_ac": "O88368-1", "protein_name": "Microphthalmia-associated transcription factor", "gene_name": "Mitf", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": 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"evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "chromatin binding", "id": "GO:0003682", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003682", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "DNA-binding transcription repressor activity, RNA polymerase II-specific", "id": "GO:0001227", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001227", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "RNA polymerase II cis-regulatory region sequence-specific DNA binding", "id": "GO:0000978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000978", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "DNA-binding transcription factor activity, RNA polymerase II-specific", "id": "GO:0000981", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000981", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "DNA-binding transcription activator activity, RNA polymerase II-specific", "id": "GO:0001228", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001228", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "E-box binding", "id": "GO:0070888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070888", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 20, "go_terms": [ { "name": "osteoclast differentiation", "id": "GO:0030316", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030316", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "regulation of RNA biosynthetic process", "id": "GO:2001141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2001141", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "melanocyte apoptotic process", "id": "GO:1902362", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1902362", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "negative regulation of transcription by RNA polymerase II", "id": "GO:0000122", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000122", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "regulation of transcription by RNA polymerase II", "id": "GO:0006357", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006357", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "positive regulation of gene expression", "id": "GO:0010628", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010628", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "regulation of cell population proliferation", "id": "GO:0042127", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042127", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "negative regulation of apoptotic process", "id": "GO:0043066", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043066", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "positive regulation of transcription by RNA polymerase II", "id": "GO:0045944", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045944", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "regulation of DNA-templated transcription", "id": "GO:0006355", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006355", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "negative regulation of cell migration", "id": "GO:0030336", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030336", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription", "id": "GO:0045893", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045893", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "bone remodeling", "id": "GO:0046849", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046849", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "Wnt signaling pathway", "id": "GO:0016055", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016055", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "regulation of osteoclast differentiation", "id": "GO:0045670", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045670", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "melanocyte differentiation", "id": "GO:0030318", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030318", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "camera-type eye development", "id": "GO:0043010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043010", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "positive regulation of DNA-templated transcription initiation", "id": "GO:2000144", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000144", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "cell fate commitment", "id": "GO:0045165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045165", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "protein-containing complex assembly", "id": "GO:0065003", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0065003", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 6, "go_terms": [ { "name": "nucleus", "id": "GO:0005634", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "lysosomal membrane", "id": "GO:0005765", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005765", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "chromatin", "id": "GO:0000785", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000785", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" }, { "name": "protein-containing complex", "id": "GO:0032991", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032991", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 430, "end_pos": 432, "annotation": "n_glycosylation_sequon" }, { "start_pos": 99, "end_pos": 101, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "Ubiquitinated by the SCF(BTRC) and SCF(FBXW11) complexes following phosphorylation ar Ser-5 by MTOR, leading to its degradation by the proteasome (PubMed:36608670). Ubiquitinated following phosphorylation at Ser-180, leading to subsequent degradation by the proteasome (PubMed:10673502). Deubiquitinated by USP13, preventing its degradation (PubMed:10673502).", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" }, { "database": "PubMed", "id": "10673502", "url": "https://glygen.org/publication/PubMed/10673502" }, { "database": "PubMed", "id": "36608670", "url": "https://glygen.org/publication/PubMed/36608670" } ] }, { "annotation": "When nutrients are present, phosphorylation by MTOR at Ser-5 via non-canonical mTORC1 pathway promotes ubiquitination by the SCF(BTRC) complex, followed by degradation (PubMed:36608670). Phosphorylation at Ser-405 significantly enhances the ability to bind the tyrosinase promoter (PubMed:10587587). Phosphorylation by MARK3/cTAK1 at Ser-280 promotes association with 14-3-3/YWHA adapters and retention in the cytosol (PubMed:16822840). Phosphorylated at Ser-180 and Ser-516 following KIT signaling, triggering a short live activation: Phosphorylation at Ser-180 and Ser-516 by MAPK and RPS6KA1, respectively, activate the transcription factor activity but also promote ubiquitination and subsequent degradation by the proteasome (PubMed:10673502). Phosphorylated in response to blue light (415nm) (PubMed:28842328).", "evidence": [ { "database": "UniProtKB", "id": "O75030", "url": "https://www.uniprot.org/uniprot/O75030" }, { "database": "PubMed", "id": "10587587", "url": "https://glygen.org/publication/PubMed/10587587" }, { "database": "PubMed", "id": "10673502", "url": "https://glygen.org/publication/PubMed/10673502" }, { "database": "PubMed", "id": "28842328", "url": "https://glygen.org/publication/PubMed/28842328" }, { "database": "PubMed", "id": "16822840", "url": "https://glygen.org/publication/PubMed/16822840" }, { "database": "PubMed", "id": "36608670", "url": "https://glygen.org/publication/PubMed/36608670" } ] } ], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 101, 104, 105, 121 ], "snv_sites": [ 35, 50, 105, 164, 190, 205, 269, 278, 286, 317, 421, 449, 460, 463 ], "glycation_sites": [], "phosphorylation_sites": [ 5, 180, 280, 301, 405, 409, 414, 491, 516 ], "sequon_annotation_sites": [ { "start_pos": 430, "end_pos": 432 }, { "start_pos": 99, "end_pos": 101 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 13 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 15 }, { "field": "total_sites", "count": 14 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 9 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl", "subjects_tested", "subjects_positive", "frequency" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 66 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }