{ "uniprot_canonical_ac": "O75444-2", "uniprot_ac": "O75444", "uniprot_id": "MAF_HUMAN", "mass": { "chemical_mass": 38492.0, "monoisotopic_mass": 38492.0 }, "refseq": { "ac": "NP_001026974", "name": "transcription factor Maf isoform b", "summary": "The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974" }, "gene_names": [ { "name": "MAF", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75444", "id": "O75444" }, { "name": "AYGRP; c-MAF; CCA4; CTRCT21", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974", "id": "NP_001026974" }, { "name": "MAF", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974", "id": "NP_001026974" } ], "protein_names": [ { "name": "Transcription factor Maf", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75444" }, { "name": "Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene; transcription factor Maf; T lymphocyte c-maf long form; c-maf proto-oncogene; proto-oncogene c-Maf; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974", "id": "NP_001026974" }, { "name": "Proto-oncogene c-Maf", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75444" }, { "name": "V-maf musculoaponeurotic fibrosarcoma oncogene homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O75444" }, { "name": "transcription factor Maf isoform b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974", "id": "NP_001026974" } ], "function": [ { "annotation": "Acts as a transcriptional activator or repressor. Involved in embryonic lens fiber cell development. Recruits the transcriptional coactivators CREBBP and/or EP300 to crystallin promoters leading to up-regulation of crystallin gene during lens fiber cell differentiation. Activates the expression of IL4 in T helper 2 (Th2) cells. Increases T-cell susceptibility to apoptosis by interacting with MYB and decreasing BCL2 expression. Together with PAX6, transactivates strongly the glucagon gene promoter through the G1 element. Activates transcription of the CD13 proximal promoter in endothelial cells. Represses transcription of the CD13 promoter in early stages of myelopoiesis by affecting the ETS1 and MYB cooperative interaction. Involved in the initial chondrocyte terminal differentiation and the disappearance of hypertrophic chondrocytes during endochondral bone development. Binds to the sequence 5'-[GT]G[GC]N[GT]NCTCAGNN-3' in the L7 promoter. Binds to the T-MARE (Maf response element) sites of lens-specific alpha- and beta-crystallin gene promoters. Binds element G1 on the glucagon promoter. Binds an AT-rich region adjacent to the TGC motif (atypical Maf response element) in the CD13 proximal promoter in endothelial cells (By similarity). When overexpressed, represses anti-oxidant response element (ARE)-mediated transcription. Involved either as an oncogene or as a tumor suppressor, depending on the cell context. Binds to the ARE sites of detoxifying enzyme gene promoters.", "evidence": [ { "database": "UniProtKB", "id": "O75444", "url": "https://www.uniprot.org/uniprot/O75444#function" }, { "database": "PubMed", "id": "12149651", "url": "https://glygen.org/publication/PubMed/12149651" }, { "database": "PubMed", "id": "16247450", "url": "https://glygen.org/publication/PubMed/16247450" }, { "database": "PubMed", "id": "19143053", "url": "https://glygen.org/publication/PubMed/19143053" }, { "database": "PubMed", "id": "15007382", "url": "https://glygen.org/publication/PubMed/15007382" }, { "database": "PubMed", "id": "14998494", "url": "https://glygen.org/publication/PubMed/14998494" } ] }, { "annotation": "C-Maf enforces cytokine production and promotes memory-like responses in mouse and human type 2 innate lymphoid cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001026974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974" }, { "database": "PubMed", "id": "35467036", "url": "https://glygen.org/publication/PubMed/35467036" } ] }, { "annotation": "C-Maf: The magic wand that turns on LSEC fate.", "evidence": [ { "database": "RefSeq", "id": "NP_001026974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974" }, { "database": "PubMed", "id": "35395181", "url": "https://glygen.org/publication/PubMed/35395181" } ] }, { "annotation": "Differential metabolic requirement governed by transcription factor c-Maf dictates innate gammadeltaT17 effector functionality in mice and humans.", "evidence": [ { "database": "RefSeq", "id": "NP_001026974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974" }, { "database": "PubMed", "id": "35613277", "url": "https://glygen.org/publication/PubMed/35613277" } ] }, { "annotation": "Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_001026974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974" }, { "database": "PubMed", "id": "36719481", "url": "https://glygen.org/publication/PubMed/36719481" } ] }, { "annotation": "The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001026974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974" } ] }, { "annotation": "Transcription Factor c-Maf Promotes Immunoregulation of Programmed Cell Death 1-Expressed CD8(+) T Cells in Multiple Sclerosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001026974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974" }, { "database": "PubMed", "id": "35383094", "url": "https://glygen.org/publication/PubMed/35383094" } ] } ], "disease": [ { "disease_id": "DOID:0110256", "recommended_name": { "id": "DOID:0110256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110256", "name": "cataract 21 multiple types", "description": "A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23." }, "synonyms": [ { "id": "DOID:0110256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110256", "name": "CTRCT21", "description": "" }, { "id": "DOID:0110256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110256", "name": "cataract 21 multiple types with or without microcornea", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "cataract 21 multiple types", "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the MAF gene." }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "CTRCT21", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "MAF early-onset non-syndromic cataract", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "cataract 21 multiple types with or without microcornea", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "early-onset non-syndromic cataract caused by mutation in MAF", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "CCA4", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "congenital cataract cerulean type 4", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "cataract 21, multiple types", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "cataract 21, multiple types, with or without microcornea", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "cataract, congenital, cerulean type, 4", "description": "" }, { "id": "MONDO:0012437", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012437", "name": "cataract, pulverulent, juvenile-onset", "description": "" }, { "id": "MIM:610202", "resource": "MIM", "url": "https://www.omim.org/entry/610202", "name": "Cataract 21, multiple types", "description": "Cataract 21, multiple types" } ], "evidence": [ { "id": "610202", "database": "MIM", "url": "https://www.omim.org/entry/610202" } ] }, { "disease_id": "DOID:0111688", "recommended_name": { "id": "DOID:0111688", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111688", "name": "Ayme-Gripp syndrome", "description": "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2." }, "synonyms": [ { "id": "DOID:0111688", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111688", "name": "AYGRP", "description": "" }, { "id": "DOID:0111688", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111688", "name": "cataracts, congenital, with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation", "description": "" }, { "id": "MONDO:0010992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010992", "name": "Ayme-Gripp syndrome", "description": "" }, { "id": "MONDO:0010992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010992", "name": "Ayme-Gripp syndrome", "description": "" }, { "id": "MONDO:0010992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010992", "name": "AYGRP", "description": "" }, { "id": "MONDO:0010992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010992", "name": "AYME-Gripp syndrome", "description": "" }, { "id": "MONDO:0010992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010992", "name": "Aym-Gripp syndrome", "description": "" }, { "id": "MONDO:0010992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010992", "name": "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and intellectual disability", "description": "" }, { "id": "MONDO:0010992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010992", "name": "cataracts, congenital, with sensorineural deafness, Down syndrome-like Facial appearance, short stature, and mental retardation", "description": "" }, { "id": "MIM:601088", "resource": "MIM", "url": "https://www.omim.org/entry/601088", "name": "Ayme-Gripp syndrome", "description": "Ayme-Gripp syndrome" } ], "evidence": [ { "id": "601088", "database": "MIM", "url": "https://www.omim.org/entry/601088" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "94.38", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.48", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.37", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "84.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "93.87", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "84.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "82.45", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "90.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "89.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "90.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "88.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "86.74", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.82", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178573" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O75444", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75444" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { 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"" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O75444", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75444" } ], "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": 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"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", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"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", 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75444", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75444" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75444" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR024874", "url": "https://www.ebi.ac.uk/interpro/entry/IPR024874", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046347", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046347", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:4094", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4094", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "177075", "url": "http://www.omim.org/entry/177075", "database": "MIM", "categories": [ "Other" ] }, { "id": "601088", "url": "http://www.omim.org/entry/601088", "database": "MIM", "categories": [ "Other" ] }, { "id": "610202", "url": "http://www.omim.org/entry/610202", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O75444", "url": "https://www.nextprot.org/entry/NX_O75444", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "SMPGEEM", "url": "https://omabrowser.org/oma/group/SMPGEEM/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5399309at2759", "url": "http://www.orthodb.org/?query=5399309at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR10129", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10129", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR10129:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10129:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03131", "url": "http://pfam.xfam.org/family/PF03131", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF08383", "url": "http://pfam.xfam.org/family/PF08383", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O75444", "url": "https://pharos.nih.gov/targets/O75444", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O75444", "url": "http://purl.obolibrary.org/obo/PR_O75444", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001026974", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001026974", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O75444", "url": "https://www.uniprot.org/uniprot/O75444", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75444-1", "url": "https://www.uniprot.org/uniprot/O75444-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O75444-2", "url": "https://www.uniprot.org/uniprot/O75444-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGSGSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPAAAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAAGAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFM", "length": 373, "header": "sp|O75444-2|MAF_HUMAN Isoform 2 of Transcription factor Maf OS=Homo sapiens OX=9606 GN=MAF PE=1 SV=2 CANONICAL=O75444-2" }, "isoforms": [ { "isoform_ac": "O75444-1", "url": "", "sequence": { "sequence": "MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGSGSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPAAAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAAGAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFITEPTRKLEPSVGYATFWKPQHRVLTSVFTK", "length": 403, "header": "sp|O75444-1|MAF_HUMAN Isoform 1 of Transcription factor Maf OS=Homo sapiens OX=9606 GN=MAF PE=1 SV=2 CANONICAL=O75444-2" }, "locus": { "chromosome": "16", "start_pos": 79599902, "end_pos": 79594463, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000326043.5", "url": "https://www.ensembl.org/id/ENST00000326043.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000327048.4", "url": "https://www.ensembl.org/id/ENSP00000327048.4" } ] } }, { "isoform_ac": "O75444-2", "url": "", "sequence": { "sequence": "MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTPCSSVPPSPSFSAPSPGSGSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPAAAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAAGAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEKNQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFM", "length": 373, "header": "sp|O75444-2|MAF_HUMAN Isoform 2 of Transcription factor Maf OS=Homo sapiens OX=9606 GN=MAF PE=1 SV=2 CANONICAL=O75444-2" }, "locus": { "chromosome": "16", "start_pos": 79599902, "end_pos": 79598784, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000393350.1", "url": "https://www.ensembl.org/id/ENST00000393350.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000377019.1", "url": "https://www.ensembl.org/id/ENSP00000377019.1" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 131, "end_pos": 131, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75444", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75444" }, { "database": "PubMed", "id": "25993510", "url": "https://glygen.org/publication/PubMed/25993510" } ], "site_lbl": "Tyr131" }, { "start_pos": 21, "end_pos": 21, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75444", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75444" }, { "database": "PubMed", "id": "25993510", "url": "https://glygen.org/publication/PubMed/25993510" } ], "site_lbl": "Tyr21" }, { "start_pos": 58, "end_pos": 58, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75444", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75444" }, { "database": "PubMed", "id": "24442204", "url": "https://glygen.org/publication/PubMed/24442204" } ], "site_lbl": "Thr58" }, { "start_pos": 62, "end_pos": 62, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75444", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75444" }, { "database": "PubMed", "id": "24442204", "url": "https://glygen.org/publication/PubMed/24442204" } ], "site_lbl": "Thr62" }, { "start_pos": 92, "end_pos": 92, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75444", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75444" }, { "database": "PubMed", "id": "25993510", "url": "https://glygen.org/publication/PubMed/25993510" } ], "site_lbl": "Tyr92" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Cbfa1 contributes to the osteoblast-specific expression of type I collagen genes.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Kern B, Shen J, Starbuck M, Karsenty G", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "11106645", "url": "https://glygen.org/publication/PubMed/11106645" } ] }, { "title": "The retinoblastoma protein acts as a transcriptional coactivator required for osteogenic differentiation.", "journal": "Molecular cell", "date": "2001", "authors": "Thomas DM, Carty SA, Piscopo DM, Lee JS, Wang WF, Forrester WC, Hinds PW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "11545733", "url": "https://glygen.org/publication/PubMed/11545733" } ] }, { "title": "Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.", "journal": "Human molecular genetics", "date": "2002", "authors": "Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC", "evidence": [ { "database": "UniProtKB", "id": "O75444", "url": "https://www.uniprot.org/uniprot/O75444" } ], "reference": [ { "type": "PubMed", "id": "11772997", "url": "https://glygen.org/publication/PubMed/11772997" } ] }, { "title": "c-Maf negatively regulates ARE-mediated detoxifying enzyme genes expression and anti-oxidant induction.", "journal": "Oncogene", "date": "2002-08-08", "authors": "Dhakshinamoorthy Saravanakumar, Jaiswal Anil K", "evidence": [ { "database": "UniProtKB", "id": "O75444", "url": "https://www.uniprot.org/uniprot/O75444" } ], "reference": [ { "type": "PubMed", "id": "12149651", "url": "https://glygen.org/publication/PubMed/12149651" } ] }, { "title": "Serine phosphorylation of RUNX2 with novel potential functions as negative regulatory mechanisms.", "journal": "EMBO reports", "date": "2002", "authors": "Wee HJ, Huang G, Shigesada K, Ito Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "12231506", "url": "https://glygen.org/publication/PubMed/12231506" } ] }, { "title": "Runx2 (Cbfa1, AML-3) interacts with histone deacetylase 6 and represses the p21(CIP1/WAF1) promoter.", "journal": "Molecular and cellular biology", "date": "2002", "authors": "Westendorf JJ, Zaidi SK, Cascino JE, Kahler R, van Wijnen AJ, Lian JB, Yoshida M, Stein GS, Li X", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "12391164", "url": "https://glygen.org/publication/PubMed/12391164" } ] }, { "title": "Transcriptional coactivation of bone-specific transcription factor Cbfa1 by TAZ.", "journal": "Molecular and cellular biology", "date": "2003", "authors": "Cui CB, Cooper LF, Yang X, Karsenty G, Aukhil I", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "12529404", "url": "https://glygen.org/publication/PubMed/12529404" } ] }, { "title": "Tyrosine phosphorylation controls Runx2-mediated subnuclear targeting of YAP to repress transcription.", "journal": "The EMBO journal", "date": "2004", "authors": "Zaidi SK, Sullivan AJ, Medina R, Ito Y, van Wijnen AJ, Stein JL, Lian JB, Stein GS", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "14765127", "url": "https://glygen.org/publication/PubMed/14765127" } ] }, { "title": "Overexpression of c-maf is a frequent oncogenic event in multiple myeloma that promotes proliferation and pathological interactions with bone marrow stroma.", "journal": "Cancer cell", "date": "2004-02", "authors": "Hurt Elaine M, Wiestner Adrian, Rosenwald Andreas, Shaffer A L, Campo Elias, Grogan Tom, Bergsagel P Leif, Kuehl W Michael, Staudt Louis M", "evidence": [ { "database": "UniProtKB", "id": "O75444", "url": "https://www.uniprot.org/uniprot/O75444" } ], "reference": [ { "type": "PubMed", "id": "14998494", "url": "https://glygen.org/publication/PubMed/14998494" } ] }, { "title": "Integration of high-resolution array comparative genomic hybridization analysis of chromosome 16q with expression array data refines common regions of loss at 16q23-qter and identifies underlying candidate tumor suppressor genes in prostate cancer.", "journal": "Oncogene", "date": "2004-04-22", "authors": "Watson J E Vivienne, Doggett Norman A, Albertson Donna G, Andaya Armann, Chinnaiyan Arul, van Dekken Herman, Ginzinger David, Haqq Christopher, James Karen, Kamkar Sherwin, Kowbel David, Pinkel Daniel, Schmitt Lars, Simko Jeffry P, Volik Stanislav, Weinberg Vivian K, Paris Pamela L, Collins Colin", "evidence": [ { "database": "UniProtKB", "id": "O75444", "url": "https://www.uniprot.org/uniprot/O75444" } ], "reference": [ { "type": "PubMed", "id": "15007382", "url": "https://glygen.org/publication/PubMed/15007382" } ] }, { "title": "MafA transcription factor is phosphorylated by p38 MAP kinase.", "journal": "FEBS letters", "date": "2005", "authors": "Sii-Felice K, Pouponnot C, Gillet S, Lecoin L, Girault JA, Eychene A, Felder-Schmittbuhl MP", "evidence": [ { "database": "UniProtKB", "id": "O75444", "url": "https://www.uniprot.org/uniprot/O75444" } ], "reference": [ { "type": "PubMed", "id": "15963504", "url": "https://glygen.org/publication/PubMed/15963504" } ] }, { "title": "Mutations in NOTCH1 cause aortic valve disease.", "journal": "Nature", "date": "2005", "authors": "Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "16025100", "url": "https://glygen.org/publication/PubMed/16025100" } ] }, { "title": "TAZ, a transcriptional modulator of mesenchymal stem cell differentiation.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Hong JH, Hwang ES, McManus MT, Amsterdam A, Tian Y, Kalmukova R, Mueller E, Benjamin T, Spiegelman BM, Sharp PA, Hopkins N, Yaffe MB", "evidence": [ { "database": "Reactome", "id": "R-HSA-8940973", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8940973" } ], "reference": [ { "type": "PubMed", "id": "16099986", "url": "https://glygen.org/publication/PubMed/16099986" } ] }, { "title": "Cell context reveals a dual role for Maf in oncogenesis.", "journal": "Oncogene", "date": "2006-03-02", "authors": "Pouponnot C, Sii-Felice K, Hmitou I, Rocques N, Lecoin L, Druillennec S, Felder-Schmittbuhl M-P, Eych\u00e8ne A", "evidence": [ { "database": "UniProtKB", "id": "O75444", "url": "https://www.uniprot.org/uniprot/O75444" } ], "reference": [ { "type": "PubMed", "id": "16247450", "url": "https://glygen.org/publication/PubMed/16247450" } ] }, { "title": "A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant `cerulean cataract` in an Indian family.", "journal": "American journal of medical genetics. 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