{ "uniprot_canonical_ac": "Q92922-1", "uniprot_ac": "Q92922", "uniprot_id": "SMRC1_HUMAN", "mass": { "chemical_mass": 122867.0, "monoisotopic_mass": 122867.0 }, "refseq": { "ac": "NP_003065", "name": "SWI/SNF complex subunit SMARCC1", "summary": "The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065" }, "gene_names": [ { "name": "SMARCC1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q92922", "id": "Q92922" }, { "name": "BAF155; CRACC1; HYC5; Rsc8; SRG3; SWI3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065", "id": "NP_003065" }, { "name": "BAF155", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q92922", "id": "Q92922" }, { "name": "SMARCC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065", "id": "NP_003065" } ], "protein_names": [ { "name": "SWI/SNF complex subunit SMARCC1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q92922" }, { "name": "BAF155", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92922" }, { "name": "BRG1-associated factor 155", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92922" }, { "name": "SWI/SNF complex 155 kDa subunit", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92922" }, { "name": "SWI/SNF complex subunit SMARCC1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065", "id": "NP_003065" }, { "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q92922" }, { "name": "chromatin remodeling complex BAF155 subunit; SWI/SNF complex 155 kDa subunit; mammalian chromatin remodeling complex BRG1-associated factor 155; SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065", "id": "NP_003065" } ], "function": [ { "annotation": "First reports of fetal SMARCC1 related hydrocephalus. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_003065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065" }, { "database": "PubMed", "id": "37285932", "url": "https://glygen.org/publication/PubMed/37285932" } ] }, { "annotation": "Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. May stimulate the ATPase activity of the catalytic subunit of the complex (PubMed:10078207, PubMed:29374058). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q92922", "url": "https://www.uniprot.org/uniprot/Q92922#function" }, { "database": "PubMed", "id": "26601204", "url": "https://glygen.org/publication/PubMed/26601204" }, { "database": "PubMed", "id": "11018012", "url": "https://glygen.org/publication/PubMed/11018012" }, { "database": "UniProtKB", "id": "P97496", "url": "https://www.uniprot.org/uniprot/P97496#function" }, { "database": "PubMed", "id": "22952240", "url": "https://glygen.org/publication/PubMed/22952240" }, { "database": "PubMed", "id": "29374058", "url": "https://glygen.org/publication/PubMed/29374058" }, { "database": "PubMed", "id": "10078207", "url": "https://glygen.org/publication/PubMed/10078207" } ] }, { "annotation": "RNF138 inhibits late inflammatory gene transcription through degradation of SMARCC1 of the SWI/SNF complex.", "evidence": [ { "database": "RefSeq", "id": "NP_003065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065" }, { "database": "PubMed", "id": "36800290", "url": "https://glygen.org/publication/PubMed/36800290" } ] }, { "annotation": "SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.", "evidence": [ { "database": "RefSeq", "id": "NP_003065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065" }, { "database": "PubMed", "id": "37639281", "url": "https://glygen.org/publication/PubMed/37639281" } ] }, { "annotation": "The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065" } ] } ], "disease": [ { "disease_id": "MONDO:0859376", "recommended_name": { "id": "MONDO:0859376", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0859376", "name": "hydrocephalus, congenital, 5, susceptibility to", "description": "" }, "synonyms": [ { "id": "MIM:620241", "resource": "MIM", "url": "https://www.omim.org/entry/620241", "name": "Hydrocephalus, congenital, 5", "description": "Hydrocephalus, congenital, 5" } ], "evidence": [ { "id": "620241", "database": "MIM", "url": "https://www.omim.org/entry/620241" } ] } ], "snv": [ { "evidence": [ { "id": "rs780313816", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780313816" }, { "id": "rs780313816", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs780313816" }, { "id": "rs780313816", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs780313816#frequency_tab" }, { "id": "rs780313816", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs780313816" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1073, "end_pos": 1073, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGM->NGT).", "chr_id": "3", "chr_pos": "47590663", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M1073", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778329391", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778329391" }, { "id": "rs778329391", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778329391" }, { "id": "rs778329391", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778329391#frequency_tab" }, { "id": "rs778329391", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778329391" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 142, "end_pos": 142, "sequence_org": "P", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NAS).", "chr_id": "3", "chr_pos": "47738088", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92922", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q92922" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 142, "end_pos": 142, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NQS).", "chr_id": "3", "chr_pos": "47738087", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P142", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs756640578", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756640578" }, { "id": "rs756640578", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756640578" }, { "id": "rs756640578", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756640578" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 142, "end_pos": 142, "sequence_org": "P", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NPS->NRS).", "chr_id": "3", "chr_pos": "47738087", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P142", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92922", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q92922" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 142, "end_pos": 142, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "P", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NPS->NTS).", "chr_id": "3", "chr_pos": "47738088", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "P142", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs773800987", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773800987" }, { "id": "rs773800987", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773800987" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 164, "end_pos": 164, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNC->NNS).", "chr_id": "3", "chr_pos": "47736120", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C164", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92922", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q92922" } ], "glycoeffect": [], "start_pos": 165, "end_pos": 165, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "L", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "chr_id": "3", "chr_pos": "47736115", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "L165", "keywords": [ "biomuta", "somatic", "cancer" ] }, { "evidence": [ { "id": "rs746036041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746036041" }, { "id": "rs746036041", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746036041" }, { "id": "rs746036041", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746036041" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 201, "end_pos": 201, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KAS->NAS).", "chr_id": "3", "chr_pos": "47729068", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K201", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs752028041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752028041" }, { "id": "rs752028041", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752028041" }, { "id": "rs752028041", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752028041" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 292, "end_pos": 292, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRK->NRT).", "chr_id": "3", "chr_pos": "47710726", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K292", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q92922", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q92922" } ], "glycoeffect": [], "start_pos": 491, "end_pos": 491, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "Q", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "3", "chr_pos": "47678297", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "R491", "disease": [ { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "tumor of the Brain", "description": "" } ] }, { "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": 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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": "Q92922", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q92922" } ], "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/Q92922" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q92922", "url": "https://www.uniprot.org/uniprot/Q92922" } ], "common_name": "Human" } ], "gene": [ { "name": "SMARCC1", "url": "https://www.uniprot.org/uniprot/Q92922", "locus": { "chromosome": "3", "start_pos": 47585269, "end_pos": 47782106, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000173473", "url": "https://www.ensembl.org/id/ENSG00000173473" } ] } } ], "crossref": [ { "id": "ENSG00000173473", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000173473", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "Q92922", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q92922", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "SMARCC1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SMARCC1", "database": "GeneCards", 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"database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017884", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017884", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032448", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032448", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032450", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032450", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR032451", "url": "https://www.ebi.ac.uk/interpro/entry/IPR032451", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036388", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036388", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036420", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036420", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:6599", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6599", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "601732", "url": "http://www.omim.org/entry/601732", "database": "MIM", "categories": [ "Other" ] }, { "id": "620241", "url": "http://www.omim.org/entry/620241", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q92922", "url": "https://www.nextprot.org/entry/NX_Q92922", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q92922", "url": "https://oglcnac.org/atlas/detail/Q92922", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q92922", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92922", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "TTIDMPD", "url": "https://omabrowser.org/oma/group/TTIDMPD/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "10062at2759", "url": "http://www.orthodb.org/?query=10062at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12802", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12802", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12802:SF9", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12802:SF9", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "2YUS", "url": "https://www.rcsb.org/structure/2YUS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5GJK", "url": "https://www.rcsb.org/structure/5GJK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6KZ7", "url": "https://www.rcsb.org/structure/6KZ7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6YXO", "url": "https://www.rcsb.org/structure/6YXO", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6YXP", "url": "https://www.rcsb.org/structure/6YXP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00249", "url": "http://pfam.xfam.org/family/PF00249", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF04433", "url": "http://pfam.xfam.org/family/PF04433", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16495", "url": "http://pfam.xfam.org/family/PF16495", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16496", "url": "http://pfam.xfam.org/family/PF16496", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF16498", "url": "http://pfam.xfam.org/family/PF16498", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q92922", "url": "https://pharos.nih.gov/targets/Q92922", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_Q92922", "url": "http://purl.obolibrary.org/obo/PR_Q92922", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-8939243", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939243", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_003065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F8WE13", "url": "https://www.uniprot.org/uniprot/F8WE13", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WE13-1", "url": "https://www.uniprot.org/uniprot/F8WE13-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92922", "url": "https://www.uniprot.org/uniprot/Q92922", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q92922-1", "url": "https://www.uniprot.org/uniprot/Q92922-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVVQLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKPWKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLYGKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNVTEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQWGLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFGLRTDIYSKKTLAKSKGASAGREWTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVASAAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGAEEEKMEADPDGQQPEKAENKVENETDEGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKHLAAVEERKIKSLVALLVETQMKKLEIKLRHFEELETIMDREKEALEQQRQQLLTERQNFHMEQLKYAELRARQQMEQQQHGQNPQQAHQHSGGPGLAPLGAAGHPGMMPHQQPPPYPLMHHQMPPPHPPQPGQIPGPGSMMPGQHMPGRMIPTVAANIHPSGSGPTPPGMPPMPGNILGPRVPLTAPNGMYPPPPQQQPPPPPPADGVPPPPAPGPPASAAP", "length": 1105, "header": "sp|Q92922-1|SMRC1_HUMAN Isoform 1 of SWI/SNF complex subunit SMARCC1 OS=Homo sapiens OX=9606 GN=SMARCC1 PE=1 SV=3 CANONICAL=Q92922-1" }, "isoforms": [ { "isoform_ac": "F8WE13-1", "url": "", "sequence": { "sequence": "MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVVQLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQG", "length": 133, "header": "tr|F8WE13-1|F8WE13_HUMAN Computationally mapped isoform of SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1 OS=Homo sapiens OX=9606 GN=SMARCC1 PE=1 SV=1 CANONICAL=Q92922-1" }, "locus": { "chromosome": "3", "start_pos": 47781797, "end_pos": 47745908, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454240.1", "url": "https://www.ensembl.org/id/ENST00000454240.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000414266.1", "url": "https://www.ensembl.org/id/ENSP00000414266.1" } ] } }, { "isoform_ac": "Q92922-1", "url": "", "sequence": { "sequence": "MAAAAGGGGPGTAVGATGSGIAAAAAGLAVYRRKDGGPATKFWESPETVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVVQLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGALCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYSSSQDDEEWLRPVMRKEKQVLVHWGFYPDSYDTWVHSNDVDAEIEDPPIPEKPWKVHVKWILDTDIFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANARKRKHSPSPPPPTPTESRKKSGKKGQASLYGKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNLKKDSENTPVKGGTVADLDEQDEETVTAGGKEDEDPAKGDQSRSVDLGEDNVTEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQWGLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPVDLQNFGLRTDIYSKKTLAKSKGASAGREWTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVASAAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGAEEEKMEADPDGQQPEKAENKVENETDEGDKAQDGENEKNSEKEQDSEVSEDTKSEEKETEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKHLAAVEERKIKSLVALLVETQMKKLEIKLRHFEELETIMDREKEALEQQRQQLLTERQNFHMEQLKYAELRARQQMEQQQHGQNPQQAHQHSGGPGLAPLGAAGHPGMMPHQQPPPYPLMHHQMPPPHPPQPGQIPGPGSMMPGQHMPGRMIPTVAANIHPSGSGPTPPGMPPMPGNILGPRVPLTAPNGMYPPPPQQQPPPPPPADGVPPPPAPGPPASAAP", "length": 1105, "header": "sp|Q92922-1|SMRC1_HUMAN Isoform 1 of SWI/SNF complex subunit SMARCC1 OS=Homo sapiens OX=9606 GN=SMARCC1 PE=1 SV=3 CANONICAL=Q92922-1" }, "locus": { "chromosome": "3", "start_pos": 47781797, "end_pos": 47588212, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000254480.10", "url": "https://www.ensembl.org/id/ENST00000254480.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000254480.5", "url": "https://www.ensembl.org/id/ENSP00000254480.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 603, "start_aa": "Thr", "end_pos": 603, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr603", "evidence": [ { "id": "Q92922", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92922" }, { "id": "23301498", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23301498" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "35138101", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35138101" }, { "id": "21740066", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/21740066" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "32119511", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32119511" }, { "id": "20305658", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/20305658" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" }, { "id": "33465208", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33465208" }, { "id": "Q92922", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q92922" } ] } ], 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Cell. Biol.", "date": "2003", "authors": "Hsiao PW, Fryer CJ, Trotter KW, Wang W, Archer TK", "evidence": [ { "database": "UniProtKB", "id": "Q92922", "url": "https://www.uniprot.org/uniprot/Q92922" } ], "reference": [ { "type": "PubMed", "id": "12917342", "url": "https://glygen.org/publication/PubMed/12917342" } ] }, { "title": "Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.", "journal": "Anal. Chem.", "date": "2004", "authors": "Brill LM, Salomon AR, Ficarro SB, Mukherji M, Stettler-Gill M, Peters EC", "evidence": [ { "database": "UniProtKB", "id": "Q92922", "url": "https://www.uniprot.org/uniprot/Q92922" }, { "database": "iPTMnet", "id": "Q92922", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92922" } ], "reference": [ { "type": "PubMed", "id": "15144186", "url": "https://glygen.org/publication/PubMed/15144186" } ] }, { "title": "Large-scale characterization of HeLa cell nuclear phosphoproteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villen J, Li J, Cohn MA, Cantley LC, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "Q92922", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92922" } ], "reference": [ { "type": "PubMed", "id": "15302935", "url": "https://glygen.org/publication/PubMed/15302935" } ] }, { "title": "Human SWI/SNF-associated PRMT5 methylates histone H3 arginine 8 and negatively regulates expression of ST7 and NM23 tumor suppressor genes.", "journal": "Molecular and cellular biology", "date": "2004", "authors": "Pal S, Vishwanath SN, Erdjument-Bromage H, Tempst P, Sif S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "15485929", "url": "https://glygen.org/publication/PubMed/15485929" } ] }, { "title": "Global phosphoproteome of HT-29 human colon adenocarcinoma cells.", "journal": "Journal of proteome research", "date": "2005", "authors": "Kim JE, Tannenbaum SR, White FM", "evidence": [ { "database": "iPTMnet", "id": "Q92922", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q92922" } ], "reference": [ { "type": "PubMed", "id": "16083285", "url": "https://glygen.org/publication/PubMed/16083285" } ] }, { "title": "Roles of HIPK1 and 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Med.", "date": "2020", "authors": "Jin Sheng Chih, Dong Weilai, Kundishora Adam J, Panchagnula Shreyas, Moreno-De-Luca Andres, Furey Charuta G, Allocco August A, Walker Rebecca L, Nelson-Williams Carol, Smith Hannah, Dunbar Ashley, Conine Sierra, Lu Qiongshi, Zeng Xue, Sierant Michael C, Knight James R, Sullivan William, Duy Phan Q, DeSpenza Tyrone, Reeves Benjamin C, Karimy Jason K, Marlier Arnaud, Castaldi Christopher, Tikhonova Irina R, Li Boyang, Pe\u00f1a Helena Perez, Broach James R, Kabachelor Edith M, Ssenyonga Peter, Hehnly Christine, Ge Li, Keren Boris, Timberlake Andrew T, Goto June, Mangano Francesco T, Johnston James M, Butler William E, Warf Benjamin C, Smith Edward R, Schiff Steven J, Limbrick David D, Heuer Gregory, Jackson Eric M, Iskandar Bermans J, Mane Shrikant, Haider Shozeb, Guclu Bulent, Bayri Yasar, Sahin Yener, Duncan Charles C, Apuzzo Michael L J, DiLuna Michael L, Hoffman Ellen J, Sestan Nenad, Ment Laura R, Alper Seth L, Bilguvar Kaya, Geschwind Daniel H, G\u00fcnel Murat, Lifton Richard P, Kahle Kristopher T", "evidence": [ { "database": "UniProtKB", "id": "Q92922", "url": "https://www.uniprot.org/uniprot/Q92922" } ], "reference": [ { "type": "PubMed", "id": "33077954", "url": "https://glygen.org/publication/PubMed/33077954" } ] }, { "title": "Proteomic profiling and genome-wide mapping of O-GlcNAc chromatin-associated proteins reveal an O-GlcNAc-regulated genotoxic stress response.", "journal": "Nature communications", "date": "2020", "authors": "Liu Y, Chen Q, Zhang N, Zhang K, Dou T, Cao Y, Liu Y, Li K, Hao X, Xie X, Li W, Ren Y, Zhang J", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q92922", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92922" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "title": "A new tandem enrichment strategy for the simultaneous profiling of O-GlcNAcylation and phosphorylation in RNA-binding proteome.", "journal": "The Analyst", "date": "2021", "authors": "Fan Z, Li J, Liu T, Zhang Z, Qin W, Qian X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q92922", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92922" }, { "database": "O-GlcNAc Atlas", "id": "Q92922", "url": "https://oglcnac.org/atlas/detail/Q92922" } ], "reference": [ { "type": "PubMed", "id": "33465208", "url": "https://glygen.org/publication/PubMed/33465208" } ] }, { "title": "O-GlcNAc modification regulates MTA1 transcriptional activity during breast cancer cell genotoxic adaptation.", "journal": "Biochimica et biophysica acta. General subjects", "date": "2021", "authors": "Xie X, Wu Q, Zhang K, Liu Y, Zhang N, Chen Q, Wang L, Li W, Zhang J, Liu Y", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q92922", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92922" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "Spatiotemporal Activation of Protein O-GlcNAcylation in Living Cells.", "journal": "Journal of the American Chemical Society", "date": "2022", "authors": "He J, Fan Z, Tian Y, Yang W, Zhou Y, Zhu Q, Zhang W, Qin W, Yi W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q92922", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q92922" } ], "reference": [ { "type": "PubMed", "id": "35138101", "url": "https://glygen.org/publication/PubMed/35138101" } ] }, { "title": "RNF138 inhibits late inflammatory gene transcription through degradation of SMARCC1 of the SWI/SNF complex.", "journal": "Cell reports", "date": "2023-02-28", "authors": "Liu Wei, Wang Ziqiao, Liu Shuo, Zhang Xuan, Cao Xuetao, Jiang Minghong", "evidence": [ { "database": "RefSeq", "id": "NP_003065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065" } ], "reference": [ { "type": "PubMed", "id": "36800290", "url": "https://glygen.org/publication/PubMed/36800290" } ] }, { "title": "First reports of fetal SMARCC1 related hydrocephalus.", "journal": "European journal of medical genetics", "date": "2023-08", "authors": "Rive Le Gouard Nicolas, Nicolle Romain, Lefebvre Mathilde, Gelot Antoinette, Heide Solveig, Gerasimenko Anna, Grigorescu Romulus, Derive Nicolas, Jouannic Jean-Marie, Garel Catherine, Valence St\u00e9phanie, Quenum-Miraillet Genevi\u00e8ve, Chantot-Bastaraud Sandra, Keren Boris, Heron Delphine, Attie-Bitach Tania", "evidence": [ { "database": "RefSeq", "id": "NP_003065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065" } ], "reference": [ { "type": "PubMed", "id": "37285932", "url": "https://glygen.org/publication/PubMed/37285932" } ] }, { "title": "SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.", "journal": "Prenatal diagnosis", "date": "2023-09", "authors": "Hourvitz Noa, Kurolap Alina, Mory Adi, Haratz Karina Krajden, Kidron Dvora, Malinger Gustavo, Baris Feldman Hagit, Yaron Yuval", "evidence": [ { "database": "RefSeq", "id": "NP_003065", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003065" } ], "reference": [ { "type": "PubMed", "id": "37639281", "url": "https://glygen.org/publication/PubMed/37639281" } ] }, { "title": "Diversity and specialization of mammalian SWI/SNF complexes.", "journal": "Genes Dev.", "date": "1996", "authors": "Crabtree G.R., Kuo A., Wang W., Xue Y., Zhou S., Cairns B.R.", "evidence": [ { "database": "UniProtKB", "id": "Q92922", "url": "https://www.uniprot.org/uniprot/Q92922" } ], "reference": [ { "type": "PubMed", "id": "8804307", "url": "https://glygen.org/publication/PubMed/8804307" } ] }, { "title": "PRMT 3, a type I protein arginine N-methyltransferase that differs from PRMT1 in its oligomerization, subcellular localization, substrate specificity, and regulation.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Tang J, Gary JD, Clarke S, Herschman HR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3214858", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858" } ], "reference": [ { "type": "PubMed", "id": "9642256", "url": "https://glygen.org/publication/PubMed/9642256" } ] }, { "title": "Mitotic inactivation of a human SWI/SNF chromatin remodeling complex.", "journal": "Genes Dev.", "date": "1998", "authors": "Sif S, Stukenberg PT, Kirschner MW, Kingston RE", "evidence": [ { "database": "UniProtKB", "id": "Q92922", "url": "https://www.uniprot.org/uniprot/Q92922" } ], "reference": [ { "type": "PubMed", "id": "9744861", "url": "https://glygen.org/publication/PubMed/9744861" } ] }, { "title": "Cyclin E associates with BAF155 and BRG1, components of the mammalian SWI-SNF complex, and alters the ability of BRG1 to induce growth arrest.", "journal": "Mol. Cell. Biol.", "date": "1999", "authors": "Shanahan F, Seghezzi W, Parry D, Mahony D, Lees E", "evidence": [ { "database": "UniProtKB", "id": "Q92922", "url": "https://www.uniprot.org/uniprot/Q92922" } ], "reference": [ { "type": "PubMed", "id": "9891079", "url": "https://glygen.org/publication/PubMed/9891079" } ] } ], "pathway": [ { "id": "hsa:6599", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6599", "resource": "KEGG Pathway" }, { "id": "R-HSA-3214858", "name": "RMTs methylate histone arginines", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3214858", "resource": "Reactome", "description": "RMTs methylate histone arginines" }, { "id": "R-HSA-8939243", "name": "RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8939243", "resource": "Reactome", "description": "RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8I6AMA8-1", "protein_name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1", "gene_name": "Smarcc1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MATTAGGGPGAAAGAVGAGGAAAASGLAVYRRKDGGPASKFWESPDTVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVVQLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGTLCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYPSSQEDEEWLRPVMRRDKQVLVHWGFYPDSYDTWVHSNDVDAEIEDAPIPEKPWKVHVKWILDTDVFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRERKASANARKRKHSPSPPPPTATESRKKSGKKGQASLYGKRRNQKDEDEQEDLTKDMEDPTPVPNIEEVLLPKNVNPKKDSENTPVKGGTVADLDEQDEEAVTTGGKEDEDPSKGDPSRSADAGEDNVTEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQWGLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPIDLQNFGLRTDIYSKKTLAKSKGASAGREWTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVASAAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGSEEEKMETDPDGQQPEKAENKGENESDEGDKIQDGENEKNSEKERDSDTSEDVKPEEKENEENKELTDTCKERESDTGKKKVEHEISEGNVATAAAAALASAATKAKHLAAVEERKIKSLVALLVETQMKKLEIKLRHFEELETIMDREKEALEQQRQQLLTERQNFHMEQLKYAELRARQQMEQQQHGQPPQQAHQHPGGPGLAPLGAAGHPGMMPHQQPPPYPMMHHQMPPPHPPQPGQIPGPGSMMPGQPMPGRMIPTVAANIHPTGSGPTPPGMPPMPGNILGPRVPLTAPNGMYPPPPQQPPPPPADGVPPPPVPGPPASATP", "length": 1102 }, "evidence": [ { "id": "45228743", "url": "http://www.informatics.jax.org/homology/45228743", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "P97496-1", "protein_name": "SWI/SNF complex subunit SMARCC1", "gene_name": "Smarcc1", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MAATAGGGPGAAAGAVGAGGAAAASGLAVYRRKDGGPASKFWESPDTVSQLDSVRVWLGKHYKKYVHADAPTNKTLAGLVVQLLQFQEDAFGKHVTNPAFTKLPAKCFMDFKAGGTLCHILGAAYKYKNEQGWRRFDLQNPSRMDRNVEMFMNIEKTLVQNNCLTRPNIYLIPDIDLKLANKLKDIIKRHQGTFTDEKSKASHHIYPYPSSQEDEEWLRPVMRRDKQVLVHWGFYPDSYDTWVHSNDVDAEIEDAPIPEKPWKVHVKWILDTDVFNEWMNEEDYEVDENRKPVSFRQRISTKNEEPVRSPERRDRKASANSRKRKPSPSPPPPTATESRKKSGKKGQASLYGKRRSQKEEDEQEDLTKDMEDPTPVPNIEEVVLPKNVNPKKDSENTPVKGGTVADLDEQDEEAVTTGGKEDEDPSKGDPSRSVDPGEDNVTEQTNHIIIPSYASWFDYNCIHVIERRALPEFFNGKNKSKTPEIYLAYRNFMIDTYRLNPQEYLTSTACRRNLTGDVCAVMRVHAFLEQWGLVNYQVDPESRPMAMGPPPTPHFNVLADTPSGLVPLHLRSPQVPAAQQMLNFPEKNKEKPIDLQNFGLRTDIYSKKTLAKSKGASAGREWTEQETLLLLEALEMYKDDWNKVSEHVGSRTQDECILHFLRLPIEDPYLENSDASLGPLAYQPVPFSQSGNPVMSTVAFLASVVDPRVASAAAKAALEEFSRVREEVPLELVEAHVKKVQEAARASGKVDPTYGLESSCIAGTGPDEPEKLEGSEEEKMETDPDGQQPEKAENKVENESDEGDKIQDRENEKNTEKEQDSDVSEDVKPEEKENEENKELTDTCKERESDAGKKKVEHEISEGNVATAAAAALASAATKAKHLAAVEERKIKSLVALLVETQMKKLEIKLRHFEELETIMDREKEALEQQRQQLLTERQNFHMEQLKYAELRARQQMEQQQQHGQTPQQAHQHTGGPGMAPLGATGHPGMMPHQQPPPYPLMHHQMPPPHPPQPGQIPGPGSMMPGQPMPGRMIPAVAANIHPTGSGPTPPGMPPMPGNILGPRVPLTAPNGMYPPPPQQQQPPPPADGVPPPPAPGPPASATP", 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