{ "uniprot_canonical_ac": "O00712-1", "uniprot_ac": "O00712", "uniprot_id": "NFIB_HUMAN", "mass": { "chemical_mass": 47442.0, "monoisotopic_mass": 47442.0 }, "refseq": { "ac": "NP_001177667", "name": "nuclear factor 1 B-type isoform 2", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" }, "gene_names": [ { "name": "NFIB", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00712", "id": "O00712" }, { "name": "CTF; HMGIC/NFIB; MACID; NF-I/B; NF1-B; NFI-B; NFI-RED; NFIB2; NFIB3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667", "id": "NP_001177667" }, { "name": "NFIB", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667", "id": "NP_001177667" }, { "name": "hCG_1742080", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00712", "id": "O00712" } ], "protein_names": [ { "name": "Nuclear factor 1 B-type", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00712" }, { "name": "CCAAT-box-binding transcription factor", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00712" }, { "name": "CTF", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00712" }, { "name": "NF-I/B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00712" }, { "name": "NF1-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00712" }, { "name": "NFI-B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00712" }, { "name": "Nuclear factor 1/B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00712" }, { "name": "Nuclear factor I/B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00712" }, { "name": "TGGCA-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00712" }, { "name": "nuclear factor 1 B-type isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667", "id": "NP_001177667" }, { "name": "nuclear factor 1 B-type; nuclear factor 1/B; TGGCA-binding protein; CCAAT-box-binding transcription factor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667", "id": "NP_001177667" } ], "function": [ { "annotation": "C-terminal domain of the nuclear factor I-B2 isoform is glycosylated and transactivates the WAP gene in tumor cells", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" }, { "database": "PubMed", "id": "17511965", "url": "https://glygen.org/publication/PubMed/17511965" } ] }, { "annotation": "CircIFFO1 suppresses tumor growth and metastasis of cutaneous squamous cell carcinoma by targeting the miR-424-5p/NFIB axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" }, { "database": "PubMed", "id": "37405427", "url": "https://glygen.org/publication/PubMed/37405427" } ] }, { "annotation": "Expression of NFI-B2 impairs CD4 transcription on CDd4-positive primary T-lymphocytes and cell lines in HIV-1 infection", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" }, { "database": "PubMed", "id": "12639247", "url": "https://glygen.org/publication/PubMed/12639247" } ] }, { "annotation": "Knockdown of circ-PIP5K1A overcomes resistance to cisplatin in ovarian cancer by miR-942-5p/NFIB axis.", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" }, { "database": "PubMed", "id": "36730637", "url": "https://glygen.org/publication/PubMed/36730637" } ] }, { "annotation": "Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" }, { "database": "PubMed", "id": "36756855", "url": "https://glygen.org/publication/PubMed/36756855" } ] }, { "annotation": "NFIB facilitates replication licensing by acting as a genome organizer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" }, { "database": "PubMed", "id": "37604829", "url": "https://glygen.org/publication/PubMed/37604829" } ] }, { "annotation": "Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.", "evidence": [ { "database": "UniProtKB", "id": "A0A0A0MRX8", "url": "https://www.uniprot.org/uniprot/A0A0A0MRX8#function" }, { "database": "UniProtKB", "id": "RU000690", "url": "https://www.uniprot.org/uniprot/RU000690#function" }, { "database": "UniProtKB", "id": "Q5VW30", "url": "https://www.uniprot.org/uniprot/Q5VW30#function" }, { "database": "UniProtKB", "id": "A0A1B0GWJ4", "url": "https://www.uniprot.org/uniprot/A0A1B0GWJ4#function" }, { "database": "UniProtKB", "id": "U3KQE8", "url": "https://www.uniprot.org/uniprot/U3KQE8#function" }, { "database": "UniProtKB", "id": "A0A1B0GU97", "url": "https://www.uniprot.org/uniprot/A0A1B0GU97#function" }, { "database": "UniProtKB", "id": "A0A2R8Y7V8", "url": "https://www.uniprot.org/uniprot/A0A2R8Y7V8#function" }, { "database": "UniProtKB", "id": "Q5VW27", "url": "https://www.uniprot.org/uniprot/Q5VW27#function" }, { "database": "UniProtKB", "id": "Q5VW26", "url": "https://www.uniprot.org/uniprot/Q5VW26#function" }, { "database": "UniProtKB", "id": "A0A1B0GW37", "url": "https://www.uniprot.org/uniprot/A0A1B0GW37#function" }, { "database": "UniProtKB", "id": "A0A1B0GWI9", "url": "https://www.uniprot.org/uniprot/A0A1B0GWI9#function" } ] }, { "annotation": "Transcriptional activator of GFAP, essential for proper brain development (PubMed:30388402). 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"namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "92.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000147862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000147862" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "93.78", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000147862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000147862" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O00712", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00712" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", 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hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O00712", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00712" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00712" } ], "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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somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" } ], "common_name": "Human" } ], "gene": [ { "name": "NFIB", "url": "https://www.uniprot.org/uniprot/O00712", "locus": { "chromosome": "9", "start_pos": 14081843, "end_pos": 14398983, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000147862", "url": "https://www.ensembl.org/id/ENSG00000147862" } ] } } ], "crossref": [ { "id": "ENSG00000147862", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000147862", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O00712", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O00712", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "NFIB", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NFIB", "database": "GeneCards", "categories": [ 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"MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQSWYLG", "length": 420, "header": "sp|O00712-1|NFIB_HUMAN Isoform 1 of Nuclear factor 1 B-type OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=2 CANONICAL=O00712-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MRX8-1", "url": "", "sequence": { "sequence": "MERIPVSVDFWVVCCAVLKCNPGIPKRMSTLCFGFSDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQSWYLG", "length": 446, "header": "tr|A0A0A0MRX8-1|A0A0A0MRX8_HUMAN Computationally mapped isoform of Nuclear factor 1 OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14398631, "end_pos": 14088312, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380934.8", "url": "https://www.ensembl.org/id/ENST00000380934.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000370321.4", "url": "https://www.ensembl.org/id/ENSP00000370321.4" } ] } }, { "isoform_ac": "A0A1B0GTC1-1", "url": "", "sequence": { "sequence": "MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGV", "length": 182, "header": "tr|A0A1B0GTC1-1|A0A1B0GTC1_HUMAN Computationally mapped isoform of Nuclear factor I B OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14313511, "end_pos": 14150180, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636063.1", "url": "https://www.ensembl.org/id/ENST00000636063.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000489634.1", "url": "https://www.ensembl.org/id/ENSP00000489634.1" } ] } }, { "isoform_ac": "A0A1B0GU97-1", "url": "", "sequence": { "sequence": "MDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQLRICDWTMNQNGRHLYPSTSEDTLGITWQSPGTWASLVPFQVSNRTPILPANVQNYGLNIIGEPFLQAETSN", "length": 478, "header": "tr|A0A1B0GU97-1|A0A1B0GU97_HUMAN Computationally mapped isoform of Nuclear factor 1 OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14307922, "end_pos": 14088200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637640.1", "url": "https://www.ensembl.org/id/ENST00000637640.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490020.1", "url": "https://www.ensembl.org/id/ENSP00000490020.1" } ] } }, { "isoform_ac": "A0A1B0GVN4-1", "url": "", "sequence": { "sequence": "MQYSAMDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQPNGSGQVVGKVPGHFTPVLAPSPHPSAVRPVTLSMTDTKPITTSTEGEAASPTATTYTASGTSQANRYVGLSPRDPSFLHQQQSWYLG", "length": 424, "header": "tr|A0A1B0GVN4-1|A0A1B0GVN4_HUMAN Computationally mapped isoform of Nuclear factor I B OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14321958, "end_pos": 14088312, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636432.1", "url": "https://www.ensembl.org/id/ENST00000636432.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490588.1", "url": "https://www.ensembl.org/id/ENSP00000490588.1" } ] } }, { "isoform_ac": "A0A1B0GW37-1", "url": "", "sequence": { "sequence": "MDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQSWYLG", "length": 411, "header": "tr|A0A1B0GW37-1|A0A1B0GW37_HUMAN Computationally mapped isoform of Nuclear factor 1 OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14307922, "end_pos": 14088312, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636057.1", "url": "https://www.ensembl.org/id/ENST00000636057.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490762.1", "url": "https://www.ensembl.org/id/ENSP00000490762.1" } ] } }, { "isoform_ac": "A0A1B0GWB8-1", "url": "", "sequence": { "sequence": "MLTFLWQRDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQLRICDWTMNQNGRHLYPSTSEDTLGITWQSPGTWASLVPFQVSNRTPILPANVQNYGLNIIGEPFLQAETSN", "length": 308, "header": "tr|A0A1B0GWB8-1|A0A1B0GWB8_HUMAN Computationally mapped isoform of Nuclear factor I B OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14300210, "end_pos": 14088200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636735.1", "url": "https://www.ensembl.org/id/ENST00000636735.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490864.1", "url": "https://www.ensembl.org/id/ENSP00000490864.1" } ] } }, { "isoform_ac": "A0A1B0GWI9-1", "url": "", "sequence": { "sequence": "XAMDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQLRICDWTMNQNGRHLYPSTSEDTLGITWQSPGTWASLVPFQVSNRTPILPANVQNYGLNIIGEPFLQAETSN", "length": 480, "header": "tr|A0A1B0GWI9-1|A0A1B0GWI9_HUMAN Computationally mapped isoform of Nuclear factor 1 OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14321948, "end_pos": 14088199, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000635877.1", "url": "https://www.ensembl.org/id/ENST00000635877.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490945.1", "url": "https://www.ensembl.org/id/ENSP00000490945.1" } ] } }, { "isoform_ac": "A0A1B0GWJ4-1", "url": "", "sequence": { "sequence": "MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQLRICDWTMNQNGRHLYPSTSEDTLGITWQS", "length": 445, "header": "tr|A0A1B0GWJ4-1|A0A1B0GWJ4_HUMAN Computationally mapped isoform of Nuclear factor 1 OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14313511, "end_pos": 14093464, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000637742.1", "url": "https://www.ensembl.org/id/ENST00000637742.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490950.1", "url": "https://www.ensembl.org/id/ENSP00000490950.1" } ] } }, { "isoform_ac": "A0A2R8Y7V8-1", "url": "", "sequence": { "sequence": "MQYSAMDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQPNGSGQVVGKVPGHFTPVLAPSPHPSAVRPVTLSMTDTKPITTSTEGEAASPTATTYTASGTSQANRYVGLSPRDPSFLHQQQLRICDWTMNQNGRHLYPSTSEDTLGITWQSPGTWASLVPFQVSNRTPILPANVQNYGLNIIGEPFLQAETSN", "length": 566, "header": "tr|A0A2R8Y7V8-1|NFIB_HUMAN Computationally mapped isoform of Nuclear factor 1 B-type OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14321958, "end_pos": 14088200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646622.1", "url": "https://www.ensembl.org/id/ENST00000646622.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496424.1", "url": "https://www.ensembl.org/id/ENSP00000496424.1" } ] } }, { "isoform_ac": "O00712-1", "url": "", "sequence": { "sequence": "MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQSWYLG", "length": 420, "header": "sp|O00712-1|NFIB_HUMAN Isoform 1 of Nuclear factor 1 B-type OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=2 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14313511, "end_pos": 14088312, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380959.7", "url": "https://www.ensembl.org/id/ENST00000380959.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000370346.3", "url": "https://www.ensembl.org/id/ENSP00000370346.3" } ] } }, { "isoform_ac": "O00712-2", "url": "", "sequence": { "sequence": "MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEAR", "length": 188, "header": "sp|O00712-2|NFIB_HUMAN Isoform 2 of Nuclear factor 1 B-type OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=2 CANONICAL=O00712-1" }, "locus": {} }, { "isoform_ac": "O00712-4", "url": "", "sequence": { "sequence": "MERIPVSVDFWVVCCAVLKCNPGIPMERIPVSVDFWVVCCAVLKCNPGIPKRMSTLCFGFSDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQSWYLG", "length": 471, "header": "sp|O00712-4|NFIB_HUMAN Isoform 4 of Nuclear factor 1 B-type OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=2 CANONICAL=O00712-1" }, "locus": {} }, { "isoform_ac": "O00712-5", "url": "", "sequence": { "sequence": "MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQPNGSGQVVGKVPGHFTPVLAPSPHPSAVRPVTLSMTDTKPITTSTEAYTASGTSQANRYVGLSPRDPSFLHQQQSWYLG", "length": 494, "header": "sp|O00712-5|NFIB_HUMAN Isoform 5 of Nuclear factor 1 B-type OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=2 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14313511, "end_pos": 14088312, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380953.6", "url": "https://www.ensembl.org/id/ENST00000380953.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000370340.1", "url": "https://www.ensembl.org/id/ENSP00000370340.1" } ] } }, { "isoform_ac": "O00712-6", "url": "", "sequence": { "sequence": "MNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQPNGSGQVVGKVPGHFTPVLAPSPHPSAVRPVTLSMTDTKPITTSTEAYTASGTSQANRYVGLSPRDPSFLHQQQLRICDWTMNQNGRHLYPSTSEDTLGITWQSPGTWASLVPFQVSNRTPILPANVQNYGLNIIGEPFLQAETSN", "length": 309, "header": "sp|O00712-6|NFIB_HUMAN Isoform 6 of Nuclear factor 1 B-type OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=2 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14150194, "end_pos": 14088200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000543693.5", "url": "https://www.ensembl.org/id/ENST00000543693.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000442888.1", "url": "https://www.ensembl.org/id/ENSP00000442888.1" } ] } }, { "isoform_ac": "Q5VW26-1", "url": "", "sequence": { "sequence": "MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQPNGSGQVVGKVPGHFTPVLAPSPHPSAVRPVTLSMTDTKPITTSTEGEAASPTATTYTASGTSQANRYVGLSPRDPSFLHQQQLRICDWTMNQNGRHLYPSTSEDTLGITWQSPGTWASLVPFQVSNRTPILPANVQNYGLNIIGEPFLQAETSN", "length": 570, "header": "tr|Q5VW26-1|Q5VW26_HUMAN Computationally mapped isoform of Nuclear factor 1 OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14313511, "end_pos": 14088200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397581.7", "url": "https://www.ensembl.org/id/ENST00000397581.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000380711.2", "url": "https://www.ensembl.org/id/ENSP00000380711.2" } ] } }, { "isoform_ac": "Q5VW27-1", "url": "", "sequence": { "sequence": "MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQLRICDWTMNQNGRHLYPSTSEDTLGITWQSPGTWASLVPFQVSNRTPILPANVQNYGLNIIGEPFLQAETSN", "length": 487, "header": "tr|Q5VW27-1|Q5VW27_HUMAN Computationally mapped isoform of Nuclear factor 1 OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14313511, "end_pos": 14088200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397579.6", "url": "https://www.ensembl.org/id/ENST00000397579.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000380709.2", "url": "https://www.ensembl.org/id/ENSP00000380709.2" } ] } }, { "isoform_ac": "Q5VW30-1", "url": "", "sequence": { "sequence": "MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQPNGSGQVVGKVPGHFTPVLAPSPHPSAVRPVTLSMTDTKPITTSTEAYTASGTSQANRYVGLSPRDPSFLHQQQLRICDWTMNQNGRHLYPSTSEDTLGITWQSPGTWASLVPFQVSNRTPILPANVQNYGLNIIGEPFLQAETSN", "length": 561, "header": "tr|Q5VW30-1|Q5VW30_HUMAN Computationally mapped isoform of Nuclear factor 1 OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14313511, "end_pos": 14088200, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000397575.7", "url": "https://www.ensembl.org/id/ENST00000397575.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000380705.3", "url": "https://www.ensembl.org/id/ENSP00000380705.3" } ] } }, { "isoform_ac": "Q5VW31-1", "url": "", "sequence": { "sequence": "MNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQSWYLG", "length": 168, "header": "tr|Q5VW31-1|Q5VW31_HUMAN Computationally mapped isoform of Nuclear factor I B OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14150194, "end_pos": 14088312, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380924.1", "url": "https://www.ensembl.org/id/ENST00000380924.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000370311.1", "url": "https://www.ensembl.org/id/ENSP00000370311.1" } ] } }, { "isoform_ac": "Q5W0Y9-1", "url": "", "sequence": { "sequence": "MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQGKNFFSSNKCIKI", "length": 200, "header": "tr|Q5W0Y9-1|Q5W0Y9_HUMAN Computationally mapped isoform of Nuclear factor 1 B-type OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=1 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14313511, "end_pos": 14305981, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000380921.3", "url": "https://www.ensembl.org/id/ENST00000380921.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000370308.3", "url": "https://www.ensembl.org/id/ENSP00000370308.3" } ] } }, { "isoform_ac": "U3KPY9-1", "url": "", "sequence": { "sequence": "MVLHSDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITV", "length": 166, "header": "tr|U3KPY9-1|U3KPY9_HUMAN Computationally mapped isoform of Nuclear factor 1 B-type OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=8 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14307922, "end_pos": 14307038, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000493697.1", "url": "https://www.ensembl.org/id/ENST00000493697.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000475362.1", "url": "https://www.ensembl.org/id/ENSP00000475362.1" } ] } }, { "isoform_ac": "U3KQE8-1", "url": "", "sequence": { "sequence": "MQYSAMDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQDSGQSGSPSHNDPAKNPPGYLEDSFVKSGVFNVSELVRVSRTPITQGTGVNFPIGEIPSQPYYHDMNSGVNLQRSLSSPPSSKRPKTISIDENMEPSPTGDFYPSPSSPAAGSRTWHERDQDMSSPTTMKKPEKPLFSSASPQDSSPRLSTFPQHHHPGIPGVAHSVISTRTPPPPSPLPFPTQAILPPAPSSYFSHPTIRYPPHLNPQDTLKNYVPSYDPSSPQTSQSWYLG", "length": 416, "header": "tr|U3KQE8-1|U3KQE8_HUMAN Computationally mapped isoform of Nuclear factor 1 OS=Homo sapiens OX=9606 GN=NFIB PE=1 SV=2 CANONICAL=O00712-1" }, "locus": { "chromosome": "9", "start_pos": 14321958, "end_pos": 14088312, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000606230.2", "url": "https://www.ensembl.org/id/ENST00000606230.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000475813.2", "url": "https://www.ensembl.org/id/ENSP00000475813.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 325, "start_aa": "Ser", "end_pos": 325, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser325", "evidence": [ { "id": "O00712", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "17511965", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17511965" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" }, { "id": "O00712", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O00712" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 326, "start_aa": "Ser", "end_pos": 326, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser326", "evidence": [ { "id": "O00712", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "17511965", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17511965" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 333, "start_aa": "Ser", "end_pos": 333, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser333", "evidence": [ { "id": "O00712", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "17511965", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17511965" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 416, "start_aa": "Ser", "end_pos": 416, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser416", "evidence": [ { "id": "O00712", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" }, { "id": "33214551", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33214551" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "31492838", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31492838" }, { "id": "17511965", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/17511965" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "phosphorylation": [ { "start_pos": 262, "end_pos": 262, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00712", "url": "http://phospho.elm.eu.org/byAccession/O00712.html" } ], "site_lbl": "Ser262" }, { "start_pos": 264, "end_pos": 264, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "phospho.ELM", "id": "O00712", "url": "http://phospho.elm.eu.org/byAccession/O00712.html" } ], "site_lbl": "Ser264" }, { "start_pos": 265, "end_pos": 265, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00712", "url": "http://phospho.elm.eu.org/byAccession/O00712.html" } ], "site_lbl": "Ser265" }, { "start_pos": 268, "end_pos": 268, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00712", "url": "http://phospho.elm.eu.org/byAccession/O00712.html" } ], "site_lbl": "Ser268" }, { "start_pos": 276, "end_pos": 276, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser276" }, { "start_pos": 284, "end_pos": 284, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O00712", "url": "http://phospho.elm.eu.org/byAccession/O00712.html" } ], "site_lbl": "Ser284" }, { "start_pos": 286, "end_pos": 286, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" }, { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00712", "url": "http://phospho.elm.eu.org/byAccession/O00712.html" } ], "site_lbl": "Thr286" }, { "start_pos": 292, "end_pos": 292, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O00712", "url": "http://phospho.elm.eu.org/byAccession/O00712.html" } ], "site_lbl": "Ser292" }, { "start_pos": 294, "end_pos": 294, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O00712", "url": "http://phospho.elm.eu.org/byAccession/O00712.html" } ], "site_lbl": "Ser294" }, { "start_pos": 295, "end_pos": 295, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "phospho.ELM", "id": "O00712", "url": "http://phospho.elm.eu.org/byAccession/O00712.html" } ], "site_lbl": "Ser295" }, { "start_pos": 300, "end_pos": 300, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ], "site_lbl": "Ser300" }, { "start_pos": 312, "end_pos": 312, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" } ], "site_lbl": "Ser312" }, { "start_pos": 314, "end_pos": 314, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Thr314" }, { "start_pos": 325, "end_pos": 325, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser325" }, { "start_pos": 326, "end_pos": 326, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "O00712", "url": 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"glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Nuclear factor 1 (NF1) affects accurate termination and multiple-round transcription by human RNA polymerase III.", "journal": "The EMBO journal", "date": "2000", "authors": "Wang Z, Bai L, Hsieh YJ, Roeder RG", "evidence": [ { "database": "Reactome", "id": "R-HSA-73980", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73980" } ], "reference": [ { "type": "PubMed", "id": "11118217", "url": "https://glygen.org/publication/PubMed/11118217" } ] }, { "title": "Surface CD4 expression modulated by a cellular factor induced by HIV type 1 infection.", "journal": "AIDS research and human retroviruses", "date": "2003", "authors": "Sheeter D, Du P, Rought S, Richman D, Corbeil J", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" } ], "reference": [ { "type": "PubMed", "id": "12639247", "url": "https://glygen.org/publication/PubMed/12639247" } ] }, { "title": "Phosphoproteomic analysis of the developing mouse brain.", "journal": "Molecular & cellular proteomics : MCP", "date": "2004", "authors": "Ballif BA, Villen J, Beausoleil SA, Schwartz D, Gygi SP", "evidence": [ { "database": "iPTMnet", "id": "O00712-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712-1" } ], "reference": [ { "type": "PubMed", "id": "15345747", "url": "https://glygen.org/publication/PubMed/15345747" } ] }, { "title": "The C-terminal domain of the nuclear factor I-B2 isoform is glycosylated and transactivates the WAP gene in the JEG-3 cells.", "journal": "Biochemical and biophysical research communications", "date": "2007", "authors": "Mukhopadhyay SS, Rosen JM", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00712", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" }, { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" } ], "reference": [ { "type": "PubMed", "id": "17511965", "url": "https://glygen.org/publication/PubMed/17511965" } ] }, { "title": "Motif-specific sampling of phosphoproteomes.", "journal": "Journal of proteome research", "date": "2008", "authors": "Ruse CI, McClatchy DB, Lu B, Cociorva D, Motoyama A, Park SK, Yates JR 3rd", "evidence": [ { "database": "iPTMnet", "id": "O00712-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712-1" } ], "reference": [ { "type": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" }, { "database": "iPTMnet", "id": "O00712-1", "url": 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Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" }, { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" }, { "database": "iPTMnet", "id": "O00712", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00712" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.", "journal": "American journal of human genetics", "date": "2018", "authors": "Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attie-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gerard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Riviere JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" } ], "reference": [ { "type": "PubMed", "id": "30388402", "url": "https://glygen.org/publication/PubMed/30388402" } ] }, { "title": "The evolution of the 9aaTAD domain in Sp2 proteins: inactivation with valines and intron reservoirs.", "journal": "Cell. Mol. Life Sci.", "date": "2020", "authors": "Piskacek Martin, Havelka Marek, Jendruchova Kristina, Knight Andrea, Keegan Liam P", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" } ], "reference": [ { "type": "PubMed", "id": "31375868", "url": "https://glygen.org/publication/PubMed/31375868" } ] }, { "title": "Next-generation unnatural monosaccharides reveal that ESRRB O-GlcNAcylation regulates pluripotency of mouse embryonic stem cells.", "journal": "Nature communications", "date": "2019", "authors": "Hao Y, Fan X, Shi Y, Zhang C, Sun DE, Qin K, Qin W, Zhou W, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00712", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" }, { "database": "O-GlcNAc Atlas", "id": "O00712", "url": "https://oglcnac.org/atlas/detail/O00712" } ], "reference": [ { "type": "PubMed", "id": "31492838", "url": "https://glygen.org/publication/PubMed/31492838" } ] }, { "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": "O00712", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" } ], "reference": [ { "type": "PubMed", "id": "33214551", "url": "https://glygen.org/publication/PubMed/33214551" } ] }, { "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": "O00712", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" } ], "reference": [ { "type": "PubMed", "id": "34019948", "url": "https://glygen.org/publication/PubMed/34019948" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00712", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O00712", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O00712" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Transcriptional regulation of NDUFA4L2 by NFIB induces sorafenib resistance by decreasing reactive oxygen species in\u00a0hepatocellular carcinoma.", "journal": "Cancer science", "date": "2022-11-11", "authors": "Zhou Li, Mao Lin-Hong, Li Xia, Wang Qing-Liang, Chen Si-Yuan, Chen Zhi-Ji, Lei Jing, Liu Hong-Tao, Liao Si-Qi, Ran Tao, Li Xiao-Qin, Zhou Zhi-Hang, He Song", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" } ], "reference": [ { "type": "PubMed", "id": "36369883", "url": "https://glygen.org/publication/PubMed/36369883" } ] }, { "title": "Knockdown of circ-PIP5K1A overcomes resistance to cisplatin in ovarian cancer by miR-942-5p/NFIB axis.", "journal": "Anti-cancer drugs", "date": "2023-02-01", "authors": "Sheng Hui, Wang Xueling", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" } ], "reference": [ { "type": "PubMed", "id": "36730637", "url": "https://glygen.org/publication/PubMed/36730637" } ] }, { "title": "Marked intrafamilial variability of clinical and neuroimaging manifestations in NFIB-related developmental disorder.", "journal": "American journal of medical genetics. Part A", "date": "2023-05", "authors": "Gana Simone, Serpieri Valentina, Giorgio Elisa, Iorio Melanie, Rognone Elisa, Pichiecchio Anna, Chiappedi Matteo, Valente Enza Maria", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" } ], "reference": [ { "type": "PubMed", "id": "36756855", "url": "https://glygen.org/publication/PubMed/36756855" } ] }, { "title": "CircIFFO1 suppresses tumor growth and metastasis of cutaneous squamous cell carcinoma by targeting the miR-424-5p/NFIB axis.", "journal": "Archives of dermatological research", "date": "2023-11", "authors": "Yu Hui, Liu Penglin, Chen Tianli", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" } ], "reference": [ { "type": "PubMed", "id": "37405427", "url": "https://glygen.org/publication/PubMed/37405427" } ] }, { "title": "NFIB facilitates replication licensing by acting as a genome organizer.", "journal": "Nature communications", "date": "2023-08-21", "authors": "Zhang Wenting, Wang Yue, Liu Yongjie, Liu Cuifang, Wang Yizhou, He Lin, Cheng Xiao, Peng Yani, Xia Lu, Wu Xiaodi, Wu Jiajing, Zhang Yu, Sun Luyang, Chen Ping, Li Guohong, Tu Qiang, Liang Jing, Shang Yongfeng", "evidence": [ { "database": "RefSeq", "id": "NP_001177667", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001177667" } ], "reference": [ { "type": "PubMed", "id": "37604829", "url": "https://glygen.org/publication/PubMed/37604829" } ] }, { "title": "Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH.", "journal": "Genomics", "date": "1995", "authors": "Qian F, Kruse U, Lichter P, Sippel AE", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" } ], "reference": [ { "type": "PubMed", "id": "7590749", "url": "https://glygen.org/publication/PubMed/7590749" } ] }, { "title": "La proteins from Drosophila melanogaster and Saccharomyces cerevisiae: a yeast homolog of the La autoantigen is dispensable for growth.", "journal": "Molecular and cellular biology", "date": "1994", "authors": "Yoo CJ, Wolin SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-73980", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73980" } ], "reference": [ { "type": "PubMed", "id": "8035818", "url": "https://glygen.org/publication/PubMed/8035818" } ] }, { "title": "Analysis of RNA chain elongation and termination by Saccharomyces cerevisiae RNA polymerase III.", "journal": "Journal of molecular biology", "date": "1994", "authors": "Matsuzaki H, Kassavetis GA, Geiduschek EP", "evidence": [ { "database": "Reactome", "id": "R-HSA-73980", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-73980" } ], "reference": [ { "type": "PubMed", "id": "8308883", "url": "https://glygen.org/publication/PubMed/8308883" } ] }, { "title": "NFI-B3, a novel transcriptional repressor of the nuclear factor I family, is generated by alternative RNA processing.", "journal": "J. Biol. Chem.", "date": "1997", "authors": "Liu Y, Bernard HU, Apt D", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" } ], "reference": [ { "type": "PubMed", "id": "9099724", "url": "https://glygen.org/publication/PubMed/9099724" } ] }, { "title": "Identification of NFIB as recurrent translocation partner gene of HMGIC in pleomorphic adenomas.", "journal": "Oncogene", "date": "1998", "authors": "Geurts J M, Schoenmakers E F, R\u00f6ijer E, Astr\u00f6m A K, Stenman G, van de Ven W J", "evidence": [ { "database": "UniProtKB", "id": "O00712", "url": "https://www.uniprot.org/uniprot/O00712" } ], "reference": [ { "type": "PubMed", "id": "9484777", "url": "https://glygen.org/publication/PubMed/9484777" } ] }, { "title": "DNA topoisomerase I and PC4 can interact with human TFIIIC to promote both accurate termination and transcription reinitiation by RNA polymerase III.", "journal": "Molecular cell", "date": "1998", "authors": "Wang Z, Roeder 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