{ "uniprot_canonical_ac": "Q8BLQ0-1", "uniprot_ac": "Q8BLQ0", "uniprot_id": "F124B_MOUSE", "mass": { "chemical_mass": 52079.0, "monoisotopic_mass": 52079.0 }, "refseq": { "ac": "NP_775601", "name": "protein FAM124B", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775601" }, "gene_names": [ { "name": "Fam124b", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q8BLQ0", "id": "Q8BLQ0" }, { "name": "A830043J08Rik", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775601", "id": "NP_775601" }, { "name": "Fam124b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775601", "id": "NP_775601" } ], "protein_names": [ { "name": "Protein FAM124B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q8BLQ0" }, { "name": "protein FAM124B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775601", "id": "NP_775601" } ], "function": [ { "annotation": "Fam124B is a novel protein possibly involved in the pathogenesis of CHARGE syndrome and neurodevelopmental disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_775601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775601" }, { "database": "PubMed", "id": "23285124", "url": "https://glygen.org/publication/PubMed/23285124" } ] } ], "disease": [], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ0", "url": "https://www.uniprot.org/uniprot/Q8BLQ0" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Fam124b", "url": "https://www.uniprot.org/uniprot/Q8BLQ0", "locus": { "chromosome": "1", "start_pos": 80176423, "end_pos": 80196190, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000043230", "url": "https://www.ensembl.org/id/ENSMUSG00000043230" } ] } } ], "crossref": [ { "id": "ENSMUSG00000043230", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000043230", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "241128", "url": "https://www.ncbi.nlm.nih.gov/gene/241128", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR029380", "url": "https://www.ebi.ac.uk/interpro/entry/IPR029380", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR046365", "url": "https://www.ebi.ac.uk/interpro/entry/IPR046365", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:241128", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:241128", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "3026880", "url": "http://www.informatics.jax.org/marker/MGI:3026880", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "PWQCYPA", "url": "https://omabrowser.org/oma/group/PWQCYPA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5392906at2759", "url": "http://www.orthodb.org/?query=5392906at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14715:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14715:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF15067", "url": "http://pfam.xfam.org/family/PF15067", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q8BLQ0", "url": "http://purl.obolibrary.org/obo/PR_Q8BLQ0", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_775601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775601", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q8BLQ0", "url": "https://www.uniprot.org/uniprot/Q8BLQ0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8BLQ0-1", "url": "https://www.uniprot.org/uniprot/Q8BLQ0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDEIQEPLALTVHLLADTGNGLLLQQALDQLLECICPEVRLFLVSERARPVNYHEKYHPRRARFPGMSVLLFLQESLGQERLFRVLDFLRRSPWQGFPTQHAQGRSCSYLPANQEFYSLHNQMPVWGMRPVNCGTDILRVTLYCSFDNYEDAIRLYEMLLQRDATVQKSDFCFFVLYATEGFSLQLSLKQLPLGMSVDPKESSVLQFRVQEIGQLVPLLPNPCVPISSARWQTQDYDGNKILLQVHPKPGVGIKNGEHPFLNGCLRGDTHPQDSSLNSVSTQRTLEPRSRRRSRSRRFKVHSLELPQPSGSWENSTDPLWRRLGWSTLADSSASGMQQRRLSIPIEPKMGRNVLREDGFEKLEAETNVDTGFTIINSEPRRSFPSRFPRDFQSSQPPRCLSGSSLEVTVSPNQGVFKDRLHPLSLPSQRDFGAKKVISKCSHHLQAQGEEKEEFFI", "length": 456, "header": "sp|Q8BLQ0-1|F124B_MOUSE Isoform 1 of Protein FAM124B OS=Mus musculus OX=10090 GN=Fam124b PE=1 SV=1 CANONICAL=Q8BLQ0-1" }, "isoforms": [ { "isoform_ac": "Q8BLQ0-1", "url": "", "sequence": { "sequence": "MDEIQEPLALTVHLLADTGNGLLLQQALDQLLECICPEVRLFLVSERARPVNYHEKYHPRRARFPGMSVLLFLQESLGQERLFRVLDFLRRSPWQGFPTQHAQGRSCSYLPANQEFYSLHNQMPVWGMRPVNCGTDILRVTLYCSFDNYEDAIRLYEMLLQRDATVQKSDFCFFVLYATEGFSLQLSLKQLPLGMSVDPKESSVLQFRVQEIGQLVPLLPNPCVPISSARWQTQDYDGNKILLQVHPKPGVGIKNGEHPFLNGCLRGDTHPQDSSLNSVSTQRTLEPRSRRRSRSRRFKVHSLELPQPSGSWENSTDPLWRRLGWSTLADSSASGMQQRRLSIPIEPKMGRNVLREDGFEKLEAETNVDTGFTIINSEPRRSFPSRFPRDFQSSQPPRCLSGSSLEVTVSPNQGVFKDRLHPLSLPSQRDFGAKKVISKCSHHLQAQGEEKEEFFI", "length": 456, "header": "sp|Q8BLQ0-1|F124B_MOUSE Isoform 1 of Protein FAM124B OS=Mus musculus OX=10090 GN=Fam124b PE=1 SV=1 CANONICAL=Q8BLQ0-1" }, "locus": { "chromosome": "1", "start_pos": 80191381, "end_pos": 80177630, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000058748", "url": "https://www.ensembl.org/id/ENSMUST00000058748" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000052208", "url": "https://www.ensembl.org/id/ENSMUSP00000052208" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.", "journal": "PLoS ONE", "date": "2012", "authors": "Batsukh T, Schulz Y, Wolf S, Rabe TI, Oellerich T, Urlaub H, Schaefer IM, Pauli S", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ0", "url": "https://www.uniprot.org/uniprot/Q8BLQ0" }, { "database": "RefSeq", "id": "NP_775601", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_775601" } ], "reference": [ { "type": "PubMed", "id": "23285124", "url": "https://glygen.org/publication/PubMed/23285124" } ] } ], "pathway": [ { "id": "mmu:241128", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:241128", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4ACJ9-1", "protein_name": "Family with sequence similarity 124 member B", "gene_name": "Fam124b", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MDETQEPLALTVHLLADTGNGLLLQQALDQLLDCICPEVRLFLVSERARPVNYQEKYHPRRARFPGMSVLLFLQESLGQERLFRVLDFLQRSPWQGFPTQHAQGRPCPYLPANQEFYSLHNQMPVWGMRPVHGGTDILRVTLYCSFDNYEDAIRLYEMLLQRDATVQKSDFCFFVLYATEGFSLQLSLKQLPLGMSVDPKESSVLQFRVQEIGQLVPLLPNPCVPISSTRWQTQDYDGNKILLQVQPKPGLGIKNGEHSFLNGCLGGDTHPQDSRLSSISTQRTLEPRSRRRSRSRRFKVQSLELPQPSGTWENARDPLWRRSGWSTLADSSSSGMQQRRLSIPVEPEMGMNALTERGFEKLEAETNVDTGFTIINSEPRRSFLSRFPRGFRSSQPPRCLSGSSLEVTTFPNQGVLKDRPRPLSLPGQRDFGAKKAISKCPHHLPVQGEEKEEFFI", "length": 456 }, "evidence": [ { "id": "45241195", "url": "http://www.informatics.jax.org/homology/45241195", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q9H5Z6-1", "protein_name": "Protein FAM124B", "gene_name": "FAM124B", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MDETQGPLAMTVHLLANSGHGSLLQRTLDQLLDCICPEVRLFQVSERASPVKYCEKSHSKRSRFPGMSVLLFLHESPGEDRLFRVLDSLQHSPWQCYPTQDTRGRLCPYFFANQEFYSLDSQLPIWGVRQVHCGSEILRVTLYCSFDNYEDAIRLYEMILQREATLQKSNFCFFVLYASKSFALQLSLKQLPPGMSVDPKESSVLQFKVQEIGQLVPLLPNPCMPISSTRWQTQDYDGNKILLQVQLNPELGVKNGILGAGMLPLGSRLTSVSAKRTSEPRSQRNQGKRSQGHSLELPEPSGSPTSDRCAGTSWKSPGRSFQVSSPAMGAHLHLSSHHLESGARMKVLNRENSFQKLEAETNVDTGLTIINSEPRQTYFGGFPRDLQTSQPPFCLPASSLGVATSKNNSVLKERVSPLPLAGQRDLGTRKTISECLLHLQVQGEEKEEDEEEFFI", "length": 455 }, "evidence": [ { "id": "45241195", "url": "http://www.informatics.jax.org/homology/45241195", "database": "MGI" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "nucleoplasm", "id": "GO:0005654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005654", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ0", "url": "https://www.uniprot.org/uniprot/Q8BLQ0" } ], "pmid": "" }, { "name": "mitochondrion", "id": "GO:0005739", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005739", "evidence": [ { "database": "UniProtKB", "id": "Q8BLQ0", "url": "https://www.uniprot.org/uniprot/Q8BLQ0" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 314, "end_pos": 316, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": 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"glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }