{ "uniprot_canonical_ac": "A2AMT1-1", "uniprot_ac": "A2AMT1", "uniprot_id": "BFSP1_MOUSE", "mass": { "chemical_mass": 73669.0, "monoisotopic_mass": 73669.0 }, "refseq": { "ac": "NP_001277990", "name": "filensin isoform a", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990" }, "gene_names": [ { "name": "Bfsp1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A2AMT1", "id": "A2AMT1" }, { "name": "Bfsp1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990", "id": "NP_001277990" }, { "name": "CP95", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990", "id": "NP_001277990" } ], "protein_names": [ { "name": "Filensin", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A2AMT1/entry#names_and_taxonomy", "id": "A2AMT1" }, { "name": "Beaded filament structural protein 1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A2AMT1/entry#names_and_taxonomy", "id": "A2AMT1" }, { "name": "CP95", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A2AMT1/entry#names_and_taxonomy", "id": "A2AMT1" }, { "name": "Lens fiber cell beaded-filament structural protein CP 95", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A2AMT1/entry#names_and_taxonomy", "id": "A2AMT1" }, { "name": "filensin isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990", "id": "NP_001277990" }, { "name": "filensin; lens fiber cell beaded-filament structural protein CP 95; beaded filament structural protein in lens-CP94", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990", "id": "NP_001277990" } ], "function": [ { "annotation": "AQP0 modulates GJs in the presence of BF proteins to maintain lens transparency and homeostasis.", "evidence": [ { "database": "RefSeq", "id": "NP_001277990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990" }, { "database": "PubMed", "id": "29196765", "url": "https://glygen.org/publication/PubMed/29196765" } ] }, { "annotation": "CP49 and filensin have been considered robust markers for mouse lens fiber cell differentiation. The data reported here, however, document both proteins in the mouse lens epithelium, but only after 5 weeks of age, when lens epithelial growth and mitotic activity have slowed. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001277990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990" }, { "database": "PubMed", "id": "27559293", "url": "https://glygen.org/publication/PubMed/27559293" } ] }, { "annotation": "CP49 and filensin intermediate filaments are essential for formation of cold cataract. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001277990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990" }, { "database": "PubMed", "id": "32913386", "url": "https://glygen.org/publication/PubMed/32913386" } ] }, { "annotation": "Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA (PubMed:27559293). Involved in altering the calcium regulation of MIP water permeability (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1#function" }, { "database": "PubMed", "id": "27559293", "url": "https://glygen.org/publication/PubMed/27559293" }, { "database": "UniProtKB", "id": "Q12934", "url": "https://www.uniprot.org/uniprot/Q12934#function" } ] } ], "disease": [ { "disease_id": "DOID:0110264", "recommended_name": { "id": "DOID:0110264", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110264", "name": "cataract 33", "description": "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12." }, "synonyms": [ { "id": "DOID:0110264", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110264", "name": "CTRCT33", "description": "" }, { "id": "MONDO:0012665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012665", "name": "cataract 33", "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." }, { "id": "MONDO:0012665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012665", "name": "BFSP1 early-onset non-syndromic cataract", "description": "" }, { "id": "MONDO:0012665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012665", "name": "CTRCT33", "description": "" }, { "id": "MONDO:0012665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012665", "name": "cataract 33", "description": "" }, { "id": "MONDO:0012665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012665", "name": "cataract type 33", "description": "" }, { "id": "MONDO:0012665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012665", "name": "early-onset non-syndromic cataract caused by mutation in BFSP1", "description": "" }, { "id": "MONDO:0012665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012665", "name": "cortical cataract 33", "description": "" }, { "id": "MONDO:0012665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012665", "name": "cataract 33, cortical", "description": "" }, { "id": "MONDO:0012665", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012665", "name": "cataract 33, multiple types", "description": "" }, { "id": "MIM:611391", "resource": "MIM", "url": "https://www.omim.org/entry/611391", "name": "Cataract 33, multiple types", "description": "Cataract 33, multiple types" } ], "evidence": [ { "id": "0110264", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110264" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "gene": [ { "name": "Bfsp1", "url": "https://www.uniprot.org/uniprot/A2AMT1", "locus": { "chromosome": "2", "start_pos": 143668448, "end_pos": 143705093, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000027420", "url": "https://www.ensembl.org/id/ENSMUSG00000027420" } ] } } ], "crossref": [ { "id": "ENSMUSG00000027420", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000027420", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "12075", "url": "https://www.ncbi.nlm.nih.gov/gene/12075", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR039008", "url": "https://www.ebi.ac.uk/interpro/entry/IPR039008", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042358", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042358", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:12075", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:12075", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "101770", "url": "http://www.informatics.jax.org/marker/MGI:101770", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "IQTTPRV", "url": "https://omabrowser.org/oma/group/IQTTPRV/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5314345at2759", "url": "http://www.orthodb.org/?query=5314345at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR14069", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14069", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR14069:SF0", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR14069:SF0", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00038", "url": "http://pfam.xfam.org/family/PF00038", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_A2AMT1", "url": "http://purl.obolibrary.org/obo/PR_A2AMT1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001277990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AMT1-1", "url": "https://www.uniprot.org/uniprot/A2AMT1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AMT1-2", "url": "https://www.uniprot.org/uniprot/A2AMT1-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MYRRSYVFQARQERYERAQPAGPAAQPGGTAPGLAALQALGERVAVQVQRARALQQRHAGLRRQLDAFQRLGEQPGPEDALARHVEANLQRARDLTAEHARLERQEAEAQRALDEFRSKYENECECQLVLKEMLERLNKEADEALLRNLHLQLEAQFLQADISVAKDRYKKNLLEIQTYITVLQQIVQTAPQVSLVTGMRESGLLMQEKLFTEREVAALQNQLEEGREAVTHLQAQKAELQAQTTALEQAIKHAHECYDEELQLYNEQIENLRKEIEEAERSLERSSYDCRQLAVAQQTLRNELDRYHRIIEIEGSRLSSVFIETPISLITPSHGAPLSLGSSVKDLARAVQDITAAKPRQKALPKSLPKRKEIIAQDKVEETLEDAPLKPPQEPKALQVERKAEGGSQPGAGGGHGVSPTQEGGPEDVPDGGQISKAFGKLCKVVKERVSGHKEPEPEPPTDLFTKGRHVLVTGESSFVDPEFYSSSIPARGGVVISIEEDSMHHDGHVEPSPGQPMPPVENGQGVPQGREGDHSNHQQGTDKNGLRAKEPKDLEEKDDDGKKEAEGSRRPCPVIIPGPDEPSTSHSQTSGSNQGGPVGPASKSSSLLAKGPSKALSIKKVEVVESIEKISTESIQTYEETSVIVETLIGKSKGNKKLGEKSLPDTRA", "length": 669, "header": "sp|A2AMT1-1|BFSP1_MOUSE Isoform 1 of Filensin OS=Mus musculus OX=10090 GN=Bfsp1 PE=1 SV=1 CANONICAL=A2AMT1-1" }, "isoforms": [ { "isoform_ac": "A2AMT1-1", "url": "https://www.uniprot.org/uniprotkb/A2AMT1/entry#A2AMT1-1", "sequence": { "sequence": "MYRRSYVFQARQERYERAQPAGPAAQPGGTAPGLAALQALGERVAVQVQRARALQQRHAGLRRQLDAFQRLGEQPGPEDALARHVEANLQRARDLTAEHARLERQEAEAQRALDEFRSKYENECECQLVLKEMLERLNKEADEALLRNLHLQLEAQFLQADISVAKDRYKKNLLEIQTYITVLQQIVQTAPQVSLVTGMRESGLLMQEKLFTEREVAALQNQLEEGREAVTHLQAQKAELQAQTTALEQAIKHAHECYDEELQLYNEQIENLRKEIEEAERSLERSSYDCRQLAVAQQTLRNELDRYHRIIEIEGSRLSSVFIETPISLITPSHGAPLSLGSSVKDLARAVQDITAAKPRQKALPKSLPKRKEIIAQDKVEETLEDAPLKPPQEPKALQVERKAEGGSQPGAGGGHGVSPTQEGGPEDVPDGGQISKAFGKLCKVVKERVSGHKEPEPEPPTDLFTKGRHVLVTGESSFVDPEFYSSSIPARGGVVISIEEDSMHHDGHVEPSPGQPMPPVENGQGVPQGREGDHSNHQQGTDKNGLRAKEPKDLEEKDDDGKKEAEGSRRPCPVIIPGPDEPSTSHSQTSGSNQGGPVGPASKSSSLLAKGPSKALSIKKVEVVESIEKISTESIQTYEETSVIVETLIGKSKGNKKLGEKSLPDTRA", "length": 669, "header": "sp|A2AMT1-1|BFSP1_MOUSE Isoform 1 of Filensin OS=Mus musculus OX=10090 GN=Bfsp1 PE=1 SV=1 CANONICAL=A2AMT1-1" }, "locus": { "chromosome": "2", "start_pos": 143704851, "end_pos": 143668589, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000099296.4", "url": "https://www.ensembl.org/id/ENSMUST00000099296.4" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000096899.4", "url": "https://www.ensembl.org/id/ENSMUSP00000096899.4" } ] } }, { "isoform_ac": "A2AMT1-2", "url": "https://www.uniprot.org/uniprotkb/A2AMT1/entry#A2AMT1-2", "sequence": { "sequence": "MYRRSYVFQARQERYERAQPAGPAAQPGGTAPGLAALQALGERVAVQVQRARALQQRHAGLRRQLDAFQRLGEQPGPEDALARHVEANLQRARDLTAEHARLERQEAEAQRALDEFRSKYENECECQLVLKEMLERLNKEADEALLRNLHLQLEAQFLQADISVAKDRYKKNLLEIQTYITVLQQIVQTAPQVSLVTGMREEKLFTEREVAALQNQLEEGREAVTHLQAQKAELQAQTTALEQAIKHAHECYDEELQLYNEQIENLRKEIEEAERSLERSSYDCRQLAVAQQTLRNELDRYHRIIEIEGSRLSSVFIETPISLITPSHGAPLSLGSSVKDLARAVQDITAAKPRQKALPKSLPKRKEIIAQDKVEETLEDAPLKPPQEPKALQVERKAEGGSQPGAGGGHGVSPTQEGGPEDVPDGGQISKAFGKLCKVVKERVSGHKEPEPEPPTDLFTKGRHVLVTGESSFVDPEFYSSSIPARGGVVISIEEDSMHHDGHVEPSPGQPMPPVENGQGVPQGREGDHSNHQQGTDKNGLRAKEPKDLEEKDDDGKKEAEGSRRPCPVIIPGPDEPSTSHSQTSGSNQGGPVGPASKSSSLLAKGPSKALSIKKVEVVESIEKISTESIQTYEETSVIVETLIGKSKGNKKLGEKSLPDTRA", "length": 663, "header": "sp|A2AMT1-2|BFSP1_MOUSE Isoform 2 of Filensin OS=Mus musculus OX=10090 GN=Bfsp1 PE=1 SV=1 CANONICAL=A2AMT1-1" }, "locus": { "chromosome": "2", "start_pos": 143704851, "end_pos": 143668589, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000028907.14", "url": "https://www.ensembl.org/id/ENSMUST00000028907.14" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000028907.8", "url": "https://www.ensembl.org/id/ENSMUSP00000028907.8" } ] } } ], "glycosylation": [], "phosphorylation": [ { "start_pos": 339, "end_pos": 339, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "site_lbl": "Ser339" }, { "start_pos": 513, "end_pos": 513, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "site_lbl": "Ser513" }, { "start_pos": 569, "end_pos": 569, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "A2AMT1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/A2AMT1" } ], "site_lbl": "Ser569" }, { "start_pos": 585, "end_pos": 585, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "site_lbl": "Thr585" }, { "start_pos": 5, "end_pos": 5, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "site_lbl": "Ser5" } ], "glycation": [], "keywords": [], "publication": [ { "title": "Characterization of a mutation in the lens-specific CP49 in the 129 strain of mouse.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "2004", "authors": "Alizadeh Azita, Clark John, Seeberger Teri, Hess John, Blankenship Tom, FitzGerald Paul G", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "reference": [ { "type": "PubMed", "id": "14985306", "url": "https://glygen.org/publication/PubMed/14985306" } ] }, { "title": "Periplakin interactions with lens intermediate and beaded filaments.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "2009", "authors": "Yoon KH, FitzGerald PG", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "reference": [ { "type": "PubMed", "id": "19029034", "url": "https://glygen.org/publication/PubMed/19029034" } ] }, { "title": "Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers.", "journal": "Dev. Biol.", "date": "2011", "authors": "Maddala Rupalatha, Skiba Nikolai P, Lalane Robert, Sherman Diane L, Brophy Peter J, Rao Ponugoti V", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "reference": [ { "type": "PubMed", "id": "21745462", "url": "https://glygen.org/publication/PubMed/21745462" } ] }, { "title": "Expression of the type VI intermediate filament proteins CP49 and filensin in the mouse lens epithelium.", "journal": "Molecular vision", "date": "2016", "authors": "FitzGerald P, Sun N, Shibata B, Hess JF", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" }, { "database": "RefSeq", "id": "NP_001277990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990" } ], "reference": [ { "type": "PubMed", "id": "27559293", "url": "https://glygen.org/publication/PubMed/27559293" } ] }, { "title": "Aquaporin 0 Modulates Lens Gap Junctions in the Presence of Lens-Specific Beaded Filament Proteins.", "journal": "Investigative ophthalmology & visual science", "date": "2017", "authors": "Kumari S, Gao J, Mathias RT, Sun X, Eswaramoorthy A, Browne N, Zhang N, Varadaraj K", "evidence": [ { "database": "RefSeq", "id": "NP_001277990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990" } ], "reference": [ { "type": "PubMed", "id": "29196765", "url": "https://glygen.org/publication/PubMed/29196765" } ] }, { "title": "CP49 and filensin intermediate filaments are essential for formation of cold cataract.", "journal": "Molecular vision", "date": "2020", "authors": "Li Y, Liu X, Xia CH, FitzGerald PG, Li R, Wang J, Gong X", "evidence": [ { "database": "RefSeq", "id": "NP_001277990", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001277990" } ], "reference": [ { "type": "PubMed", "id": "32913386", "url": "https://glygen.org/publication/PubMed/32913386" } ] }, { "title": "Gene structure and sequence comparisons of the eye lens specific protein, filensin, from rat and mouse: implications for protein classification and assembly.", "journal": "Gene", "date": "1997", "authors": "Masaki S, Quinlan RA", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "reference": [ { "type": "PubMed", "id": "9409766", "url": "https://glygen.org/publication/PubMed/9409766" } ] }, { "title": "Identification and functional analysis of the mouse lens filensin gene promoter.", "journal": "Gene", "date": "1998", "authors": "Masaki S, Kamachi Y, Quinlan R A, Yonezawa S, Kondoh H", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "reference": [ { "type": "PubMed", "id": "9651486", "url": "https://glygen.org/publication/PubMed/9651486" } ] } ], "pathway": [ { "id": "mmu:12075", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:12075", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q02435-1", "protein_name": "Filensin", "gene_name": "Bfsp1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MYRRSYVFQARQERYERAQPAGPTAQPGGTAPGLAALQALGERVAAQVQRARALQQRHAGLRRQLYAFQRLGEQPGPEEALARHVEANLQRARDLAAEHARLERQEAEAQRALDEFRSKYENECECQLVLKEMLERLNKEADEALLRNLHLQLEAQFLQADISVAKDRYKKNLLEIQTYITILQQIIQTAPQVSLVTGGMREEKLLTEREVAALRNQLDEGREAVTHLQAQKAELQAQTTALEQAIKHAHECYDDEIQLYNGQIENLRKEIEEAERSLERSSYDCRQLAVAQQTLRNELDRYHRIIEIEGNRLSSVFIETPISLITPSHGASLSLGSNVKDLTRAVQDITAAKPRQKALPKSLPKRKEIIAQDKVDETLEDAPLKTLQEPKAVQGELTGDGDSQLGAGGGHEVSPTQEGGPEDVPDGSQISKAFGKLCKVVKERVSGHKEPVPEPPADLFTKGRHILVTGESSFVDPEFYSSSIPARGGVVVSIEEDSMHHDGHVEPSPGQPMPPVENGQGVPQGREGAHSNHQQVTDKNGIRAKEPKDLEEKDDDSRKDDEAGRRPCPVIIPGPDGPSTTHSQTSGSNQGGPEGPGSKSSSLLAKSPSKALSFKKV", "length": 617 }, "evidence": [ { "id": "46374031", "url": "http://www.informatics.jax.org/homology/46374031", "database": "MGI" }, { "id": "A2AMT1", "url": "https://omabrowser.org/oma/group/A2AMT1/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q06637-1", "protein_name": "Filensin", "gene_name": "BFSP1", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": "MYRSSFLREVRKEKYERSDAYDELRGSPEFDSLAQAQGLENLQELNERFASYINRARVLEQRNTILRKQLETFQRMDELVGLDEAFAGQIEFNRQRMRELASDRAKLEREEKDAQRMLDEYHNKYRNEREYQQKLKETLERLNKEADEALLCNLELQIESQFLQDDINATKDRYKKNLMEIQTYVNILQQIIQTTPRVSPITTGISEEKLVAERRIPVLQSQLEEYKSILCQLQAQKYKLQTETTMLEQAIKNTQESYDDEIQLYNEQIENLRKGIEEAERTLEKYTTDCRQLVIYQQSLENELERYKRIIENEDSRLNSAIAGTPVTLFTQIYRPVQPQASRGRDITQAMQEIASVKPRQKALTKKLSRKKEIMSKDITDGLSPEKLYERTVEVFDQDQLEFRHEGSVTCEPGQEELELVEKEAVPEDVPDGAQISKAFDKLCNLVKEKIRVYKRPEAKVDSHPKGRYVLVTGEEGYEEPCFSSIPAGGGITVSTSNGKVTIGGDVEPIPELPEPSEPSEKEKRDICERRDEFETQDKLKEEEKEDLFEWGKIRGKIEQVTKYPDVSEPEAVPSPGLISPAEPGVLQETDHDREDKQGLLFREAGLPGSVSYEKVEVVESIEKFSDDRIQTYEETAMIVETMIEKTSKKKPGDKGS", "length": 657 }, "evidence": [ { "id": "A2AMT1", "url": "https://omabrowser.org/oma/group/A2AMT1/", "database": "OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" }, { "uniprot_canonical_ac": "Q12934-1", "protein_name": "Filensin", "gene_name": "BFSP1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MYRRSYVFQTRKEQYEHADEASRAAEPERPADEGWAGATSLAALQGLGERVAAHVQRARALEQRHAGLRRQLDAFQRLGELAGPEDALARQVESNRQRVRDLEAERARLERQGTEAQRALDEFRSKYENECECQLLLKEMLERLNKEADEALLHNLRLQLEAQFLQDDISAAKDRHKKNLLEVQTYISILQQIIHTTPPASIVTSGMREEKLLTEREVAALRSQLEEGREVLSHLQAQRVELQAQTTTLEQAIKSAHECYDDEIQLYNEQIETLRKEIEETERVLEKSSYDCRQLAVAQQTLKNELDRYHRIIEIEGNRLTSAFIETPIPLFTQSHGVSLSTGSGGKDLTRALQDITAAKPRQKALPKNVPRRKEIITKDKTNGALEDAPLKGLEDTKLVQVVLKEESESKFESESKEVSPLTQEGAPEDVPDGGQISKGFGKLYRKVKEKVRSPKEPETPTELYTKERHVLVTGDANYVDPRFYVSSITAKGGVAVSVAEDSVLYDGQVEPSPESPKPPLENGQVGLQEKEDGQPIDQQPIDKEIEPDGAELEGPEEKREGEERDEESRRPCAMVTPGAEEPSIPEPPKPAADQDGAEVLGTRSRSLPEKGPPKALAYKTVEVVESIEKISTESIQTYEETAVIVETMIGKTKSDKKKSGEKSS", "length": 665 }, "evidence": [ { "id": "46374031", "url": "http://www.informatics.jax.org/homology/46374031", "database": "MGI" }, { "id": "A2AMT1", "url": "https://omabrowser.org/oma/group/A2AMT1/", "database": "OMA" } ], "glygen_name": "Human", "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "pmid": "" }, { "name": "cell cortex", "id": "GO:0005938", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005938", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "pmid": "" }, { "name": "intermediate filament", "id": "GO:0005882", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005882", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "intermediate filament organization", "id": "GO:0045109", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045109", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "pmid": "" }, { "name": "cell maturation", "id": "GO:0048469", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048469", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "pmid": "" }, { "name": "lens fiber cell development", "id": "GO:0070307", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070307", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "structural constituent of eye lens", "id": "GO:0005212", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005212", "evidence": [ { "database": "UniProtKB", "id": "A2AMT1", "url": "https://www.uniprot.org/uniprot/A2AMT1" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "enzyme_annotation": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [ 5, 339, 513, 569, 585 ], "sequon_annotation_sites": [] }, "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": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 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_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 5 }, { "field": "total_sites", "count": 5 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 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": 8 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }