{ "uniprot_canonical_ac": "A2AI08-1", "ptm_annotation": [], "sequence": { "header": "sp|A2AI08-1|TPRN_MOUSE Isoform 1 of Taperin OS=Mus musculus OX=10090 GN=Tprn PE=1 SV=1 CANONICAL=A2AI08-1", "length": 749, "sequence": "MAGLGRLDPGPRTVMPAWKREILERRRAKLAALSGGQGSGAAPDGPNERLVLAESLGPLSQNPFMRLESERRRGTRPAQQLLELYCRVPGVRTIRADNILIIESAPGFPPAVPPAAGIRAAEVVVYEAPQPGRVSRLLEKFDSPAAPCRRGSPERFRPALPQLPVASASAATRTPTNRSLAPASPVRLSQPAPPISPVPVAQRAGQRSACCEPAHPDGTAGPGARRSDFLQKTGSNSFTVHPRGLPRSAVNRSLSNGPMTQESPTGPANGLSGSPPVPGKWKPKVESKEPSLHPPPSPGTPSATSVGPPAFPAPSPASATPSQRQWVSSATSANDSFEIRPSSKPDMETIPIGDLQARALANLRVNSRNSFVLIPKRKAPGNYPLAGRQFEEPKGEVGWASQSQGLGSQLVSTVDGAPALEKSPLAAEMQWAVRKGACPRPAISDTDKCVRWQRPASPPPFLPATAEAEPAEGLGVPGLAKNGQEPVRPGLPVTFIDEVDSEEEAFQEAKLPSSAVGVPSQYHLHPARPGHTSELLNRGSNTFTVVPKRKPGTLQEPHLSQTNGQSQQGAEEQDAESLSGPHTTLENTLKKRYPTVHEIEVIGGYLALQKSCLIKAGSSRKKMKISFNDKSLHTTFEYPSESSLAQEEAEEEEEEEGEEDGEEEEVGPDSEKPFTVFLPRATFVSSVGPESSSGLSSYTPKHSMAFSKWQEQTLVQTPTDVELPPKEVMLTPASQNDLSDFRSEPALYF" }, "uniprot_id": "TPRN_MOUSE", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27269051", "type": [ "PubMed" ], "id": "27269051" } ], "title": "Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function.", "journal": "eLife", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780495.2", "id": "NP_780495.2", "database": "RefSeq" } ], "authors": "Zhao B, Wu Z, Muller U", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20170899", "type": [ "PubMed" ], "id": "20170899" } ], "title": "Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780495.2", "id": "NP_780495.2", "database": "RefSeq" } ], "authors": "Ahmed Z.M., Morell R.J., Riazuddin S., Belyantseva I.A., Friedman T.B., Khan S.N., Riazuddin S.', Rehman A.U., Khan S.Y., Shahzad M., Boger E.T.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20170898", "type": [ "PubMed" ], "id": "20170898" } ], "title": "Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.", "journal": "Am. J. Hum. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780495.2", "id": "NP_780495.2", "database": "RefSeq" } ], "authors": "Li Y., Nurnberg P., Baessmann I., Veltman J.A., Nurnberg G., Kremer H., Wollnik B., Pohl E., Kubisch C., Schraders M., Barakat A., Admiraal R.J., Boulouiz R., Charif M., Kandil M., von Ameln S.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27693694", "type": [ "PubMed" ], "id": "27693694" } ], "title": "Progressive hearing loss and degeneration of hair cell stereocilia in taperin gene knockout mice.", "journal": "Biochemical and biophysical research communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780495.2", "id": "NP_780495.2", "database": "RefSeq" } ], "authors": "Chen M, Wang Q, Zhu GH, Hu P, Zhou Y, Wang T, Lai RS, Xiao ZA, Xie DH", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19144319", "type": [ "PubMed" ], "id": "19144319" } ], "title": "The phagosomal proteome in interferon-gamma-activated macrophages.", "journal": "Immunity", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "authors": "Thibault P., Trost M., Desjardins M., Courcelles M., English L., Lemieux S.", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24194600", "type": [ "PubMed" ], "id": "24194600" } ], "title": "The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780495.2", "id": "NP_780495.2", "database": "RefSeq" } ], "authors": "Koscielny G, Yaikhom G, Iyer V, Meehan TF, Morgan H, Atienza-Herrero J, Blake A, Chen CK, Easty R, Di Fenza A, Fiegel T, Grifiths M, Horne A, Karp NA, Kurbatova N, Mason JC, Matthews P, Oakley DJ, Qazi A, Regnart J, Retha A, Santos LA, Sneddon DJ, Warren J, Westerberg H, Wilson RJ, Melvin DG, Smedley D, Brown SD, Flicek P, Skarnes WC, Mallon AM, Parkinson H", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/27626380", "type": [ "PubMed" ], "id": "27626380" } ], "title": "High-throughput discovery of novel developmental phenotypes.", "journal": "Nature", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780495.2", "id": "NP_780495.2", "database": "RefSeq" } ], "authors": "Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M, Murray SA", "date": "2016" } ], "uniprot_ac": "A2AI08", "site_annotation": [ { "end_pos": 179, "annotation": "n_glycosylation_sequon", "start_pos": 177 }, { "end_pos": 253, "annotation": "n_glycosylation_sequon", "start_pos": 251 }, { "end_pos": 336, "annotation": "n_glycosylation_sequon", "start_pos": 334 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AI08#A2AI08-1", "isoform_ac": "A2AI08-1", "locus": { "end_pos": 25262688, "start_pos": 25269415, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000114336", "id": "ENSMUST00000114336", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000109975", "id": "ENSMUSP00000109975", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AI08-1|TPRN_MOUSE Isoform 1 of Taperin OS=Mus musculus OX=10090 GN=Tprn PE=1 SV=1 CANONICAL=A2AI08-1", "length": 749, "sequence": "MAGLGRLDPGPRTVMPAWKREILERRRAKLAALSGGQGSGAAPDGPNERLVLAESLGPLSQNPFMRLESERRRGTRPAQQLLELYCRVPGVRTIRADNILIIESAPGFPPAVPPAAGIRAAEVVVYEAPQPGRVSRLLEKFDSPAAPCRRGSPERFRPALPQLPVASASAATRTPTNRSLAPASPVRLSQPAPPISPVPVAQRAGQRSACCEPAHPDGTAGPGARRSDFLQKTGSNSFTVHPRGLPRSAVNRSLSNGPMTQESPTGPANGLSGSPPVPGKWKPKVESKEPSLHPPPSPGTPSATSVGPPAFPAPSPASATPSQRQWVSSATSANDSFEIRPSSKPDMETIPIGDLQARALANLRVNSRNSFVLIPKRKAPGNYPLAGRQFEEPKGEVGWASQSQGLGSQLVSTVDGAPALEKSPLAAEMQWAVRKGACPRPAISDTDKCVRWQRPASPPPFLPATAEAEPAEGLGVPGLAKNGQEPVRPGLPVTFIDEVDSEEEAFQEAKLPSSAVGVPSQYHLHPARPGHTSELLNRGSNTFTVVPKRKPGTLQEPHLSQTNGQSQQGAEEQDAESLSGPHTTLENTLKKRYPTVHEIEVIGGYLALQKSCLIKAGSSRKKMKISFNDKSLHTTFEYPSESSLAQEEAEEEEEEEGEEDGEEEEVGPDSEKPFTVFLPRATFVSSVGPESSSGLSSYTPKHSMAFSKWQEQTLVQTPTDVELPPKEVMLTPASQNDLSDFRSEPALYF" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:97031", "resource": "KEGG Pathway", "id": "mmu:97031", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780495.2", "annotation": "Taperin plays an important role in maintenance of hair cell stereocilia.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780495.2", "id": "NP_780495.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q4KMQ1-1", "protein_name": "Taperin", "sequence": { "length": 711, "sequence": "MAALGRPGSGPRAAVPAWKREILERKRAKLAALGGGAGPGAAEPEQRVLAESLGPLRENPFMLLEAERRRGGGAAGARLLERYRRVPGVRALRADSVLIIETVPGFPPAPPAPGAAQIRAAEVLVYGAPPGRVSRLLERFDPPAAPRRRGSPERARPPPPPPPPAPPRPPPAAPSPPAAPGPRGGGASPGARRSDFLQKTGSNSFTVHPRGLHRGAGARLLSNGHSAPEPRAGPANRLAGSPPGSGQWKPKVESGDPSLHPPPSPGTPSATPASPPASATPSQRQCVSAATSTNDSFEIRPAPKPVMETIPLGDLQARALASLRANSRNSFMVIPKSKASGAPPPEGRQSVELPKGDLGPASPSQELGSQPVPGGDGAPALGKSPLEVEAQWAVEEGACPRTATALADRAIRWQRPSSPPPFLPAASEEAEPAEGLRVPGLAKNSREYVRPGLPVTFIDEVDSEEAPQAAKLPYLPHPARPLHPARPGCVAELQPRGSNTFTVVPKRKPGTLQDQHFSQANREPRPREAEEEEASCLLGPTLKKRYPTVHEIEVIGGYLALQKSCLTKAGSSRKKMKISFNDKSLQTTFEYPSESSLEQEEEVDQQEEEEEEEEEEEEEEEGSGSEEKPFALFLPRATFVSSVRPESSRLPEGSSGLSSYTPKHSVAFSKWQEQALEQAPREAEPPPVEAMLTPASQNDLSDFRSEPALYF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/52156", "id": "52156", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2AI08/", "id": "A2AI08", "database": "OMA" } ], "common_name": "man", "organism": "Homo sapiens", "tax_id": 9606 }, { "uniprot_canonical_ac": "Q5XHX2-1", "protein_name": "Taperin", "sequence": { "length": 753, "sequence": "MAGLGRLDPGPRTVMPAWKREILERRRAKLAALSGGPGSGAAPDGPNERLVLAESLGPLSQNPFMRLESERRRGARPAQQLLELYCRVPGVRTIRADNILIIESAPGFPPAVPPASSIRAAEVVVYEEPQPGRVSRLLEKFDSPAAPRRRGSPERFRPALPQLPVAPASAATRAPTNRSLAPAPPVLPSQPAPPISPVPVAQRAGQRSACCEPAHPDGTAGPGARRSDFLQKTGSNSFTVHPRGLPGSAVNRSLSNGPMTQESPAGPANGLSGSPPVPGKWKPKVESKEPSLHPPPSPGTPSATPVGPPAFLAPSPASATPSQRQWVSSATSANDSFEIRPSSKPDMETIPIGDLQARALANLRVNSRNSFVLIPKRKAPGNYPSAAGRQFEEPKGEVGWASQSQGLGSQLVSTVDGAPALEKSSLAAEMQWAVREGGCPRPAISDTDKSVRRQRPASPPPFLPATTEAEPAEGLGVPGLTKNGQEPVRPGLPVTFIDEVDSEEAAFQEAKLPSSAVGVPSQYHLHPSTPGHTSELLNRGSNTFTVVPKRKPGTLQEPHLSQTNGQFQQGAEEQDADSLSGPHTTLENALKKRYPTVNEIEVIGGYLALQKSCLIKAGSSRKKMKISFNDKSLHTTFEYPSESSLAQEEAEEEEEEEEEEEGEDGEEEEVGPDSEKSFTVLLPRATFVSSVGPESSSGLSSYTPKHSMAFSKWQEQTLVQAPTEVELPPKEVMLTPASQNDLSDFRSEPALYF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/52156", "id": "52156", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A2AI08/", "id": "A2AI08", "database": "OMA" } ], "common_name": "rats", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_780495.2", "ac": "NP_780495.2", "name": "taperin", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019902", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "name": "phosphatase binding", "id": "GO:0019902" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "pmid": "20170899", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "name": "stereocilium", "id": "GO:0032420" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032420", "pmid": "27269051", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "name": "stereocilium", "id": "GO:0032420" } ], "total": 2, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "pmid": "27693694", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "name": "sensory perception of sound", "id": "GO:0007605" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120045", "pmid": "27693694", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "name": "stereocilium maintenance", "id": "GO:0120045" } ], "total": 2, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "type": "recommended", "resource": "UniProtKB", "name": "Tprn" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AI08", "type": "synonym", "resource": 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"https://www.ebi.ac.uk/interpro/entry/IPR025907", "id": "IPR025907", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF13914", "id": "PF13914", "database": "Pfam" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/97031", "id": "97031", "database": "GeneID" }, { "url": "https://omabrowser.org/oma/group/VEEGACP/", "id": "VEEGACP", "database": "OMA" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000048707", "id": "ENSMUSG00000048707", "database": "Bgee" }, { "url": "http://www.informatics.jax.org/marker/MGI:2139535", "id": "2139535", "database": "MGI" }, { "url": "http://www.orthodb.org/?query=732540at2759", "id": "732540at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF13916", "id": "PF13916", "database": "Pfam" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:97031", "id": "mmu:97031", "database": "KEGG Pathway" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [], "phosphorylation": [ { "residue": "Ser", "position": "501", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19144319", "id": "19144319", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21183079", "id": "21183079", "database": "PubMed" } ], "kinase_uniprot_canonical_ac": "Q3UD01-1", "kinase_gene_name": "Atxn7l3b" }, { "residue": "Ser", "position": "457", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19144319", "id": "19144319", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21183079", "id": "21183079", "database": "PubMed" } ], "kinase_uniprot_canonical_ac": "Q3UD01-1", "kinase_gene_name": "Atxn7l3b" }, { "residue": "Ser", "position": "274", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "" }, { "residue": "Ser", "position": "501", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "" }, { "residue": "Ser", "position": "401", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "" }, { "residue": "Ser", "position": "457", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "id": "A2AI08", "database": "UniProtKB" } ], "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "" } ], "mass": { "monoisotopic_mass": 80089.0, "chemical_mass": 80089.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "name": "Tprn", "locus": { "end_pos": 25269885, "start_pos": 25262618, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000048707", "id": "ENSMUSG00000048707", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2AI08", "type": "recommended", "resource": "UniProtKB", "name": "Taperin" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AI08", "type": "synonym", "resource": "RefSeq", "name": "taperin" } ] }