{ "uniprot_canonical_ac": "A2AQP0-1", "ptm_annotation": [], "sequence": { "header": "sp|A2AQP0-1|MYH7B_MOUSE Isoform 1 of Myosin-7B OS=Mus musculus OX=10090 GN=Myh7b PE=3 SV=1 CANONICAL=A2AQP0-1", "length": 1941, "sequence": "MMDMSELGESACYLRQGYQEMMKVHTVPWDGKKRVWVPDEQDAYVEAEVKTEATGGKVTVETKDQKVLTVRETEMQPMNPPRFDLLEDMAMMTHLNEAAVLHNLRQRYARWMIYTYSGLFCVTINPYKWLPVYTAAVVAAYKGKRRSEAPPHIYAVADNAYNDMLRNRENQSMLITGESGAGKTVNTKRVIQYFAIVAALGDGPGKKAQFLATKTGGTLEDQIIEANPAMEAFGNAKTLRNDNSSRFGKFIRIHFGPTGKLASADIDSYLLEKSRVIFQLPGERGYHVYYQILSGKKPELQDMLLLSMNPYDYHFCSQGVTTVDNMDDGEELIATDHAMDILGFSVDEKCACYKIVGALLHFGNMKFKQKQREEQAEADGTESADKAAYLMGVSSGDLLKGLLHPRVRVGNEYVTKGQSVEQVVFAVGALAKATYDRLFRWLVSRINQTLDTKLPRQFFIGVLDIAGFEIFEFNSFEQLCINFTNEKLQQFFNQHMFVLEQEEYKREGIDWVFIDFGLDLQPCIDLIEKPLGILSILEEECMFPKASDASFRAKLYDNHSGKSPNFQQPRPDKKRKYQAHFEVVHYAGVVPYSIVGWLEKNKDPLNETVVPIFQKSQNRLLATLYENYAGSCSTEPPKSGVKEKRKKAASFQTVSQLHKENLNKLMTNLRATQPHFVRCIVPNENKTPGVMDSFLVLHQLRCNGVLEGIRICRQGFPNRLLYADFRQRYRILNPSAIPDDTFVDSRKATEKLLGSLDIDHTQYQFGHTKVFFKAGLLGILEELRDQRLAKVLTLLQARSRGRLMRLEYQRMLGGRDALFTIQWNIRAFNAVKNWSWMKLFFKMKPLLRSAQAEEELAALRAELRGLRGALATAEAKRQELEETQVSVTQEKNDLALQLQAEQDNLADAEERCHLLIKSKVQLEAKVKELSERLEDEEEVNADLAARRRKLEDECTELKKDIDDLELTLAKAEKEKQATENKVKNLTEEMAALDEAVVRLTKEKKALQEAHQQALGDLQAEEDRVSALAKAKIRLEQQVEDLECSLEQEKKLRMDTERAKRKLEGDLKLTQETVTDTTQDKQQLEEKLKKKDSELSQLNLRVEDEQLVGVQLQKKIKELQARAEELEEELEAERAARARVEKQRAEAARELEELSERLEEAGGASAGQREGCRKREAELGRLRRELEEAVLRHEATVAALRRKQADSAAELSEQVDSLQRIRQKLEKEKSELRMEVDDLGASVETLARGKASAEKLCRTYEDQLSEAKIKVEELQRQLADASTQRGRLQTENGELGRLLEEKESMISQLSRGKTSAAQSLEELRRQLEEESKAKGALAHAVQALRHDCDLLREQHEEESEAQAELQRLLSKANAEVAQWRSKYEADAIQRTEELEEAKKKLALRLQEAEEGVEAANAKCSSLEKAKLRLQTESEDVTLELERATSAAAALDKKQRHLERALEERRRQEEEMQRELEAAQREARGLGTELFRLRHSHEEALEALETLKRENKNLQEEISDLTDQVSLSGKSIQELEKAKKALEGEKSELQAALEEAEGALELEETKTLRIQLELSQVKAEVDRKLAEKDEECTNLRRNHQRAVESLQASLDAETRARNEALRLKKKMEGDLNDLELQLGHATRQAMEAQAATRLLQAQLKEEQAGRDEEQRLAAELREQGQALERRAALLAAELEELRAALEQGERSRRLAEQELLEATERLNLLHSQNTGLLNQKKKLEVDLAQLSGEVEEAAQERREAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKTLEQTVRELQARLEEAEQAALRGGKKQVQKLEAKVRELEAELDAEQKKHAEALKGVRKHERRVKELVYQTEEDRKNLARMQDLVDKLQSKVKSYKRQFEEAEQQASTNLAKYRKAQHELDDAEERADMAETQANKLRARSRDALGPKHKE" }, "uniprot_id": "MYH7B_MOUSE", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0", "id": "A2AQP0", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12819125", "type": [ "PubMed" ], "id": "12819125" } ], "title": "Targeting a complex transcriptome: the construction of the mouse full-length cDNA encyclopedia.", "journal": "Genome research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" } ], "authors": "Carninci P, Waki K, Shiraki T, Konno H, Shibata K, Itoh M, Aizawa K, Arakawa T, Ishii Y, Sasaki D, Bono H, Kondo S, Sugahara Y, Saito R, Osato N, Fukuda S, Sato K, Watahiki A, Hirozane-Kishikawa T, Nakamura M, Shibata Y, Yasunishi A, Kikuchi N, Yoshiki A, Kusakabe M, Gustincich S, Beisel K, Pavan W, Aidinis V, Nakagawara A, Held WA, Iwata H, Kono T, Nakauchi H, Lyons P, Wells C, Hume DA, Fagiolini M, Hensch TK, Brinkmeier M, Camper S, Hirota J, Mombaerts P, Muramatsu M, Okazaki Y, Kawai J, Hayashizaki Y", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19948655", "type": [ "PubMed" ], "id": "19948655" } ], "title": "Two novel/ancient myosins in mammalian skeletal muscles: MYH14/7b and MYH15 are expressed in extraocular muscles and muscle spindles.", "journal": "The Journal of physiology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" } ], "authors": "Rossi AC, Mammucari C, Argentini C, Reggiani C, Schiaffino S", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20154144", "type": [ "PubMed" ], "id": "20154144" } ], "title": "Uncoupling of expression of an intronic microRNA and its myosin host gene by exon skipping.", "journal": "Molecular and cellular biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" } ], "authors": "Bell ML, Buvoli M, Leinwand LA", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/21985497", "type": [ "PubMed" ], "id": "21985497" } ], "title": "Genome-wide mapping of Sox6 binding sites in skeletal muscle reveals both direct and indirect regulation of muscle terminal differentiation by Sox6.", "journal": "BMC developmental biology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" } ], "authors": "An CI, Dong Y, Hagiwara N", "date": "2011" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22422726", "type": [ "PubMed" ], "id": "22422726" } ], "title": "Developmental expression and cardiac transcriptional regulation of Myh7b, a third myosin heavy chain in the vertebrate heart.", "journal": "Cytoskeleton (Hoboken, N.J.)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" } ], "authors": "Warkman AS, Whitman SA, Miller MK, Garriock RJ, Schwach CM, Gregorio CC, Krieg PA", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22638570", "type": [ "PubMed" ], "id": "22638570" } ], "title": "Myh7b/miR-499 gene expression is transcriptionally regulated by MRFs and Eos.", "journal": "Nucleic acids research", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" } ], "authors": "Yeung F, Chung E, Guess MG, Bell ML, Leinwand LA", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/23417056", "type": [ "PubMed" ], "id": "23417056" } ], "title": "Early de novo DNA methylation and prolonged demethylation in the muscle lineage.", "journal": "Epigenetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" } ], "authors": "Tsumagari K, Baribault C, Terragni J, Varley KE, Gertz J, Pradhan S, Badoo M, Crain CM, Song L, Crawford GE, Myers RM, Lacey M, Ehrlich M", "date": "2013" } ], "uniprot_ac": "A2AQP0", "site_annotation": [ { "end_pos": 172, "annotation": "n_glycosylation_sequon", "start_pos": 170 }, { "end_pos": 245, "annotation": "n_glycosylation_sequon", "start_pos": 243 }, { "end_pos": 449, "annotation": "n_glycosylation_sequon", "start_pos": 447 }, { "end_pos": 484, "annotation": "n_glycosylation_sequon", "start_pos": 482 }, { "end_pos": 560, "annotation": "n_glycosylation_sequon", "start_pos": 558 }, { "end_pos": 608, "annotation": "n_glycosylation_sequon", "start_pos": 606 }, { "end_pos": 687, "annotation": "n_glycosylation_sequon", "start_pos": 685 }, { "end_pos": 835, "annotation": "n_glycosylation_sequon", "start_pos": 833 }, { "end_pos": 986, "annotation": "n_glycosylation_sequon", "start_pos": 984 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0#A2AQP0-1", "isoform_ac": "A2AQP0-1", "locus": { "end_pos": 155611658, "strand": "-", "start_pos": 155634088, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000092995", "id": "ENSMUST00000092995", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000090672", "id": "ENSMUSP00000090672", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2AQP0-1|MYH7B_MOUSE Isoform 1 of Myosin-7B OS=Mus musculus OX=10090 GN=Myh7b PE=3 SV=1 CANONICAL=A2AQP0-1", "length": 1941, "sequence": "MMDMSELGESACYLRQGYQEMMKVHTVPWDGKKRVWVPDEQDAYVEAEVKTEATGGKVTVETKDQKVLTVRETEMQPMNPPRFDLLEDMAMMTHLNEAAVLHNLRQRYARWMIYTYSGLFCVTINPYKWLPVYTAAVVAAYKGKRRSEAPPHIYAVADNAYNDMLRNRENQSMLITGESGAGKTVNTKRVIQYFAIVAALGDGPGKKAQFLATKTGGTLEDQIIEANPAMEAFGNAKTLRNDNSSRFGKFIRIHFGPTGKLASADIDSYLLEKSRVIFQLPGERGYHVYYQILSGKKPELQDMLLLSMNPYDYHFCSQGVTTVDNMDDGEELIATDHAMDILGFSVDEKCACYKIVGALLHFGNMKFKQKQREEQAEADGTESADKAAYLMGVSSGDLLKGLLHPRVRVGNEYVTKGQSVEQVVFAVGALAKATYDRLFRWLVSRINQTLDTKLPRQFFIGVLDIAGFEIFEFNSFEQLCINFTNEKLQQFFNQHMFVLEQEEYKREGIDWVFIDFGLDLQPCIDLIEKPLGILSILEEECMFPKASDASFRAKLYDNHSGKSPNFQQPRPDKKRKYQAHFEVVHYAGVVPYSIVGWLEKNKDPLNETVVPIFQKSQNRLLATLYENYAGSCSTEPPKSGVKEKRKKAASFQTVSQLHKENLNKLMTNLRATQPHFVRCIVPNENKTPGVMDSFLVLHQLRCNGVLEGIRICRQGFPNRLLYADFRQRYRILNPSAIPDDTFVDSRKATEKLLGSLDIDHTQYQFGHTKVFFKAGLLGILEELRDQRLAKVLTLLQARSRGRLMRLEYQRMLGGRDALFTIQWNIRAFNAVKNWSWMKLFFKMKPLLRSAQAEEELAALRAELRGLRGALATAEAKRQELEETQVSVTQEKNDLALQLQAEQDNLADAEERCHLLIKSKVQLEAKVKELSERLEDEEEVNADLAARRRKLEDECTELKKDIDDLELTLAKAEKEKQATENKVKNLTEEMAALDEAVVRLTKEKKALQEAHQQALGDLQAEEDRVSALAKAKIRLEQQVEDLECSLEQEKKLRMDTERAKRKLEGDLKLTQETVTDTTQDKQQLEEKLKKKDSELSQLNLRVEDEQLVGVQLQKKIKELQARAEELEEELEAERAARARVEKQRAEAARELEELSERLEEAGGASAGQREGCRKREAELGRLRRELEEAVLRHEATVAALRRKQADSAAELSEQVDSLQRIRQKLEKEKSELRMEVDDLGASVETLARGKASAEKLCRTYEDQLSEAKIKVEELQRQLADASTQRGRLQTENGELGRLLEEKESMISQLSRGKTSAAQSLEELRRQLEEESKAKGALAHAVQALRHDCDLLREQHEEESEAQAELQRLLSKANAEVAQWRSKYEADAIQRTEELEEAKKKLALRLQEAEEGVEAANAKCSSLEKAKLRLQTESEDVTLELERATSAAAALDKKQRHLERALEERRRQEEEMQRELEAAQREARGLGTELFRLRHSHEEALEALETLKRENKNLQEEISDLTDQVSLSGKSIQELEKAKKALEGEKSELQAALEEAEGALELEETKTLRIQLELSQVKAEVDRKLAEKDEECTNLRRNHQRAVESLQASLDAETRARNEALRLKKKMEGDLNDLELQLGHATRQAMEAQAATRLLQAQLKEEQAGRDEEQRLAAELREQGQALERRAALLAAELEELRAALEQGERSRRLAEQELLEATERLNLLHSQNTGLLNQKKKLEVDLAQLSGEVEEAAQERREAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKTLEQTVRELQARLEEAEQAALRGGKKQVQKLEAKVRELEAELDAEQKKHAEALKGVRKHERRVKELVYQTEEDRKNLARMQDLVDKLQSKVKSYKRQFEEAEQQASTNLAKYRKAQHELDDAEERADMAETQANKLRARSRDALGPKHKE" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:668940", "resource": "KEGG Pathway", "id": "mmu:668940", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0#function", "annotation": "Involved in muscle contraction.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0#function", "id": "A2AQP0", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "annotation": "Myh7b, the ortholog of slow myosin 2 (SM2) of frogs and birds, is detected as mRNA in heart, slow muscles and extraocular muscles. MYH7b protein is detected only in a minor fiber population in extraocular muscles, corresponding to slow-tonic fibers.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "annotation": "MyoD and Eos form an active transcriptional complex on the chromatin to regulate the expression of the endogenous Myh7b/miR-499 gene in muscle cells.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A7E2Y1-1", "protein_name": "Myosin-7B", "sequence": { "length": 1983, "sequence": "MSGNKRGSRASCPHRGAECLLPWAALNLQGFQLLLLHPSATAMMDVSELGESARYLRQGYQEMTKVHTIPWDGKKRVWVPDEQDAYVEAEVKSEATGGRVTVETKDQKVLMVREAELQPMNPPRFDLLEDMAMMTHLNEASVLHNLRQRYARWMIYTYSGLFCVTINPYKWLPVYTASVVAAYKGKRRSDSPPHIYAVADNAYNDMLRNRDNQSMLITGESGAGKTVNTKRVIQYFAIVAALGDGPGKKAQFLATKTGGTLEDQIIEANPAMEAFGNAKTLRNDNSSRFGKFIRIHFGPSGKLASADIDSYLLEKSRVIFQLPGERSYHVYYQILSGRKPELQDMLLLSMNPYDYHFCSQGVITVDNMNDGEELIATDHAMDILGFSVDEKCACYKIVGALLHFGNMKFKQKQREEQAEADGTESADKAAYLMGVSSGDLLKGLLHPRVRVGNEYVTKGQSVEQVVFAVGALAKATYDRLFRWLVSRINQTLDTKLPRQFFIGVLDIAGFEIFEFNSFEQLCINFTNEKLQQFFNQHMFVLEQEEYKREGIDWVFIDFGLDLQPCIDLIEKPLGILSILEEECMFPKASDASFRAKLYDNHAGKSPNFQQPRPDKKRKYQAHFEVVHYAGVVPYSIVGWLEKNKDPLNETVVPIFQKSQNRLLATLYENYAGSCSTEPPKSGVKEKRKKAASFQTVSQLHKENLNKLMTNLRATQPHFVRCIVPNENKTPGVMDAFLVLHQLRCNGVLEGIRICRQGFPNRLLYTDFRQRYRILNPSAIPDDTFMDSRKATEKLLGSLDLDHTQYQFGHTKVFFKAGLLGVLEELRDQRLAKVLTLLQARSRGRLMRLEYQRLLGGRDALFTIQWNIRAFNAVKNWSWMKLFFKMKPLLRSAQAEEELAALRAELRGLRGALAAAEAKRQELEETHVSITQEKNDLALQLQAEQDNLADAEERCHLLIKSKVQLEGKVKELSERLEDEEEVNADLAARRRKLEDECTELKKDIDDLELTLAKAEKEKQATENKVKNLTEEMAALDESVARLTKEKKALQEAHQQALGDLQAEEDRVSALTKAKLRLEQQVEDLECSLEQEKKLRMDTERAKRKLEGDLKLTQESVADAAQDKQQLEEKLKKKDSELSQLSLRVEDEQLLGAQMQKKIKELQARAEELEEELEAERAARARVEKQRAEAARELEELSERLEEAGGASAGQREGCRKREAELGRLRRELEEAALRHEATVAALRRKQAEGAAELGEQVDSLQRVRQKLEKEKSELRMEVDDLAANVETLTRAKASAEKLCRTYEDQLSEAKIKVEELQRQLADASTQRGRLQTESGELSRLLEEKECLISQLSRGKALAAQSLEELRRQLEEESKAKSALAHAVQALRHDCDLLREQHEEEAEAQAELQRLLSKANAEVAQWRSKYEADAIQRTEELEEAKKKLALRLQEAEEGVEAANAKCSSLEKAKLRLQTESEDVTLELERATSAAAALDKKQRHLERALEERRRQEEEMQRELEAAQRESRGLGTELFRLRHGHEEALEALETLKRENKNLQEEISDLTDQVSLSGKSIQELEKTKKALEGEKSEIQAALEEAEGALELEETKTLRIQLELSQVKAEVDRKLAEKDEECANLRRNHQRAVESLQASLDAETRARNEALRLKKKMEGDLNDLELQLGHATRQATEAQAATRLMQAQLKEEQAGRDEEQRLAAELHEQAQALERRASLLAAELEELRAALEQGERSRRLAEQELLEATERLNLLHSQNTGLLNQKKKLEADLAQLSGEVEEAAQERREAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKTLEQTVRELQARLEEAEQAALRGGKKQVQKLEAKVRELEAELDAEQKKHAEALKGVRKHERRVKELAYQAEEDRKNLARMQDLVDKLQSKVKSYKRQFEEAEQQANTNLAKYRKAQHELDDAEERADMAETQANKLRARTRDALGPKHKE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/66117", "id": "66117", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "MYH7B", "tax_id": 9606 }, { "uniprot_canonical_ac": "B6RK61-1", "protein_name": "Myosin heavy chain 7B", "sequence": { "length": 1941, "sequence": "MMDMNELGESACYLRQGYQEMMKVHTVPWDGKKRVWVPDEQDAYVEAEVKTEATGGRVTVETKDQKVLTVRETEMQPMNPPRFDLLEDMAMMTHLNEAAVLHNLRQRYARWMIYTYSGLFCVTINPYKWLPVYTATVVAAYKGKRRSEAPPHIYAVADNAYNDMLRNRENQSMLITGESGAGKTVNTKRVIQYFAIVAALGDGPGKKAQFLATKTGGTLEDQIIEANPAMEAFGNAKTLRNDNSSRFGKFIRIHFGPTGKLASADIDSYLLEKSRVIFQLPGERGYHVYYQILSGKKPELQDMLLLSMNPYDYHFCSQGVTTVDNMNDGEELIATDHAMDILGFSVDEKCACYKIVGALLHFGNMKFKQKQREEQAEADGTESADKAAYLMGVSSGDLLKGLLHPRVRVGNEYVTKGQSVEQVVFAVGALAKATYDRLFRWLVSRINQTLDTKLPRQFFIGVLDIAGFEIFEFNSFEQLCINFTNEKLQQFFNQHMFVLEQEEYKREGIDWVFIDFGLDLQPCIDLIEKPLGILSILEEECMFPKASDASFRAKLYDNHSGKSPNFQQPRPDKKRKYQAHFEVVHYAGVVPYSIVGWLEKNKDPLNETVVPIFQKSQNRLLATLYENYAGSCSTEPPKSGVKEKRKKAASFQTVSQLHKENLNKLMTNLRATQPHFVRCIVPNENKTPGVMDSFLVLHQLRCNGVLEGIRICRQGFPNRLLYADFRQRYRILNPSAIPDDTFVDSRKATEKLLGSLDIDHTQYQFGHTKVFFKAGLLGILEELRDQRLAKVLTLLQARSRGRLMRLEYQRMLGGRDALFTIQWNIRAFNAVKNWSWMKLFFKMKPLLRSAQAEEELAALRAELRGLRGALATAEAKRQELEETQVSVTQEKNDLALQLQAEQDNLADAEERCHLLIKSKVQLEAKVKELNERLEDEEEVNADLAARRRKLEDECTELKKDIDDLELTLAKAEKEKQATENKVKNLTEEMAALDESVVRLTKEKKALQEAHQQALGDLQAEEDRVSALAKAKIRLEQQVEDLECSLEQEKKLRMDTERAKRKLEGDLKLTQETVTDTTQDKQQLEEKLKKKDSELSQLSLRVEDEQLLGAQLQKKIKELQARAEELEEELEAERAARARVEKQRAEAARELEELSERLEEAGGASAGQREGCRKREAELGRLRRELEETVLRHEATVAALRRKQADSAAELSEQVDSLQRIRQKLEKEKSELRMEVDDLGASVETLARGKASAEKLCRTYEDQLSEAKIKVEELQRQLTDASTQRGRLQTENGELGRLLEEKESMISQLSRGKTSAAQSLEELRRQLEEESKAKGALAHAVQALRHDCDLLREQHEEESEAQAELQRLLSKANAEVAQWRSKYEADAIQRTEELEEAKKKLALRLQEAEEGVEAANAKCSSLEKAKLRLQTESEDVTLELERATSAAAALDKKQRHLERALEERRRQEEEMQRELEAAQREARGLGTELFRLRHSHEEALEALETLKRENKNLQEEISDLTDQVSLSGKSIQELEKAKKALEGEKSELQAALEEAEGALELEETKTLRIQLELSQVKAEVDRKLAEKDEECTNLRRNHQRAVESLQASLDAETRARNEALRLKKKMEGDLNDLELQLGHATRQAMEAQAATRLLQAQLKEEQAGRDEEQRLAAELREQGQALERRAALLASELEELRAALEQGERSRRLAEQELLEATERLNLLHSQNTGLLNQKKKLEVDLAQLSGEVEEAAQERREAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKTLEQTVRELQARLEEAEQAALRGGKKQVQKLEAKVRELEAELDAEQKKHAEALKGVRKHERRVKELAYQTEEDRKNLARMQDLVDKLQSKVKSYKRQFEEAEQQASTNLAKYRKAQHELDDAEERADMAETQANKLRARSRDALGPKHKE" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2AQP0/", "id": "A2AQP0", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/66117", "id": "66117", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Myh7b", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "ac": "NP_001078847.1", "name": "myosin-7B", "summary": "This gene encodes a myosin heavy chain. The encoded protein forms a hexamer comprised of two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. [provided by RefSeq, Jun 2013]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005524", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0", "id": "A2AQP0", "database": "UniProtKB" } ], "name": "ATP binding", "id": "GO:0005524" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051015", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0", "id": "A2AQP0", "database": "UniProtKB" } ], "name": "actin filament binding", "id": "GO:0051015" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003774", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0", "id": "A2AQP0", "database": "UniProtKB" } ], "name": "motor activity", "id": "GO:0003774" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097512", "pmid": "22422726", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0", "id": "A2AQP0", "database": "UniProtKB" } ], "name": "cardiac myofibril", "id": "GO:0097512" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0", "id": "A2AQP0", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032982", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0", "id": "A2AQP0", "database": "UniProtKB" } ], "name": "myosin filament", "id": "GO:0032982" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016459", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0", "id": "A2AQP0", "database": "UniProtKB" } ], "name": "myosin complex", "id": "GO:0016459" } ], "total": 4, "name": "Cellular Component" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AQP0", "type": "synonym", "resource": "RefSeq", "name": "Myh14" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AQP0", "type": "synonym", "resource": "RefSeq", "name": "Myh7b" }, { "url": "https://www.uniprot.org/uniprot/A2AQP0", "type": "recommended", "resource": "UniProtKB", "name": "Myh7b" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000074652", "id": "ENSMUSG00000074652", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/668940", "id": "668940", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000048", "id": "IPR000048", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001609", "id": "IPR001609", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR002928", "id": "IPR002928", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004009", "id": "IPR004009", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR008989", "id": "IPR008989", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027401", "id": "IPR027401", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR027417", "id": "IPR027417", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036961", "id": "IPR036961", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:668940", "id": "mmu:668940", "database": "KEGG Pathway" }, { "url": "http://www.informatics.jax.org/marker/MGI:3710243", "id": "3710243", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/FDIMGFE/", "id": "FDIMGFE", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=47111at2759", "id": "47111at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00063", "id": "PF00063", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF01576", "id": "PF01576", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF02736", "id": "PF02736", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A2AQP0", "id": "PR_A2AQP0", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001078847.1", "id": "NP_001078847.1", "database": "RefSeq" }, { "url": "https://www.uniprot.org/uniprot/A2AQP0", "id": "A2AQP0", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0007364", "url": "https://monarchinitiative.org/disease/MONDO:0007364", "resource": "MONDO", "name": "arthrogryposis, distal, type 2E", "description": "" }, { "id": "MONDO:0007364", "url": "https://monarchinitiative.org/disease/MONDO:0007364", "resource": "MONDO", "name": "contractures of fingers and jaw", "description": "" }, { "id": "DOID:0050646", "url": "http://disease-ontology.org/term/DOID:0050646", "resource": "Disease Ontology", "name": "Arthrogryposis Multiplex Congenita", "description": "" }, { "id": "DOID:0050646", "url": "http://disease-ontology.org/term/DOID:0050646", "resource": "Disease Ontology", "name": "Freeman-Sheldon syndrome", "description": "" } ], "recommended_name": { "id": "DOID:0050646", "url": "http://disease-ontology.org/term/DOID:0050646", "resource": "Disease Ontology", "name": "distal arthrogryposis", "description": "A muscle tissue disease characterized by congenital joint contractures of hand and feet." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0050646#disease-associations", "id": "0050646", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0009710", "url": "https://monarchinitiative.org/disease/MONDO:0009710", "resource": "MONDO", "name": "myotonia congenita", "description": "" }, { "id": "MONDO:0009710", "url": "https://monarchinitiative.org/disease/MONDO:0009710", "resource": "MONDO", "name": "Thomsen's disease", "description": "" }, { "id": "MONDO:0009710", "url": "https://monarchinitiative.org/disease/MONDO:0009710", "resource": "MONDO", "name": "myopathy, congenital", "description": "" }, { "id": "MONDO:0009710", "url": "https://monarchinitiative.org/disease/MONDO:0009710", "resource": "MONDO", "name": "Thomsen and Becker disease", "description": "" }, { "id": "MONDO:0009710", "url": "https://monarchinitiative.org/disease/MONDO:0009710", "resource": "MONDO", "name": "congenital myotonia, autosomal dominant form", "description": "" }, { "id": "MONDO:0009710", "url": "https://monarchinitiative.org/disease/MONDO:0009710", "resource": "MONDO", "name": "batten-Turner congenital myopathy", "description": "" }, { "id": "MONDO:0009710", "url": "https://monarchinitiative.org/disease/MONDO:0009710", "resource": "MONDO", "name": "Thomsen disease", "description": "" }, { "id": "DOID:0080100", "url": "http://disease-ontology.org/term/DOID:0080100", "resource": "Disease Ontology", "name": "Batten Turner congenital myopathy", "description": "" } ], "recommended_name": { "id": "DOID:0080100", "url": "http://disease-ontology.org/term/DOID:0080100", "resource": "Disease Ontology", "name": "congenital myopathy", "description": "A myopathy that is characterized by the lack of muscle tone or floppiness at birth." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0080100#disease-associations", "id": "0080100", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0008647", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "resource": "MONDO", "name": "hypertrophic cardiomyopathy 1", "description": "" }, { "id": "MONDO:0008647", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "resource": "MONDO", "name": "asymmetric septal Hypertrophy", "description": "" }, { "id": "MONDO:0008647", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "resource": "MONDO", "name": "cardiomyopathy, familial hypertrophic, type 1", "description": "" }, { "id": "MONDO:0008647", "url": "https://monarchinitiative.org/disease/MONDO:0008647", "resource": "MONDO", "name": "cardiomyopathy, familial 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"url": "https://www.alliancegenome.org/gene/0080326#disease-associations", "id": "0080326", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0008675", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "resource": "MONDO", "name": "freeman-Sheldon syndrome", "description": "" }, { "id": "MONDO:0008675", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "resource": "MONDO", "name": "Craniocarpotarsal dystrophy", "description": "" }, { "id": "MONDO:0008675", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "resource": "MONDO", "name": "whistling-face syndrome", "description": "" }, { "id": "MONDO:0008675", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "resource": "MONDO", "name": "whistling face syndrome", "description": "" }, { "id": "MONDO:0008675", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "resource": "MONDO", "name": "cranio-carpo-tarsal syndrome", "description": "" }, { "id": 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"https://monarchinitiative.org/disease/MONDO:0008675", "resource": "MONDO", "name": "freeman Sheldon syndrome", "description": "" }, { "id": "MONDO:0008675", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "resource": "MONDO", "name": "arthrogryposis, distal, type 2A", "description": "" }, { "id": "MONDO:0008675", "url": "https://monarchinitiative.org/disease/MONDO:0008675", "resource": "MONDO", "name": "whistling face-windmill vane hand syndrome", "description": "" }, { "id": "DOID:0111605", "url": "http://disease-ontology.org/term/DOID:0111605", "resource": "Disease Ontology", "name": "DA2A", "description": "" }, { "id": "DOID:0111605", "url": "http://disease-ontology.org/term/DOID:0111605", "resource": "Disease Ontology", "name": "distal arthrogryposis type 2A (Freeman-Sheldon)", "description": "" } ], "recommended_name": { "id": "DOID:0111605", "url": "http://disease-ontology.org/term/DOID:0111605", "resource": "Disease Ontology", "name": "distal arthrogryposis type 2A", "description": "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in MYH3 on chromosome 17p13.1." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0111605#disease-associations", "id": "0111605", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:11720", "url": "http://disease-ontology.org/term/DOID:11720", "resource": "Disease Ontology", "name": "Miyoshi muscular dystrophy", "description": "" }, { "id": "DOID:11720", "url": "http://disease-ontology.org/term/DOID:11720", "resource": "Disease Ontology", "name": "distal muscular dystrophy", "description": "" } ], "recommended_name": { "id": "DOID:11720", "url": "http://disease-ontology.org/term/DOID:11720", "resource": "Disease Ontology", "name": "distal myopathy", "description": "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/11720#disease-associations", "id": "11720", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "IBM2", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "inclusion body myopathy 3", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "IBM", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "inclusion body myopathy 2", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "HIBM", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "distal myopathy with rimmed vacuoles (DMRV)", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "distal myopathy, Nonaka type", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "IBM-3", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "sIBM", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "distal myopathy with rimmed vacuoles", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "inflammatory myopathy", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "Nonaka myopathy", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "sporadic inclusion body myositis", "description": "" }, { "id": "MONDO:0007827", "url": "https://monarchinitiative.org/disease/MONDO:0007827", "resource": "MONDO", "name": "hereditary inclusion body myopathy", "description": "" } ], "recommended_name": { "id": "DOID:3429", "url": "http://disease-ontology.org/term/DOID:3429", "resource": "Disease Ontology", "name": "inclusion body myositis", "description": "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3429#disease-associations", "id": "3429", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0007270", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "resource": "MONDO", "name": "cardiomyopathy, familial restrictive, 1", "description": "" }, { "id": "MONDO:0007270", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "resource": "MONDO", "name": "cardiomyopathy, familial restrictive, 1; RCM1", "description": "" }, { "id": "MONDO:0007270", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "resource": "MONDO", "name": "RCM1", "description": "" }, { "id": "MONDO:0007270", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "resource": "MONDO", "name": "familial isolated restrictive cardiomyopathy caused by mutation in TNNI3", "description": "" }, { "id": "MONDO:0007270", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "resource": "MONDO", "name": "cardiomyopathy, familial restrictive, type 1", "description": "" }, { "id": "MONDO:0007270", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "resource": "MONDO", "name": "Rcm", "description": "" }, { "id": "MONDO:0007270", "url": "https://monarchinitiative.org/disease/MONDO:0007270", "resource": "MONDO", "name": "TNNI3 familial isolated restrictive cardiomyopathy", "description": "" }, { "id": "DOID:397", "url": "http://disease-ontology.org/term/DOID:397", "resource": "Disease Ontology", "name": "Cardiomyopathy, constrictive", "description": "" }, { "id": "DOID:397", "url": "http://disease-ontology.org/term/DOID:397", "resource": "Disease Ontology", "name": "primary restrictive cardiomyopathy", "description": "" } ], "recommended_name": { "id": "DOID:397", "url": "http://disease-ontology.org/term/DOID:397", "resource": "Disease Ontology", "name": "restrictive cardiomyopathy", "description": "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/397#disease-associations", "id": "397", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:423", "url": "http://disease-ontology.org/term/DOID:423", "resource": "Disease Ontology", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/423#disease-associations", "id": "423", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 221497.0, "chemical_mass": 221497.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0", "name": "Myh7b", "locus": { "end_pos": 155634307, "strand": "+", "start_pos": 155611212, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000074652", "id": "ENSMUSG00000074652", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A2AQP0#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Myosin cardiac muscle beta chain" }, { "url": "https://www.uniprot.org/uniprot/A2AQP0#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Myosin heavy chain 7B, cardiac muscle beta isoform" }, { "url": "https://www.uniprot.org/uniprot/A2AQP0#names_and_taxonomy", "type": "recommended", "resource": "UniProtKB", "name": "Myosin-7B" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A2AQP0", "type": "synonym", "resource": "RefSeq", "name": "myosin-7B" } ] }