{ "uniprot_canonical_ac": "A1A5Q0-1", "ptm_annotation": [], "sequence": { "header": "sp|A1A5Q0-1|LMOD2_RAT Isoform 1 of Leiomodin-2 OS=Rattus norvegicus OX=10116 GN=Lmod2 PE=1 SV=1 CANONICAL=A1A5Q0-1", "length": 549, "sequence": "MSTFGYRRGLSKYESIDEDELLASLTAEELKELERELEDIEPDRNLPVGLRQKSLTEKTPTGNFSREALMAYWEKESQKLLEKERLGECGKLAEEDKEESEEELIFTESNSEVSEEVCTEEEEESTEEEEEEEEEDSEEEEVTTEVTKHINGTVSHNGVNPDNSKPKTFKSQIENINLTNGNSGGTQRNTESPAAIHPCGNPTVIEDALEKIKNNDPDTTEVNLNNIENITTQTLSRFAEALKENTVVKTFSLANTHADDAAAIAIAEMLKVNEHITSVNVESNFITGKGILAIMRALQHNTVLTELRFHNQRHIMGSQVEMEIVKLLKENTTLLRLGYHFELPGPRMSMTSILTRNMDKQRQKRMQEQKQQEGHDGGATLRTKVWQRGTPGSSPYASPRQSPWSSPKVSKKVHTGRSRPPSPVAPPPPPPPPPLPPHMLPPPPPPPAPPLPGKKLITRNIAEVIKQQESAQRALQNGQRKKKGKKVKKQPNNILKEIKNSLRSVQEKKMEESSRPSTPQRSAHENLMEAIRGSSIRQLRRVEVPEALR" }, "uniprot_id": "LMOD2_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/18403713", "type": [ "PubMed" ], "id": "18403713" } ], "title": "Leiomodin is an actin filament nucleator in muscle cells.", "journal": "Science", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "id": "NP_001094434.1", "database": "RefSeq" } ], "authors": "Lappalainen P., Dominguez R., Hayes D.B., Boczkowska M., Rebowski G., Pollard T.D., Fujiwara I., Chereau D., Skwarek-Maruszewska A.", "date": "2008" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19254430", "type": [ "PubMed" ], "id": "19254430" } ], "title": "Developmentally regulated and thalamus-selective induction of leiomodin2 gene by a schizophrenomimetic, phencyclidine, in the rat.", "journal": "The international journal of neuropsychopharmacology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "id": "NP_001094434.1", "database": "RefSeq" } ], "authors": "Takebayashi H, Yamamoto N, Umino A, Nishikawa T", "date": "2009" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20685966", "type": [ "PubMed" ], "id": "20685966" } ], "title": "Different localizations and cellular behaviors of leiomodin and tropomodulin in mature cardiomyocyte sarcomeres.", "journal": "Mol. Biol. Cell", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "id": "NP_001094434.1", "database": "RefSeq" } ], "authors": "Lappalainen P., Dominguez R., Boczkowska M., Kremneva E., Skwarek-Maruszewska A., Svitkina T., Zajac A.L.", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "type": [ "PubMed" ], "id": "22673903" } ], "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nat. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "authors": "Olsen J.V., Lage K., Secher A., Dmytriyev A., Lundby A., Lundby C., Nordsborg N.B.", "date": "2012" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25250574", "type": [ "PubMed" ], "id": "25250574" } ], "title": "Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.", "journal": "The Journal of clinical investigation", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "id": "NP_001094434.1", "database": "RefSeq" } ], "authors": "Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerriere A, Gregorio CC, Ottenheijm CA, Bonnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF", "date": "2014" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26370058", "type": [ "PubMed" ], "id": "26370058" } ], "title": "How Leiomodin and Tropomodulin use a common fold for different actin assembly functions.", "journal": "Nature communications", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "id": "NP_001094434.1", "database": "RefSeq" } ], "authors": "Boczkowska M, Rebowski G, Kremneva E, Lappalainen P, Dominguez R", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26487682", "type": [ "PubMed" ], "id": "26487682" } ], "title": "Knockout of Lmod2 results in shorter thin filaments followed by dilated cardiomyopathy and juvenile lethality.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "id": "NP_001094434.1", "database": "RefSeq" } ], "authors": "Pappas CT, Mayfield RM, Henderson C, Jamilpour N, Cover C, Hernandez Z, Hutchinson KR, Chu M, Nam KH, Valdez JM, Wong PK, Granzier HL, Gregorio CC", "date": "2015" } ], "uniprot_ac": "A1A5Q0", "site_annotation": [ { "end_pos": 153, "annotation": "n_glycosylation_sequon", "start_pos": 151 }, { "end_pos": 179, "annotation": "n_glycosylation_sequon", "start_pos": 177 }, { "end_pos": 231, "annotation": "n_glycosylation_sequon", "start_pos": 229 }, { "end_pos": 333, "annotation": "n_glycosylation_sequon", "start_pos": 331 }, { "end_pos": 65, "annotation": "n_glycosylation_sequon", "start_pos": 63 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0#A1A5Q0-1", "isoform_ac": "A1A5Q0-1", "locus": {}, "sequence": { "header": "sp|A1A5Q0-1|LMOD2_RAT Isoform 1 of Leiomodin-2 OS=Rattus norvegicus OX=10116 GN=Lmod2 PE=1 SV=1 CANONICAL=A1A5Q0-1", "length": 549, "sequence": "MSTFGYRRGLSKYESIDEDELLASLTAEELKELERELEDIEPDRNLPVGLRQKSLTEKTPTGNFSREALMAYWEKESQKLLEKERLGECGKLAEEDKEESEEELIFTESNSEVSEEVCTEEEEESTEEEEEEEEEDSEEEEVTTEVTKHINGTVSHNGVNPDNSKPKTFKSQIENINLTNGNSGGTQRNTESPAAIHPCGNPTVIEDALEKIKNNDPDTTEVNLNNIENITTQTLSRFAEALKENTVVKTFSLANTHADDAAAIAIAEMLKVNEHITSVNVESNFITGKGILAIMRALQHNTVLTELRFHNQRHIMGSQVEMEIVKLLKENTTLLRLGYHFELPGPRMSMTSILTRNMDKQRQKRMQEQKQQEGHDGGATLRTKVWQRGTPGSSPYASPRQSPWSSPKVSKKVHTGRSRPPSPVAPPPPPPPPPLPPHMLPPPPPPPAPPLPGKKLITRNIAEVIKQQESAQRALQNGQRKKKGKKVKKQPNNILKEIKNSLRSVQEKKMEESSRPSTPQRSAHENLMEAIRGSSIRQLRRVEVPEALR" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:296935", "resource": "KEGG Pathway", "id": "rno:296935", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "annotation": "Lmod contributes to the final organization and maintenance of sarcomere architecture by promoting tropomyosin-dependent actin filament nucleation.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "id": "NP_001094434.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A1A5Q0#function", "annotation": "Mediates nucleation of actin filaments and thereby promotes actin polymerization (PubMed:18403713). Plays a role in the regulation of actin filament length (By similarity). Required for normal sarcomere organization in the heart, and for normal heart function (PubMed:18403713).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0#function", "id": "A1A5Q0", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q3UHZ5-1", "protein_name": "Leiomodin-2", "sequence": { "length": 550, "sequence": "MSTFGYRRGLSKYESIDEDELLASLSPEELKELERELEDIEPDRNLPVGLRQKSLTEKTPTGNFSREALMAYWEKESQKLLEKERLGECGKVAEEDKEESEEELIFTESNSEVSEEVCTEDEEESQEEEEDSEEEEDSEEEEETTEATKHINGTVSYNSVNTDNSKPKTFKSQIENINLTNGNSGRTQRNSESPAAIHPCGNPTVIEDALEKIRNNDPDTTEVNLNNIENITTQTLSRFAEALKENTVVKTFSLANTHADDAAAIAIADMLKVNEHITSVNVESNFITGKGILAIMRALQHNTVLTELRFHNQRHIMGSQVEMEIVKLLKENTTLLRLGYHFELPGPRMSMTSILTRNMDKQRQKRMQEQKQQEGHDGGAALRTKVWQRGTPGSSPYASPRQSPWSSPKVSKKVHTGRSRPPSPVAPPPPPPPPPLPPHMLPPPPPPPAPPLPEKKLITRNIAEVIKQQESAQRALQNGQRKKKGKKVKKQPNNILKEIKNSLRSVQEKKMEDSSRPSTPQRSVHENLMEAIRGSSIRQLRRVEVPEALR" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28302", "id": "28302", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Lmod2", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q6P5Q4-1", "protein_name": "Leiomodin-2", "sequence": { "length": 547, "sequence": "MSTFGYRRGLSKYESIDEDELLASLSAEELKELERELEDIEPDRNLPVGLRQKSLTEKTPTGTFSREALMAYWEKESQKLLEKERLGECGKVAEDKEESEEELIFTESNSEVSEEVYTEEEEEESQEEEEEEDSDEEERTIETAKGINGTVNYDSVNSDNSKPKIFKSQIENINLTNGSNGRNTESPAAIHPCGNPTVIEDALDKIKSNDPDTTEVNLNNIENITTQTLTRFAEALKDNTVVKTFSLANTHADDSAAMAIAEMLKVNEHITNVNVESNFITGKGILAIMRALQHNTVLTELRFHNQRHIMGSQVEMEIVKLLKENTTLLRLGYHFELPGPRMSMTSILTRNMDKQRQKRLQEQKQQEGYDGGPNLRTKVWQRGTPSSSPYVSPRHSPWSSPKLPKKVQTVRSRPLSPVATPPPPPPPPPPPPPSSQRLPPPPPPPPPPLPEKKLITRNIAEVIKQQESAQRALQNGQKKKKGKKVKKQPNSILKEIKNSLRSVQEKKMEDSSRPSTPQRSAHENLMEAIRGSSIKQLKRVEVPEALR" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28302", "id": "28302", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "LMOD2", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "ac": "NP_001094434.1", "name": "leiomodin-2", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "actin binding", "id": "GO:0003779" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003785", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "actin monomer binding", "id": "GO:0003785" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005523", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "tropomyosin binding", "id": "GO:0005523" } ], "total": 3, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "cytoskeleton", "id": "GO:0005856" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005865", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "striated muscle thin filament", "id": "GO:0005865" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030017", "pmid": "18403713", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "sarcomere", "id": "GO:0030017" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097512", "pmid": "20685966", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "cardiac myofibril", "id": "GO:0097512" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005884", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "actin filament", "id": "GO:0005884" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031430", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "M band", "id": "GO:0031430" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030016", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "myofibril", "id": "GO:0030016" } ], "total": 7, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006936", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "muscle contraction", "id": "GO:0006936" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007015", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "actin filament organization", "id": "GO:0007015" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045214", "pmid": "18403713", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "sarcomere organization", "id": "GO:0045214" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030239", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "myofibril assembly", "id": "GO:0030239" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030041", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "actin filament polymerization", "id": "GO:0030041" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045010", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "actin nucleation", "id": "GO:0045010" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030838", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "positive regulation of actin filament polymerization", "id": "GO:0030838" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051694", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "name": "pointed-end actin filament capping", "id": "GO:0051694" } ], "total": 8, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1A5Q0", "type": "synonym", "resource": "RefSeq", "name": "Lmod2" }, { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "type": "recommended", "resource": "UniProtKB", "name": "Lmod2" } ], "pro_annotation": [], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/gene/296935", "id": "296935", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR004934", "id": "IPR004934", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR030132", "id": "IPR030132", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR032675", "id": "IPR032675", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+rno:296935", "id": "rno:296935", "database": "KEGG Pathway" }, { "url": "http://www.orthodb.org/?query=1025132at2759", "id": "1025132at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10901", "id": "PTHR10901", "database": "PANTHER" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR10901:SF12", "id": "PTHR10901:SF12", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF03250", "id": "PF03250", "database": "Pfam" }, { "url": "http://purl.obolibrary.org/obo/PR_PR_A1A5Q0", "id": "PR_A1A5Q0", "database": "PRO" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001094434.1", "id": "NP_001094434.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1592092", "id": "1592092", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A1A5Q0", "id": "A1A5Q0", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0007269", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "resource": "MONDO", "name": "dilated cardiomyopathy 1A", "description": "" }, { "id": "MONDO:0007269", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "resource": "MONDO", "name": "CDCD1", "description": "" }, { "id": "MONDO:0007269", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "resource": "MONDO", "name": "cardiomyopathy, familial idiopathic", "description": "" }, { "id": "MONDO:0007269", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "resource": "MONDO", "name": "cardiomyopathy, dilated, with conduction defect 1", "description": "" }, { "id": "MONDO:0007269", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "resource": "MONDO", "name": "CMD1A", "description": "" }, { "id": "MONDO:0007269", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "resource": "MONDO", "name": "LMNA familial isolated dilated cardiomyopathy", "description": "" }, { "id": "MONDO:0007269", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "resource": "MONDO", "name": "cardiomyopathy, idiopathic dilated", "description": "" }, { "id": "MONDO:0007269", "url": "https://monarchinitiative.org/disease/MONDO:0007269", "resource": "MONDO", "name": "cardiomyopathy, dilated, 1A; CMD1A", "description": "" }, { "id": "MONDO:0007269", "url": 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