{ "uniprot_canonical_ac": "A2RUH7-1", "ptm_annotation": [], "sequence": { "header": "sp|A2RUH7-1|MBPHL_HUMAN Isoform 1 of Myosin-binding protein H-like OS=Homo sapiens OX=9606 GN=MYBPHL PE=1 SV=2 CANONICAL=A2RUH7-1", "length": 354, "sequence": "MEAATAPEVAAGSKLKVKEASPADAEPPQASPGQGAGSPTPQLLPPIEEHPKIWLPRALRQTYIRKVGDTVNLLIPFQGKPKPQAIWTHDGCALDTRRVSVRNGEQDSILFIREAQRADSGRYQLRVQLGGLEATATIDILVIERPGPPQSIKLVDVWGFSATLEWTPPQDTGNTALLGYTVQKADTKSGLWFTVLEHYHRTSCIVSDLIIGNSYAFRVFAENQCGLSETAPITTDLAHIQKAATVYKTKGFAQRDFSEAPKFTQPLADCTTVTGYNTQLFCCVRASPRPKIIWLKNKMDIQGNPKYRALTHLGICSLEIRKPGPFDGGIYTCKAVNPLGEASVDCRVDVKVPN" }, "uniprot_id": "MBPHL_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUH7", "id": "A2RUH7", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28778945", "type": [ "PubMed" ], "id": "28778945" } ], "title": "Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.", "journal": "Circulation", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010985.2", "id": "NP_001010985.2", "database": "RefSeq" } ], "authors": "Barefield DY, Puckelwartz MJ, Kim EY, Wilsbacher LD, Vo AH, Waters EA, Earley JU, Hadhazy M, Dellefave-Castillo L, Pesce LL, McNally EM", "date": "2017" } ], "uniprot_ac": "A2RUH7", "site_annotation": [], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RUH7#A2RUH7-1", "isoform_ac": "A2RUH7-1", "locus": { "end_pos": 109294242, "strand": "+", "start_pos": 109306991, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000357155", "id": "ENST00000357155", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000349678", "id": "ENSP00000349678", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RUH7-1|MBPHL_HUMAN Isoform 1 of Myosin-binding protein H-like OS=Homo sapiens OX=9606 GN=MYBPHL PE=1 SV=2 CANONICAL=A2RUH7-1", "length": 354, "sequence": "MEAATAPEVAAGSKLKVKEASPADAEPPQASPGQGAGSPTPQLLPPIEEHPKIWLPRALRQTYIRKVGDTVNLLIPFQGKPKPQAIWTHDGCALDTRRVSVRNGEQDSILFIREAQRADSGRYQLRVQLGGLEATATIDILVIERPGPPQSIKLVDVWGFSATLEWTPPQDTGNTALLGYTVQKADTKSGLWFTVLEHYHRTSCIVSDLIIGNSYAFRVFAENQCGLSETAPITTDLAHIQKAATVYKTKGFAQRDFSEAPKFTQPLADCTTVTGYNTQLFCCVRASPRPKIIWLKNKMDIQGNPKYRALTHLGICSLEIRKPGPFDGGIYTCKAVNPLGEASVDCRVDVKVPN" } }, { "url": "https://www.uniprot.org/uniprot/A2RUH7#A2RUH7-2", "isoform_ac": "A2RUH7-2", "locus": {}, "sequence": { "header": "sp|A2RUH7-2|MBPHL_HUMAN Isoform 2 of Myosin-binding protein H-like OS=Homo sapiens OX=9606 GN=MYBPHL PE=1 SV=2 CANONICAL=A2RUH7-1", "length": 331, "sequence": "MEAATAPEVAAGSKLKVKEASPADAEPPQASPGQGAGSPTPQLLPPIEEHPKIWLPRALRQTYIRKVGDTVNLLIPFQGKPKPQAIWTHDGCALDTRRVSVRNGEQDSILFIREAQRADSERPGPPQSIKLVDVWGFSATLEWTPPQDTGNTALLGYTVQKADTKSGLWFTVLEHYHRTSCIVSDLIIGNSYAFRVFAENQCGLSETAPITTDLAHIQKAATVYKTKGFAQRDFSEAPKFTQPLADCTTVTGYNTQLFCCVRASPRPKIIWLKNKMDIQGNPKYRALTHLGICSLEIRKPGPFDGGIYTCKAVNPLGEASVDCRVDVKVPN" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:343263", "resource": "KEGG Pathway", "id": "hsa:343263", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010985.2", "annotation": "MYBPHL truncations may increase risk for human arrhythmias and cardiomyopathy.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010985.2", "id": "NP_001010985.2", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q5FW53-1", "protein_name": "Myosin-binding protein H-like", "sequence": { "length": 355, "sequence": "METATTLEIASCSQRQVEAAADPADAKGPRTSHQQEAGSPSLQLLPSIEEHPKIWLPRALKQTYIRKAGETVNLLIPIQGKPKPQTTWTHNGCALDSSRVSVRNGEHDSILFIREAQRTDSGCYQLCVQLGGLQATATINILVIEKPGPPQSIKLVDVWGANATLEWTPPQDTGNTALLGYTVQKADKKSGLWFTVLERYHRTSCVVSNLIVGNSYAFRVFAENQCGLSDTAPVTADLAHIQKAATVYKAKGFAQRDLSEAPKFTQPLADCTTVTGYDTQLFCCVRASPRPKIIWLKNKMDLQGNPKYRALSQLGICSLEIRKPSPFDGGIYTCKAINALGEASVDCRVDVKAPH" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RUH7/", "id": "A2RUH7", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/19221", "id": "19221", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q5PQM4-1", "protein_name": "Myosin-binding protein H-like", "sequence": { "length": 355, "sequence": "METATTLEIASCSQRQVEEAADPADAEGPQTTRQQEAGSPSLQLLPSIEEHPKIWLPRALRQTYIRKVGETVNLLIPFQGKPKPQTIWTHNGSALDNSRVSVRNGEHDSILFIREAQRTDSGCYQLCVQLGGLQATATINILVIEKPGPPQSIKLVDVWGANATLEWTPPQDTGNTALLGYTVQKADKKSGLWFTVLERYHRTSCIVSDLIVGNSYAFRVFAENQCGLSDTAPVTADLAHIQKAATVYKAKGFAQRDLSEAPKFTQPLADCTTVTGYDTQLFCCVRASPKPKIIWLKNKMDLQGNPKYRALSQLGICSLEIRKPSPFDGGIYTCKAINALGEASVDCRVDVKAPH" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/A2RUH7/", "id": "A2RUH7", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/19221", "id": "19221", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "L", "start_pos": 141, "alt_nt": "G", "chr_id": "1", "ref_nt": "A", "chr_pos": "109840052", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUH7", "id": "A2RUH7", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "P", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 141, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "V", "start_pos": 155, "alt_nt": "T", "chr_id": "1", "ref_nt": "C", "chr_pos": "109839779", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUH7", "id": "A2RUH7", "database": "BioMuta" } ], "frequency": "1.1", "sequence_mut": "M", "subjects_tested": "94", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%).", "end_pos": 155, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "V", "start_pos": 17, "alt_nt": "C", "chr_id": "1", "ref_nt": "A", "chr_pos": "109849564", "disease": [ { "synonyms": [ { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "tumor of the bladder", "description": "" } ], "recommended_name": { "id": "DOID:11054", "url": "http://disease-ontology.org/term/DOID:11054", "resource": "Disease Ontology", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUH7", "id": "A2RUH7", "database": "BioMuta" } ], "frequency": "1.0", "sequence_mut": "G", "subjects_tested": "103", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.0%).", "end_pos": 17, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "start_pos": 275, "alt_nt": "A", "chr_id": "1", "ref_nt": "C", "chr_pos": "109838899", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUH7", "id": "A2RUH7", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 275, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "W", "start_pos": 294, "alt_nt": "T", "chr_id": "1", "ref_nt": "C", "chr_pos": "109837905", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUH7", "id": "A2RUH7", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "*", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 294, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "G", "start_pos": 340, "alt_nt": "A", "chr_id": "1", "ref_nt": "C", "chr_pos": "109837768", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUH7", "id": "A2RUH7", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "V", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 340, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "V", "start_pos": 99, "alt_nt": "G", "chr_id": "1", "ref_nt": "A", "chr_pos": "109840178", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUH7", "id": "A2RUH7", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "A", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 99, "minor_allelic_frequency": "", "subjects_positive": "1" } ], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001010985.2", "ac": "NP_001010985.2", "name": "myosin-binding protein H-like isoform 1", "summary": "This gene encodes a protein with two immunoglobulin superfamily domains and a fibronectin 3 domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUH7", "id": "A2RUH7", "database": "UniProtKB" } ], "name": "in utero embryonic development", "id": "GO:0001701" } ], "total": 1, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A2RUH7", "type": "synonym", "resource": "RefSeq", "name": "MYBPHL" }, { "url": "https://www.uniprot.org/uniprot/A2RUH7", "type": "recommended", "resource": "UniProtKB", "name": "MYBPHL" } ], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000221986", "id": "ENSG00000221986", "database": "Bgee" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUH7", "id": "A2RUH7", "database": "BioMuta" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "id": "cd00063", "database": "CDD" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=MYBPHL", "id": "MYBPHL", "database": "GeneCards" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/343263", "id": "343263", "database": "GeneID" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=30434", "id": "30434", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RUH7*", "id": "A2RUH7", "database": "IntAct" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598", "id": "IPR003598", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "id": "IPR003599", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "id": "IPR003961", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "id": "IPR007110", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013098", "id": "IPR013098", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "id": "IPR013783", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116", "id": "IPR036116", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "id": "IPR036179", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:343263", "id": "hsa:343263", "database": "KEGG Pathway" }, { "url": "https://www.nextprot.org/entry/NX_A2RUH7", "id": "NX_A2RUH7", "database": "neXtProt" }, { "url": "https://omabrowser.org/oma/group/DVWGFSA/", "id": "DVWGFSA", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=653839at2759", "id": "653839at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00041", "id": "PF00041", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF07679", "id": "PF07679", "database": "Pfam" }, { "url": "https://pharos.nih.gov/targets/A2RUH7", "id": "A2RUH7", "database": "PHAROS" }, { "url": 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