{ "uniprot_canonical_ac": "P97447-1", "uniprot_ac": "P97447", "uniprot_id": "FHL1_MOUSE", "mass": { "chemical_mass": 31889.0, "monoisotopic_mass": 31889.0 }, "refseq": { "ac": "NP_001070829", "name": "four and a half LIM domains protein 1 isoform 1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829" }, "gene_names": [ { "name": "Fhl1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P97447", "id": "P97447" }, { "name": "FHL-1; KyoT; RAM14-1; SLIM; SLIM-1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829", "id": "NP_001070829" }, { "name": "Fhl1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829", "id": "NP_001070829" } ], "protein_names": [ { "name": "Four and a half LIM domains protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P97447" }, { "name": "FHL-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P97447" }, { "name": "KyoT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P97447" }, { "name": "RAM14-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P97447" }, { "name": "RBP-associated molecule 14-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P97447" }, { "name": "SLIM-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P97447" }, { "name": "SLIM", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P97447" }, { "name": "Skeletal muscle LIM-protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P97447" }, { "name": "four and a half LIM domains protein 1 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829", "id": "NP_001070829" }, { "name": "four and a half LIM domains protein 1 isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070830", "id": "NP_001070830" }, { "name": "four and a half LIM domains protein 1; RBP-associated molecule 14-1; skeletal muscle LIM-protein 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070830", "id": "NP_001070830" } ], "function": [ { "annotation": "FHL1 is a key player of chikungunya virus tropism and pathogenesis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001070829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829" }, { "database": "PubMed", "id": "33988325", "url": "https://glygen.org/publication/PubMed/33988325" }, { "database": "RefSeq", "id": "NP_001070830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070830" } ] }, { "annotation": "May have an involvement in muscle development or hypertrophy. Isoform 2 binds to RBP-J and plays a negative regulatory role in the RBP-J-mediated transcription in mammalian systems.", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447#function" } ] }, { "annotation": "MiR-183-5p induced by saturated fatty acids regulates the myogenic differentiation by directly targeting FHL1 in C2C12 myoblasts.", "evidence": [ { "database": "RefSeq", "id": "NP_001070829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829" }, { "database": "PubMed", "id": "33148375", "url": "https://glygen.org/publication/PubMed/33148375" }, { "database": "RefSeq", "id": "NP_001070830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070830" } ] }, { "annotation": "Systemic effect of FHL1 on neuromuscular junction and myotube formation via insulin-like growth factor and myostatin signaling pathways.", "evidence": [ { "database": "RefSeq", "id": "NP_001070829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829" }, { "database": "PubMed", "id": "33401146", "url": "https://glygen.org/publication/PubMed/33401146" }, { "database": "RefSeq", "id": "NP_001070830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070830" } ] } ], "disease": [ { "disease_id": "DOID:0060253", "recommended_name": { "id": "DOID:0060253", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060253", "name": "scapuloperoneal myopathy", "description": "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm." }, "synonyms": [ { "id": "MONDO:0010400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010400", "name": "X-linked scapuloperoneal muscular dystrophy", "description": "X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging." }, { "id": "MONDO:0010400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010400", "name": "X-linked SPMD", "description": "" }, { "id": "MONDO:0010400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010400", "name": "X-linked scapuloperoneal syndrome", "description": "" }, { "id": "MONDO:0010400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010400", "name": "scapuloperoneal myopathy, X-linked dominant, X-linked dominant", "description": "" }, { "id": "MONDO:0010400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010400", "name": "SPM", "description": "" }, { "id": "MONDO:0010400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010400", "name": "scapuloperoneal myopathy, FHL1-related", "description": "" }, { "id": "MONDO:0010400", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010400", "name": "scapuloperoneal myopathy, X-linked dominant", "description": "" }, { "id": "MIM:300695", "resource": "MIM", "url": "https://www.omim.org/entry/300695", "name": "Scapuloperoneal myopathy, X-linked dominant", "description": "Scapuloperoneal myopathy, X-linked dominant" } ], "evidence": [ { "id": "0060253", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060253" } ] }, { "disease_id": "DOID:0070251", "recommended_name": { "id": "DOID:0070251", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070251", "name": "X-linked Emery-Dreifuss muscular dystrophy 6", "description": "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3." }, "synonyms": [ { "id": "DOID:0070251", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070251", "name": "EDMD6", "description": "" }, { "id": "DOID:0070251", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070251", "name": "Emery-Dreifuss muscular dystrophy 6, X-linked", "description": "" }, { "id": "DOID:0070251", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070251", "name": "XMPMA", "description": "" }, { "id": "DOID:0070251", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070251", "name": "myopathy, X-linked, with postural muscle atrophy", "description": "" }, { "id": "MONDO:0010401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010401", "name": "X-linked myopathy with postural muscle atrophy", "description": "X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present." }, { "id": "MONDO:0010401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010401", "name": "X-linked myopathy with postural muscle atrophy", "description": "" }, { "id": "MONDO:0010401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010401", "name": "XMPMA", "description": "" }, { "id": "MONDO:0010401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010401", "name": "myopathy, X-linked, with postural muscle atrophy, X-linked recessive", "description": "" }, { "id": "MONDO:0010401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010401", "name": "Ehlers-Danlos syndrome, classic-like, 1", "description": "" }, { "id": "MONDO:0010401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010401", "name": "Emery-Dreifuss muscular dystrophy 6, X-linked", "description": "" }, { "id": "MONDO:0010401", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010401", "name": "myopathy, X-linked, with postural muscle atrophy", "description": "" }, { "id": "MIM:300696", "resource": "MIM", "url": "https://www.omim.org/entry/300696", "name": "Myopathy, X-linked, with postural muscle atrophy", "description": "Myopathy, X-linked, with postural muscle atrophy" } ], "evidence": [ { "id": "0070251", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070251" } ] }, { "disease_id": "DOID:0080090", "recommended_name": { "id": "DOID:0080090", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080090", "name": "reducing body myopathy 1A", "description": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26." }, "synonyms": [ { "id": "MONDO:0010414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010414", "name": "myopathy, reducing body, X-linked, early-onset, severe", "description": "" }, { "id": "MONDO:0010414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010414", "name": "myopathy, reducing body, X-linked, early-onset, severe", "description": "" }, { "id": "MONDO:0010414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010414", "name": "reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, X-linked dominant", "description": "" }, { "id": "MONDO:0010414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010414", "name": "RBMX1A", "description": "" }, { "id": "MONDO:0010414", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010414", "name": "reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset", "description": "" }, { "id": "MIM:300717", "resource": "MIM", "url": "https://www.omim.org/entry/300717", "name": "Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset", "description": "Reducing body myopathy, X-linked 1A, severe, with infantile or early childhood onset" } ], "evidence": [ { "id": "0080090", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080090" } ] }, { "disease_id": "DOID:0080687", "recommended_name": { "id": "DOID:0080687", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080687", "name": "reducing body myopathy 1B", "description": "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26." }, "synonyms": [ { "id": "MONDO:0010415", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010415", "name": "myopathy, reducing body, X-linked, childhood-onset", "description": "" }, { "id": "MONDO:0010415", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010415", "name": "myopathy, reducing body, X-linked, childhood-onset", "description": "" }, { "id": "MONDO:0010415", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010415", "name": "RBMX1B", "description": "" }, { "id": "MONDO:0010415", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010415", "name": "reducing body myopathy, X-linked 1B, with late childhood or adult onset", "description": "" }, { "id": "MIM:300718", "resource": "MIM", "url": "https://www.omim.org/entry/300718", "name": "Reducing body myopathy, X-linked 1B, with late childhood or adult onset", "description": "Reducing body myopathy, X-linked 1B, with late childhood or adult onset" } ], "evidence": [ { "id": "0080687", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080687" } ] }, { "disease_id": "DOID:0112148", "recommended_name": { "id": "DOID:0112148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112148", "name": "Uruguay faciocardiomusculoskeletal syndrome", "description": "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3." }, "synonyms": [ { "id": "DOID:0112148", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112148", "name": "FCMSU", "description": "" }, { "id": "MONDO:0010292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010292", "name": "Uruguay Faciocardiomusculoskeletal syndrome", "description": "" }, { "id": "MONDO:0010292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010292", "name": "Uruguay Faciocardiomusculoskeletal syndrome", "description": "" }, { "id": "MONDO:0010292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010292", "name": "uruguay faciocardiomusculoskeletal syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010292", "name": "FCMSU", "description": "" }, { "id": "MONDO:0010292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010292", "name": "Fcms", "description": "" }, { "id": "MONDO:0010292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010292", "name": "URUGUAY FACIOCARDIOMUSCULOSKELETAL syndrome", "description": "" }, { "id": "MONDO:0010292", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010292", "name": "faciocardiomusculoskeletal syndrome, Uruguay type", "description": "" }, { "id": "MIM:300280", "resource": "MIM", "url": "https://www.omim.org/entry/300280", "name": "Uruguay faciocardiomusculoskeletal syndrome", "description": "Uruguay faciocardiomusculoskeletal syndrome" } ], "evidence": [ { "id": "0112148", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0112148" } ] }, { "disease_id": "DOID:11984", "recommended_name": { "id": "DOID:11984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11984", "name": "hypertrophic cardiomyopathy", "description": "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause." }, "synonyms": [ { "id": "DOID:11984", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11984", "name": "hypertrophic obstructive cardiomyopathy", "description": "" } ], "evidence": [ { "id": "11984", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11984" } ] }, { "disease_id": "DOID:423", "recommended_name": { "id": "DOID:423", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:423", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." }, "synonyms": [], "evidence": [ { "id": "423", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:423" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "common_name": "Mouse" } ], "gene": [ { "name": 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"id": "RHYIAGT", "url": "https://omabrowser.org/oma/group/RHYIAGT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "370973at2759", "url": "http://www.orthodb.org/?query=370973at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR47029", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47029", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47029:SF2", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47029:SF2", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR47029:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR47029:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4J2X", "url": "https://www.rcsb.org/structure/4J2X", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00412", "url": "http://pfam.xfam.org/family/PF00412", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P97447", "url": "http://purl.obolibrary.org/obo/PR_P97447", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_001070830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070830", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A2AEX6", "url": "https://www.uniprot.org/uniprot/A2AEX6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEX6-1", "url": "https://www.uniprot.org/uniprot/A2AEX6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEX7", "url": "https://www.uniprot.org/uniprot/A2AEX7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEX7-1", "url": "https://www.uniprot.org/uniprot/A2AEX7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEX8", "url": "https://www.uniprot.org/uniprot/A2AEX8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEX8-1", "url": "https://www.uniprot.org/uniprot/A2AEX8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEX9", "url": "https://www.uniprot.org/uniprot/A2AEX9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEX9-1", "url": "https://www.uniprot.org/uniprot/A2AEX9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEY0", "url": "https://www.uniprot.org/uniprot/A2AEY0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEY0-1", "url": "https://www.uniprot.org/uniprot/A2AEY0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEY1", "url": "https://www.uniprot.org/uniprot/A2AEY1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEY1-1", "url": "https://www.uniprot.org/uniprot/A2AEY1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEY2", "url": "https://www.uniprot.org/uniprot/A2AEY2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A2AEY2-1", "url": "https://www.uniprot.org/uniprot/A2AEY2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P97447-1", "url": "https://www.uniprot.org/uniprot/P97447-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P97447-2", "url": "https://www.uniprot.org/uniprot/P97447-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCLHPLASETFVSKDGKILCNKCATREDSPRCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHAECFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHNEQVYCPDCAKKL", "length": 280, "header": "sp|P97447-1|FHL1_MOUSE Isoform 1 of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=3 CANONICAL=P97447-1" }, "isoforms": [ { "isoform_ac": "A2AEX6-1", "url": "", "sequence": { "sequence": "MTFYVAFLALKLIWMLSSPTGPSSYKVGTMSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCLHPLASETFVSKDGKILCNKCATREDSPRCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHAECFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHNEQVYCPDCAKKL", "length": 309, "header": "tr|A2AEX6-1|FHL1_MOUSE Computationally mapped isoform of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=1 CANONICAL=P97447-1" }, "locus": { "chromosome": "X", "start_pos": 55837355, "end_pos": 55824823, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000114773.10", "url": "https://www.ensembl.org/id/ENSMUST00000114773.10" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000110421.4", "url": "https://www.ensembl.org/id/ENSMUSP00000110421.4" } ] } }, { "isoform_ac": "A2AEX7-1", "url": "", "sequence": { "sequence": "MASQRHSGPSSYKVGTMSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCLHPLASETFVSKDGKILCNKCATREDSPRCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKGLVKAPVWWPMKDNPGTTTASTAKNAP", "length": 210, "header": "tr|A2AEX7-1|FHL1_MOUSE Computationally mapped isoform of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=1 CANONICAL=P97447-1" }, "locus": { "chromosome": "X", "start_pos": 55837284, "end_pos": 55825133, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000114768.10", "url": "https://www.ensembl.org/id/ENSMUST00000114768.10" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000110416.4", "url": "https://www.ensembl.org/id/ENSMUSP00000110416.4" } ] } }, { "isoform_ac": "A2AEX8-1", "url": "", "sequence": { "sequence": "MASQRHSGPSSYKVGTMSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCLHPLASETFVSKDGKILCNKCATREDSPRCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHAECFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHNEQVYCPDCAKKL", "length": 296, "header": "tr|A2AEX8-1|FHL1_MOUSE Computationally mapped isoform of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=1 CANONICAL=P97447-1" }, "locus": { "chromosome": "X", "start_pos": 55837355, "end_pos": 55825133, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000114772.9", "url": "https://www.ensembl.org/id/ENSMUST00000114772.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000110420.3", "url": "https://www.ensembl.org/id/ENSMUSP00000110420.3" } ] } }, { "isoform_ac": "A2AEX9-1", "url": "", "sequence": { "sequence": "MSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCL", "length": 72, "header": "tr|A2AEX9-1|FHL1_MOUSE Computationally mapped isoform of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=1 CANONICAL=P97447-1" }, "locus": { "chromosome": "X", "start_pos": 55834563, "end_pos": 55833375, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000155882.8", "url": "https://www.ensembl.org/id/ENSMUST00000155882.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000115700.2", "url": "https://www.ensembl.org/id/ENSMUSP00000115700.2" } ] } }, { "isoform_ac": "A2AEY0-1", "url": "", "sequence": { "sequence": "MSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCLHPLASETFVSKDGKILC", "length": 89, "header": "tr|A2AEY0-1|FHL1_MOUSE Computationally mapped isoform of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=1 CANONICAL=P97447-1" }, "locus": { "chromosome": "X", "start_pos": 55834614, "end_pos": 55833375, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000151033.2", "url": "https://www.ensembl.org/id/ENSMUST00000151033.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000119828.2", "url": "https://www.ensembl.org/id/ENSMUSP00000119828.2" } ] } }, { "isoform_ac": "A2AEY1-1", "url": "", "sequence": { "sequence": "MSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCLHPLASETFVSKDGKILCNKCATREDSPRCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHAECFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGRLKS", "length": 234, "header": "tr|A2AEY1-1|FHL1_MOUSE Computationally mapped isoform of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=8 CANONICAL=P97447-1" }, "locus": { "chromosome": "X", "start_pos": 55836024, "end_pos": 55833375, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000144600.8", "url": "https://www.ensembl.org/id/ENSMUST00000144600.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000116725.2", "url": "https://www.ensembl.org/id/ENSMUSP00000116725.2" } ] } }, { "isoform_ac": "A2AEY2-1", "url": "", "sequence": { "sequence": "MSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCLHPLASETFVSKDGKILCNKCATREDSPRCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHAECFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHPVSKARKSPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAKNAP", "length": 323, "header": "tr|A2AEY2-1|FHL1_MOUSE Computationally mapped isoform of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=1 CANONICAL=P97447-1" }, "locus": { "chromosome": "X", "start_pos": 55837284, "end_pos": 55833375, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000114769.9", "url": "https://www.ensembl.org/id/ENSMUST00000114769.9" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000110417.3", "url": "https://www.ensembl.org/id/ENSMUSP00000110417.3" } ] } }, { "isoform_ac": "P97447-1", "url": "", "sequence": { "sequence": "MSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCLHPLASETFVSKDGKILCNKCATREDSPRCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHAECFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHNEQVYCPDCAKKL", "length": 280, "header": "sp|P97447-1|FHL1_MOUSE Isoform 1 of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=3 CANONICAL=P97447-1" }, "locus": { "chromosome": "X", "start_pos": 55837355, "end_pos": 55833375, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000023854", "url": "https://www.ensembl.org/id/ENSMUST00000023854" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000023854", "url": "https://www.ensembl.org/id/ENSMUSP00000023854" } ] } }, { "isoform_ac": "P97447-2", "url": "", "sequence": { "sequence": "MSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVDCRKPISADAKEVHYKNRYWHDNCFRCAKCLHPLASETFVSKDGKILCNKCATREDSPRCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKGLVKAPVWWPMKDNPGTTTASTAKNAP", "length": 194, "header": "sp|P97447-2|FHL1_MOUSE Isoform 2 of Four and a half LIM domains protein 1 OS=Mus musculus OX=10090 GN=Fhl1 PE=1 SV=3 CANONICAL=P97447-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "The LIM proteins FHL1 and FHL3 are expressed differently in skeletal muscle.", "journal": "Biochem. Biophys. Res. Commun.", "date": "1999", "authors": "Morgan MJ, Madgwick AJ", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "reference": [ { "type": "PubMed", "id": "10049693", "url": "https://glygen.org/publication/PubMed/10049693" } ] }, { "title": "Expression patterns of FHL/SLIM family members suggest important functional roles in skeletal muscle and cardiovascular system.", "journal": "Mech. Dev.", "date": "2000", "authors": "Chu PH, Ruiz-Lozano P, Zhou Q, Cai C, Chen J", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "reference": [ { "type": "PubMed", "id": "10906474", "url": "https://glygen.org/publication/PubMed/10906474" } ] }, { "title": "SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways.", "journal": "Mol. Cell", "date": "2013", "authors": "Park J, Chen Y, Tishkoff DX, Peng C, Tan M, Dai L, Xie Z, Zhang Y, Zwaans BM, Skinner ME, Lombard DB, Zhao Y", "evidence": [ { "database": "UniProtKB", "id": "A2AEY2", "url": "https://www.uniprot.org/uniprot/A2AEY2" }, { "database": "UniProtKB", "id": "A2AEY0", "url": "https://www.uniprot.org/uniprot/A2AEY0" }, { "database": "UniProtKB", "id": "A2AEY1", "url": "https://www.uniprot.org/uniprot/A2AEY1" }, { "database": "UniProtKB", "id": "A2AEX7", "url": "https://www.uniprot.org/uniprot/A2AEX7" }, { "database": "UniProtKB", "id": "A2AEX6", "url": "https://www.uniprot.org/uniprot/A2AEX6" }, { "database": "UniProtKB", "id": "A2AEX9", "url": "https://www.uniprot.org/uniprot/A2AEX9" }, { "database": "UniProtKB", "id": "A2AEX8", "url": "https://www.uniprot.org/uniprot/A2AEX8" }, { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "reference": [ { "type": "PubMed", "id": "23806337", "url": "https://glygen.org/publication/PubMed/23806337" } ] }, { "title": "MiR-183-5p induced by saturated fatty acids regulates the myogenic differentiation by directly targeting FHL1 in C2C12 myoblasts.", "journal": "BMB reports", "date": "2020", "authors": "Nguyen MT, Min KH, Lee W", "evidence": [ { "database": "RefSeq", "id": "NP_001070830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070830" }, { "database": "RefSeq", "id": "NP_001070829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829" } ], "reference": [ { "type": "PubMed", "id": "33148375", "url": "https://glygen.org/publication/PubMed/33148375" } ] }, { "title": "Systemic effect of FHL1 on neuromuscular junction and myotube formation via insulin-like growth factor and myostatin signaling pathways.", "journal": "Biochemical and biophysical research communications", "date": "2021", "authors": "Wu J, Zhao K, Du Z, Chen Y, Zhang F, Jiang W, Zheng J, Wu X, Shen C, Xiao X", "evidence": [ { "database": "RefSeq", "id": "NP_001070829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829" }, { "database": "RefSeq", "id": "NP_001070830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070830" } ], "reference": [ { "type": "PubMed", "id": "33401146", "url": "https://glygen.org/publication/PubMed/33401146" } ] }, { "title": "FHL1 is a key player of chikungunya virus tropism and pathogenesis.", "journal": "Comptes rendus biologies", "date": "2021", "authors": "Meertens L, Hafirassou ML, Couderc T, Bonnet-Madin L, Kril V, Kummerer BM, Labeau A, Brugier A, Simon-Loriere E, Burlaud-Gaillard J, Doyen C, Pezzi L, Goupil T, Rafasse S, Vidalain PO, Legout AB, Gueneau L, Juntas-Morales R, Yaou RB, Bonne G, de Lamballerie X, Benkirane M, Roingeard P, Delaugerre C, Lecuit M, Amara A", "evidence": [ { "database": "RefSeq", "id": "NP_001070830", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070830" }, { "database": "RefSeq", "id": "NP_001070829", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001070829" } ], "reference": [ { "type": "PubMed", "id": "33988325", "url": "https://glygen.org/publication/PubMed/33988325" } ] }, { "title": "LIM protein KyoT2 negatively regulates transcription by association with the RBP-J DNA-binding protein.", "journal": "Mol. Cell. Biol.", "date": "1998", "authors": "Han H., Furukawa T., Honjo T., Taniguchi Y., Tun T.", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "reference": [ { "type": "PubMed", "id": "9418910", "url": "https://glygen.org/publication/PubMed/9418910" } ] } ], "pathway": [ { "id": "mmu:14199", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:14199", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q13642-2", "protein_name": "Four and a half LIM domains protein 1", "gene_name": "FHL1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGKRTVSRVSHPVSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAKNAP", "length": 323 }, "evidence": [ { "id": "45225591", "url": "http://www.informatics.jax.org/homology/45225591", "database": "MGI" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q9WUH4-1", "protein_name": "Four and a half LIM domains protein 1", "gene_name": "Fhl1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSEKFDCHYCRDPLQGKKYVQKDGRHCCLKCFDKFCANTCVECRKPISADAKEVHYKNRYWHDTCFRCAKCLHPLASETFVSKDGKILCNKCATREDSPRCKGCFKAIVAGDQNVEYKGTIWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHAECFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHNEQVYCPDCAKKL", "length": 280 }, "evidence": [ { "id": "45225591", "url": "http://www.informatics.jax.org/homology/45225591", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" }, { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 8, "go_terms": [ { "name": "muscle organ development", "id": "GO:0007517", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007517", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" }, { "name": "cell differentiation", "id": "GO:0030154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030154", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" }, { "name": "positive regulation of potassium ion transport", "id": "GO:0043268", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043268", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" }, { "name": "regulation of potassium ion transmembrane transporter activity", "id": "GO:1901016", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901016", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" }, { "name": "negative regulation of cell growth", "id": "GO:0030308", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030308", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" }, { "name": "negative regulation of G1/S transition of mitotic cell cycle", "id": "GO:2000134", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000134", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" }, { "name": "regulation of 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"" }, { "name": "cytosol", "id": "GO:0005829", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P97447", "url": "https://www.uniprot.org/uniprot/P97447" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": 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