GENE NAME | TPM1 |
CHROMOSOME | 15 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000140416 |
UNIPROT ACCESSION NUMBER | P09493 |
GO MOLECULAR FUNCTION | ['protein homodimerization activity', 'structural constituent of cytoskeleton', 'structural constituent of muscle', 'protein heterodimerization activity', 'protein binding', 'cytoskeletal protein binding', 'actin binding', 'actin filament binding', 'identical protein binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04260; hsa04261; hsa05206; hsa05410; hsa05414; R-HSA-390522; R-HSA-397014; R-HSA-445355 |
1 combination linked to TPM1 | OLI1794 |
1 variant linked to TPM1 | TPM1:c.644C>T, p.Ser215Leu |
1 disease linked to TPM1 | NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy |