Gene Gene information from NCBI Gene database.
Entrez ID 7111
Gene name Tropomodulin 1
Gene symbol TMOD1
Synonyms (NCBI Gene)
D9S57EETMODTMOD
Chromosome 9
Chromosome location 9q22.33
Summary This gene encodes a member of the tropomodulin family. The encoded protein is an actin-capping protein that regulates tropomyosin by binding to its N-terminus, inhibiting depolymerization and elongation of the pointed end of actin filaments and thereby in
miRNA miRNA information provided by mirtarbase database.
349
miRTarBase ID miRNA Experiments Reference
MIRT439420 hsa-miR-1185-2-3p HITS-CLIP 24374217
MIRT439421 hsa-miR-1185-1-3p HITS-CLIP 24374217
MIRT439419 hsa-miR-544a HITS-CLIP 24374217
MIRT439418 hsa-miR-412-3p HITS-CLIP 24374217
MIRT439420 hsa-miR-1185-2-3p HITS-CLIP 24374217
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IDA 26370058
GO:0003779 Function Actin binding IEA
GO:0005523 Function Tropomyosin binding IBA
GO:0005523 Function Tropomyosin binding IEA
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190930 11871 ENSG00000136842
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28289
Protein name Tropomodulin-1 (Erythrocyte tropomodulin) (E-Tmod)
Protein function Blocks the elongation and depolymerization of the actin filaments at the pointed end (PubMed:38168645). The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleto
PDB 4PKG , 4PKH , 4PKI , 4Z8G , 4Z94 , 8F8T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03250 Tropomodulin 3 143 Tropomodulin Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the erythrocyte, heart and skeletal muscle.
Sequence
MSYRRELEKYRDLDEDEILGALTEEELRTLENELDELDPDNALLPAGLRQKDQTTKAPTG
PFKREELLDHLEKQAKEFKDREDLVPYTGEKRGKVWVPKQKPLDPVLESVTLEPELEEAL
ANASDAELCDIAAILGMHTLMSN
QQYYQALSSSSIMNKEGLNSVIKPTQYKPVPDEEPNS
TDVEETLERIKNNDPKLEEVNLNNIRNIPIPTLKAYAEALKENSYVKKFSIVGTRSNDPV
AYALAEMLKENKVLKTLNVESNFISGAGILRLVEALPYNTSLVEMKIDNQSQPLGNKVEM
EIVSMLEKNATLLKFGYHFTQQGPRLRASNAMMNNNDLVRKRRLADLTGPIIPKCRSGV
Sequence length 359
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cytoskeleton in muscle cells   Striated Muscle Contraction
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Idiopathic cardiomyopathy Uncertain significance rs766826917 RCV003985138
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 38168645
Cardiomyopathy Restrictive Associate 38168645
familial dilated cardiomyopathy Associate 26873245
Muscular Diseases Associate 28025995
Myopathies Nemaline Associate 11964245, 37956287
Myotonia Congenita Associate 30768849
Neoplasms Associate 14741341, 31364131
Pulmonary Disease Chronic Obstructive Associate 28025995
Thyroid Neoplasms Associate 36316666