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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BARRETT'S ESOPHAGUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 27527254
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer GWASCAT_DG 27527254
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31333911
★☆☆☆☆
Found in Text Mining only
Barrett Esophagus Barrett esophagus GWASCAT_DG 27527254
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25398440
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy Pubtator 38168645 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Restrictive Restrictive cardiomyopathy Pubtator 38168645 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy, Familial Idiopathic Cardiomyopathy BEFREE 26873245
★☆☆☆☆
Found in Text Mining only
Corpus Luteum Cyst Corpus Luteum Cyst CTD_human_DG 21239663
★☆☆☆☆
Found in Text Mining only
familial dilated cardiomyopathy Dilated cardiomyopathy Pubtator 26873245 Associate
★☆☆☆☆
Found in Text Mining only