Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7111
Gene name Gene Name - the full gene name approved by the HGNC.
Tropomodulin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMOD1
Synonyms (NCBI Gene) Gene synonyms aliases
D9S57E, ETMOD, TMOD
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q22.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
190930 11871 ENSG00000136842
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Barrett esophagus Barrett's esophagus N/A N/A GWAS
Intracranial Aneurysm Intracranial aneurysm N/A N/A GWAS
Associations from Text Mining Disease 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