• Gene id: 7111

Gene Summary

• Gene Symbol: TMOD1   Gene   UCSC   Ensembl
• Aliases: D9S57E, ETMOD, TMOD
• Gene name: tropomodulin 1
• Alternate names: tropomodulin-1, E-Tmod, e-tropomodulin, erythrocyte tropomodulin,
• Gene location: 9q22.33 (97501179: 97601742)     Exons: 11     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 600692

Protein Summary

• Protein general information: P28289  
  • Name: Tropomodulin 1 (Erythrocyte tropomodulin) (E Tmod)
  • Length: 359  
  • Mass: 40569
  • Tissue specificity: Highly expressed in the erythrocyte, heart and skeletal muscle.
• Sequence:

  MSYRRELEKYRDLDEDEILGALTEEELRTLENELDELDPDNALLPAGLRQKDQTTKAPTGPFKREELLDHLEKQA
  KEFKDREDLVPYTGEKRGKVWVPKQKPLDPVLESVTLEPELEEALANASDAELCDIAAILGMHTLMSNQQYYQAL
  SSSSIMNKEGLNSVIKPTQYKPVPDEEPNSTDVEETLERIKNNDPKLEEVNLNNIRNIPIPTLKAYAEALKENSY
  VKKFSIVGTRSNDPVAYALAEMLKENKVLKTLNVESNFISGAGILRLVEALPYNTSLVEMKIDNQSQPLGNKVEM
  EIVSMLEKNATLLKFGYHFTQQGPRLRASNAMMNNNDLVRKRRLADLTGPIIPKCRSGV

• Structural information:
  • Interpro: IPR032675  IPR004934  IPR030135  
  • PDB: 4PKG 4PKH 4PKI 4Z8G 4Z94
  • PDBsum: 4PKG 4PKH 4PKI 4Z8G 4Z94
  • STRING: ENSP00000259365
• Other Databases: GeneCards:  TMOD1  Malacards:  TMOD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005523	tropomyosin binding	IBA	molecular function
GO:0005865	striated muscle thin filament	IBA	cellular component
GO:0007015	actin filament organization	IBA	biological process
GO:0005856	cytoskeleton	IBA	cellular component
GO:0006936	muscle contraction	IBA	biological process
GO:0030016	myofibril	IBA	cellular component
GO:0030239	myofibril assembly	IBA	biological process
GO:0008180	COP9 signalosome	IDA	colocalizes with
GO:0003779	actin binding	IDA	molecular function
GO:0030017	sarcomere	IDA	cellular component
GO:0030016	myofibril	IDA	cellular component
GO:0005884	actin filament	IDA	cellular component
GO:0005523	tropomyosin binding	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0051694	pointed-end actin filament capping	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030049	muscle filament sliding	TAS	biological process
GO:0006936	muscle contraction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030016	myofibril	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0030239	myofibril assembly	IEA	biological process
GO:0030863	cortical cytoskeleton	IEA	cellular component
GO:0005523	tropomyosin binding	IEA	molecular function
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0070307	lens fiber cell development	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005865	striated muscle thin filament	IDA	cellular component
GO:0005865	striated muscle thin filament	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq