TMOD1 - tropomodulin 1 Gene

Also Known as TMOD; ETMOD; D9S57E

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7111

About TMOD1

Cytogenetic location: 9q22.33 Genomic coordinates (GRCh38): 9:97,501,180-97,601,743 (from NCBI)

This gene has 3 transcripts (splice variants), 206 orthologues and 6 paralogues. Broad expression in heart (RPKM 48.5), adrenal (RPKM 34.3) and 23 other tissues.

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 influencing the structure of the erythrocyte membrane skeleton. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]

TMOD1 Products (2)

mRNA Protein Name
NM_001166116.2 NP_001159588.1 tropomodulin-1
NM_003275.4 NP_003266.1 tropomodulin-1
Molecular Function GO Annotation Evidence References Source
enables actin binding IDA
IDA: Inferred from direct assay
26370058 GOA
Cellular Component GO Annotation Evidence References Source
part of COP9 signalosome IDA
IDA: Inferred from direct assay
18850735 GOA
located in actin filament IDA
IDA: Inferred from direct assay
26370058 GOA
located in myofibril IDA
IDA: Inferred from direct assay
26370058 GOA
located in sarcomere IDA
IDA: Inferred from direct assay
26370058 GOA
located in striated muscle thin filament IDA
IDA: Inferred from direct assay
25250574 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMOD1 Protein Structure

Tropomodulin

Tropomodulin: Tropomodulin (2 - 144)

  • 0
  • 100
  • 200
  • 300
  • 359 a.a.
Protein Preferred Names Protein Names

tropomodulin-1

  • E-Tmod

Related Diseases

Diseases Alias
Corneal Dystrophy, Endothelial, X-Linked
  • X-Linked Endothelial Corneal Dystrophy

  • XECD

  • Endothelial Corneal Dystrophy, X-Linked

Congenital Structural Myopathy
Corneal Dystrophy, Posterior Polymorphous, 1
  • Posterior Polymorphous Corneal Dystrophy

  • Ppcd

  • Maumenee Corneal Dystrophy

  • Posterior Polymorphous Corneal Dystrophy 1

  • PPCD1

  • Corneal Dystrophy, Hereditary Polymorphous Posterior

  • Corneal Endothelial Dystrophy 1, Autosomal Dominant

  • Schlichting Dystrophy

  • Ched1

  • Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

  • Ched1, Formerly

  • Hereditary Polymorphus Posterior Corneal Dystrophy

  • Posterior Polymorphous Dystrophy

  • Hereditary Polymorphous Posterior Corneal Dystrophy

  • Dystrophy, Corneal, Posterior Polymorphous

  • Dystrophy, Corneal, Posterior Polymorphous, Type 1

  • Polymorphous Corneal Dystrophy

  • Corneal Endothelial Dystrophy 2

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

  • Berdon Syndrome

  • MMIHS

  • Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

  • Megacystis, Microcolon, Hypoperistalsis Syndrome

  • Visceral Myopathy

  • Mmih Syndrome

  • Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

  • MMIHS1

  • Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

  • Mmhs

Dilated Cardiomyopathy
  • Familial Dilated Cardiomyopathy

  • Primary Dilated Cardiomyopathy

  • Idiopathic Dilated Cardiomyopathy

  • Congestive Cardiomyopathy

  • Idiopathic Dilation Cardiomyopathy

  • Primary Familial Dilated Cardiomyopathy

  • Cardiomyopathy, Dilated

  • DCM

  • Cardiomyopathy, Familial Dilated

  • Dilated Cardiomyopathy, Familial

  • Hypokinetic Dilated Cardiomyopathy, Familial

  • Familial Idiopathic Cardiomyopathy

  • Fdc

  • Cardiomyopathy, Familial Idiopathic

  • Idiopathic Cardiomegaly

  • Dilated Congestive Cardiomyopathy

  • Chronic Dilated Cardiomyopathy

  • Ccm - [Congestive Cardiomyopathy]

  • Cocm - [Congestive Cardiomyopathy]

  • Dcm - [Dilated Cardiomyopathy]

  • Dilated-Hypokinetic Cardiomyopathy

  • Congestive Idiopathic Cardiomyopathy

  • Primary Idiopathic Dilated Cardiomyopathy

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus TMOD1 MGD MGI:98775
Bos taurus TMOD1 VGNC VGNC:36135
Rattus norvegicus TMOD1 RGD RGD:3874
Macaca mulatta TMOD1 VGNC VGNC:78570
Felis catus TMOD1 VGNC VGNC:66378
Canis familiaris TMOD1 VGNC VGNC:47623
Others TMOD1 NCBI