TMOD1 - tropomodulin 1 Gene

Homo sapiens

Also known as TMOD; ETMOD; D9S57E

Gene ID: 7111 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables actin binding	IDA IDA: Inferred from direct assay	26370058	GOA

Cellular Component GO Annotation	Evidence	Reference	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14759	TMOD1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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