TMOD1 tropomodulin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TMOD1provided by HGNC
Official Full Name: tropomodulin 1provided by HGNC
Primary source: HGNC:HGNC:11871
See related: Ensembl:ENSG00000136842 MIM:190930; AllianceGenome:HGNC:11871
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TMOD; ETMOD; D9S57E
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]
Expression: Broad expression in heart (RPKM 48.5), adrenal (RPKM 34.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q22.33

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (97501180..97601743)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (109673130..109773684)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (100263462..100364025)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Recessive TMOD1 mutation causes childhood cardiomyopathy.
Title: Recessive TMOD1 mutation causes childhood cardiomyopathy.
Suggestive evidence of the genetic association of TMOD1 and PTCSC2 polymorphisms with thyroid carcinoma in the Chinese Han population.
Title: Suggestive evidence of the genetic association of TMOD1 and PTCSC2 polymorphisms with thyroid carcinoma in the Chinese Han population.
Tropomodulins Control the Balance between Protrusive and Contractile Structures by Stabilizing Actin-Tropomyosin Filaments.
Title: Tropomodulins Control the Balance between Protrusive and Contractile Structures by Stabilizing Actin-Tropomyosin Filaments.
MicroRNA-885 regulates the growth and epithelial mesenchymal transition of human liver cancer cells by suppressing tropomodulin 1 expression.
Title: MicroRNA-885 regulates the growth and epithelial mesenchymal transition of human liver cancer cells by suppressing tropomodulin 1 expression.
Targeted regulation of miR-17-5p on TMOD1 promotes the development of cardia cancer.
Title: Targeted regulation of miR-17-5p on TMOD1 promotes the development of cardia cancer.
Tmod1 function in mouse and human erythroblasts, was investigated.
Title: Tropomodulin 1 controls erythroblast enucleation via regulation of F-actin in the enucleosome.
The mutation reduced binding affinity for both Lmod2 and Tmod1. The effect of the K15N mutation on Tpm1.1 binding to Lmod2 and Tmod1 provides a molecular rationale for the development of familial dilated cardiomyopathies .
Title: Localization of the binding interface between leiomodin-2 and α-tropomyosin.
Study highlighted a novel TMOD1-mediated link between NF-kappaB activation and MMP13 induction, which accounts in part for the NF-kappaB-dependent malignant phenotype of TNBC.
Title: Tropomodulin 1 expression driven by NF-κB enhances breast cancer growth.
Tmod1 and Tmod3 showed somewhat different tropomyosin-binding site utilization.
Title: Functional effects of mutations in the tropomyosin-binding sites of tropomodulin1 and tropomodulin3.
The structures and biochemical analysis of structure-inspired mutants showed that one Tmod molecule interacts with three actin subunits at the pointed end, while also contacting two tropomyosin molecules on each side of the filament.
Title: Mechanism of actin filament pointed-end capping by tropomodulin.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed
The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S1702 (e-PCR)
- UniSTS:18457

TMOD1 (e-PCR)
- UniSTS:506143

Tmod1 (e-PCR), detects polymorphism
- UniSTS:464697

TMOD1__5100 (e-PCR)
- UniSTS:466514

WI-11414 (e-PCR)
- UniSTS:4494

RH78518 (e-PCR)
- UniSTS:13459

SHGC-85067 (e-PCR)
- UniSTS:185023

STS-M77016 (e-PCR)
- UniSTS:49369

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables tropomyosin binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in lens fiber cell development	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in pointed-end actin filament capping	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
located_in actin filament	IDA Inferred from Direct Assay more info	PubMed
located_in cortical cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
located_in myofibril	IDA Inferred from Direct Assay more info	PubMed
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed
is_active_in striated muscle thin filament	IBA Inferred from Biological aspect of Ancestor more info
located_in striated muscle thin filament	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tropomodulin-1

Names: E-Tmod; e-tropomodulin; erythrocyte tropomodulin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001166116.2 → NP_001159588.1 tropomodulin-1

See identical proteins and their annotated locations for NP_001159588.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AF131836, AK314533, AL162385, BC002660, BU783086

Consensus CDS

CCDS6726.1

UniProtKB/Swiss-Prot

B2RB77, P28289, Q5T7W3, Q9BUF1

Related

ENSP00000378637.2, ENST00000395211.6

Conserved Domains (2) summary

cd00116
Location:191 → 314

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

pfam03250
Location:3 → 143

Tropomodulin; Tropomodulin
NM_003275.4 → NP_003266.1 tropomodulin-1

See identical proteins and their annotated locations for NP_003266.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AF131836, BC002660, BU783086, DA015088

Consensus CDS

CCDS6726.1

UniProtKB/Swiss-Prot

B2RB77, P28289, Q5T7W3, Q9BUF1

Related

ENSP00000259365.3, ENST00000259365.9

Conserved Domains (2) summary

cd00116
Location:191 → 314

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

pfam03250
Location:3 → 143

Tropomodulin; Tropomodulin