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TMOD1 tropomodulin 1 [ Homo sapiens (human) ]

Gene ID: 7111, updated on 1-Jun-2020

Summary

Official Symbol
TMOD1provided by HGNC
Official Full Name
tropomodulin 1provided by HGNC
Primary source
HGNC:HGNC:11871
See related
Ensembl:ENSG00000136842 MIM:190930
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

Genomic context

See TMOD1 in Genome Data Viewer
Location:
9q22.33
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (97501180..97601743)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100263462..100367177)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376167 Neighboring gene tudor domain containing 7 Neighboring gene GATA motif-containing MPRA enhancer 268 Neighboring gene uncharacterized LOC105376168 Neighboring gene thiosulfate sulfurtransferase like domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 9871 Neighboring gene uncharacterized LOC105376171 Neighboring gene nuclear cap binding protein subunit 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
actin binding IDA
Inferred from Direct Assay
more info
PubMed 
actin filament binding IEA
Inferred from Electronic Annotation
more info
 
tropomyosin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
lens fiber cell development IEA
Inferred from Electronic Annotation
more info
 
muscle contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
muscle filament sliding TAS
Traceable Author Statement
more info
 
myofibril assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pointed-end actin filament capping IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with COP9 signalosome IDA
Inferred from Direct Assay
more info
PubMed 
actin filament IDA
Inferred from Direct Assay
more info
PubMed 
cortical cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 
myofibril IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
myofibril IDA
Inferred from Direct Assay
more info
PubMed 
sarcomere IDA
Inferred from Direct Assay
more info
PubMed 
striated muscle thin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
striated muscle thin filament IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tropomodulin-1
Names
E-Tmod
e-tropomodulin
erythrocyte tropomodulin

NCBI Reference Sequences (RefSeq)

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)

  1. NM_001166116.1NP_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
    P28289
    Related
    ENSP00000378637.2, ENST00000395211.6
    Conserved Domains (2) summary
    cd00116
    Location:191314
    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:3143
    Tropomodulin; Tropomodulin
  2. NM_003275.4NP_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
    P28289
    Related
    ENSP00000259365.3, ENST00000259365.9
    Conserved Domains (2) summary
    cd00116
    Location:191314
    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:3143
    Tropomodulin; Tropomodulin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    97501180..97601743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447660.1XP_024303428.1  tropomodulin-1 isoform X1

    Related
    ENSP00000364318.1, ENST00000375175.1
    Conserved Domains (1) summary
    cl26161
    Location:55178
    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 ...
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