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TMOD4 tropomodulin 4 [ Homo sapiens (human) ]

Gene ID: 29765, updated on 3-Apr-2024

Summary

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Official Symbol
TMOD4provided by HGNC
Official Full Name
tropomodulin 4provided by HGNC
Primary source
HGNC:HGNC:11874
See related
Ensembl:ENSG00000163157 MIM:605834; AllianceGenome:HGNC:11874
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SK-TMOD
Summary
Predicted to enable tropomyosin binding activity. Predicted to be involved in actin filament organization; muscle contraction; and myofibril assembly. Located in striated muscle thin filament. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in prostate (RPKM 6.3), esophagus (RPKM 3.1) and 4 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1q21.3
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151169987..151175981, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150293716..150299938, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (151142463..151148457, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151104130-151104914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1313 Neighboring gene semaphorin 6C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1315 Neighboring gene TNFAIP8L2-SCNM1 readthrough Neighboring gene LysM domain containing 1 Neighboring gene TNF alpha induced protein 8 like 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:151137860-151138565 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:151138566-151139272 Neighboring gene sodium channel modifier 1 Neighboring gene vacuolar protein sorting 72 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1711 Neighboring gene uncharacterized LOC124904419 Neighboring gene phosphatidylinositol-4-phosphate 5-kinase type 1 alpha

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Genomic organization of Tropomodulins 2 and 4 and unusual intergenic and intraexonic splicing of YL-1 and Tropomodulin 4. Cox PR, et al. BMC Genomics, 2001. PMID 11716785, Free PMC Article
  2. The N-terminal end of nebulin interacts with tropomodulin at the pointed ends of the thin filaments. McElhinny AS, et al. J Biol Chem, 2001 Jan 5. PMID 11016930
  3. Identification of a novel tropomodulin isoform, skeletal tropomodulin, that caps actin filament pointed ends in fast skeletal muscle. Almenar-Queralt A, et al. J Biol Chem, 1999 Oct 1. PMID 10497209
  4. Sequencing, expression analysis, and mapping of three unique human tropomodulin genes and their mouse orthologs. Cox PR, et al. Genomics, 2000 Jan 1. PMID 10662549
  5. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. Yuen M, et al. J Clin Invest, 2014 Nov. PMID 25250574, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp779I0852

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
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 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
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in myofibril IBA
Inferred from Biological aspect of Ancestor
more info
  
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-4
Names
actin-capping protein
skeletal muscle tropomodulin
skeletal tropomodulin
tropomodulin 4 (muscle)

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)

  1. NM_013353.3 → NP_037485.2  tropomodulin-4

    See identical proteins and their annotated locations for NP_037485.2

    Status: VALIDATED

    Source sequence(s)
    AF177173
    Consensus CDS
    CCDS988.1
    UniProtKB/Swiss-Prot
    B7Z6N9, Q5JR83, Q8WVL3, Q9NZQ9, Q9UKH2
    UniProtKB/TrEMBL
    B2R891
    Related
    ENSP00000295314.4, ENST00000295314.9
    Conserved Domains (2) summary
    pfam03250
    Location:4 → 143
    Tropomodulin
    cl39015
    Location:184 → 286
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    151169987..151175981 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509449.2 → XP_011507751.1  tropomodulin-4 isoform X1

    See identical proteins and their annotated locations for XP_011507751.1

    UniProtKB/Swiss-Prot
    B7Z6N9, Q5JR83, Q8WVL3, Q9NZQ9, Q9UKH2
    UniProtKB/TrEMBL
    B2R891
    Conserved Domains (2) summary
    pfam03250
    Location:4 → 143
    Tropomodulin
    cl39015
    Location:184 → 286
    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 ...

  2. XM_017001090.3 → XP_016856579.1  tropomodulin-4 isoform X2

  3. XM_047418672.1 → XP_047274628.1  tropomodulin-4 isoform X1

    UniProtKB/Swiss-Prot
    B7Z6N9, Q5JR83, Q8WVL3, Q9NZQ9, Q9UKH2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    150293716..150299938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054336173.1 → XP_054192148.1  tropomodulin-4 isoform X1

    UniProtKB/Swiss-Prot
    B7Z6N9, Q5JR83, Q8WVL3, Q9NZQ9, Q9UKH2

  2. XM_054336172.1 → XP_054192147.1  tropomodulin-4 isoform X1

    UniProtKB/Swiss-Prot
    B7Z6N9, Q5JR83, Q8WVL3, Q9NZQ9, Q9UKH2

  3. XM_054336174.1 → XP_054192149.1  tropomodulin-4 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NZQ9.1 GenPept UniProtKB/Swiss-Prot:Q9NZQ9

Gene LinkOut

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