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    TMOD4 tropomodulin 4 [ Homo sapiens (human) ]

    Gene ID: 29765, updated on 3-Nov-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, Nov 2024]
    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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    See TMOD4 in Genome Data Viewer
    Location:
    1q21.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (151169987..151175981, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (150293716..150299938, complement)
    RS_2024_09 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 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. 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
    3. 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
    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 (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    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_2024_08

    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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