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    TMOD1 tropomodulin 1 [ Homo sapiens (human) ]

    Gene ID: 7111, updated on 17-Jun-2024

    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
    NEW
    Try the new Gene table
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    Genomic context

    See TMOD1 in Genome Data Viewer
    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_000009.12Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr9:100161577-100161764 Neighboring gene uncharacterized LOC286359 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr9:100174359-100174860 and GRCh37_chr9:100174861-100175360 Neighboring gene tudor domain containing 7 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:100226535-100227734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20101 Neighboring gene GATA motif-containing MPRA enhancer 268 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28664 Neighboring gene uncharacterized LOC105376168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100278102-100278602 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28666 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:100293128-100293286 Neighboring gene Sharpr-MPRA regulatory region 7780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100318031-100318532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:100319241-100319742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28667 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:100335093-100335332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28670 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28671 Neighboring gene Sharpr-MPRA regulatory region 9871 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:100396128-100396963 Neighboring gene thiosulfate sulfurtransferase like domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28674 Neighboring gene nuclear cap binding protein subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28675 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20102 Neighboring gene XPA, DNA damage recognition and repair factor Neighboring gene keratin 18 pseudogene 13 Neighboring gene papillary thyroid carcinoma susceptibility candidate 2

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001166116.2NP_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: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
      B2RB77, P28289, Q5T7W3, Q9BUF1
      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: 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_000009.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_047423825.1XP_047279781.1  tropomodulin-1 isoform X1

      Related
      ENSP00000364318.1, ENST00000375175.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      109673130..109773684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363710.1XP_054219685.1  tropomodulin-1 isoform X1