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    LMOD1 leiomodin 1 [ Homo sapiens (human) ]

    Gene ID: 25802, updated on 9-Dec-2024

    Summary

    Official Symbol
    LMOD1provided by HGNC
    Official Full Name
    leiomodin 1provided by HGNC
    Primary source
    HGNC:HGNC:6647
    See related
    Ensembl:ENSG00000163431 MIM:602715; AllianceGenome:HGNC:6647
    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
    1D; D1; 64kD; MMIHS3; SMLMOD; SM-LMOD
    Summary
    The leiomodin 1 protein has a putative membrane-spanning region and 2 types of tandemly repeated blocks. The transcript is expressed in all tissues tested, with the highest levels in thyroid, eye muscle, skeletal muscle, and ovary. Increased expression of leiomodin 1 may be linked to Graves' disease and thyroid-associated ophthalmopathy. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in endometrium (RPKM 75.4), prostate (RPKM 68.0) and 18 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LMOD1 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (201896456..201946548, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (201154211..201204217, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (201865584..201915676, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene importin 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:201837758-201837973 Neighboring gene microRNA 6739 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201851435-201851934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2323 Neighboring gene Sharpr-MPRA regulatory region 2190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2324 Neighboring gene shisa family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:201883337-201883837 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:201910579-201911528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2325 Neighboring gene translocase of inner mitochondrial membrane 17A Neighboring gene ReSE screen-validated silencer GRCh37_chr1:201939921-201940098 Neighboring gene small nucleolar RNA, H/ACA box 70H

    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

    Associated conditions

    Description Tests
    Megacystis-microcolon-intestinal hypoperistalsis syndrome 3
    MedGen: C5543513 OMIM: 619362 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ55689

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 actin nucleation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    involved_in positive regulation of actin filament polymerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in actin filament ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in striated muscle thin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    leiomodin-1
    Names
    64 kDa autoantigen 1D
    64 kDa autoantigen 1D3
    64 kDa autoantigen D1
    leimodin 1 (smooth muscle)
    leiomodin 1 (smooth muscle)
    leiomodin, muscle form
    smooth muscle leiomodin
    thyroid and eye muscle autoantigen D1 (64kD)
    thyroid-associated ophthalmopathy autoantigen

    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_012134.3NP_036266.2  leiomodin-1

      See identical proteins and their annotated locations for NP_036266.2

      Status: REVIEWED

      Source sequence(s)
      AC099676, AL513217
      Consensus CDS
      CCDS53457.1
      UniProtKB/Swiss-Prot
      B1APV6, C4AMB1, P29536, Q68EN2
      UniProtKB/TrEMBL
      B4DIX9
      Related
      ENSP00000356257.4, ENST00000367288.5
      Conserved Domains (2) summary
      pfam07404
      Location:159298
      TEBP_beta; Telomere-binding protein beta subunit (TEBP beta)
      pfam03250
      Location:783
      Tropomodulin; Tropomodulin

    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
      201896456..201946548 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      201154211..201204217 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)