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LMOD1 leiomodin 1 [ Homo sapiens (human) ]

Gene ID: 25802, updated on 10-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
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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

General gene information

Clone Names

  • FLJ55689

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding  
enables tropomyosin binding  
Process Evidence Code Pubs
involved_in actin filament organization  
involved_in actin nucleation PubMed 
involved_in muscle contraction  
involved_in myofibril assembly  
involved_in pointed-end actin filament capping  
involved_in positive regulation of actin filament polymerization PubMed 
Component Evidence Code Pubs
located_in actin filament  
is_active_in cytoskeleton  
located_in cytosol  
located_in cytosol  
located_in membrane PubMed 
is_active_in myofibril  
located_in myofibril PubMed 
located_in sarcomere  
is_active_in striated muscle thin filament  

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)

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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_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)
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