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LMOD1 leiomodin 1 [ Homo sapiens (human) ]

Gene ID: 25802, updated on 12-Jun-2021

Summary

Official Symbol
LMOD1provided by HGNC
Official Full Name
leiomodin 1provided by HGNC
Primary source
HGNC:HGNC:6647
See related
Ensembl:ENSG00000163431 MIM:602715
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
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (201896456..201946548, complement)
105.20201022 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 microRNA 6739 Neighboring gene Sharpr-MPRA regulatory region 2190 Neighboring gene shisa family member 4 Neighboring gene translocase of inner mitochondrial membrane 17A 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
Genetic variants associated with breast size also influence breast cancer risk.
GeneReviews: Not available
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3
MedGen: CN296939 OMIM: 619362 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
Process Evidence Code Pubs
involved_in actin filament organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in muscle contraction TAS
Traceable Author Statement
more info
 
involved_in myofibril assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 

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
    P29536
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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