LMOD1 leiomodin 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spatiotemporal heterogeneity of LMOD1 expression summarizes two modes of cell communication in colorectal cancer.
Title: Spatiotemporal heterogeneity of LMOD1 expression summarizes two modes of cell communication in colorectal cancer.
LMOD1, an oncogene associated with Lauren classification, regulates the metastasis of gastric cancer cells through the FAK-AKT/mTOR pathway.
Title: LMOD1, an oncogene associated with Lauren classification, regulates the metastasis of gastric cancer cells through the FAK-AKT/mTOR pathway.
Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation.
Title: Loss-of-function variants within LMOD1 actin-binding site 2 cause pediatric intestinal pseudo-obstruction by impairing protein stability and actin nucleation.
rs34091558 is the top regulatory variant for LMOD1 in vascular tissues. This genetic variation is associated with dysregulated LMOD1 expression/function in smooth muscle cells, contributing to the heritable risk for coronary artery disease.
Title: Functional regulatory mechanism of smooth muscle cell-restricted LMOD1 coronary artery disease locus.
Loss of LMOD1 results in a reduction of filamentous actin, elongated cytoskeletal dense bodies, and impaired intestinal smooth muscle contractility.
Title: Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice.
Key role for miR-214 in modulation of MEF2C-MYOCD-LMOD1 signaling.
Title: MEF2C-MYOCD and Leiomodin1 Suppression by miRNA-214 Promotes Smooth Muscle Cell Phenotype Switching in Pulmonary Arterial Hypertension.
LMOD1, SYNPO2, PDLIM7, PLN, and SYNM down-regulation reflect the altered phenotype of smooth muscle cells in vascular disease and could be early sensitive markers of SMC dedifferentiation.
Title: Phenotypic Modulation of Smooth Muscle Cells in Atherosclerosis Is Associated With Downregulation of LMOD1, SYNPO2, PDLIM7, PLN, and SYNM.
Lmod1 is a new SMC-restricted SRF/MYOCD target gene.
Title: Leiomodin 1, a new serum response factor-dependent target gene expressed preferentially in differentiated smooth muscle cells.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

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

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

LMOD1_9413 (e-PCR)
- UniSTS:468501

SHGC-30325 (e-PCR)
- UniSTS:54104

D1S3353 (e-PCR)
- UniSTS:76986

RH70834 (e-PCR)
- UniSTS:62678

D1S1171 (e-PCR)
- UniSTS:53998

RH48177 (e-PCR)
- UniSTS:12532

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

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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.