Lmod1 leiomodin 1 (smooth muscle) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lmod1provided by MGI
Official Full Name: leiomodin 1 (smooth muscle)provided by MGI
Primary source: MGI:MGI:2135671
See related: Ensembl:ENSMUSG00000048096 AllianceGenome:MGI:2135671
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: SM-Lmod; 9530015K06Rik
Summary: Predicted to enable tropomyosin binding activity. Predicted to be involved in actin cytoskeleton organization; muscle contraction; and positive regulation of actin filament polymerization. Predicted to be located in actin filament; cytosol; and sarcomere. Predicted to be active in striated muscle thin filament. Is expressed in several structures, including aorta; genitourinary system; gut; inner ear; and musculature. Human ortholog(s) of this gene implicated in megacystis-microcolon-intestinal hypoperistalsis syndrome. Orthologous to human LMOD1 (leiomodin 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in bladder adult (RPKM 75.2), colon adult (RPKM 16.3) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 E4; 1 58.51 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (135252551..135295803)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (135324813..135368065)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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
enables tropomyosin binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin nucleation	ISO Inferred from Sequence Orthology more info
involved_in actin nucleation	ISS Inferred from Sequence or Structural Similarity 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
involved_in positive regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in actin filament	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
located_in myofibril	ISO Inferred from Sequence Orthology more info
located_in myofibril	ISS Inferred from Sequence or Structural Similarity more info
located_in sarcomere	ISO Inferred from Sequence Orthology more info
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

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)

NM_053106.2 → NP_444336.2 leiomodin-1

See identical proteins and their annotated locations for NP_444336.2

Status: VALIDATED

Source sequence(s)

AC016814, AK079173

Consensus CDS

CCDS35718.1

UniProtKB/Swiss-Prot

Q8BVA4

UniProtKB/TrEMBL

F8VPR1

Related

ENSMUSP00000061597.3, ENSMUST00000059352.3

Conserved Domains (2) summary

cd00116
Location:315 → 446

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:7 → 108

Tropomodulin; Tropomodulin