Lbx1 ladybird homeobox 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lbx1provided by MGI
Official Full Name: ladybird homeobox 1provided by MGI
Primary source: MGI:MGI:104867
See related: Ensembl:ENSMUSG00000025216 AllianceGenome:MGI:104867
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: Lbx1h
Summary: Enables DNA-binding transcription factor activity. Acts upstream of or within several processes, including heart looping; negative regulation of glutamatergic neuron differentiation; and neuron differentiation. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; embryo mesenchyme; heart; skeletal musculature; and urinary system. Human ortholog(s) of this gene implicated in congenital central hypoventilation syndrome. Orthologous to human LBX1 (ladybird homeobox 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in CNS E14 (RPKM 1.3), cerebellum adult (RPKM 1.2) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 38.61 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (45221123..45225280, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (45232684..45236841, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Title: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3.
Abrogation of LBX1 in skeletal muscle results in hypoplastic limbs and progressive kyphosis in mice.
Title: Abrogation of LBX1 in skeletal muscle results in hypoplastic limbs and progressive kyphosis in mice.
Characterization of a novel Lbx1 mouse loss of function strain.
Title: Characterization of a novel Lbx1 mouse loss of function strain.
The Lbx1 lineage differentially contributes to inhibitory cell types of the dorsal cochlear nucleus, a cerebellum-like structure, and the cerebellum.
Title: The Lbx1 lineage differentially contributes to inhibitory cell types of the dorsal cochlear nucleus, a cerebellum-like structure, and the cerebellum.
Loss of LBX1 gene is associated with Hypoventilation.
Title: Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice.
Chmp2b is one of the most highly regulated cell-autonomous targets of Lbx1 in the embryonic mouse neural tube
Title: Population-specific regulation of Chmp2b by Lbx1 during onset of synaptogenesis in lateral association interneurons.
The respiratory rhythm generation within the pre-Botzinger complex (preBotC) is presumably functional in Lbx1 mutant mice with additional neurochemical drive.
Title: Central respiratory rhythmogenesis is abnormal in lbx1- deficient mice.
Functional analysis of homeodomain-containing transcription factor Lbx1 in satellite cells of mouse skeletal muscle is reported.
Title: Functional analysis of homeodomain-containing transcription factor Lbx1 in satellite cells of mouse skeletal muscle.
Corl1 interacted with Lbx1 and cooperatively repressed transcription, suggesting that it acts as a transcriptional corepressor for Lbx1 in regulating cell fate determination in the dorsal spinal cord.
Title: Corl1, a novel neuronal lineage-specific transcriptional corepressor for the homeodomain transcription factor Lbx1.
Inactivation of the Lbx1 gene in mice resulted in defects in heart looping, changes in gene expression pattern, and increased cell division; Pax3 and Lbx1 participate in negative regulatory feedback
Title: The homeobox gene Lbx1 specifies a subpopulation of cardiac neural crest necessary for normal heart development.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation
Targeted (8) 1 citation

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 DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of glutamatergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of glutamatergic neuron differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron fate determination	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neuron fate determination	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spinal cord motor neuron differentiation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
part_of transcription regulator complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor LBX1

Names: lady bird-like homeobox 1 homolog; ladybird homeobox protein homolog 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.