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FLASH GENE

Symbol

LBX1

contributors: mct - updated : 10-04-2013

HGNC name	ladybird homeobox 1
HGNC id	16960

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	1.98 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_006562 2 - 1287 NP_006553 - 281 - 2003 12522123

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Mus musculus Adult Nervous spinal cord       highly Homo sapiens Adult   spinal cord       highly Homo sapiens Fetal

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum cardiac     Mus musculus Adult Muscular striatum skeletal     Mus musculus Adult Muscular striatum skeletal   highly Homo sapiens Adult Muscular striatum skeletal   highly Homo sapiens Fetal

cells

System Cell Pubmed Species Stage Rna symbol Muscular differentiated cell Mus musculus Adult

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	cardiac neural crest cells

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

one homeobox DNA-binding domain

HOMOLOGY

interspecies

ortholog to Drosophila lady bird

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in regulation of transcription
	involved in specification of a subpopulation of cardiac neural crest subsequent to migration
	transcription factor that determines neuronal cell fate and identity in the developing medulla and spinal cord
	play a role in the migration of muscle progenitor cells in limb buds and also in neuronal determination processes
	potential role in early myocardial development
	function in neural and muscle development--roles conserved from Drosophila to vertebrates
	may be implicated in the etiology of scoliosis through abnormal somatosensory function
	plays an essential role in specifying postmitotic dorsal interneuron populations during late pattern formation in the neural tube

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacts with LBXCOR1 which acts as a transcriptional corepressor
	directs expression of the known EMT inducers ZEB1, ZEB2, SNAI1, and transforming growth factor beta2 (TGFB2)
	CHMP2B is likely one of the most highly regulated cell-autonomous targets of LBX1 in the embryonic neural tube

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --other   aberrant expression of LBX1 may lead to the activation of a developmentally regulated EMT pathway in human breast cancer

Susceptibility

to adolescent idiopathic scoliosis

Variant & Polymorphism SNP	SNP rs11190870 associated with adolescent idiopathic scoliosis (PMID;

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Newborn Lbx1 mutant mice die of respiratory distress during the early postnatal period