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FLASH GENE

Symbol

LMX1A

contributors: mct - updated : 29-05-2015

HGNC name	LIM homeobox transcription factor 1, alpha
HGNC id	6653

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

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 Hearing/Equilibrium ear inner     highly Homo sapiens Fetal Nervous brain midbrain       Homo sapiens   brain hindbrain cerebellum     Homo sapiens Reproductive male system prostate     moderately   male system testis     specific

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Nervous dopaminergic neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

Text	limb mesenchyme through WNT7A induction

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two N terminal cysteine-rich (LIM) domains (zinc-binding)
	an helix-turn-helix DNA binding domain (homeobox)

HOMOLOGY

interspecies	homolog to murine Lmx1a
	homolog to C. elegans lim-6

Homologene

FAMILY

LIM-homeodomain (LIM-HD) transcription factor family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	involved in dorsoventral polarity of vertebrate limb (dorsal differentiation) and patterning modulator of motor axon guidance
	transcriptional regulator of insulin gene, with the LIM-homeo domain (lmx-1)
	acting as a transcriptional activator by binding to an A/T-rich sequence, the FLAT element, in the insulin gene promoter
	required for development of the roof plate and, in turn, for specification of dorsal cell fates in the CNS and developing vertebrae
	being sufficient and required to trigger dopamine cell differentiation
	inducing the expression of MSX1 (early activity)
	is required for segregation of sensory epithelia and normal ear histogenesis and morphogenesis
	LMX1A and LMX1B cooperate with FOXA2 to coordinate the specification of dopaminergic neurons and control of floor plate cell differentiation in the developing mesencephalon
	is a critical regulator of cell-fate decisions within both these germinal zones
	its activity is critical for proper production of cells originating from both the cerebellar rhombic lip and the telencephalic cortical hem
	LMX1A and LMX1B function cooperatively to regulate proliferation, specification, and differentiation of mDA (midbrain dopaminergic neurons) progenitors, including their floor plate-like properties
	required for the development of midbrain dopaminergic neurons, roof plate formation, and cortical hem development
	early regulator of midbrain dopamine neural progenitor phenotype specification, also involved in the regulation of midbrain dopaminergic maturation by regulating gene expression of the dopamine transporter
	very potent inducer of stem cells towards dopaminergic neurons
	key midbrain dopamine (mDA) regulators (NR4A2, PITX3, and LMX1A) play overlapping as well as distinct roles during neurogenesis and neurotransmitter phenotype determination of mDA neurons
	is required for proper development of roof plate and cortical hem structures of the forebrain, as well as the development of floor plate and midbrain dopaminergic neurons

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

carbohydrate

signaling

WNT1-LMX1A pathway controls the midbrain dopaminergic neurons (mdDA) differentiation

a component

INTERACTION

DNA	binding to the FLAT element, an A/T-rich sequence, in the insulin gene promoter

RNA

small molecule	metal binding,
	Zn2+

protein	SLC6A3 is a direct target of LMX1A, emphasizing a novel role of LMX1A as one of regulators of mature midbrain dopaminergic neurotransmitter phenotypes
	is an activator of RGS4 and GRB10 and is responsible for the correct specification of rostral and medial mdDA neurons
	novel regulatory pathway where signaling from PRKDC appears to suppress midbrain-specific LMX1A expression
	ONECUT1 interacts with LMX1A to promote ventral midbrain neural stem cells (vmNSCs)differentiation into dopamine neuron through WNT1-LMX1A pathway

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Lmx1a/Lmx1b compound-null mutants fail to generate hindbrain roof plate