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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
Location 1q23.3      Physical location : 165.171.104 - 165.325.952
Synonym name
  • LIM/homeobox protein 1.1
  • Synonym symbol(s) LMX1-1, LMX-1, LMX1
    DNA
    TYPE functioning gene
    STRUCTURE 154.85 kb     9 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC284680 1q23.2 hypothetical protein LOC284680 EAT2 1q22 Homo sapiens SH2 domain-containing molecule EAT2 (EAT2), mRNA. KIS 1q23.2 kinase interacting with leukemia-associated gene (stathmin) UAP1 1q23.1 UDP-N-acteylglucosamine pyrophosphorylase 1 DDR2 1q21-q23 discoidin domain receptor family, member 2 HSD17B7 17p11.2 hydroxysteroid (17-beta) dehydrogenase 7 MGC48998 1q23.2 hypothetical protein MGC48998 RGS4 1q23.2 regulator of G-protein signalling 4 RGS5 1q23 regulator of G-protein signalling 5 CDCA1 1q23.1 cell division cycle associated 1 LOC388711 1 hypothetical gene supported by BC037210; NM_005342 PBX1 1q23 pre-B-cell leukemia transcription factor 1 LMX1A 1q22-q23 LIM homeobox transcription factor 1, alpha RXRG 1q22-q23 retinoid X receptor, gamma LOC284684 1q23.2 similar to cDNA sequence BC004853 LOC391125 1 similar to ribosomal protein S2; 40S ribosomal protein S2 MGST3 1q23 microsomal glutathione S-transferase 3 ALDH9A1 1q22-q23 aldehyde dehydrogenase 9 family, member A1 LOC54499 1q22-q25 putative membrane protein LOC391126 1 similar to 60S ribosomal protein L26 UMPK 1p34.1-p33 uridine monophosphate kinase LOC391127 1 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC149297 1q23.3 similar to RIKEN cDNA C030014K22 gene LOC284685 1q23.3 similar to Ewing sarcoma breakpoint region 1 isoform EWS LOC391128 1 similar to hypothetical protein 4831428F09 LOC116123 1q23.3 hypothetical protein BC014341 LOC391129 1 similar to ribosomal protein L4; 60S ribosomal protein L4; homologue of Xenopus ribosomal protein L1 POGK 1q23.2 pogo transposable element with KRAB domain STAF42 1q23.3 SPT3-associated factor 42 LOC388712 1 similar to dJ782G3.1 (LISCH7 (liver-specific BHLH-ZIP transcription factor)) FLJ14904 1q23.3 hypothetical protein FLJ14904 GPA33 1q23.2 glycoprotein A33 (transmembrane) LOC92235 1q22-q24 hypothetical cardiac/skeletal muscle-expressed ORF LOC391130 1 similar to ribosomal protein S17 POU2F1 1q22-q23 POU domain, class 2, transcription factor 1 CD3Z 1q22-q23 CD3Z antigen, zeta polypeptide (TiT3 complex) SRD5BP1 1q23-q25 steroid-5-beta-reductase, beta polypeptide pseudogene 1 CREG 1q24 cellular repressor of E1A-stimulated genes MGC21854 1q22-q24 hypothetical protein MGC21854 MPZL1 1q23.2 myelin protein zero-like 1 FLJ21047 1q23.3 hypothetical protein FLJ21047 SAC DKFZP564B167 1q24 DKFZP564B167 protein
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 3555 42.7 382 widely and fetal brain 2002 12062816
    - - 2657 - 133 testis 2002 12062816
    9 - 3366 - 382 - 2002 12062816
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumearinner  highly Homo sapiensFetal
    Nervousbrainmidbrain    Homo sapiens
     brainhindbraincerebellum   Homo sapiens
    Reproductivemale systemprostate  moderately
     male systemtestis  specific
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Endocrineislet cell (alpha,beta...)
    Nervousdopaminergic 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
  • dopamine transporter 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