LMX1A

LMX1A
Identifiers
Aliases	LMX1A,LMX1, LMX1.1, LIM homeobox transcription factor 1 alpha, DFNA7
External IDs	OMIM:600298;MGI:1888519;HomoloGene:24921;GeneCards:LMX1A;OMA:LMX1A - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q23.3 Start 165,201,867bp End 165,356,715bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 H2.3|1 75.08 cM Start 167,516,806bp End 167,676,310bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in testicle apex of heart muscle of thigh pituitary gland anterior pituitary gastric mucosa left testis rectum right testis subcutaneous adipose tissue Top expressed in choroid plexus of lateral ventricle choroid plexus of fourth ventricle otic vesicle notochord yolk sac Neural groove zygote neural fold extraocular muscle Neurogenic placodes More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding DNA binding sequence-specific DNA binding metal ion binding RNA polymerase II transcription regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process neuron differentiation cerebellum development multicellular organism development midbrain development central nervous system development regulation of transcription, DNA-templated axon guidance dentate gyrus development transcription, DNA-templated negative regulation of neuron differentiation central nervous system neuron differentiation hippocampus development regulation of cell growth brain development dopaminergic neuron differentiation regulation of gene expression positive regulation of transcription by RNA polymerase II synapse organization olfactory behavior memory locomotory behavior midbrain dopaminergic neuron differentiation transcription by RNA polymerase II Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 4009 110648 Ensembl ENSG00000162761 ENSMUSG00000026686 UniProt Q8TE12 Q9JKU8 RefSeq (mRNA) NM_001033507 NM_001174069 NM_177398 NM_177399 NM_033652 RefSeq (protein) NP_001167540 NP_796372 NP_387501 Location (UCSC) Chr 1: 165.2 – 165.36 Mb Chr 1: 167.52 – 167.68 Mb PubMedsearch
Wikidata
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LIM homeobox transcription factor 1, alpha,also known asLMX1A,is aproteinwhich in humans is encoded by theLMX1Agene.

Function

Insulinis produced exclusively by thebeta cellsin the islets of Langerhans in the pancreas. The level and beta-cell specificity of insulin gene expression are regulated by a set of nuclear genes that bind to specific sequences within the promoter of the insulin geneINSand interact with RNA polymerase to activate or repress transcription. LMX1 is aLIMhomeoboxtranscription factorthat binds an A/T-rich sequence in the insulin promoter and stimulates transcription of insulin.

Interactions

LMX1A has been shown tointeractwithTCF3andLHX3.

Further reading

• German MS, Wang J, Chadwick RB, Rutter WJ (1992)."Synergistic activation of the insulin gene by a LIM-homeo domain protein and a basic helix-loop-helix protein: building a functional insulin minienhancer complex".Genes Dev.6(11): 2165–76.doi:10.1101/gad.6.11.2165.PMID1358758.
• German MS, Wang J, Fernald AA, Espinosa R, Le Beau MM, Bell GI (1994). "Localization of the genes encoding two transcription factors, LMX1 and CDX3, regulating insulin gene expression to human chromosomes 1 and 13".Genomics.24(2): 403–4.doi:10.1006/geno.1994.1639.PMID7698771.
• Jurata LW, Gill GN (1997)."Functional analysis of the nuclear LIM domain interactor NLI".Mol. Cell. Biol.17(10): 5688–98.doi:10.1128/MCB.17.10.5688.PMC232417.PMID9315627.
• Iannotti CA, Inoue H, Bernal E, Aoki M, Liu L, Donis-Keller H, German MS, Permutt MA (1997). "Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue-specific expression and linkage mapping on chromosome 9".Genomics.46(3): 520–4.doi:10.1006/geno.1997.5075.PMID9441763.
• Jurata LW, Pfaff SL, Gill GN (1998)."The nuclear LIM domain interactor NLI mediates homo- and heterodimerization of LIM domain transcription factors".J. Biol. Chem.273(6): 3152–7.doi:10.1074/jbc.273.6.3152.PMID9452425.
• Thameem F, Wolford JK, Wang J, German MS, Bogardus C, Prochazka M (2002). "Cloning, expression and genomic structure of human LMX1A, and variant screening in Pima Indians".Gene.290(1–2): 217–25.doi:10.1016/S0378-1119(02)00582-6.PMID12062816.
• Millen KJ, Millonig JH, Hatten ME (2004)."Roof plate and dorsal spinal cord dl1 interneuron development in the dreher mutant mouse".Dev. Biol.270(2): 382–92.doi:10.1016/j.ydbio.2004.03.008.PMID15183721.
• Hassel S, Eichner A, Yakymovych M, Hellman U, Knaus P, Souchelnytskyi S (2004). "Proteins associated with type II bone morphogenetic protein receptor (BMPR-II) and identified by two-dimensional gel electrophoresis and mass spectrometry".Proteomics.4(5): 1346–58.doi:10.1002/pmic.200300770.PMID15188402.S2CID6773754.