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Aliases for LMX1A Gene

Aliases for LMX1A Gene

  • LIM Homeobox Transcription Factor 1 Alpha 2 3
  • LIM Homeobox Transcription Factor 1, Alpha 2 3 5
  • LIM/Homeobox Protein 1.1 3 4
  • LIM/Homeobox Protein LMX1A 4
  • LMX-1.1 4
  • LMX1.1 3
  • LMX1 3

External Ids for LMX1A Gene

Previous HGNC Symbols for LMX1A Gene

  • LMX1

Previous GeneCards Identifiers for LMX1A Gene

  • GC01U990100
  • GC01M160823
  • GC01M161868
  • GC01M162360
  • GC01M162358
  • GC01M161902
  • GC01M163437
  • GC01M136417

Summaries for LMX1A Gene

Entrez Gene Summary for LMX1A Gene

  • This gene encodes a homeodomain and LIM-domain containing protein. The encoded protein is a transcription factor that acts as a positive regulator of insulin gene transcription. This gene also plays a role in the development of dopamine producing neurons during embryogenesis. Mutations in this gene are associated with an increased risk of developing Parkinson's disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

GeneCards Summary for LMX1A Gene

LMX1A (LIM Homeobox Transcription Factor 1 Alpha) is a Protein Coding gene. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is LHX4.

UniProtKB/Swiss-Prot for LMX1A Gene

  • Acts 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 (By similarity).

Gene Wiki entry for LMX1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMX1A Gene

Genomics for LMX1A Gene

Regulatory Elements for LMX1A Gene

Genomic Location for LMX1A Gene

Chromosome:
1
Start:
165,201,867 bp from pter
End:
165,356,715 bp from pter
Size:
154,849 bases
Orientation:
Minus strand

Genomic View for LMX1A Gene

Genes around LMX1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMX1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMX1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMX1A Gene

Proteins for LMX1A Gene

  • Protein details for LMX1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE12-LMX1A_HUMAN
    Recommended name:
    LIM homeobox transcription factor 1-alpha
    Protein Accession:
    Q8TE12
    Secondary Accessions:
    • B3KXP6
    • Q0VDB5
    • Q5VWG4
    • Q8TE11

    Protein attributes for LMX1A Gene

    Size:
    382 amino acids
    Molecular mass:
    42747 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for LMX1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMX1A Gene

Proteomics data for LMX1A Gene at MOPED

Post-translational modifications for LMX1A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LMX1A Gene

Antibody Products

No data available for DME Specific Peptides for LMX1A Gene

Domains & Families for LMX1A Gene

Gene Families for LMX1A Gene

Protein Domains for LMX1A Gene

Suggested Antigen Peptide Sequences for LMX1A Gene

Graphical View of Domain Structure for InterPro Entry

Q8TE12

UniProtKB/Swiss-Prot:

LMX1A_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
Domain:
  • Contains 1 homeobox DNA-binding domain.
  • Contains 2 LIM zinc-binding domains.
genes like me logo Genes that share domains with LMX1A: view

Function for LMX1A Gene

Molecular function for LMX1A Gene

GENATLAS Biochemistry:
transcriptional regulator of insulin gene,with the LIM-homeo domain (lmx-1),expressed in pancreatic islets,expressed in limb mesenchyme through WNT7A induction,involved in dorsoventral polarity of vertebrate limb (dorsal differentiation)
UniProtKB/Swiss-Prot Function:
Acts 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 (By similarity).
genes like me logo Genes that share phenotypes with LMX1A: view

Animal Models for LMX1A Gene

MGI Knock Outs for LMX1A:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LMX1A Gene

Localization for LMX1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMX1A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LMX1A Gene COMPARTMENTS Subcellular localization image for LMX1A gene
Compartment Confidence
nucleus 5
golgi apparatus 3
cytosol 2
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for LMX1A Gene

Pathways & Interactions for LMX1A Gene

SuperPathways for LMX1A Gene

No Data Available

Gene Ontology (GO) - Biological Process for LMX1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007411 axon guidance IEA --
GO:0007417 central nervous system development IEA --
GO:0007420 brain development IEA --
GO:0021542 dentate gyrus development IEA --
genes like me logo Genes that share ontologies with LMX1A: view

No data available for Pathways by source and SIGNOR curated interactions for LMX1A Gene

Drugs & Compounds for LMX1A Gene

No Compound Related Data Available

Transcripts for LMX1A Gene

mRNA/cDNA for LMX1A Gene

(7) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LMX1A Gene

LIM homeobox transcription factor 1, alpha:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LMX1A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - - -
SP2: - - -
SP3:

Relevant External Links for LMX1A Gene

GeneLoc Exon Structure for
LMX1A
ECgene alternative splicing isoforms for
LMX1A

Expression for LMX1A Gene

mRNA expression in normal human tissues for LMX1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LMX1A Gene

This gene is overexpressed in Pituitary (x14.1) and Testis (x7.4).

Protein differential expression in normal tissues from HIPED for LMX1A Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LMX1A Gene



SOURCE GeneReport for Unigene cluster for LMX1A Gene Hs.667312

mRNA Expression by UniProt/SwissProt for LMX1A Gene

Q8TE12-LMX1A_HUMAN
Tissue specificity: Isoform 1 is expressed in many tissues. Not found in heart, liver, spleen and testis. Relatively highly expressed in fetal brain. Isoform LMX1A-4AB is expressed in testis.
genes like me logo Genes that share expression patterns with LMX1A: view

Protein tissue co-expression partners for LMX1A Gene

Primer Products

In Situ Assay Products

Orthologs for LMX1A Gene

This gene was present in the common ancestor of animals.

Orthologs for LMX1A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LMX1A 35
  • 94.07 (n)
  • 97.38 (a)
LMX1A 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LMX1A 35
  • 93.11 (n)
  • 98.43 (a)
LMX1A 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmx1a 35
  • 90.92 (n)
  • 97.12 (a)
Lmx1a 16
Lmx1a 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LMX1A 35
  • 99.65 (n)
  • 100 (a)
LMX1A 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lmx1a 35
  • 91.1 (n)
  • 97.38 (a)
oppossum
(Monodelphis domestica)
Mammalia LMX1A 36
  • 94 (a)
OneToOne
chicken
(Gallus gallus)
Aves LMX1A 35
  • 80.96 (n)
  • 87.11 (a)
LMX1A 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMX1A 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492433 35
  • 72.49 (n)
  • 76.19 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12464 35
zebrafish
(Danio rerio)
Actinopterygii Dr.13964 35
lmx1a 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG32105 36
  • 25 (a)
ManyToMany
CG4328 36
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea lim-6 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
ManyToMany
-- 36
  • 32 (a)
ManyToMany
Species with no ortholog for LMX1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMX1A Gene

ENSEMBL:
Gene Tree for LMX1A (if available)
TreeFam:
Gene Tree for LMX1A (if available)

Paralogs for LMX1A Gene

Paralogs for LMX1A Gene

(11) SIMAP similar genes for LMX1A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LMX1A: view

Variants for LMX1A Gene

Sequence variations from dbSNP and Humsavar for LMX1A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs931883 -- 165,315,512(+) GGTTA(A/G)AATAA intron-variant
rs931884 -- 165,324,107(-) CCTGC(A/G)ATGTG intron-variant
rs905760 -- 165,221,944(-) TGTGC(A/G)TGTGT intron-variant
rs906264 -- 165,311,576(+) TACCA(C/T)ACCAA intron-variant
rs906265 -- 165,316,797(+) TTGGA(A/G)AGAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LMX1A Gene

Variant ID Type Subtype PubMed ID
esv2719084 CNV Deletion 23290073
esv1005410 CNV Deletion 20482838
esv1310421 CNV Deletion 17803354
esv2678124 CNV Deletion 23128226

Variation tolerance for LMX1A Gene

Residual Variation Intolerance Score: 15.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LMX1A Gene

HapMap Linkage Disequilibrium report
LMX1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMX1A Gene

Disorders for LMX1A Gene

Relevant External Links for LMX1A

Genetic Association Database (GAD)
LMX1A
Human Genome Epidemiology (HuGE) Navigator
LMX1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LMX1A

No disorders were found for LMX1A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for LMX1A Gene

Publications for LMX1A Gene

  1. Cloning, expression and genomic structure of human LMX1A, and variant screening in Pima Indians. (PMID: 12062816) Thameem F. … Prochazka M. (Gene 2002) 3 4 48 67
  2. Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2: tissue- specific expression and linkage mapping on chromosome 9. (PMID: 9441763) Iannotti C.A. … Permutt M.A. (Genomics 1997) 3 23
  3. Localization of the genes encoding two transcription factors, LMX1 and CDX3, regulating insulin gene expression to human chromosomes 1 and 13. (PMID: 7698771) German M.S. … Bell G.I. (Genomics 1994) 2 3
  4. Efficient differentiation of human embryonic stem cells toward dopaminergic neurons using recombinant LMX1A factor. (PMID: 25380985) Fathi A. … Baharvand H. (Mol. Biotechnol. 2015) 3
  5. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3

Products for LMX1A Gene

Sources for LMX1A Gene

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