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Aliases for LMX1A Gene

Aliases for LMX1A Gene

  • LIM Homeobox Transcription Factor 1, Alpha 2 3
  • LIM/Homeobox Protein 1.1 3 4
  • LMX1 3 6
  • LIM Homeobox Transcription Factor 1-Alpha 3
  • LIM/Homeobox Protein LMX1A 4
  • LMX-1.1 4
  • LMX1.1 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. Diseases associated with LMX1A include ovarian mucinous cystadenocarcinoma and mucinous cystadenocarcinoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

No data available for DME Specific Peptides for LMX1A Gene

Domains for LMX1A Gene

Gene Families for LMX1A Gene

HGNC:
  • LIM :Homeoboxes / LIM class

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 :
  • Q8TE12
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).

Gene Ontology (GO) - Molecular Function for LMX1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0008270 zinc ion binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with LMX1A: view
genes like me logo Genes that share phenotypes with LMX1A: view

Animal Models for LMX1A Gene

MGI Knock Outs for LMX1A:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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 3
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for LMX1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with LMX1A: view

Pathways 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:0001558 regulation of cell growth IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007411 axon guidance IEA --
GO:0007417 central nervous system development --
genes like me logo Genes that share ontologies with LMX1A: view

No data available for Pathways by source for LMX1A Gene

Transcripts for LMX1A Gene

mRNA/cDNA for LMX1A Gene

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 (14.1) and Testis (7.4).

Integrated Proteomics: protein expression 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-4B is expressed in testis.
genes like me logo Genes that share expressions with LMX1A: view

Orthologs for LMX1A Gene

This gene was present in the common ancestor of animals.

Orthologs for LMX1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMX1A 35
  • 99.65 (n)
  • 100 (a)
LMX1A 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia LMX1A 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lmx1a 35
  • 91.1 (n)
  • 97.38 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia Xl.12464 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492433 35
  • 72.49 (n)
  • 76.19 (a)
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

Selected 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 MAF
rs875821 -- 165,317,649(-) TCTGG(A/G)CCTGG intron-variant
rs875822 -- 165,317,326(-) TAAAA(A/C)TATTC intron-variant
rs883864 -- 165,284,768(+) ACCCA(C/G)CACCC intron-variant, upstream-variant-2KB
rs905760 -- 165,221,944(-) TGTGC(A/G)TGTGT intron-variant
rs906264 -- 165,311,576(+) TACCA(C/T)ACCAA 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

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

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for LMX1A Gene including...

Search for LMX1A Gene in MalaCards »

(2) University of Copenhagen DISEASES for LMX1A Gene

Relevant External Links for LMX1A

Genetic Association Database (GAD)
LMX1A
Human Genome Epidemiology (HuGE) Navigator
LMX1A
genes like me logo Genes that share disorders with LMX1A: view

No data available for UniProtKB/Swiss-Prot 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
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  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. 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
  5. Acetaminophen-NAPQI hepatotoxicity: a cell line model system genome-wide association study. (PMID: 21177773) Moyer A.M. … Weinshilboum R.M. (Toxicol. Sci. 2011) 3 48

Products for LMX1A Gene

Sources for LMX1A Gene

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