Human Gene LMX1A (ENST00000342310.7_7) from GENCODE V47lift37
  Description: LIM homeobox transcription factor 1 alpha, transcript variant 1 (from RefSeq NM_177398.4)
Gencode Transcript: ENST00000342310.7_7
Gencode Gene: ENSG00000162761.14_10
Transcript (Including UTRs)
   Position: hg19 chr1:165,171,104-165,325,952 Size: 154,849 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr1:165,173,117-165,324,796 Size: 151,680 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:165,171,104-165,325,952)mRNA (may differ from genome)Protein (382 aa)
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BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LMX1A_HUMAN
DESCRIPTION: RecName: Full=LIM homeobox transcription factor 1-alpha; AltName: Full=LIM/homeobox protein 1.1; Short=LMX-1.1; AltName: Full=LIM/homeobox protein LMX1A;
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).
SUBCELLULAR LOCATION: Nucleus (By similarity).
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.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SIMILARITY: Contains 2 LIM zinc-binding domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.41 RPKM in Pituitary
Total median expression: 5.24 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -178.30383-0.466 Picture PostScript Text
3' UTR -685.402013-0.340 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like
IPR001781 - Znf_LIM

Pfam Domains:
PF00046 - Homeodomain
PF00412 - LIM domain
PF05920 - Homeobox KN domain

SCOP Domains:
46689 - Homeodomain-like
57716 - Glucocorticoid receptor-like (DNA-binding domain)

ModBase Predicted Comparative 3D Structure on Q8TE12
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0001558 regulation of cell growth
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0007613 memory
GO:0007626 locomotory behavior
GO:0010468 regulation of gene expression
GO:0021542 dentate gyrus development
GO:0021549 cerebellum development
GO:0021766 hippocampus development
GO:0021953 central nervous system neuron differentiation
GO:0030182 neuron differentiation
GO:0030901 midbrain development
GO:0042048 olfactory behavior
GO:0045665 negative regulation of neuron differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050808 synapse organization
GO:0071542 dopaminergic neuron differentiation
GO:1904948 midbrain dopaminergic neuron differentiation

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AK127724 - Homo sapiens cDNA FLJ45824 fis, clone NT2RP8003490, highly similar to LIM homeobox transcription factor 1 alpha.
AK122800 - Homo sapiens cDNA FLJ16375 fis, clone TKIDN2003078, highly similar to LIM/HOMEOBOX PROTEIN LMX1A.
BC160062 - Synthetic construct Homo sapiens clone IMAGE:100063998, MGC:193177 LIM homeobox transcription factor 1, alpha (LMX1A) mRNA, encodes complete protein.
AB463837 - Synthetic construct DNA, clone: pF1KB9714, Homo sapiens LMX1A gene for LIM homeobox transcription factor 1, alpha, without stop codon, in Flexi system.
BC066353 - Homo sapiens LIM homeobox transcription factor 1, alpha, mRNA (cDNA clone IMAGE:4825854), complete cds.
BC119743 - Homo sapiens LIM homeobox transcription factor 1, alpha, mRNA (cDNA clone IMAGE:40119206), complete cds.
BC119744 - Homo sapiens LIM homeobox transcription factor 1, alpha, mRNA (cDNA clone IMAGE:40119207), complete cds.
JD368012 - Sequence 349036 from Patent EP1572962.
JD429335 - Sequence 410359 from Patent EP1572962.
JD172310 - Sequence 153334 from Patent EP1572962.
JF432394 - Synthetic construct Homo sapiens clone IMAGE:100073596 LIM homeobox transcription factor 1, alpha (LMX1A) gene, encodes complete protein.
KJ901555 - Synthetic construct Homo sapiens clone ccsbBroadEn_10949 LMX1A gene, encodes complete protein.
JD331927 - Sequence 312951 from Patent EP1572962.
JD235790 - Sequence 216814 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KXP6, ENST00000342310.1, ENST00000342310.2, ENST00000342310.3, ENST00000342310.4, ENST00000342310.5, ENST00000342310.6, LMX1A_HUMAN, NM_177398, Q0VDB5, Q5VWG4, Q8TE11, Q8TE12, uc317whq.1, uc317whq.2
UCSC ID: ENST00000342310.7_7
RefSeq Accession: NM_177398.4
Protein: Q8TE12 (aka LMX1A_HUMAN or LMXA_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
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