Human Gene EMX1 (ENST00000258106.11) Description and Page Index
  Description: Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA. (from RefSeq NM_004097)
Gencode Transcript: ENST00000258106.11
Gencode Gene: ENSG00000135638.14
Transcript (Including UTRs)
   Position: hg38 chr2:72,917,519-72,934,891 Size: 17,373 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg38 chr2:72,917,853-72,933,954 Size: 16,102 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:72,917,519-72,934,891)mRNA (may differ from genome)Protein (290 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
Stanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: EMX1_HUMAN
DESCRIPTION: RecName: Full=Homeobox protein EMX1; AltName: Full=Empty spiracles homolog 1; AltName: Full=Empty spiracles-like protein 1;
FUNCTION: Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous system.
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Cerebral cortex.
SIMILARITY: Belongs to the EMX homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAH45762.2; Type=Erroneous initiation;

-  MalaCards Disease Associations
  MalaCards Gene Search: EMX1
Diseases sorted by gene-association score: kallmann syndrome (2)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 14.59 RPKM in Kidney - Cortex
Total median expression: 38.64 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -203.10334-0.608 Picture PostScript Text
3' UTR -422.50937-0.451 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
IPR020479 - Homeobox_metazoa
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like

Pfam Domains:
PF00046 - Homeobox domain

ModBase Predicted Comparative 3D Structure on Q04741
FrontTopSide
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
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0001701 in utero embryonic development
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007420 brain development
GO:0009791 post-embryonic development
GO:0021537 telencephalon development
GO:0021796 cerebral cortex regionalization
GO:0021895 cerebral cortex neuron differentiation
GO:0021987 cerebral cortex development
GO:0030182 neuron differentiation
GO:0042493 response to drug
GO:0048854 brain morphogenesis
GO:0048872 homeostasis of number of cells
GO:0060019 radial glial cell differentiation
GO:0060563 neuroepithelial cell differentiation
GO:0070445 regulation of oligodendrocyte progenitor proliferation
GO:1990138 neuron projection extension

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  BC037242 - Homo sapiens empty spiracles homeobox 1, mRNA (cDNA clone IMAGE:5198260), complete cds.
BC045762 - Homo sapiens empty spiracles homeobox 1, mRNA (cDNA clone MGC:48662 IMAGE:5260039), complete cds.
AB463604 - Synthetic construct DNA, clone: pF1KB8214, Homo sapiens EMX1 gene for empty spiracles homeobox 1, without stop codon, in Flexi system.
X68879 - H.sapiens EMX1 mRNA.
AK092368 - Homo sapiens cDNA FLJ35049 fis, clone OCBBF2018014.

-  Other Names for This Gene
  Alternate Gene Symbols: EMX1_HUMAN, NM_004097, Q04741, Q0D2P0, Q53T30, Q86XB0, uc002sin.1, uc002sin.2
UCSC ID: uc002sin.2
RefSeq Accession: NM_004097
Protein: Q04741 (aka EMX1_HUMAN)
CCDS: CCDS1921.2

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.