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Aliases for EMX1 Gene

Aliases for EMX1 Gene

  • Empty Spiracles Homeobox 1 2 3 5
  • Empty Spiracles Homolog 1 (Drosophila) 2
  • Empty Spiracles-Like Protein 1 4
  • Empty Spiracles Homolog 1 4

External Ids for EMX1 Gene

Previous GeneCards Identifiers for EMX1 Gene

  • GC02P073154
  • GC02P073356
  • GC02P073119
  • GC02P073056
  • GC02P072880
  • GC02P073144
  • GC02P073148

Summaries for EMX1 Gene

GeneCards Summary for EMX1 Gene

EMX1 (Empty Spiracles Homeobox 1) is a Protein Coding gene. Diseases associated with EMX1 include kallmann syndrome. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is EN2.

UniProtKB/Swiss-Prot for EMX1 Gene

  • 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.

Gene Wiki entry for EMX1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMX1 Gene

Genomics for EMX1 Gene

Regulatory Elements for EMX1 Gene

Enhancers for EMX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EMX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EMX1 Gene

Chromosome:
2
Start:
72,911,148 bp from pter
End:
72,936,071 bp from pter
Size:
24,924 bases
Orientation:
Plus strand

Genomic View for EMX1 Gene

Genes around EMX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EMX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMX1 Gene

Proteins for EMX1 Gene

  • Protein details for EMX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04741-EMX1_HUMAN
    Recommended name:
    Homeobox protein EMX1
    Protein Accession:
    Q04741
    Secondary Accessions:
    • Q0D2P0
    • Q53T30
    • Q86XB0

    Protein attributes for EMX1 Gene

    Size:
    257 amino acids
    Molecular mass:
    28039 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH45762.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for EMX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EMX1 Gene

Proteomics data for EMX1 Gene at MOPED

Post-translational modifications for EMX1 Gene

No Post-translational modifications

Other Protein References for EMX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EMX1 Gene

Domains & Families for EMX1 Gene

Gene Families for EMX1 Gene

Suggested Antigen Peptide Sequences for EMX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04741

UniProtKB/Swiss-Prot:

EMX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the EMX homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the EMX homeobox family.
genes like me logo Genes that share domains with EMX1: view

Function for EMX1 Gene

Molecular function for EMX1 Gene

GENATLAS Biochemistry:
Drosophila empty spiracles (ems) homolog 1,Dres93,mouse homolog expressed in optic cup in early embryo (E9,5),homeo domain encoding gene involved in brain development
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for EMX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with EMX1: view
genes like me logo Genes that share phenotypes with EMX1: view

Animal Models for EMX1 Gene

MGI Knock Outs for EMX1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EMX1 Gene

Localization for EMX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMX1 Gene

Nucleus. Cytoplasm. Note=Might be shuttling between the nucleus and the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EMX1 Gene COMPARTMENTS Subcellular localization image for EMX1 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for EMX1 Gene

Pathways & Interactions for EMX1 Gene

SuperPathways for EMX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EMX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0021537 telencephalon development IEA --
GO:0021895 cerebral cortex neuron differentiation IEA --
GO:0021987 cerebral cortex development IEA --
genes like me logo Genes that share ontologies with EMX1: view

No data available for Pathways by source and SIGNOR curated interactions for EMX1 Gene

Drugs & Compounds for EMX1 Gene

No Compound Related Data Available

Transcripts for EMX1 Gene

Unigene Clusters for EMX1 Gene

Empty spiracles homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EMX1 Gene

No ASD Table

Relevant External Links for EMX1 Gene

GeneLoc Exon Structure for
EMX1
ECgene alternative splicing isoforms for
EMX1

Expression for EMX1 Gene

mRNA expression in normal human tissues for EMX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EMX1 Gene

This gene is overexpressed in Kidney - Cortex (x18.2), Brain - Frontal Cortex (BA9) (x8.4), Brain - Cortex (x8.3), and Brain - Anterior cingulate cortex (BA24) (x5.5).

SOURCE GeneReport for Unigene cluster for EMX1 Gene Hs.516090

mRNA Expression by UniProt/SwissProt for EMX1 Gene

Q04741-EMX1_HUMAN
Tissue specificity: Cerebral cortex.
genes like me logo Genes that share expression patterns with EMX1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for EMX1 Gene

Orthologs for EMX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EMX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EMX1 35
  • 94.1 (n)
  • 97.22 (a)
EMX1 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC483117 35
  • 95.97 (n)
  • 100 (a)
EMX1 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emx1 35
  • 91.18 (n)
  • 96.5 (a)
Emx1 16
Emx1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EMX1 35
  • 99.66 (n)
  • 99.31 (a)
EMX1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emx1 35
  • 89.31 (n)
  • 92.07 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 56 (a)
ManyToMany
chicken
(Gallus gallus)
Aves EMX1 35
  • 80.43 (n)
  • 86.07 (a)
EMX1 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMX1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia emx1.2 35
  • 76.25 (n)
  • 84.55 (a)
Str.5241 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
emx1 35
  • 71.01 (n)
  • 76.96 (a)
emx1 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta E5 36
  • 22 (a)
ManyToMany
ems 36
  • 23 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-2 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToMany
Species with no ortholog for EMX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 EMX1 Gene

ENSEMBL:
Gene Tree for EMX1 (if available)
TreeFam:
Gene Tree for EMX1 (if available)

Paralogs for EMX1 Gene

Paralogs for EMX1 Gene

(4) SIMAP similar genes for EMX1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EMX1: view

Variants for EMX1 Gene

Sequence variations from dbSNP and Humsavar for EMX1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1561247 -- 72,924,102(+) GAGTG(C/T)GGGGA intron-variant
rs753554 -- 72,934,318(+) TCCCT(A/G)TGGGA utr-variant-3-prime
rs1898442 -- 72,912,995(+) agaaa(C/T)agata utr-variant-5-prime
rs999494 -- 72,930,266(-) TTTAC(A/G)TCTGC intron-variant
rs2023462 -- 72,919,221(-) ATTGA(A/G)ACgtg intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for EMX1 Gene

Variant ID Type Subtype PubMed ID
nsv874266 CNV Loss 21882294
esv2677197 CNV Deletion 23128226

Variation tolerance for EMX1 Gene

Gene Damage Index Score: 0.20; 4.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EMX1 Gene

HapMap Linkage Disequilibrium report
EMX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMX1 Gene

Disorders for EMX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EMX1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
kallmann syndrome
  • familial hypogonadism with anosmia
- elite association - COSMIC cancer census association via MalaCards
Search EMX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EMX1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EMX1
genes like me logo Genes that share disorders with EMX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EMX1 Gene

Publications for EMX1 Gene

  1. Chromosome locations of human EMX and OTX genes. (PMID: 7959790) Kastury K. … Boncinelli E. (Genomics 1994) 2 3 23 67
  2. An atlas of combinatorial transcriptional regulation in mouse and man. (PMID: 20211142) Ravasi T. … Hayashizaki Y. (Cell 2010) 3
  3. WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (PMID: 20887964) Kim H.G. … Layman L.C. (Am. J. Hum. Genet. 2010) 3
  4. Emx1-lineage progenitors differentially contribute to neural diversity in the striatum and amygdala. (PMID: 20016109) Cocas L.A. … Corbin J.G. (J. Neurosci. 2009) 3
  5. Emx and Nfi genes regulate cortical development and axon guidance in the telencephalon. (PMID: 18494262) Piper M. … Richards L.J. (Novartis Found. Symp. 2007) 23

Products for EMX1 Gene

Sources for EMX1 Gene

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