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Aliases for ESX1 Gene

Aliases for ESX1 Gene

  • ESX Homeobox 1 2 3 5
  • ESX1L 3 4
  • Extraembryonic, Spermatogenesis, Homeobox 1 Homolog (Mouse) 2
  • Extraembryonic, Spermatogenesis, Homeobox 1 Homolog 3
  • Extraembryonic, Spermatogenesis, Homeobox 1 4
  • ESX1-Related Protein 3
  • ESXR1 3
  • ESX1R 4

External Ids for ESX1 Gene

Previous HGNC Symbols for ESX1 Gene

  • ESX1L

Previous GeneCards Identifiers for ESX1 Gene

  • GC0XM103381
  • GC0XM103494
  • GC0XM093122

Summaries for ESX1 Gene

Entrez Gene Summary for ESX1 Gene

  • This gene encodes a dual-function 65 kDa protein that undergoes proteolytic cleavage to produce a 45 kDa N-terminal fragment with a paired-like homeodomain and a 20 kDa C-terminal fragment with a proline-rich domain. The C-terminal fragment localizes to the cytoplasm while the N-terminal fragment localizes exclusively to the nucleus. In contrast to human, the mouse homolog has a novel PN/PF motif in the C-terminus and is paternally imprinted in placental tissue. This gene likely plays a role in placental development and spermatogenesis. [provided by RefSeq, Jan 2010]

GeneCards Summary for ESX1 Gene

ESX1 (ESX Homeobox 1) is a Protein Coding gene. Diseases associated with ESX1 include Skeletal Tuberculosis. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include sequence-specific DNA binding and transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding. An important paralog of this gene is RHOXF2.

UniProtKB/Swiss-Prot for ESX1 Gene

  • May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5-TAATGTTATTA-3 which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover.

Gene Wiki entry for ESX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESX1 Gene

Genomics for ESX1 Gene

Regulatory Elements for ESX1 Gene

Enhancers for ESX1 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 ESX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ESX1 Gene

Chromosome:
X
Start:
104,250,038 bp from pter
End:
104,254,933 bp from pter
Size:
4,896 bases
Orientation:
Minus strand

Genomic View for ESX1 Gene

Genes around ESX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESX1 Gene

Proteins for ESX1 Gene

  • Protein details for ESX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N693-ESX1_HUMAN
    Recommended name:
    Homeobox protein ESX1
    Protein Accession:
    Q8N693
    Secondary Accessions:
    • B0QYU3
    • Q7Z6K7

    Protein attributes for ESX1 Gene

    Size:
    406 amino acids
    Molecular mass:
    44297 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ESX1 Gene

Proteomics data for ESX1 Gene at MOPED

Post-translational modifications for ESX1 Gene

  • Undergoes proteolytic cleavage; produces a 45 kDa N-terminal homeodomain-containing fragment (ESXR1-N) and a 20 kDa C-terminal fragment (ESXR1-C).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ESX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for ESX1

No data available for DME Specific Peptides for ESX1 Gene

Domains & Families for ESX1 Gene

Gene Families for ESX1 Gene

Protein Domains for ESX1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N693

UniProtKB/Swiss-Prot:

ESX1_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
Domain:
  • Contains 1 homeobox DNA-binding domain.
genes like me logo Genes that share domains with ESX1: view

Function for ESX1 Gene

Molecular function for ESX1 Gene

UniProtKB/Swiss-Prot Function:
May coordinately regulate cell cycle progression and transcription during spermatogenesis. Inhibits degradation of polyubiquitinated cyclin A and cyclin B1 and thereby arrests the cell cycle at early M phase. ESXR1-N acts as a transcriptional repressor. Binds to the sequence 5-TAATGTTATTA-3 which is present within the first intron of the KRAS gene and inhibits its expression. ESXR1-C has the ability to inhibit cyclin turnover.

Gene Ontology (GO) - Molecular Function for ESX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IMP 15897875
genes like me logo Genes that share ontologies with ESX1: view
genes like me logo Genes that share phenotypes with ESX1: view

Animal Model Products

miRNA for ESX1 Gene

miRTarBase miRNAs that target ESX1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ESX1 Gene

Localization for ESX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESX1 Gene

Cytoplasm. Nucleus. Note=ESXR1-N localizes specifically to the nucleus while ESXR1-C localizes specifically to the cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ESX1 Gene COMPARTMENTS Subcellular localization image for ESX1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for ESX1 Gene

Pathways & Interactions for ESX1 Gene

genes like me logo Genes that share pathways with ESX1: view

Pathways by source for ESX1 Gene

Interacting Proteins for ESX1 Gene

Gene Ontology (GO) - Biological Process for ESX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 15897875
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0045892 negative regulation of transcription, DNA-templated IDA 15897875
GO:0060713 labyrinthine layer morphogenesis IEA --
genes like me logo Genes that share ontologies with ESX1: view

No data available for SIGNOR curated interactions for ESX1 Gene

Drugs & Compounds for ESX1 Gene

No Compound Related Data Available

Transcripts for ESX1 Gene

mRNA/cDNA for ESX1 Gene

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

Unigene Clusters for ESX1 Gene

ESX homeobox 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ESX1 Gene

No ASD Table

Relevant External Links for ESX1 Gene

GeneLoc Exon Structure for
ESX1
ECgene alternative splicing isoforms for
ESX1

Expression for ESX1 Gene

mRNA expression in normal human tissues for ESX1 Gene

mRNA differential expression in normal tissues according to GTEx for ESX1 Gene

This gene is overexpressed in Testis (x52.4).

SOURCE GeneReport for Unigene cluster for ESX1 Gene Hs.223782

mRNA Expression by UniProt/SwissProt for ESX1 Gene

Q8N693-ESX1_HUMAN
Tissue specificity: Expressed in placenta and testis. Expressed in testicular germ cell tumors.
genes like me logo Genes that share expression patterns with ESX1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for ESX1 Gene

Orthologs for ESX1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for ESX1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ESX1 35
  • 63.71 (n)
  • 47.78 (a)
ESX1 36
  • 41 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ESX1 35
  • 96.11 (n)
  • 91.62 (a)
ESX1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ESX1 36
  • 48 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Esx1 36
  • 25 (a)
OneToOne
Species with no ortholog for ESX1:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for ESX1 Gene

ENSEMBL:
Gene Tree for ESX1 (if available)
TreeFam:
Gene Tree for ESX1 (if available)

Paralogs for ESX1 Gene

Paralogs for ESX1 Gene

genes like me logo Genes that share paralogs with ESX1: view

Variants for ESX1 Gene

Sequence variations from dbSNP and Humsavar for ESX1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs9697856 - 104,250,509(+) CCCGG(G/T)TGGCA reference, missense
rs1010446 -- 104,251,066(+) ATGTG(C/T)TAGTG intron-variant
rs5962665 -- 104,255,406(+) TTACC(C/T)CGCAG upstream-variant-2KB
rs6621797 -- 104,252,008(+) TTTTT(G/T)GTTTC intron-variant
rs6621798 -- 104,252,861(+) GTATT(C/T)GGAGT intron-variant

Variation tolerance for ESX1 Gene

Residual Variation Intolerance Score: 53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.34; 53.63% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Relevant External Links for ESX1 Gene

Disorders for ESX1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ESX1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
skeletal tuberculosis
  • osteoarticular tuberculosis
- elite association - COSMIC cancer census association via MalaCards
Search ESX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ESX1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ESX1
genes like me logo Genes that share disorders with ESX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ESX1 Gene

Publications for ESX1 Gene

  1. ESX1L, a novel X chromosome-linked human homeobox gene expressed in the placenta and testis. (PMID: 11374906) Fohn L.E. … Behringer R.R. (Genomics 2001) 2 3 4 67
  2. Mapping and identification of candidate loci responsible for Peromyscus hybrid overgrowth. (PMID: 17242862) Loschiavo M. … Vrana P.B. (Mamm. Genome 2007) 2 3
  3. Molecular and morphologic analyses of expression of ESX1L in different stages of human placental development. (PMID: 15601583) Figueiredo A.L. … Porto L.C. (J. Cell. Mol. Med. 2004) 3 23
  4. ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men. (PMID: 25316452) Pansa A. … Tabano S. (Hum. Reprod. 2014) 3
  5. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3

Products for ESX1 Gene

Sources for ESX1 Gene

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