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Gene : ESX1 Homo sapiens

Name  ? ESX homeobox 1 Cytological Location  Xq22.2
Brief Description  ESX homeobox 1
Description  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]
  • synonyms:
  • AL049631,
  • HGNC:14865,
  • ESX1,
  • NM_153448,
  • uc004ely.4,
  • ESXR1,
  • OTTHUMG00000022125,
  • ESX1L,
  • extraembryonic, spermatogenesis, homeobox 1 homolog (mouse),
  • ESXR1,
  • ESX1L
  • identifiers:
  • 80712,
  • ENSG00000123576,
  • ESX1

Genome feature

Region: gene ? Length: 4896  
Location: X:104250038-104254933 reverse strand Cyto location: Xq22.2


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

1 SN Ps

5 Cross References

15 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results