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Gene: ESX1 (ESX homeobox 1) Homo sapiens
Symbol: ESX1
Name: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ESX1-related protein; ESX1L; ESXR1; extraembryonic, spermatogenesis, homeobox 1 homolog; extraembryonic, spermatogenesis, homeobox 1-like; homeobox protein ESX1
Mus musculus (house mouse) : Esx1 (extraembryonic, spermatogenesis, homeobox 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Esx1 (ESX homeobox 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Esx1 (ESX homeobox 1)
Pan paniscus (bonobo/pygmy chimpanzee) : ESX1 (ESX homeobox 1)
Canis lupus familiaris (dog) : ESX1 (ESX homeobox 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Esx1 (ESX homeobox 1)
Sus scrofa (pig) : ESX1 (ESX homeobox 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X104,250,038 - 104,254,918 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X103,494,719 - 103,499,599 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X103,381,375 - 103,386,244 (-)NCBINCBI36hg18NCBI36
Build 34X103,300,864 - 103,305,733NCBI
CeleraX103,969,308 - 103,974,187 (-)NCBI
Cytogenetic MapXq22.2NCBI
HuRefX93,122,628 - 93,127,081 (-)NCBIHuRef
CHM1_1X103,405,584 - 103,410,463 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
More on ESX1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1350335
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-06-18
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.