Homo sapiens Gene: ESX1
Summary
InnateDB Gene IDBG-80974.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ESX1
Gene Name ESX homeobox 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000123576
Encoded Proteins
ESX homeobox 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome X:104250038-104254933
Strand Reverse strand
Band q22.2
Transcripts
ENST00000372588 ENSP00000361669
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 4 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0001227 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677 DNA binding
GO:0043565 sequence-specific DNA binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001568 blood vessel development
GO:0006351 transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0045892 negative regulation of transcription, DNA-templated
GO:0051726 regulation of cell cycle
GO:0060713 labyrinthine layer morphogenesis
GO:0060716 labyrinthine layer blood vessel development
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
Orthologs
No orthologs found for this gene
Cross-References
SwissProt Q8N693
TrEMBL A6ZIT2 A6ZIU4
UniProt Splice Variant
Entrez Gene 80712
UniGene Hs.223782
RefSeq NM_153448
HUGO HGNC:14865
OMIM 300154
CCDS CCDS14516
HPRD
IMGT
EMBL AL049631 AY114148 BC042633 BC053599 CH471120 EF695424 EF695436
GenPept AAH42633 AAH53599 AAM62141 ABS01462 ABS01474 CAQ08095 EAX02755
RNA Seq Atlas 80712