• Gene id: 80712

Gene Summary

• Gene Symbol: ESX1   Gene   UCSC   Ensembl
• Aliases: ESX1L, ESXR1
• Gene name: ESX homeobox 1
• Alternate names: homeobox protein ESX1, ESX1-related protein, extraembryonic, spermatogenesis, homeobox 1 homolog,
• Gene location: Xq22.2 (104254917: 104250037)     Exons: 4     NC_000023.11
• Gene summary(Entrez): 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 t
• OMIM: 300154

Protein Summary

• Protein general information: Q8N693  
  • Name: Homeobox protein ESX1 (Extraembryonic, spermatogenesis, homeobox 1) [Cleaved into: Homeobox protein ESX1 N; Homeobox protein ESX1 C]
  • Length: 406  
  • Mass: 44,297
• Sequence:

  MESLRGYTHSDIGYRSLAVGEDIEEVNDEKLTVTSLMARGGEDEENTRSKPEYGTEAENNVGTEGSVPSDDQDRE
  GGGGHEPEQQQEEPPLTKPEQQQEEPPLLELKQEQEEPPQTTVEGPQPAEGPQTAEGPQPPERKRRRRTAFTQFQ
  LQELENFFDESQYPDVVARERLAARLNLTEDRVQVWFQNRRAKWKRNQRVLMLRNTATADLAHPLDMFLGGAYYA
  APALDPALCVHLVPQLPRPPVLPVPPMPPRPPMVPMPPRPPIAPMPPMAPVPPGSRMAPVPPGPRMAPVPPWPPM
  APVPPWPPMAPVPTGPPMAPVPPGPPMARVPPGPPMARVPPGPPMAPLPPGPPMAPLPPGPPMAPLPPGPPMAPL
  PPRSHVPHTGLAPVHITWAPVINSYYACPFF

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR013847  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000361669
• Other Databases: GeneCards:  ESX1  Malacards:  ESX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	IDA	molecular function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	IMP	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0051726	regulation of cell cycle	IDA	biological process
GO:0060713	labyrinthine layer morphogenesis	IEA	biological process
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	IDA	molecular function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	IMP	molecular function
GO:0001568	blood vessel development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006357	regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0051726	regulation of cell cycle	IDA	biological process
GO:0060713	labyrinthine layer morphogenesis	IEA	biological process
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IDA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	IDA	molecular function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding	IMP	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0051726	regulation of cell cycle	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Azoospermia	MIK: 20356899
Non obstructive azoospermia	MIK: 25316452
Spermatogenesis defects	MIK: 25316452
Spermatogenesis defects	MIK: 20356899
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 9245514
Azoospermia	MIK: 20356899
Non-obstructive azoospermia	MIK: 25316452

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25316452	Spermatogenesis, non-obstructive azoospermic			87 (70 NOA, 8 with obstructive azoospermic (OA), 9 normozoospermic women)	Male infertility
20356899	Azoospermia, impaired spermatogenesis			81 azoospermic cases, 33 obstructive azoospermia, 18 hypospermatogenesis, 2 incomplete maturation arrest (MA)	Male infertility	ESX1
9245514	Assocaited with male germ cell development				Male infertility
9256347	May play a role in regulation of spermatogenesis				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881