ESX1 (ESX homeobox 1)

Gene

• Entrez ID: 80712
• Gene name: ESX homeobox 1
• Gene symbol: ESX1
• Synonyms (NCBI Gene): ESX1L, ESXR1
• Chromosome: X
• Chromosome location: Xq22.2
• 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 t

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018679	hsa-miR-335-5p	Microarray	18185580
MIRT971111	hsa-miR-1207-5p	CLIP-seq
MIRT971112	hsa-miR-3126-3p	CLIP-seq
MIRT971113	hsa-miR-3128	CLIP-seq
MIRT971114	hsa-miR-3133	CLIP-seq
MIRT971115	hsa-miR-3148	CLIP-seq
MIRT971116	hsa-miR-3978	CLIP-seq
MIRT971117	hsa-miR-4511	CLIP-seq
MIRT971118	hsa-miR-4720-5p	CLIP-seq
MIRT971119	hsa-miR-4736	CLIP-seq
MIRT971120	hsa-miR-4763-3p	CLIP-seq
MIRT971121	hsa-miR-4799-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	15897875
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP	15897875
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	15897875
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP	15897875
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	15235584
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	15235584
GO:0005737	Component	Cytoplasm	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0016607	Component	Nuclear speck	IDA
GO:0043565	Function	Sequence-specific DNA binding	IDA	15897875
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	15897875
GO:0048666	Process	Neuron development	IBA
GO:0051726	Process	Regulation of cell cycle	IDA	15235584
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 300154
• HGNC: 14865
• e!Ensembl: ENSG00000123576

Protein

• UniProt ID: Q8N693
• Protein name: Homeobox protein ESX1 (Extraembryonic, spermatogenesis, homeobox 1) [Cleaved into: Homeobox protein ESX1-N; Homeobox protein ESX1-C]
• Protein 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 re
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	140 → 196	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in placenta and testis. Expressed in testicular germ cell tumors. {ECO:0000269|PubMed:11374906, ECO:0000269|PubMed:15235584}.
• Sequence:

  MESLRGYTHSDIGYRSLAVGEDIEEVNDEKLTVTSLMARGGEDEENTRSKPEYGTEAENN
  VGTEGSVPSDDQDREGGGGHEPEQQQEEPPLTKPEQQQEEPPLLELKQEQEEPPQTTVEG
  PQPAEGPQTAEGPQPPERKRRRRTAFTQFQLQELENFFDESQYPDVVARERLAARLNLTE
  DRVQVWFQNRRAKWKRNQRVLMLRNTATADLAHPLDMFLGGAYYAAPALDPALCVHLVPQ
  LPRPPVLPVPPMPPRPPMVPMPPRPPIAPMPPMAPVPPGSRMAPVPPGPRMAPVPPWPPM
  APVPPWPPMAPVPTGPPMAPVPPGPPMARVPPGPPMARVPPGPPMAPLPPGPPMAPLPPG
  PPMAPLPPGPPMAPLPPRSHVPHTGLAPVHITWAPVINSYYACPFF

• Sequence length: 406

Pathways

KEGG:

Signaling pathways regulating pluripotency of stem cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs782108131	RCV003991607	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ESX1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	BEFREE	31793700		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	33633269	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582, 37783880	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	31822682		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	37783880	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15897875		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31822682		★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	20356899		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	20356899		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	37783880	Associate	★☆☆☆☆ Found in Text Mining only