ESX1 (ESX homeobox 1)

2014-11-01 Affiliation

Identity

HGNC

ESX1

LOCATION

Xq22.2

LOCUSID

80712

ALIAS

ESX1L,ESXR1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 80712
MIM: 300154
HGNC: 14865
Ensembl: ENSG00000123576

Variants:

dbSNP: 80712
ClinVar: 80712
TCGA: ENSG00000123576
COSMIC: ESX1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000123576	ENST00000372588	Q8N693

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Signaling pathways regulating pluripotency of stem cells	KEGG	hsa04550
Signaling pathways regulating pluripotency of stem cells	KEGG	ko04550

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37783880	2023	ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia.	0
37783880	2023	ESX1 gene as a potential candidate responsible for male infertility in nonobstructive azoospermia.	0
33633269	2021	Association of ESX1 gene variants with non-obstructive azoospermia in Chinese males.	3
33633269	2021	Association of ESX1 gene variants with non-obstructive azoospermia in Chinese males.	3
31793700	2020	Could analysis of testis-specific genes, as biomarkers in seminal plasma, predict presence of focal spermatogenesis in non-obstructive azoospermia?	6
31793700	2020	Could analysis of testis-specific genes, as biomarkers in seminal plasma, predict presence of focal spermatogenesis in non-obstructive azoospermia?	6
25316452	2014	ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men.	14
25316452	2014	ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men.	14
20356899	2010	ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men.	14
20356899	2010	ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men.	14
16613891	2006	Homeobox gene ESX1L expression is decreased in human pre-term idiopathic fetal growth restriction.	9
16613891	2006	Homeobox gene ESX1L expression is decreased in human pre-term idiopathic fetal growth restriction.	9
15235584	2004	Paired-like homeodomain protein ESXR1 possesses a cleavable C-terminal region that inhibits cyclin degradation.	8
15601583	2004	Molecular and morphologic analyses of expression of ESX1L in different stages of human placental development.	1
15235584	2004	Paired-like homeodomain protein ESXR1 possesses a cleavable C-terminal region that inhibits cyclin degradation.	8

Citation

Dessen P

ESX1 (ESX homeobox 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62924/esx1-(esx-homeobox-1)