ESX1 - ESX homeobox 1 Gene

Homo sapiens

Also known as ESX1L; ESXR1

Gene ID: 80712 | Gene type: protein coding

About ESX1

Cytogenetic location: Xq22.2 Genomic coordinates (GRCh38): X:104,250,038-104,254,933 (from NCBI)

This gene has 1 transcript (splice variant), 52 orthologues and 50 paralogues. Restricted expression toward testis (RPKM 5.2).

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 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]

ESX1 Products(1)

mRNA	Protein	Name
NM_153448.4	NP_703149.1	homeobox protein ESX1

ESX1 Protein Structure

Homeobox

0
100
200
300
406 a.a.

Protein Preferred Names

Protein Names

homeobox protein ESX1

ESX1-related protein

Related Diseases

Diseases

Alias

Pituitary Hypoplasia

Hypoplasia Of The Pituitary Gland

Adamantinous Craniopharyngioma

Adamantinous Rathke'S Pouch Tumor	Craniopharyngioma, Adamantinomatous
Adamantinomatous Craniopharyngioma

Isolated Growth Hormone Deficiency Type Iii

Congenital Ighd Type Iii	Congenital Isolated Gh Deficiency Type Iii
Congenital Isolated Growth Hormone Deficiency Type Iii	Fleisher Syndrome
Growth Hormone Deficiency With Hypogammaglobulinemia	Ighd Iii
X-Linked Ighd	X-Linked Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 3	X-Linked Agammaglobulinemia And Isolated Growth Hormone Deficiency
X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency	Agammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked
Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked	Ighd3
Growth Hormone Deficiency, Isolated, Type Iii )

Septooptic Dysplasia

Septo-Optic Dysplasia	De Morsier Syndrome
Growth Hormone Deficiency With Pituitary Anomalies	SOD
Pituitary Hormone Deficiency, Combined, 5	Septo-Optic Dysplasia Spectrum
Septo-Optic Dysplasia With Growth Hormone Deficiency	Pituitary Hormone Deficiency, Combined 5
Hypopituitarism And Septooptic 'Dysplasia'	GHDPA
CPHD5	Dysplasia, Septo-Optic
Kallmann Syndrome

Pituitary Hormone Deficiency, Combined, 2

Panhypopituitarism	Combined Pituitary Hormone Deficiency
CPHD2	Ateliotic Dwarfism With Hypogonadism
Pituitary Dwarfism Iii	Hanhart Dwarfism
Simmond'S Disease	Simmonds' Disease
Cphd	Pituitary Hormone Deficiency, Combined
Hormone Deficiency, Pituitary, Combined, Type 2	Pituitary Dwarfism Type 3
Sheehan Syndrome

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia	Bilateral Optic Nerve Hypoplasia
Optic Nerve Hypoplasia, Familial Bilateral	Familial Bilateral Optic Nerve Hypoplasia
Isolated Optic Nerve Hypoplasia/Aplasia	Optic Nerve Aplasia, Bilateral
Onh	BONH
Bilateral Optic Nerve Aplasia	Hypoplasia, Optic Nerve, Bilateral

Macular Dystrophy, Patterned, 1

Patterned Macular Dystrophy 1	MDPT1
Patterned Dystrophy Of Retinal Pigment Epithelium	Macular Dystrophy, Butterfly-Shaped Pigmentary
Butterfly Dystrophy Of Retinal Pigment Epithelium	Butterfly-Shaped Pigmentary Maculary Dystrophy 1
Dystrophy, Macular, Patterned, Type 1

Skeletal Tuberculosis

Tuberculosis, Osteoarticular

Osteoarticular Tuberculosis

Isolated Growth Hormone Deficiency

Congenital Ighd	Congenital Isolated Gh Deficiency
Congenital Isolated Growth Hormone Deficiency	Non-Acquired Isolated Growth Hormone Deficiency
Pituitary Dwarfism	Dwarfism, Pituitary
Isolated Somatotropin Deficiency	Isolated Congenital Growth Hormone Deficiency
Familial Isolated Growth Hormone Deficiency	Ighd
Dwarfism, Growth Hormone Deficiency	Growth Hormone Deficiency Dwarfism
Isolated Gh Deficiency	Isolated Hgh Deficiency
Isolated Human Growth Hormone Deficiency	Isolated Somatotropin Deficiency Disorder
Dwarfism Pituitary

Pituitary Gland Disease

Pituitary Diseases	Pituitary Dysfunction
Pituitary Disease	Pituitary Deficiency
Pituitary Disorders

Multidrug-Resistant Tuberculosis

Tuberculosis, Multidrug-Resistant

Tuberculosis Multidrug-Resistant

Culler-Jones Syndrome

Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome	CJS
Pallister-Hall Syndrome 2, Formerly	Phs2, Formerly
Pallister-Hall Syndrome 2	Phs2

Primary Bacterial Infectious Disease

Miliary Tuberculosis

Acute Miliary Tuberculosis	Disseminated Tuberculosis
Tuberculosis, Miliary	Generalized Tuberculosis
Tuberculosis Miliaris Disseminata	Tuberculosis Miliary
Tuberculosis Disseminated	Miliary Tb - [Tuberculosis]
Generalised Tuberculosis	Concato Disease
Diffuse Necrotic Tuberculosis	Diffuse Necrotizing Tuberculosis
Diffuse Tuberculous Degeneration	Diffuse Tuberculous Gangrene
Mtb - [Miliary Tuberculosis]	Miliary Tuberculous
Miliary Tuberculosis Unspecified	Disseminated Miliary Tuberculosis
Disseminated Necrotic Tuberculosis	Disseminated Necrotizing Tuberculosis
Disseminated Tuberculous Gangrene	Disseminated Tuberculous Degeneration

Leprosy 3

Leprosy	Leprosy, Susceptibility To, 3
Hansen'S Disease	Leprosy, Susceptibility To
Hansen Disease	Infection Due To Mycobacterium Leprae
LPRS3	Leprosy, Type 3
Anaesthesia Leprosy	Anaesthetic Leprosy
Maculoanaesthetic Leprosy	Macular Leprosy
Leprosy Unspecified

Mycobacterium Tuberculosis 1

Tuberculosis	Tuberculoma
Tuberculosis, Susceptibility To	Mycobacterium Tuberculosis, Susceptibility To, 1
Mtbs1	TB

Kallmann Syndrome

Hypogonadism With Anosmia	Kallman'S Syndrome
Anosmic Hypogonadism	Anosmic Idiopathic Hypogonadotropic Hypogonadism
Hypogonadotropic Hypogonadism And Anosmia	Hypogonadotropic Hypogonadism-Anosmia Syndrome
Olfacto-Genital Pathological Sequence	Familial Hypogonadism With Anosmia
Kallman Syndrome	Dysplasia Olfactogenitalis Of De Morsier
Kallmann'S Syndrome	Congenital Hypogonadotropic Hypogonadism With Anosmia

Holoprosencephaly

Holoprosencephaly Sequence	Hpe
Hpe - [Holoprosencephaly]

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism	Undescended Testicle
Undescended Testis	Cryptorchism
Undescended Testicles	CRYPTO
Impaired Testicular Descent	Cryptosporidiosis
Retained Testis	Unilateral Cryptorchidism
Unilateral Undescended Testis	Nondescent Unilateral Testicle
Unilateral Cryptorchism	Ectopic Testis, Unilateral
Bilateral Cryptorchidism	Bilateral Cryptorchism
Bilateral Nondescent Testicle	Bilateral Undescended Testes
Bilateral Ectopic Testes

Congenital Hypothyroidism

Cretinism	Neonatal Hypothyroidism
Ch	Cht
Congenital Myxedema	Myxedema, Congenital
Endemic Cretinism	Congenital Iodine-Deficiency Syndrome
Fetal Iodine Deficiency Syndrome	Congenital Iodine-Deficiency Hypothyroidism Nos

46,Xy Sex Reversal

Swyer Syndrome	Pure Gonadal Dysgenesis 46,Xy
Gonadal Dysgenesis, Xy Female Type	Gonadal Dysgenesis, 46,Xy
46,Xy Cgd	46,Xy Complete Gonadal Dysgenesis
46,Xy Pure Gonadal Dysgenesis	46 Xy Gonadal Dysgenesis
46, Xy Cgd	46, Xy Complete Gonadal Dysgenesis
46, Xy Pure Gonadal Dysgenesis	Xy Pure Gonadal Dysgenesis
Female With 46,Xy Karyotype	Xy Females

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04547	ESX1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ESX1	MGD	MGI:1096388
Canis familiaris	ESX1	VGNC	VGNC:54139
Rattus norvegicus	ESX1	RGD	RGD:1590738
Bos taurus	ESX1	VGNC	VGNC:28612