ESX1 - ESX homeobox 1 Gene

Also Known as ESX1L; ESXR1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80712

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	15897875	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP IMP: Inferred from mutant phenotype	15897875	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	15897875	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	15897875	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	15897875	GOA
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	15897875	GOA
involved in regulation of cell cycle	IDA IDA: Inferred from direct assay	15235584	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15235584	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15235584	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

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