HESX1 - HESX homeobox 1 Gene

Also Known as ANF; RPX; CPHD5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8820

About HESX1

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:57,197,838-57,227,615 (from NCBI)

This gene has 4 transcripts (splice variants), 195 orthologues, 50 paralogues and is associated with 8 phenotypes. Broad expression in testis (RPKM 1.6), skin (RPKM 0.6) and 24 other tissues.

Summary

This gene encodes a conserved homeobox protein that is a transcriptional repressor in the developing forebrain and pituitary gland. Mutations in this gene are associated with septooptic dysplasia, HESX1-related growth hormone deficiency, and combined pituitary hormone deficiency. [provided by RefSeq, Jul 2008]

HESX1 Products (5)

mRNA	Protein	Name
NM_001376058.1	NP_001362987.1	homeobox expressed in ES cells 1
NM_001376059.1	NP_001362988.1	homeobox expressed in ES cells 1
NM_001376060.1	NP_001362989.1	homeobox expressed in ES cells 1
NM_001376061.1	NP_001362990.1	homeobox expressed in ES cells 1
NM_003865.3	NP_003856.1	homeobox expressed in ES cells 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	26781211	GOA
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11748154	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	26781211	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	11748154	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11748154	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23455924	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 transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11748154	GOA
involved in pituitary gland development	IMP IMP: Inferred from mutant phenotype	26781211	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	26781211	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

HESX1 Protein Structure

Homeobox

0
100
185 a.a.

Protein Preferred Names	Protein Names
homeobox expressed in ES cells 1	Rathke pouch homeobox

HESX1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HESX1	Q9UBX0	RBP4	Homo sapiens	P02753	Anti Tag CoIP	28514442
Intra	HESX1	Q9UBX0	RBP4	Homo sapiens	P02753	Anti Tag CoIP	33961781
Intra	HESX1	Q9UBX0	KDM1A	Homo sapiens	O60341	Anti Tag CoIP	23455924
Intra	HESX1	Q9UBX0	PRMT6	Homo sapiens	Q96LA8	Anti Tag CoIP	23455924
Intra	HESX1	Q9UBX0	PRMT6	Homo sapiens	Q96LA8	Y2H	23455924

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Pituitary Hormone Deficiency, Combined, 1 CPHD1
Combined Pituitary Hormone Deficiencies, Genetic Forms	Congenital Hypopituitarism Pituitary Hormone Deficiency, Combined 1 Congenital Combined Pituitary Hormone Deficiency Non-Acquired Combined Pituitary Hormone Deficiency Cphd1 Familial Congenital Hypopituitarism Multiple Pituitary Hormone Deficiencies, Genetic Forms Combined Pituitary Hormone Deficiencies, Genetic Form Hormone Deficiency, Pituitary, Combined, Type 1
Pituitary Stalk Interruption Syndrome	Ectopic Neurohypophysis Psis
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
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Hypopituitarism	Pituitary Hypofunction Pituitary Insufficiency Pituitary Hormone Deficiency Subpituitarism Hypophyseal Dystrophy Hypohypophysism Anterior Pituitary Insufficiency Deficient Secretion Of One Or More Pituitary Hormones Hypopituitarism Syndrome Pituitary Deficiency Pituitary Failure Pituitary Insufficiency Nos Anterior Pituitary Hypofunction Deficient Secretion Of All Pituitary Hormones Hypopituitary Dwarfism Hyposomatotropic Dwarfism Hypophyseal Dwarfism Hypopituitary Cachexia Hypophyseal Short Stature Panhypopituitarism Syndrome Pituitary Cachexia Juvenile Hypopituitarism Pituitary Dwarfism Pituitary Gland Hypofunction Primary Hypopituitarism Secondary Hypogonadism Prepubertal Panhypopituitarism Prepubertal Dwarfism Postpartum Panhypopituitary Syndrome Postpartum Hypopituitarism Pituitary Short Stature Pituitary Infantilism Pituitary Hypogonadism Pituitary Hypoadrenocorticism
Growth Hormone Deficiency	Somatotropin Deficiency Isolated Somatotropin Deficiency
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
Pituitary Gland Disease	Pituitary Diseases Pituitary Dysfunction Pituitary Disease Pituitary Deficiency Pituitary Disorders
Fryns Microphthalmia Syndrome	Anophthalmia Microphthalmia With Facial Clefting Anophthalmia Plus Syndrome Leichtman Wood Rohn Syndrome Anophthalmia-Plus Syndrome Anophthalmia, Cleft Lip/Palate, Facial Anomalies, And Cns Anomalies And Hypothalamic Disorder Fryns Anophthalmia Syndrome
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 )
Hypothyroidism	Thyroid Diseases Thyroid Disease Thyroid Deficiency Thyroid Insufficiency Dysfunction Thyroid Thyroid Dysfunction
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
Culler-Jones Syndrome	Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome CJS Pallister-Hall Syndrome 2, Formerly Phs2, Formerly Pallister-Hall Syndrome 2 Phs2
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
Isolated Growth Hormone Deficiency, Type Ii	Ighd Ii Isolated Growth Hormone Deficiency Type Ii IGHD2 Growth Hormone Deficiency, Isolated, Type Ii Congenital Ighd Type Ii Congenital Isolated Gh Deficiency Type Ii Congenital Isolated Growth Hormone Deficiency Type Ii Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant Growth Hormone Deficiency, Isolated, Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant Autosomal Dominant Isolated Growth Hormone Deficiency Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 2 Growth Hormone Deficiency, Isolated Autosomal Dominant Growth Hormone Deficiency, Isolated, 2 Growth Hormone Deficiency Isolated Autosomal Dominant
Alternating Esotropia
Peho Syndrome	Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy Infantile Cerebellooptic Atrophy PEHO Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy Progressive Encephalopathy-Optic Atrophy Syndrome
Hypogonadotropic Hypogonadism	Klinefelter Syndrome Klinefelter'S Syndrome Xxy Syndrome Xxy Trisomy Hypogonadotropism 47, Xxy Congenital Idiopathic Hypogonadotropic Hypogonadism Isolated Congenital Gonadotropin Deficiency 47,Xxy Syndrome 47, Xxy Syndrome Klinefelters Syndrome Hypogonadism Klinefelter Syndrome In Males Klinefelter Syndrome, Unspecified Klinefelter Syndrome Karyotype 47, Xxy
Adrenal Hypoplasia, Congenital	X-Linked Adrenal Hypoplasia Congenita Congenital Adrenal Hypoplasia AHC Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism Adrenal Hypoplasia Congenita X-Linked Ahc Ahch Ahx Ahc With Hhg Cytomegalic Adrenocortical Hypoplasia Ahc With Isolated Gonadotropin Deficiency X-Linked Congenital Adrenal Hypoplasia Congenital Adrenal Hypoplasia, X-Linked Addison Disease, X-Linked Primary Adrenal Hypoplasia Adrenal Hypoplasia Congenital, X-Linked X-Linked Addison Disease X-Linked Adrenal Hypoplasia Congenital Congenital Hypoplasia Of Adrenal Gland Congenital Adrenal Gland Hypoplasia Congenital Small Adrenal Gland Adrenal Hypoplasia Cah - [Congenital Adrenal Hypoplasia]
Acth Deficiency, Isolated	Adrenocorticotropic Hormone Deficiency IAD Congenital Isolated Acth Deficiency Isolated Acth Deficiency Isolated Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone Deficiency Adrenocorticotropic Hormone [Acth] Deficiency Secondary Adrenocortical Insufficiency
Pallister-Hall Syndrome	PHS Hypothalamic Hamartomas Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly Hypothalamic Hamartoblastoma Syndrome Hamartoma Of The Hypothalamus Pallister Hall Syndrome Hall-Pallister Syndrome Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly Hamartoma, Hypothalamic
Gillespie Syndrome	GLSP Aniridia, Cerebellar Ataxia And Mental Deficiency Aniridia Cerebellar Ataxia Mental Deficiency Aniridia, Cerebellar Ataxia, And Mental Retardation Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome Aniridia-Cerebellar Ataxia-Intellectual Disability Aniridia-Cerebellar Ataxia-Mental Deficiency Partial Aniridia-Cerebellar Ataxia-Oligophrenia Aniridia, Cerebellar Ataxia, And Intellectual Disability
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
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
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
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
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
Orofacial Cleft	Cleft, Orofacial
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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-RS06141	HESX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	HESX1	RGD	RGD:1563858
Macaca mulatta	HESX1	VGNC	VGNC:73366
Felis catus	HESX1	VGNC	VGNC:67558
Canis familiaris	HESX1	VGNC	VGNC:41668
Mus musculus	HESX1	MGD	MGI:96071
Bos taurus	HESX1	VGNC	VGNC:29825
Others	HESX1	NCBI