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Aliases for HESX1 Gene

Aliases for HESX1 Gene

  • HESX Homeobox 1 2 3 5
  • Homeobox Protein ANF 3 4
  • HAnf 3 4
  • Homeobox Expressed In ES Cells 1 3
  • Homeobox, ES Cell Expressed 1 2
  • Rathke Pouch Homeobox 3
  • CPHD5 3
  • ANF 3
  • RPX 3

External Ids for HESX1 Gene

Previous GeneCards Identifiers for HESX1 Gene

  • GC03M056103
  • GC03M056586
  • GC03M057086
  • GC03M057189

Summaries for HESX1 Gene

Entrez Gene Summary for HESX1 Gene

  • 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]

GeneCards Summary for HESX1 Gene

HESX1 (HESX Homeobox 1) is a Protein Coding gene. Diseases associated with HESX1 include Septooptic Dysplasia and Hesx1-Related Combined Pituitary Hormone Deficiency. Among its related pathways are Ectoderm Differentiation and Signaling pathways regulating pluripotency of stem cells. GO annotations related to this gene include sequence-specific DNA binding and protein C-terminus binding. An important paralog of this gene is MIXL1.

UniProtKB/Swiss-Prot for HESX1 Gene

  • Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5-AGCTTGAGTCTAATTGAATTAACTGTAC-3. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation.

Gene Wiki entry for HESX1 Gene

Additional gene information for HESX1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HESX1 Gene

Genomics for HESX1 Gene

Regulatory Elements for HESX1 Gene

Enhancers for HESX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H057594 1.4 ENCODE dbSUPER 9.9 -369.9 -369940 6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 DENND6A FAM208A ARF4 DENND6A-AS1 PDE12 DENND6A-DT APPL1 HESX1 FLNB DNAH12
GH03H057162 1.3 Ensembl ENCODE dbSUPER 10.6 +63.4 63413 2 MXI1 SAP130 ARNT BACH1 ARID4B SIN3A ZEB1 ZFHX2 POLR2A SCRT2 HESX1 APPL1 IL17RD SLMAP LOC105377101
GH03H057158 1.3 Ensembl ENCODE dbSUPER 10.6 +67.1 67058 4 KLF1 FEZF1 ZNF384 ZIC2 ETS1 PRDM10 RCOR1 ZBTB20 EZH2 REST CCDC66 FAM208A IL17RD APPL1 HESX1 ASB14 DNAH12 SLMAP LOC105377101
GH03H057149 1.2 Ensembl ENCODE dbSUPER 10.9 +75.6 75638 4 PKNOX1 RNF2 JUND PRDM6 POLR2A GLIS1 SCRT2 RCOR1 ZFX PRDM4 IL17RD APPL1 HESX1 ARHGEF3 ASB14 DNAH12 SLMAP LOC105377101 RPL19P2
GH03H056988 1.4 Ensembl ENCODE dbSUPER 9.2 +238.1 238145 1 FOXA2 MLX THRB RAD21 RARA ZNF143 RCOR1 CREM MIXL1 THAP11 ARHGEF3 APPL1 HESX1 ARHGEF3-AS1 SPATA12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HESX1 on UCSC Golden Path with GeneCards custom track

Promoters for HESX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000153074 -568 2001 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 FOS SP3

Genomic Location for HESX1 Gene

Chromosome:
3
Start:
57,197,838 bp from pter
End:
57,227,632 bp from pter
Size:
29,795 bases
Orientation:
Minus strand

Genomic View for HESX1 Gene

Genes around HESX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HESX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HESX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HESX1 Gene

Proteins for HESX1 Gene

  • Protein details for HESX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBX0-HESX1_HUMAN
    Recommended name:
    Homeobox expressed in ES cells 1
    Protein Accession:
    Q9UBX0
    Secondary Accessions:
    • Q52LC5
    • Q99667

    Protein attributes for HESX1 Gene

    Size:
    185 amino acids
    Molecular mass:
    21409 Da
    Quaternary structure:
    • Can form heterodimers with PROP1 in binding to DNA (By similarity). Interacts with TLE1.

    Three dimensional structures from OCA and Proteopedia for HESX1 Gene

neXtProt entry for HESX1 Gene

Post-translational modifications for HESX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HESX1 Gene

No data available for DME Specific Peptides for HESX1 Gene

Domains & Families for HESX1 Gene

Gene Families for HESX1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HESX1 Gene

Suggested Antigen Peptide Sequences for HESX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UBX0

UniProtKB/Swiss-Prot:

HESX1_HUMAN :
  • Belongs to the ANF homeobox family.
Family:
  • Belongs to the ANF homeobox family.
genes like me logo Genes that share domains with HESX1: view

Function for HESX1 Gene

Molecular function for HESX1 Gene

GENATLAS Biochemistry:
Hes,murine embryonic stem cells homolog,homeo domain encoding gene,expressed at the anterior extreme of the rostral neural fold
UniProtKB/Swiss-Prot Function:
Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5-AGCTTGAGTCTAATTGAATTAACTGTAC-3. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation.

Gene Ontology (GO) - Molecular Function for HESX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA,IMP 11748154
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0003677 DNA binding IDA,IEA 26781211
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 23455924
genes like me logo Genes that share ontologies with HESX1: view
genes like me logo Genes that share phenotypes with HESX1: view

Human Phenotype Ontology for HESX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HESX1 Gene

MGI Knock Outs for HESX1:

Animal Model Products

CRISPR Products

miRNA for HESX1 Gene

miRTarBase miRNAs that target HESX1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HESX1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for HESX1 Gene

Localization for HESX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HESX1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HESX1 gene
Compartment Confidence
nucleus 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HESX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 26781211
genes like me logo Genes that share ontologies with HESX1: view

Pathways & Interactions for HESX1 Gene

genes like me logo Genes that share pathways with HESX1: view

Pathways by source for HESX1 Gene

1 BioSystems pathway for HESX1 Gene

Gene Ontology (GO) - Biological Process for HESX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007420 brain development TAS 9620767
genes like me logo Genes that share ontologies with HESX1: view

No data available for SIGNOR curated interactions for HESX1 Gene

Drugs & Compounds for HESX1 Gene

(1) Drugs for HESX1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for HESX1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HESX1: view

Transcripts for HESX1 Gene

mRNA/cDNA for HESX1 Gene

Unigene Clusters for HESX1 Gene

HESX homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HESX1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HESX1 Gene

No ASD Table

Relevant External Links for HESX1 Gene

GeneLoc Exon Structure for
HESX1
ECgene alternative splicing isoforms for
HESX1

Expression for HESX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HESX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HESX1 Gene

This gene is overexpressed in Testis (x4.4).

NURSA nuclear receptor signaling pathways regulating expression of HESX1 Gene:

HESX1

SOURCE GeneReport for Unigene cluster for HESX1 Gene:

Hs.171980

Evidence on tissue expression from TISSUES for HESX1 Gene

  • Nervous system(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HESX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • olfactory bulb
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • vocal cord
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with HESX1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for HESX1 Gene

Orthologs for HESX1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HESX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HESX1 33 34
  • 99.46 (n)
cow
(Bos Taurus)
Mammalia HESX1 33 34
  • 90.09 (n)
dog
(Canis familiaris)
Mammalia HESX1 33 34
  • 88.65 (n)
rat
(Rattus norvegicus)
Mammalia Hesx1 33
  • 83.78 (n)
mouse
(Mus musculus)
Mammalia Hesx1 33 16 34
  • 82.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HESX1 34
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HESX1 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves HESX1 33 34
  • 70.24 (n)
lizard
(Anolis carolinensis)
Reptilia HESX1 34
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hesx1 33
  • 61.75 (n)
Str.10575 33
African clawed frog
(Xenopus laevis)
Amphibia XANF-1 33
zebrafish
(Danio rerio)
Actinopterygii hesx1 33 34
  • 58.8 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta OdsH 34
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-53 34
  • 19 (a)
OneToOne
Species where no ortholog for HESX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HESX1 Gene

ENSEMBL:
Gene Tree for HESX1 (if available)
TreeFam:
Gene Tree for HESX1 (if available)

Paralogs for HESX1 Gene

Paralogs for HESX1 Gene

(2) SIMAP similar genes for HESX1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HESX1: view

Variants for HESX1 Gene

Sequence variations from dbSNP and Humsavar for HESX1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs104893742 Pathogenic, Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230] 57,198,405(-) TAGAG(A/G)AAGAC reference, missense
rs121909173 Pathogenic, Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230] 57,199,901(-) CTTCA(C/G)GAAGG reference, missense
rs28936416 Pathogenic, Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230] 57,199,842(-) GAGAA(C/T)CTTAG reference, missense
rs28936702 Pathogenic, Septooptic dysplasia (SOD) [MIM:182230] 57,198,277(-) ATCGG(C/T)GTGCA reference, missense
rs28936703 Pathogenic, Septooptic dysplasia (SOD) [MIM:182230] 57,198,246(-) AGAAT(C/T)ACAGT reference, missense

Variation tolerance for HESX1 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HESX1 Gene

Human Gene Mutation Database (HGMD)
HESX1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HESX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HESX1 Gene

Disorders for HESX1 Gene

MalaCards: The human disease database

(22) MalaCards diseases for HESX1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
septooptic dysplasia
  • pituitary hormone deficiency, combined, 5
hesx1-related combined pituitary hormone deficiency
  • growth hormone deficiency with pituitary anomalies
pituitary stalk interruption syndrome
  • ectopic neurohypophysis
combined pituitary hormone deficiencies, genetic forms
  • familial congenital hypopituitarism
hypothyroidism due to deficient transcription factors involved in pituitary development or function
- elite association - COSMIC cancer census association via MalaCards
Search HESX1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HESX1_HUMAN
  • Growth hormone deficiency with pituitary anomalies (GHDPA) [MIM:182230]: A disease characterized by low or absent growth hormone levels, in the presence of a hypoplastic anterior pituitary lobe and ectopic or absent posterior pituitary lobe. {ECO:0000269 PubMed:11136712, ECO:0000269 PubMed:17148560}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pituitary hormone deficiency, combined, 5 (CPHD5) [MIM:182230]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. {ECO:0000269 PubMed:11136712, ECO:0000269 PubMed:14561704, ECO:0000269 PubMed:26781211}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Septooptic dysplasia (SOD) [MIM:182230]: A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum. {ECO:0000269 PubMed:11136712, ECO:0000269 PubMed:9620767}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HESX1

Genetic Association Database (GAD)
HESX1
Human Genome Epidemiology (HuGE) Navigator
HESX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HESX1
genes like me logo Genes that share disorders with HESX1: view

No data available for Genatlas for HESX1 Gene

Publications for HESX1 Gene

  1. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. (PMID: 17148560) McNay DE … Dattani MT (The Journal of clinical endocrinology and metabolism 2007) 3 4 22 45 60
  2. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. (PMID: 11136712) Thomas PQ … Beddington RS (Human molecular genetics 2001) 3 4 22 45 60
  3. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. (PMID: 9620767) Dattani MT … Robinson IC (Nature genetics 1998) 2 3 4 22 60
  4. A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. (PMID: 14561704) Carvalho LR … Dattani MT (The Journal of clinical investigation 2003) 3 4 45 60
  5. Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis. (PMID: 11731482) Dasen JS … Rosenfeld MG (Genes & development 2001) 3 4 22 60

Products for HESX1 Gene

Sources for HESX1 Gene

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