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Aliases for HESX1 Gene

Aliases for HESX1 Gene

  • HESX Homeobox 1 2 3
  • Homeobox Protein ANF 3 4
  • HAnf 3 4
  • 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 Signaling pathways regulating pluripotency of stem cells and Transcriptional Regulatory Network in Embryonic Stem Cell. GO annotations related to this gene include sequence-specific DNA binding and protein C-terminus binding. An important paralog of this gene is PITX3.

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 (By similarity).

Gene Wiki entry for HESX1 Gene

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

Genomics for HESX1 Gene

Regulatory Elements for HESX1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HESX1 Gene at MOPED

Post-translational modifications for HESX1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HESX1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HESX1 Gene

Domains & Families for HESX1 Gene

Gene Families for HESX1 Gene

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 :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the ANF homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
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 (By similarity).

Gene Ontology (GO) - Molecular Function for HESX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 9620767
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 23455924
GO:0008022 protein C-terminus binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HESX1: view
genes like me logo Genes that share phenotypes with HESX1: view

Animal Models for HESX1 Gene

MGI Knock Outs for HESX1:

Animal Model Products

miRNA for HESX1 Gene

miRTarBase miRNAs that target HESX1

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HESX1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for HESX1 Gene COMPARTMENTS Subcellular localization image for HESX1 gene
Compartment Confidence
nucleus 3
extracellular 1

Gene Ontology (GO) - Cellular Components for HESX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for HESX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0007420 brain development TAS 9620767
GO:0030916 otic vesicle formation IEA --
GO:0043584 nose development IEA --
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
ACTH Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
GnRH
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HESX1

Flow Cytometry Products

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 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).

SOURCE GeneReport for Unigene cluster for HESX1 Gene Hs.171980

genes like me logo Genes that share expression patterns with HESX1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia HESX1 35
  • 90.09 (n)
  • 87.03 (a)
HESX1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HESX1 35
  • 88.65 (n)
  • 88.65 (a)
HESX1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hesx1 35
  • 82.7 (n)
  • 80.54 (a)
Hesx1 16
Hesx1 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HESX1 35
  • 99.46 (n)
  • 98.38 (a)
HESX1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hesx1 35
  • 83.78 (n)
  • 82.16 (a)
oppossum
(Monodelphis domestica)
Mammalia HESX1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HESX1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves HESX1 35
  • 70.24 (n)
  • 66.1 (a)
HESX1 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HESX1 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hesx1 35
  • 61.75 (n)
  • 59.02 (a)
Str.10575 35
African clawed frog
(Xenopus laevis)
Amphibia XANF-1 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
hesx1 35
  • 58.8 (n)
  • 59.03 (a)
hesx1 36
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta OdsH 36
  • 12 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-53 36
  • 19 (a)
OneToOne
Species with no ortholog for HESX1:
  • 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 MAF
rs975418 -- 57,204,576(-) TCTAG(A/C)ACTGA intron-variant
rs983243 -- 57,200,194(-) AGAGA(G/T)AACAC utr-variant-5-prime, intron-variant
rs1028040 -- 57,206,582(-) TGCTT(A/G)GTTAC intron-variant
rs3755639 -- 57,201,557(+) TGCAG(A/G)GTGGG upstream-variant-2KB, intron-variant
rs6445862 -- 57,209,749(+) GACAT(A/G)AGAAC intron-variant

Variation tolerance for HESX1 Gene

Residual Variation Intolerance Score: 54.36% 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

HapMap Linkage Disequilibrium report
HESX1
Human Gene Mutation Database (HGMD)
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

(18) MalaCards diseases for HESX1 Gene - From: 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
  • pituitary hormone deficiency, combined, 5
pituitary stalk interruption syndrome
  • ectopic neurohypophysis
combined pituitary hormone deficiencies, genetic forms
  • familial congenital hypopituitarism
hypopituitarism
  • pituitary hormone deficiency
- elite association
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}. 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. Mutations in the homeobox gene HESX1/Hesx1 associated with septo- optic dysplasia in human and mouse. (PMID: 9620767) Dattani M.T. … Robinson I.C.A.F. (Nat. Genet. 1998) 2 23 67
  2. Pituitary homeodomain transcription factors HESX1 and PROP1 form a heterodimer on the inverted TAAT motif. (PMID: 19879326) Kato Y. … Kato T. (Mol. Cell. Endocrinol. 2010) 23 67
  3. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. (PMID: 20396904) Ashkenazi-Hoffnung L. … Gat-Yablonski G. (Hum. Genet. 2010) 23 67
  4. Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. (PMID: 19965921) Dateki S. … Ogata T. (J. Clin. Endocrinol. Metab. 2010) 23 67
  5. Corepressors TLE1 and TLE3 interact with HESX1 and PROP1. (PMID: 20181723) Carvalho L.R. … Camper S.A. (Mol. Endocrinol. 2010) 23 67

Products for HESX1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate HESX1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for HESX1
    • Block miRNA regulation of HESX1 using miScript Target Protectors

    Sources for HESX1 Gene

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