HESX1

Homeobox expressed in ES cells 1, also known as homeobox protein ANF, is a homeobox protein that in humans is encoded by the HESX1 gene.^[5]

HESX1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2K40
Identifiers
Aliases	HESX1, ANF, CPHD5, RPX, HESX homeobox 1
External IDs	OMIM: 601802; MGI: 96071; HomoloGene: 20831; GeneCards: HESX1; OMA:HESX1 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p14.3 Start 57,197,838 bp[1] End 57,227,606 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14|14 A3 Start 26,716,373 bp[2] End 26,724,286 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in buccal mucosa cell testicle gonad right testis left testis ventricular zone C1 segment right lobe of liver right adrenal gland right adrenal cortex Top expressed in blastocyst Rathke's pouch embryo embryo endoderm morula epiblast definitive endoderm yolk sac Stomodeum More reference expression data BioGPS n/a
Gene ontology Molecular function sequence-specific DNA binding protein C-terminus binding chromatin binding protein binding protein N-terminus binding DNA-binding transcription repressor activity, RNA polymerase II-specific RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process multicellular organism development forebrain morphogenesis brain development nose development negative regulation of transcription, DNA-templated regulation of transcription, DNA-templated transcription, DNA-templated otic vesicle formation negative regulation of transcription by RNA polymerase II pituitary gland development regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8820 15209 Ensembl ENSG00000163666 ENSMUSG00000040726 UniProt Q9UBX0 Q61658 RefSeq (mRNA) NM_003865 NM_001376058 NM_001376059 NM_001376060 NM_001376061 NM_010420 RefSeq (protein) NP_003856 NP_001362987 NP_001362988 NP_001362989 NP_001362990 NP_034550 Location (UCSC) Chr 3: 57.2 – 57.23 Mb Chr 14: 26.72 – 26.72 Mb PubMed search [3] [4]
Wikidata
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Expression of HEX1 and HESX1 marks the anterior visceral endoderm of the embryo. The AVE is an extra-embryonic tissue, key to the establishment of the anterior-posterior body axis.

Clinical significance

Mutations in the HESX1 gene are associated with some cases of septo-optic dysplasia^[6] or Pickardt-Fahlbusch syndrome.^[7]