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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) Band 3p14.3 Start 57,197,838 bp End 57,227,606 bp
Gene location (Mouse) Chr. Chromosome 14 (mouse) Band 14|14 A3 Start 26,716,373 bp End 26,724,286 bp
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
Wikidata
View/Edit Human View/Edit Mouse

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.

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 or Pickardt-Fahlbusch syndrome.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000163666 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000040726 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: HESX homeobox 1".
6. Dattani MT, Martinez-Barbera JP, Thomas PQ, et al. (1998). "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse". Nat. Genet. 19 (2): 125–33. doi:10.1038/477. PMID 9620767. S2CID 28880292.
7. Reynaud R, Albarel F, Saveanu A, Kaffel N, Castinetti F, Lecomte P, Brauner R, Simonin G, Gaudart J, Carmona E, Enjalbert A, Barlier A, Brue T (January 2011). "Pituitary Stalk Interruption Syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms". Eur J Endocrinol. 164 (4): 457–65. doi:10.1530/EJE-10-0892. PMID 21270112.

Further reading

• Carvalho LR, Brinkmeier ML, Castinetti F, et al. (2010). "Corepressors TLE1 and TLE3 interact with HESX1 and PROP1". Mol. Endocrinol. 24 (4): 754–65. doi:10.1210/me.2008-0359. PMC 2852357. PMID 20181723.
• Kim SS, Kim Y, Shin YL, et al. (2003). "Clinical characteristics and molecular analysis of PIT1, PROP1, LHX3, and HESX1 in combined pituitary hormone deficiency patients with abnormal pituitary MR imaging". Horm. Res. 60 (6): 277–83. doi:10.1159/000074245 (inactive 23 December 2024). PMID 14646405. S2CID 31256955.{{cite journal}}: CS1 maint: DOI inactive as of December 2024 (link)
• Torrado M, Revuelta J, Gonzalez C, et al. (2009). "Role of conserved salt bridges in homeodomain stability and DNA binding". J. Biol. Chem. 284 (35): 23765–79. doi:10.1074/jbc.M109.012054. PMC 2749150. PMID 19561080.
• Dattani MT, Robinson IC (2002). "HESX1 and Septo-Optic Dysplasia". Rev Endocr Metab Disord. 3 (4): 289–300. doi:10.1023/A:1020945406356. PMID 12424431. S2CID 26948906.
• Carvalho LR, Woods KS, Mendonca BB, et al. (2003). "A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction" (PDF). J. Clin. Invest. 112 (8): 1192–201. doi:10.1172/JCI18589. PMC 213489. PMID 14561704.
• Diaczok D, Romero C, Zunich J, et al. (2008). "A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency". J. Clin. Endocrinol. Metab. 93 (11): 4351–9. doi:10.1210/jc.2008-1189. PMC 2582563. PMID 18728160.
• Fintini D, Salvatori R, Salemi S, et al. (2006). "Autosomal-dominant isolated growth hormone deficiency (IGHD type II) with normal GH-1 gene". Horm. Res. 65 (2): 76–82. doi:10.1159/000091033 (inactive 23 December 2024). PMID 16424673. S2CID 29894981.{{cite journal}}: CS1 maint: DOI inactive as of December 2024 (link)
• Dateki S, Fukami M, Uematsu A, et al. (2010). "Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion". J. Clin. Endocrinol. Metab. 95 (8): 4043–7. doi:10.1210/jc.2010-0150. PMID 20534763.
• Cohen RN, Cohen LE, Botero D, et al. (2003). "Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia". J. Clin. Endocrinol. Metab. 88 (10): 4832–9. doi:10.1210/jc.2002-021868. PMID 14557462.
• Sobrier ML, Maghnie M, Vié-Luton MP, et al. (2006). "Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities". J. Clin. Endocrinol. Metab. 91 (11): 4528–36. doi:10.1210/jc.2006-0426. PMID 16940453.
• Dasen JS, Rosenfeld MG (2001). "Signaling and transcriptional mechanisms in pituitary development". Annu. Rev. Neurosci. 24: 327–55. doi:10.1146/annurev.neuro.24.1.327. PMID 11283314.
• Tajima T, Hattorri T, Nakajima T, et al. (2003). "Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient". J. Clin. Endocrinol. Metab. 88 (1): 45–50. doi:10.1210/jc.2002-020818. PMID 12519827.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Mellado C, Poduri A, Gleason D, et al. (2010). "Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort". Am. J. Med. Genet. A. 152A (11): 2736–42. doi:10.1002/ajmg.a.33684. PMC 2965295. PMID 20949537.
• Sajedi E, Gaston-Massuet C, Andoniadou CL, et al. (2008). "DNMT1 interacts with the developmental transcriptional repressor HESX1". Biochim. Biophys. Acta. 1783 (1): 131–43. doi:10.1016/j.bbamcr.2007.08.010. PMC 2233781. PMID 17931718.
• McNay DE, Turton JP, Kelberman D, et al. (2007). "HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism". J. Clin. Endocrinol. Metab. 92 (2): 691–7. doi:10.1210/jc.2006-1609. PMID 17148560.
• Kelberman D, Dattani MT (2007). "Genetics of septo-optic dysplasia". Pituitary. 10 (4): 393–407. doi:10.1007/s11102-007-0055-5. PMID 17587179. S2CID 25143489.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ravasi T, Suzuki H, Cannistraci CV, et al. (2010). "An atlas of combinatorial transcriptional regulation in mouse and man". Cell. 140 (5): 744–52. doi:10.1016/j.cell.2010.01.044. PMC 2836267. PMID 20211142.
• Dattani MT (2003). "Borjeson-Forssman-Lehmann syndrome: a novel pituitary phenotype due to mutation in a novel gene". J. Pediatr. Endocrinol. Metab. 16 (9): 1207–9. doi:10.1515/jpem.2003.16.9.1207. PMID 14714741. S2CID 45542882.

External links

• GeneReviews/NCBI/NIH/UW entry on Anophthalmia / Microphthalmia Overview
• HESX1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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