HESX1

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)
End	57,227,606 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	26,724,286 bp
RNA expression pattern
	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
	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
	8820
	15209
	ENSG00000163666
	ENSMUSG00000040726
	Q9UBX0
	Q61658
	NM_003865; NM_001376058; NM_001376059; NM_001376060; NM_001376061
	NM_010420
	NP_003856; NP_001362987; NP_001362988; NP_001362989; NP_001362990
	NP_034550
	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.^[5]

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163666 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040726 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: HESX homeobox 1".
^ 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.
^ 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.

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. PMID 14646405. S2CID 31256955.
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. PMID 16424673. S2CID 29894981.
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)

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000163666 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[entrez-5] "Entrez Gene: HESX homeobox 1".

[pmid9620767-6] 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.

[pmid21270112-7] 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.

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Clinical significance

References

Further reading

External links