HESX1

HESX1
??? ??????
??? ?????? ????????	Ortholog search: PDBe RCSB
????? ???? ?????? ??? ?????? ????????
	2K40
??????
????? ?????	HESX1 , ANF, CPHD5, RPX, HESX homeobox 1
?????? ??????	??????? ???????? ??????? ??? ???????? 601802 MGI: MGI:96071 HomoloGene: 20831 GeneCards: 8820
??? ?????? ??????
????? ??????	? sequence-specific DNA binding ; ? protein C-terminus binding ; ? chromatin binding ; ? ?GO:0001948? ?GO:0016582 ??? ??????? ; ? protein N-terminus binding ; ? ?GO:0001078? ?GO:0001214? ?GO:0001206 DNA-binding transcription repressor activity, RNA polymerase II-specific ; ? ?GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding ; ? ??? ?? ?? ?? ; ? ?GO:0001200? ?GO:0001133? ?GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific ;
?????? ?????	? ???? ;
?????? ?????	? ??? ????? ??????? ; ? forebrain morphogenesis ; ? brain development ; ? nose development ; ? ?GO:0045996 negative regulation of transcription, DNA-templated ; ? ?GO:0009373 ??? ??? ????? ; ? ??? ????? ; ? otic vesicle formation ; ? ?GO:1901227 negative regulation of transcription by RNA polymerase II ; ? pituitary gland development ; ? ?GO:0044324? ?GO:0003256? ?GO:1901213? ?GO:0046019? ?GO:0046020? ?GO:1900094? ?GO:0061216? ?GO:0060994? ?GO:1902064? ?GO:0003258? ?GO:0072212 ??? ????? ???????? ?? ???? ????????? ????? ?????? ;
	???????: Amigo / QuickGO
??????? ???????
	Q9UBX0 ; J3KR67
	Q61658
	?XM_005265526? ?NM_001376058? ?NM_001376059? ?NM_001376060? ?NM_001376061? ?NR_164757? ?XM_047449142? ?XM_047449143 NM_003865? ?XM_005265526? ?NM_001376058? ?NM_001376059? ?NM_001376060? ?NM_001376061? ?NR_164757? ?XM_047449142? ?XM_047449143
	?XM_006518570 NM_010420? ?XM_006518570
	?XP_005265583? ?NP_001362987? ?NP_001362988? ?NP_001362989? ?NP_001362990 NP_003856? ?XP_005265583? ?NP_001362987? ?NP_001362988? ?NP_001362989? ?NP_001362990
	?XP_006518633 NP_034550? ?XP_006518633
	???? ??????
????/???? ?????	????/???? ???

HESX1 ? ( HESX homeobox 1 ) ??? ?????? ?????? ?????? ??? HESX1 ?? ??????? . ^[1]

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^ "Entrez Gene: HESX homeobox 1" . ????? ?? ????? ?? 2010-04-12.

????? ?????? [ ??? ]

Carvalho LR? Brinkmeier ML? Castinetti F? ?????? (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? ?????? (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 .
Torrado M? Revuelta J? Gonzalez C? ?????? (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 . {{ ??????? ?????? ????? }}: ????? ?????????: ??? ????? ??? ???? ( link )
Dattani MT? Robinson IC (2002). "HESX1 and Septo-Optic Dysplasia". Rev Endocr Metab Disord . ?. 3 ?. 4: 289?300. PMID : 12424431 .
Carvalho LR? Woods KS? Mendonca BB? ?????? (2003). "A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction" . J. Clin. Invest . ?. 112 ?. 8: 1192?201. DOI : 10.1172/JCI18589 . PMC : 213489 . PMID : 14561704 .
Diaczok D? Romero C? Zunich J? ?????? (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? ?????? (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 .
Dateki S? Fukami M? Uematsu A? ?????? (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? ?????? (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? Vie-Luton MP? ?????? (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? ?????? (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? ?????? (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? ?????? (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? ?????? (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? ?????? (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 .
Strausberg RL? Feingold EA? Grouse LH? ?????? (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. DOI : 10.1073/pnas.242603899 . PMC : 139241 . PMID : 12477932 .
Ravasi T? Suzuki H? Cannistraci CV? ?????? (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 .

??? ???? ????? ?? ??? ??? ???????? 3 ????? ???????. ????? ???? ?? ???????.

[entrez-1] "Entrez Gene: HESX homeobox 1" . ????? ?? ????? ?? 2010-04-12.

[1]

????????? ??????	???? ??????? ???????? ??? ????? (OMIM) : 601802
???????? ????????	Ensembl Transcript ID : ENST00000647958 ???? ????? ?????? ??????? (UMLS CUI) : C1415521