HESX1

HESX1
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	2K40
식별자
에일리어스	HESX1, ANF, CPHD5, RPX, HESX 홈박스 1
외부 ID	OMIM: 601802 MGI: 96071 HomoloGene: 20831 GenCards: HESX1
유전자 위치(인간)
크르.	3번 염색체(인간)
끝.	57,227,606 bp
유전자 위치(마우스)
크르.	14번 염색체(쥐)
끝.	26,724,286 bp
RNA발현패턴
	상단 표시 위치:
	간우엽; ; 우부신; ; 단구; ; 좌부신; ; 췌장체; ; 담낭; ; 위체; ; 복부 피부; ; 우관상 동맥; ; 랑게르한스 섬;
	상단 표시 위치:
	내배엽; ; 배반포; ; 모룰라; ; 노른자낭; ; 기공; ; 중배엽; ; 백색 지방 조직; ; 신장; ; 태반; ; 신장 피질;
	추가 참조 표현식 데이터
	없음
유전자 존재론
분자 함수	배열특이적 DNA결합; 단백질C말단결합; 크로마틴 결합; 단백질 결합; 단백질 N말단결합; DNA결합전사억제제활성, RNA중합효소II 특이적; RNA중합효소II 시스조절영역배열특이적 DNA결합; DNA결합; DNA결합전사인자활성, RNA중합효소II 특이적;
셀룰러 컴포넌트	핵;
생물학적 과정	다세포 생물 발달; 전뇌 형태 형성; 뇌의 발달; 코의 발달; 전사 음성 조절, DNA 템플릿; 전사조절, DNA템플릿화; 전사, DNA 템플릿; 이소포 형성; RNA중합효소II에 의한 전사 음성 조절; 뇌하수체 발달; RNA중합효소II에 의한 전사조절;
	출처:아미고 / QuickGO
맞춤법
	8820
	15209
	ENSG00000163666
	ENSMUSG000040726
	Q9UBX0
	Q61658
	NM_003865; NM_001376058; NM_001376059; NM_001376060; NM_001376061
	NM_010420
	NP_003856; NP_001362987; NP_00136298; NP_001362989; NP_001362990
	NP_034550
	위키데이터
인간 보기/편집	마우스 표시/편집

호메오박스 단백질 ANF로도 알려진 ES 세포 1에서 발현되는 호메오박스는 HESX1 ^[5]유전자에 의해 사람에게서 암호화되는 호메오박스 단백질이다.

HEX1 및 HESX1의 발현으로 배아의 전방 내장 내배엽이 표시된다.AVE는 배외 조직으로, 전-후방의 신체 축을 확립하는 열쇠입니다.

임상적 의의

HESX1 유전자의 돌연변이는 패혈성 이형성증^[6] 또는 Pickardt-Fahlbusch ^[7]증후군의 일부 사례와 관련되어 있다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000163666 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000040726 - 앙상블, 2017년 5월
^ "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.

추가 정보

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.

외부 링크

Gene Reviews/NCBI/NIH/UW 무안구증/소안구증 개요
HESX1+단백질+미국국립의학도서관 의학 과목 제목(MeSH)

인간 염색체 3번 유전자에 대한 이 기사는 뭉툭한 것이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000163666 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000040726 - 앙상블, 2017년 5월

[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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HESX1

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임상적 의의

레퍼런스

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