PITX1

PITX1
식별자
에일리어스	PITX1, BFT, CCF, LBNBG, POTX, PTX1, 호메오도메인1과 같은 쌍
외부 ID	OMIM : 602149 MGI : 107374 HomoloGene : 20584 GenCard : PITX1
유전자 위치(인간)
크르.	5번 염색체(인간)
끝.	135,034,813 bp
유전자 위치(마우스)
크르.	13번 염색체(쥐)
끝.	55,984,005 bp
RNA발현패턴
	상단 표시 위치:
	뇌하수체; ; 소침샘; ; 뇌하수체 전엽; ; 잇몸; ; 위점막; ; 설체; ; 구강; ; 질; ; 흉선; ; 혀 윗면;
	상단 표시 위치:
	식도벽; ; 식도 상피; ; 노른자낭; ; 하악골; ; 턱밑샘; ; 이하선; ; 어금니; ; 배꼽; ; 입술; ; 뇌하수체;
	추가 참조 표현식 데이터
	; ;
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	DNA결합; 배열특이적 DNA결합; DNA결합전사활성화제, RNA중합효소II 특이적; RNA중합효소II 시스조절영역배열특이적 DNA결합; 단백질 결합; DNA결합전사인자활성; DNA결합전사인자활성, RNA중합효소II 특이적;
셀룰러 컴포넌트	세포질; 전사조절복합체; 핵소체; 핵;
생물학적 과정	골격계 발달; 뇌하수체 발달; 전사조절, DNA템플릿화; 해부학적 구조 형태 형성; RNA중합효소II에 의한 전사; 뒷다리 형태 형성; 전사, DNA 템플릿; 다세포 생물 발달; 연골 발달; 근아세포의 운명; 전사 음성 조절, DNA 템플릿; 아가미골격근발달; RNA중합효소II에 의한 전사의 양성 조절; 배아 뒷다리 형태 형성;
	출처:아미고 / QuickGO
맞춤법
	5307
	18740
	ENSG00000069011
	ENSMUSG000021506
	P78337
	P70314
	NM_002653
	NM_011097
	NP_002644
	NP_035227
	위키데이터
인간 보기/편집	마우스 표시/편집

쌍상 호메오도메인 1은 PITX1 ^[5]^[6]^[7]유전자에 의해 인체 내에서 암호화되는 단백질이다.

기능.

이 유전자는 호메오도메인 단백질의 바이코이드 클래스에 속하는 RIEG/PITX 호메오박스 패밀리의 일원을 암호화합니다.이 가족의 구성원들은 장기 발달과 좌우 비대칭에 관여한다.이 단백질은 프로락틴의 ^[7]기초 및 호르몬 조절 활동에 관여하는 전사 조절제 역할을 합니다.

임상 관련성

이 유전자의 돌연변이는 인간의 자폐증,^[8] 곤봉발^[9], 다지증과^[10] 관련이 있다.

병리학의 유전적 기반

PITX1 궤적에서의 게놈 배열은 리벤버그 ^[11]증후군과 관련이 있다.PITX1에서 Liebenberg는 PITX1 ^[11]궤적에 삽입 프로모터기를 유발하는 전위 또는 결실과 관련된다.PITX1 궤적 내의 미센스 돌연변이는 상염색체 우성 클럽푸트의 ^[9]발달과 관련이 있다.

상호 작용

PITX1은 뇌하수체 특이적 양성 전사 인자 ^[12]1과 상호작용하는 것으로 나타났다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG000069011 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000021506 - 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.
^ Crawford MJ, Lanctôt C, Tremblay JJ, Jenkins N, Gilbert D, Copeland N, Beatty B, Drouin J (1997). "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome". Mammalian Genome. 8 (11): 841–5. CiteSeerX 10.1.1.326.9619. doi:10.1007/s003359900589. PMID 9337397. S2CID 8557603.
^ Shang J, Li X, Ring HZ, Clayton DA, Francke U (February 1997). "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108–13. doi:10.1006/geno.1996.4558. PMID 9070926.
^ ^a ^b "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".
^ Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, et al. (December 2007). "Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis". BMC Medical Genetics. 8: 74. doi:10.1186/1471-2350-8-74. PMC 2222245. PMID 18053270.
^ ^a ^b Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, et al. (October 2011). "Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice". Human Molecular Genetics. 20 (20): 3943–52. doi:10.1093/hmg/ddr313. PMC 3177645. PMID 21775501.
^ Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, et al. (June 2012). "Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly". European Journal of Human Genetics. 20 (6): 705–8. doi:10.1038/ejhg.2011.264. PMC 3355260. PMID 22258522.
^ ^a ^b Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, et al. (October 2012). "Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus". American Journal of Human Genetics. 91 (4): 629–35. doi:10.1016/j.ajhg.2012.08.014. PMC 3484647. PMID 23022097.
^ Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG (July 1996). "P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development". Proceedings of the National Academy of Sciences of the United States of America. 93 (15): 7706–10. Bibcode:1996PNAS...93.7706S. doi:10.1073/pnas.93.15.7706. PMC 38811. PMID 8755540.

추가 정보

Shang J, Luo Y, Clayton DA (June 1997). "Backfoot is a novel homeobox gene expressed in the mesenchyme of developing hind limb". Developmental Dynamics. 209 (2): 242–53. doi:10.1002/(SICI)1097-0177(199706)209:2<242::AID-AJA10>3.0.CO;2-0. PMID 9186059.
Poulin G, Turgeon B, Drouin J (November 1997). "NeuroD1/beta2 contributes to cell-specific transcription of the proopiomelanocortin gene". Molecular and Cellular Biology. 17 (11): 6673–82. doi:10.1128/mcb.17.11.6673. PMC 232521. PMID 9343431.
Tremblay JJ, Drouin J (April 1999). "Egr-1 is a downstream effector of GnRH and synergizes by direct interaction with Ptx1 and SF-1 to enhance luteinizing hormone beta gene transcription". Molecular and Cellular Biology. 19 (4): 2567–76. doi:10.1128/mcb.19.4.2567. PMC 84049. PMID 10082522.
Tremblay JJ, Marcil A, Gauthier Y, Drouin J (June 1999). "Ptx1 regulates SF-1 activity by an interaction that mimics the role of the ligand-binding domain". The EMBO Journal. 18 (12): 3431–41. doi:10.1093/emboj/18.12.3431. PMC 1171422. PMID 10369682.
Pellegrini-Bouiller I, Manrique C, Gunz G, Grino M, Zamora AJ, Figarella-Branger D, Grisoli F, Jaquet P, Enjalbert A (June 1999). "Expression of the members of the Ptx family of transcription factors in human pituitary adenomas". The Journal of Clinical Endocrinology and Metabolism. 84 (6): 2212–20. doi:10.1210/jcem.84.6.5760. PMID 10372733.
Tahara S, Kurotani R, Sanno N, Takumi I, Yoshimura S, Osamura RY, Teramoto A (October 2000). "Expression of pituitary homeo box 1 (Ptx1) in human non-neoplastic pituitaries and pituitary adenomas". Modern Pathology. 13 (10): 1097–108. doi:10.1038/modpathol.3880204. PMID 11048804.
Quentien MH, Manfroid I, Moncet D, Gunz G, Muller M, Grino M, Enjalbert A, Pellegrini I (November 2002). "Pitx factors are involved in basal and hormone-regulated activity of the human prolactin promoter". The Journal of Biological Chemistry. 277 (46): 44408–16. doi:10.1074/jbc.M207824200. PMID 12223489.
Ghosh AK, Majumder M, Steele R, Ray R, Ray RB (February 2003). "Modulation of interferon expression by hepatitis C virus NS5A protein and human homeodomain protein PTX1". Virology. 306 (1): 51–9. doi:10.1016/S0042-6822(02)00029-6. PMID 12620797.
Hiroi N, Kino T, Bassett M, Rainey WE, Phung M, Abu-Asab M, Fojo T, Briata P, Chrousos GP, Bornstein SR (May 2003). "Pituitary homeobox factor 1, a novel transcription factor in the adrenal regulating steroid 11beta-hydroxylase". Hormone and Metabolic Research. 35 (5): 273–8. doi:10.1055/s-2003-41301. PMID 12915995.
Kolfschoten IG, van Leeuwen B, Berns K, Mullenders J, Beijersbergen RL, Bernards R, Voorhoeve PM, Agami R (June 2005). "A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity". Cell. 121 (6): 849–58. doi:10.1016/j.cell.2005.04.017. hdl:1874/17813. PMID 15960973. S2CID 18065721.
Lord RV, Brabender J, Wickramasinghe K, DeMeester SR, Holscher A, Schneider PM, Danenberg PV, DeMeester TR (November 2005). "Increased CDX2 and decreased PITX1 homeobox gene expression in Barrett's esophagus and Barrett's-associated adenocarcinoma". Surgery. 138 (5): 924–31. doi:10.1016/j.surg.2005.05.007. PMID 16291394.
Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983. S2CID 7827573.
Picard C, Azeddine B, Moldovan F, Martel-Pelletier J, Moreau A (September 2007). "New emerging role of pitx1 transcription factor in osteoarthritis pathogenesis". Clinical Orthopaedics and Related Research. 462: 59–66. doi:10.1097/BLO.0b013e3180d09d9c. PMID 17549029. S2CID 8232057.
Qi DL, Ohhira T, Fujisaki C, Inoue T, Ohta T, Osaki M, Ohshiro E, Seko T, Aoki S, Oshimura M, Kugoh H (April 2011). "Identification of PITX1 as a TERT suppressor gene located on human chromosome 5". Molecular and Cellular Biology. 31 (8): 1624–36. doi:10.1128/MCB.00470-10. PMC 3126332. PMID 21300782.

외부 링크

- PITX1+단백질+미국 국립의학도서관의 의학 주제 제목(MeSH)
- OMIM의 http://omim.org/entry/602149은 PITX1에 대한 최신 정보를 보유하고 있습니다.
- NIH의 https://ghr.nlm.nih.gov/gene/PITX1는 PITX1 돌연변이의 영향에 대한 요약을 제공한다.

이 기사에는 미국 국립 의학 도서관(미국 국립 의학 도서관)의 공공 도메인 텍스트가 포함되어 있습니다.

인간 염색체 5번 유전자에 대한 이 기사는 짧은 글이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG000069011 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000021506 - 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.

[pmid9337397-5] Crawford MJ, Lanctôt C, Tremblay JJ, Jenkins N, Gilbert D, Copeland N, Beatty B, Drouin J (1997). "Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome". Mammalian Genome. 8 (11): 841–5. CiteSeerX 10.1.1.326.9619. doi:10.1007/s003359900589. PMID 9337397. S2CID 8557603.

[pmid9070926-6] Shang J, Li X, Ring HZ, Clayton DA, Francke U (February 1997). "Backfoot, a novel homeobox gene, maps to human chromosome 5 (BFT) and mouse chromosome 13 (Bft)". Genomics. 40 (1): 108–13. doi:10.1006/geno.1996.4558. PMID 9070926.

[entrez-7] "Entrez Gene: PITX1 paired-like homeodomain transcription factor 1".

[8] Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, et al. (December 2007). "Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis". BMC Medical Genetics. 8: 74. doi:10.1186/1471-2350-8-74. PMC 2222245. PMID 18053270.

[Alvarado_2011-9] Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, et al. (October 2011). "Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice". Human Molecular Genetics. 20 (20): 3943–52. doi:10.1093/hmg/ddr313. PMC 3177645. PMID 21775501.

[pmid.222585222-10] Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, et al. (June 2012). "Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly". European Journal of Human Genetics. 20 (6): 705–8. doi:10.1038/ejhg.2011.264. PMC 3355260. PMID 22258522.

[Spielmann_2012-11] Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, et al. (October 2012). "Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus". American Journal of Human Genetics. 91 (4): 629–35. doi:10.1016/j.ajhg.2012.08.014. PMC 3484647. PMID 23022097.

[pmid8755540-12] Szeto DP, Ryan AK, O'Connell SM, Rosenfeld MG (July 1996). "P-OTX: a PIT-1-interacting homeodomain factor expressed during anterior pituitary gland development". Proceedings of the National Academy of Sciences of the United States of America. 93 (15): 7706–10. Bibcode:1996PNAS...93.7706S. doi:10.1073/pnas.93.15.7706. PMC 38811. PMID 8755540.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

[12]

Search