PHC1

PHC1
사용 가능한 구조
PDB	Ortholog 검색: PDBe RCSB
PDB ID 코드 목록
	2L8E
식별자
에일리어스	PHC1, EDR1, HPH1, MCPH11, RA28, 다종 상동성 1
외부 ID	OMIM: 602978 MGI: 103248 HomoloGene: 107079 GeneCard: PHC1
유전자 위치(인간)
크르.	12번 염색체(인간)
끝.	8,941,467 bp
유전자 위치(마우스)
크르.	6번 염색체(쥐)
끝.	122,317,128 bp
RNA발현패턴
	상단 표시 위치:
	우측 자궁관; ; 뇌하수체 전엽; ; 신경절 융기; ; 자궁경관; ; 갑상선 우엽; ; 갑상선 좌엽; ; 우관상 동맥; ; 경골 신경; ; 상행 대동맥; ; 슬와 동맥;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 존재론
분자 함수	DNA결합; 아연 이온 결합; 금속 이온 결합; GO:0001948 단백질 결합;
셀룰러 컴포넌트	PcG단백질복합체; PRC1 복합체; 핵; 핵소체;
생물학적 과정	다세포 생물 발달; 히스톤 유비쿼티네이션; G0에서 G1로의 이행에 대한 부정적 조절;
	출처:아미고 / QuickGO
맞춤법
	1911
	13619
	ENSG00000111752
	ENSMUSG000040669
	P78364
	Q64028
	NM_004426
	NM_001042623; NM_001271579; NM_007905; NM_001355215
	NP_004417
NP_001036088; NP_001258508; NP_031931; NP_001342144; NP_001395176;
	NP_001395177; NP_001395178; NP_001395179
	위키데이터
인간 보기/편집	마우스 표시/편집

다종양단백질 1은 PHC1 유전자에 ^[5]^[6]의해 인체 내에서 코드되는 단백질이다.

기능.

이 유전자는 폴리콤 유전자의 일원인 드로소필라 다종 유전자의 상동체이다.이 유전자 제품은 EDR2와 척추동물 폴리콤 단백질 BMI1을 포함하는 다량체 단백질 복합체의 구성요소이다.유전자 생성물, EDR2 단백질, 그리고 드로소필라 다종 단백질은 호몰로지 도메인 I과 II라고 불리는 고도로 보존된 두 개의 도메인을 공유합니다.이러한 도메인은 단백질-단백질 상호작용에 관여하며, 이 유전자와 EDR2 ^[6]단백질에 의해 코드된 단백질의 헤테로다이머화를 매개할 수 있다.

이 유전자의 돌연변이는 1차 소두증 ^[7]사례와 연관되어 왔다.

상호 작용

PHC1은 BMI1^[5]^[8] 및 PHC2와 ^[5]^[9]상호작용하는 것으로 나타났습니다.

레퍼런스

^ ^a ^b ^c GRCh38: 앙상블 릴리즈 89: ENSG00000111752: 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리즈 89: ENSMUSG000040669 - 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.
^ ^a ^b ^c Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D, Alkema MJ, van Lohuizen M, van Driel R, Otte AP (Apr 1997). "Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic". Molecular and Cellular Biology. 17 (4): 2326–35. doi:10.1128/mcb.17.4.2326. PMC 232081. PMID 9121482.
^ ^a ^b "Entrez Gene: PHC1 polyhomeotic homolog 1 (Drosophila)".
^ Awad, Salma; Al-Dosari, Mohammed S; Al-Yacoub, Nadya; Colak, Dilek; Salih, Mustafa A; Alkuraya, Fowzan S; Poizat, Coralie (2013-06-01). "Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis". Human Molecular Genetics. 22 (11): 2200–2213. doi:10.1093/hmg/ddt072. ISSN 1460-2083. PMID 23418308.
^ Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema MJ, Saurin AJ, Freemont PS, van Driel R, Otte AP (Jul 1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor". Molecular and Cellular Biology. 17 (7): 4105–13. doi:10.1128/mcb.17.7.4105. PMC 232264. PMID 9199346.
^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

추가 정보

Alkema MJ, Bronk M, Verhoeven E, Otte A, van 't Veer LJ, Berns A, van Lohuizen M (Jan 1997). "Identification of Bmi1-interacting proteins as constituents of a multimeric mammalian polycomb complex". Genes & Development. 11 (2): 226–40. doi:10.1101/gad.11.2.226. PMID 9009205.
Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema MJ, Saurin AJ, Freemont PS, van Driel R, Otte AP (Jul 1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor". Molecular and Cellular Biology. 17 (7): 4105–13. doi:10.1128/mcb.17.7.4105. PMC 232264. PMID 9199346.
Tomotsune D, Takihara Y, Berger J, Duhl D, Joo S, Kyba M, Shirai M, Ohta H, Matsuda Y, Honda BM, Simon J, Shimada K, Brock HW, Randazzo F (Dec 1999). "A novel member of murine Polycomb-group proteins, Sex comb on midleg homolog protein, is highly conserved, and interacts with RAE28/mph1 in vitro". Differentiation; Research in Biological Diversity. 65 (4): 229–39. doi:10.1046/j.1432-0436.1999.6540229.x. PMID 10653359.
Ohta H, Tokimasa S, Zou Z, Funaki S, Kurahashi H, Takahashi Y, Kimura M, Matsuoka R, Horie M, Hara J, Shimada K, Takihara Y (2000). "Structure and chromosomal localization of the RAE28/HPH1 gene, a human homologue of the polyhomeotic gene". DNA Sequence. 11 (1–2): 61–73. doi:10.3109/10425170009033970. PMID 10902910. S2CID 12637692.
Levine SS, Weiss A, Erdjument-Bromage H, Shao Z, Tempst P, Kingston RE (Sep 2002). "The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans". Molecular and Cellular Biology. 22 (17): 6070–8. doi:10.1128/MCB.22.17.6070-6078.2002. PMC 134016. PMID 12167701.
Suzuki M, Mizutani-Koseki Y, Fujimura Y, Miyagishima H, Kaneko T, Takada Y, Akasaka T, Tanzawa H, Takihara Y, Nakano M, Masumoto H, Vidal M, Isono K, Koseki H (Sep 2002). "Involvement of the Polycomb-group gene Ring1B in the specification of the anterior-posterior axis in mice". Development. 129 (18): 4171–83. PMID 12183370.
Luo L, Yang X, Takihara Y, Knoetgen H, Kessel M (Feb 2004). "The cell-cycle regulator geminin inhibits Hox function through direct and polycomb-mediated interactions" (PDF). Nature. 427 (6976): 749–53. doi:10.1038/nature02305. hdl:11858/00-001M-0000-0012-EE33-0. PMID 14973489. S2CID 8020382.
Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW (Jun 2004). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nature Biotechnology. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197. S2CID 27764390.
Wang H, Wang L, Erdjument-Bromage H, Vidal M, Tempst P, Jones RS, Zhang Y (Oct 2004). "Role of histone H2A ubiquitination in Polycomb silencing". Nature. 431 (7010): 873–8. doi:10.1038/nature02985. PMID 15386022. S2CID 4344378.
Voncken JW, Niessen H, Neufeld B, Rennefahrt U, Dahlmans V, Kubben N, Holzer B, Ludwig S, Rapp UR (Feb 2005). "MAPKAP kinase 3pK phosphorylates and regulates chromatin association of the polycomb group protein Bmi1". The Journal of Biological Chemistry. 280 (7): 5178–87. doi:10.1074/jbc.M407155200. PMID 15563468.

인간 염색체 12번 유전자에 대한 이 기사는 뭉툭한 것이다.위키피디아를 확장함으로써 위키피디아를 도울 수 있습니다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리즈 89: ENSG00000111752: 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리즈 89: ENSMUSG000040669 - 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.

[pmid9121482-5] Gunster MJ, Satijn DP, Hamer KM, den Blaauwen JL, de Bruijn D, Alkema MJ, van Lohuizen M, van Driel R, Otte AP (Apr 1997). "Identification and characterization of interactions between the vertebrate polycomb-group protein BMI1 and human homologs of polyhomeotic". Molecular and Cellular Biology. 17 (4): 2326–35. doi:10.1128/mcb.17.4.2326. PMC 232081. PMID 9121482.

[entrez-6] "Entrez Gene: PHC1 polyhomeotic homolog 1 (Drosophila)".

[7] Awad, Salma; Al-Dosari, Mohammed S; Al-Yacoub, Nadya; Colak, Dilek; Salih, Mustafa A; Alkuraya, Fowzan S; Poizat, Coralie (2013-06-01). "Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis". Human Molecular Genetics. 22 (11): 2200–2213. doi:10.1093/hmg/ddt072. ISSN 1460-2083. PMID 23418308.

[pmid9199346-8] Satijn DP, Gunster MJ, van der Vlag J, Hamer KM, Schul W, Alkema MJ, Saurin AJ, Freemont PS, van Driel R, Otte AP (Jul 1997). "RING1 is associated with the polycomb group protein complex and acts as a transcriptional repressor". Molecular and Cellular Biology. 17 (7): 4105–13. doi:10.1128/mcb.17.7.4105. PMC 232264. PMID 9199346.

[pmid16189514-9] Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.

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PHC1

네임스페이스

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목차

기능.

상호 작용

레퍼런스

추가 정보