SNAI1

SNAI1
사용 가능한 구조
PDB	동원체 검색: PDBe RCSB
PDB ID 코드 목록
	2Y48, 3W5K, 4QLI
식별자
다른 이름	SNAI1, SLUGH2, SNA, SNAH, SNAIL, SNAIL1, dJ710H13.1, snail family zinc finger 1, snail family transcriptional repressor 1
외부 ID	OMIM: 604238 MGI: 98330 HomoloGene: 4363 GeneCards: SNAI1
유전자 위치 (인간)
염색체	20번 염색체
끝	49,988,886 bp
유전자 위치 (쥐)
염색체	2번 염색체 (쥐)
끝	167,384,734 bp
RNA 발현 패턴
	최상위 발현
	쓸개; ; 왼자궁관; ; 생식샘; ; right lobe of thyroid gland; ; left lobe of thyroid gland; ; 상행대동맥; ; upper lobe of left lung; ; 오른허파; ; 왼관상동맥; ; right auricle;
	최상위 발현
	lamina propria of urethra; ; neural crest; ; tail of embryo; ; lamina propria of vagina; ; desmocranium; ; 중배엽; ; 배; ; Primary palate; ; 과립구; ; 머리덮개뼈;
	추가 참조 발현 데이터
	추가 참조 발현 데이터
유전자 온톨로지
분자 함수	sequence-specific DNA binding; DNA 결합; RNA polymerase II transcription regulatory region sequence-specific DNA binding; 금속 이온 결합; kinase binding; 단백질 결합; DNA-binding transcription repressor activity, RNA polymerase II-specific; nucleic acid binding; DNA-binding transcription factor activity, RNA polymerase II-specific; E-box binding;
세포 성분	세포핵; 세포질; 핵질; pericentric heterochromatin; 세포액;
생물학적 과정	trophoblast giant cell differentiation; roof of mouth development; regulation of bicellular tight junction assembly; positive regulation of cell migration; regulation of transcription by RNA polymerase II; epithelial to mesenchymal transition involved in endocardial cushion formation; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage; multicellular organism development; negative regulation of vitamin D biosynthetic process; positive regulation of transcription, DNA-templated; negative regulation of DNA damage response, signal transduction by p53 class mediator; osteoblast differentiation; negative regulation of cell differentiation involved in embryonic placenta development; cartilage morphogenesis; hair follicle morphogenesis; left/right pattern formation; mesoderm development; negative regulation of transcription, DNA-templated; cell migration; negative regulation of transcription by RNA polymerase II; Notch signaling involved in heart development; mesoderm formation; epithelial to mesenchymal transition; positive regulation of epithelial to mesenchymal transition; heterochromatin organization; aortic valve morphogenesis;
	출처: Amigo / QuickGO
동원체
	6615
	20613
	ENSG00000124216
	ENSMUSG00000042821
	O95863
	Q02085
	NM_005985
	NM_011427
	NP_005976
	NP_035557
	위키데이터
인간 보기/편집	쥐 보기/편집

아연집게 단백질 SNAI1 (Zinc finger protein SNAI1)은 단백질로 SNAI1유전자에 의해 암호화되어있다.^[5]^[6]

기능

초파리 배아 단백질 SNAI1은 아연집게 전사 억제자로 중배엽내의 외배엽유전자의 발현을 하향 조절한다. 이 유전자에 의해 암호화 된 핵단백질은 구조적으로 초파리의 SNAI1 단백질과 유사하다. 그리고 발생하는 배아에 있어 중배엽의 형성에 매우 중요하다 생각된다. 2번 염색체의 최소한 두 가지의 변형된 위유전자가 발견되었다.^[6]

임상적 중요성

SNAI1 유전자는 E-캐드헤린의 CDH1유전자의 발현을 하향 조절하여 EMT(epithelial-mesenchymal transition)을 유발하여 유방암의 재발하게 함을 보여주었다.^[7]

상호작용

SNAI1은 CTDSPL^[8]과 CTDSP1^[8]과 CTDSP2과 함께 단백질 상호작용을 보여준다.^[8]

각주

↑ ^가 ^나 ^다 GRCh38: Ensembl release 89: ENSG00000124216 - 앙상블, May 2017
↑ ^가 ^나 ^다 GRCm38: Ensembl release 89: ENSMUSG00000042821 - 앙상블, 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》.
↑ Paznekas WA; Okajima K; Schertzer M; Wood S; Jabs EW (2000년 2월). “Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P)”. 《Genomics》 62 (1): 42–9. doi:10.1006/geno.1999.6010. PMID 10585766.
↑ ^가 ^나 “Entrez Gene: SNAI1 snail homolog 1 (Drosophila)”.
↑ Davidson NE; Sukumar S (2005년 9월). “Of Snail, mice, and women”. 《Cancer Cell》 8 (3): 173–4. doi:10.1016/j.ccr.2005.08.006. PMID 16169460.
↑ ^가 ^나 ^다 Wu Y; Evers BM; Zhou BP (2009년 1월). “Small C-terminal domain phosphatase enhances snail activity through dephosphorylation”. 《J. Biol. Chem.》 284 (1): 640–8. doi:10.1074/jbc.M806916200. PMC 2610500. PMID 19004823.

참고 자료

Twigg SR; Wilkie AO (1999). “Characterisation of the human snail (SNAI1) gene and exclusion as a major disease gene in craniosynostosis.”. 《Hum. Genet.》 105 (4): 320–6. doi:10.1007/s004390051108. PMID 10543399.
Batlle E; Sancho E; Francí C; 외. (2000). “The transcription factor snail is a repressor of E-cadherin gene expression in epithelial tumour cells.”. 《Nat. Cell Biol.》 2 (2): 84–9. doi:10.1038/35000034. PMID 10655587.
Smith S; Metcalfe JA; Elgar G (2000). “Identification and analysis of two snail genes in the pufferfish (Fugu rubripes) and mapping of human SNA to 20q.”. 《Gene》 247 (1–2): 119–28. doi:10.1016/S0378-1119(00)00110-4. PMID 10773451.
Okubo T; Truong TK; Yu B; 외. (2001). “Down-regulation of promoter 1.3 activity of the human aromatase gene in breast tissue by zinc-finger protein, snail (SnaH)”. 《Cancer Res.》 61 (4): 1338–46. PMID 11245431.
Deloukas P; Matthews LH; Ashurst J; 외. (2002). “The DNA sequence and comparative analysis of human chromosome 20”. 《Nature》 414 (6866): 865–71. doi:10.1038/414865a. PMID 11780052.
Blanco MJ; Moreno-Bueno G; Sarrio D; 외. (2002). “Correlation of Snail expression with histological grade and lymph node status in breast carcinomas”. 《Oncogene》 21 (20): 3241–6. doi:10.1038/sj.onc.1205416. PMID 12082640.
Guaita S; Puig I; Franci C; 외. (2002). “Snail induction of epithelial to mesenchymal transition in tumor cells is accompanied by MUC1 repression and ZEB1 expression”. 《J. Biol. Chem.》 277 (42): 39209–16. doi:10.1074/jbc.M206400200. PMID 12161443.
Strausberg RL; Feingold EA; Grouse LH; 외. (2003). “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.
Yokoyama K; Kamata N; Fujimoto R; 외. (2003). “Increased invasion and matrix metalloproteinase-2 expression by Snail-induced mesenchymal transition in squamous cell carcinomas”. 《Int. J. Oncol.》 22 (4): 891–8. PMID 12632084.
Ikenouchi J; Matsuda M; Furuse M; Tsukita S (2004). “Regulation of tight junctions during the epithelium-mesenchyme transition: direct repression of the gene expression of claudins/occludin by Snail”. 《J. Cell. Sci.》 116 (Pt 10): 1959–67. doi:10.1242/jcs.00389. PMID 12668723.
Domínguez D; Montserrat-Sentís B; Virgós-Soler A; 외. (2003). “Phosphorylation regulates the subcellular location and activity of the snail transcriptional repressor”. 《Mol. Cell. Biol.》 23 (14): 5078–89. doi:10.1128/MCB.23.14.5078-5089.2003. PMC 162233. PMID 12832491.
Imai T; Horiuchi A; Wang C; 외. (2003). “Hypoxia attenuates the expression of E-cadherin via up-regulation of SNAIL in ovarian carcinoma cells”. 《Am. J. Pathol.》 163 (4): 1437–47. doi:10.1016/S0002-9440(10)63501-8. PMC 1868286. PMID 14507651.
Miyoshi A; Kitajima Y; Sumi K; 외. (2004). “Snail and SIP1 increase cancer invasion by upregulating MMP family in hepatocellular carcinoma cells”. 《Br. J. Cancer》 90 (6): 1265–73. doi:10.1038/sj.bjc.6601685. PMC 2409652. PMID 15026811.
Ohkubo T; Ozawa M (2004). “The transcription factor Snail downregulates the tight junction components independently of E-cadherin downregulation”. 《J. Cell. Sci.》 117 (Pt 9): 1675–85. doi:10.1242/jcs.01004. PMID 15075229.
Barberà MJ; Puig I; Domínguez D; 외. (2004). “Regulation of Snail transcription during epithelial to mesenchymal transition of tumor cells”. 《Oncogene》 23 (44): 7345–54. doi:10.1038/sj.onc.1207990. PMID 15286702.
Beausoleil SA; Jedrychowski M; Schwartz D; 외. (2004). “Large-scale characterization of HeLa cell nuclear phosphoproteins”. 《Proc. Natl. Acad. Sci. U.S.A.》 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Kajita M; McClinic KN; Wade PA (2004). “Aberrant expression of the transcription factors snail and slug alters the response to genotoxic stress”. 《Mol. Cell. Biol.》 24 (17): 7559–66. doi:10.1128/MCB.24.17.7559-7566.2004. PMC 506998. PMID 15314165.
Zhou BP; Deng J; Xia W; 외. (2004). “Dual regulation of Snail by GSK-3beta-mediated phosphorylation in control of epithelial-mesenchymal transition”. 《Nat. Cell Biol.》 6 (10): 931–40. doi:10.1038/ncb1173. PMID 15448698.
Saito T; Oda Y; Kawaguchi K; 외. (2004). “E-cadherin mutation and Snail overexpression as alternative mechanisms of E-cadherin inactivation in synovial sarcoma”. 《Oncogene》 23 (53): 8629–38. doi:10.1038/sj.onc.1207960. PMID 15467754.

[refGRCh38Ensembl-1] 가 ^나 ^다 GRCh38: Ensembl release 89: ENSG00000124216 - 앙상블, May 2017

[refGRCm38Ensembl-2] 가 ^나 ^다 GRCm38: Ensembl release 89: ENSMUSG00000042821 - 앙상블, 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》.

[pmid10585766-5] Paznekas WA; Okajima K; Schertzer M; Wood S; Jabs EW (2000년 2월). “Genomic organization, expression, and chromosome location of the human SNAIL gene (SNAI1) and a related processed pseudogene (SNAI1P)”. 《Genomics》 62 (1): 42–9. doi:10.1006/geno.1999.6010. PMID 10585766.

[entrez-6] 가 ^나 “Entrez Gene: SNAI1 snail homolog 1 (Drosophila)”.

[pmid16169460-7] Davidson NE; Sukumar S (2005년 9월). “Of Snail, mice, and women”. 《Cancer Cell》 8 (3): 173–4. doi:10.1016/j.ccr.2005.08.006. PMID 16169460.

[pmid19004823-8] 가 ^나 ^다 Wu Y; Evers BM; Zhou BP (2009년 1월). “Small C-terminal domain phosphatase enhances snail activity through dephosphorylation”. 《J. Biol. Chem.》 284 (1): 640–8. doi:10.1074/jbc.M806916200. PMC 2610500. PMID 19004823.

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