SNAI1

SNAI1
사용 가능한 구조
PDB동원체 검색: PDBe RCSB
PDB ID 코드 목록

2Y48, 3W5K, 4QLI

식별자
다른 이름SNAI1, SLUGH2, SNA, SNAH, SNAIL, SNAIL1, dJ710H13.1, snail family zinc finger 1, snail family transcriptional repressor 1
외부 IDOMIM: 604238 MGI: 98330 HomoloGene: 4363 GeneCards: SNAI1
유전자 위치 (인간)
20번 염색체
염색체20번 염색체[1]
20번 염색체
SNAI1의 유전자 위치
SNAI1의 유전자 위치
자리20q13.13시작49,982,980 bp[1]
49,988,886 bp[1]
유전자 위치 ()
2번 염색체 (쥐)
염색체2번 염색체 (쥐)[2]
2번 염색체 (쥐)
SNAI1의 유전자 위치
SNAI1의 유전자 위치
자리2 H3|2 87.33 cM시작167,380,115 bp[2]
167,384,734 bp[2]
RNA 발현 패턴
Bgee
인간(동원체)
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


  • Primary palate

  • 과립구

  • 머리덮개뼈
추가 참조 발현 데이터
BioGPS
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
인간
앙트레

6615

20613

앙상블

ENSG00000124216

ENSMUSG00000042821

유니프롯

O95863

Q02085

RefSeq (mRNA)

NM_005985

NM_011427

RefSeq(단백질)

NP_005976

NP_035557

위치(UCSC)Chr 20: 49.98 – 49.99 MbChr 2: 167.38 – 167.38 Mb
PubMed 검색[3][4]
위키데이터
인간 보기/편집쥐 보기/편집

아연집게 단백질 SNAI1 (Zinc finger protein SNAI1)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

  1. GRCh38: Ensembl release 89: ENSG00000124216 - 앙상블, May 2017
  2. 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》. 
  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. 
  6. “Entrez Gene: SNAI1 snail homolog 1 (Drosophila)”. 
  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. 
  8. 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.