PTEN (유전자)

PTEN
사용 가능한 구조 PDB 동원체 검색: PDBe RCSB PDB ID 코드 목록 4O1V, 1D5R, 2KYL, 5BZX, 5BUG, 5BZZ
식별자
다른 이름	PTEN, 10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, TEP1, phosphatase and tensin homolog, Phosphatase and tensin homolog, PTENbeta
외부 ID	OMIM: 601728 MGI: 109583 HomoloGene: 265 GeneCards: PTEN
유전자 위치 (인간) 염색체 10번 염색체 자리 10q23.31 시작 87,862,638 bp 끝 87,971,930 bp
유전자 위치 (쥐) 염색체 19번 염색체 (쥐) 자리 19 C1|19 28.14 cM 시작 32,734,897 bp 끝 32,803,560 bp
RNA 발현 패턴 Bgee 인간 쥐(동원체) 최상위 발현 sperm 내피세포 아킬레스건 skin of arm pancreatic epithelial cell middle temporal gyrus 벽가슴막 mucosa of ileum cardiac muscle tissue of right atrium 내장가슴막 최상위 발현 arcuate nucleus 늑간근 median eminence olfactory tubercle 과립구 태아 Rostral migratory stream 발목 머리덮개뼈 subcutaneous adipose tissue 추가 참조 발현 데이터 BioGPS n/a
유전자 온톨로지 분자 함수 phosphoprotein phosphatase activity phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity phosphatidylinositol-3-phosphatase activity protein serine/threonine phosphatase activity protein tyrosine phosphatase activity protein tyrosine/serine/threonine phosphatase activity enzyme binding platelet-derived growth factor receptor binding 단백질 결합 protein kinase binding phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity anaphase-promoting complex binding identical protein binding 가수분해효소 활성 lipid binding ubiquitin-specific protease binding ionotropic glutamate receptor binding protein tyrosine kinase binding inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity PDZ domain binding 세포 성분 세포질 postsynaptic membrane 세포밖공간 미토콘드리아 neuron projection cytoplasmic side of plasma membrane 세포핵 cell projection dendritic spine myelin sheath adaxonal region Schmidt-Lanterman incisure apical plasma membrane 세포막 PML body 핵질 세포액 postsynaptic cytosol 생물학적 과정 multicellular organismal response to stress regulation of neuron projection development response to zinc ion positive regulation of TRAIL-activated apoptotic signaling pathway response to organic substance negative regulation of G1/S transition of mitotic cell cycle regulation of B cell apoptotic process 혈관신생 positive regulation of ERK1 and ERK2 cascade negative regulation of epithelial cell proliferation 장기억압 positive regulation of excitatory postsynaptic potential 세포 증식 response to ethanol neuron projection development cellular response to hypoxia negative regulation of cell size negative regulation of cell population proliferation prepulse inhibition regulation of myeloid cell apoptotic process male mating behavior locomotory behavior dentate gyrus development positive regulation of apoptotic signaling pathway inositol phosphate metabolic process response to arsenic-containing substance 기억 forebrain morphogenesis dendritic spine morphogenesis heart development central nervous system development negative regulation of axonogenesis regulation of cellular localization synapse maturation learning or memory 사회행동 synapse assembly cellular response to decreased oxygen levels prostate gland growth platelet-derived growth factor receptor signaling pathway negative regulation of dendritic spine morphogenesis brain morphogenesis negative regulation of protein phosphorylation regulation of cyclin-dependent protein serine/threonine kinase activity regulation of cellular component size response to nutrient negative regulation of synaptic vesicle clustering postsynaptic density assembly protein dephosphorylation protein stabilization positive regulation of DNA-binding transcription factor activity 세포자멸사 과정의 하향조절 response to glucose nervous system development adult behavior phosphatidylinositol dephosphorylation positive regulation of ubiquitin-dependent protein catabolic process response to inorganic substance canonical Wnt signaling pathway phosphatidylinositol biosynthetic process negative regulation of organ growth negative regulation of ribosome biogenesis 탈인산화 locomotor rhythm central nervous system myelin maintenance regulation of axon regeneration response to estradiol response to ATP negative regulation of phagocytosis response to organic cyclic compound protein kinase B signaling cardiac muscle tissue development 지질 대사 노화 neuron-neuron synaptic transmission negative regulation of excitatory postsynaptic potential presynaptic membrane assembly regulation of cell cycle maternal behavior rhythmic synaptic transmission positive regulation of cell population proliferation positive regulation of apoptotic process negative regulation of ERK1 and ERK2 cascade cell migration negative regulation of myelination inositol phosphate dephosphorylation regulation of synaptic transmission, GABAergic endothelial cell migration central nervous system neuron axonogenesis 장기강화 peptidyl-tyrosine dephosphorylation negative regulation of axon regeneration negative regulation of cardiac muscle cell proliferation positive regulation of ubiquitin protein ligase activity protein deubiquitination negative regulation of epithelial to mesenchymal transition negative regulation of keratinocyte migration cellular response to electrical stimulus negative regulation of wound healing, spreading of epidermal cells negative regulation of phosphatidylinositol 3-kinase signaling positive regulation of gene expression positive regulation of cardiac muscle cell apoptotic process response to activity cellular response to insulin stimulus cellular response to leptin stimulus positive regulation of neuron differentiation cellular response to ethanol negative regulation of potassium ion transmembrane transporter activity cellular response to nerve growth factor stimulus cellular response to insulin-like growth factor stimulus negative regulation of signaling receptor activity negative regulation of protein kinase B signaling 세포자살 negative regulation of cell migration regulation of protein stability negative regulation of focal adhesion assembly negative regulation of vascular associated smooth muscle cell proliferation transcription initiation from RNA polymerase II promoter negative regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of neuron projection development 출처: Amigo / QuickGO
동원체 종 인간 쥐 앙트레 5728 19211 앙상블 ENSG00000171862 ENSG00000284792 ENSMUSG00000013663 유니프롯 P60484 O08586 RefSeq (mRNA) NM_000314 NM_001304717 NM_001304718 NM_008960 NM_177096 RefSeq(단백질) NP_000305 NP_001291646 NP_001291647 NP_000305.3 NP_032986 위치(UCSC) Chr 10: 87.86 – 87.97 Mb Chr 19: 32.73 – 32.8 Mb PubMed 검색
위키데이터
인간 보기/편집 쥐 보기/편집

PTEN(Phosphatase and tensin homolog, 포스파타제 및 텐신 동족체)은 인간의 포스파타제이며 PTEN 유전자에 의해 암호화된다. 이 유전자의 돌연변이는 많은 암, 특히 교모세포종, 폐암, 유방암, 전립선암 발병의 한 단계이다. PTEN(ortholog)에 해당하는 유전자는 완전한 게놈 데이터를 이용할 수 있는 대부분의 포유동물에서 확인되었다.

PTEN은 포스파타제 단백질 생성물의 작용을 통해 종양 억제 유전자로 작용한다. 이 포스파타제는 세포주기 조절에 관여하여 세포가 너무 빠르게 성장하고 분열하는 것을 방지한다. 이는 많은 항암제의 표적이 된다.

이 유전자에 의해 암호화된 단백질은 포스파티딜이노시톨-3,4,5-트리포스페이트 3-포스파타제이다. 이는 이중 특이성 단백질 티로신 포스파타제와 유사한 촉매 도메인뿐만 아니라 텐신 유사 도메인을 포함한다. 대부분의 단백질 티로신 포스파타제와는 달리, 이 단백질은 포스포이노시티드 기질을 우선적으로 탈인산화한다. 이는 세포 내 포스파티딜이노시톨-3,4,5-트리스포스페이트의 세포내 수준을 부정적으로 조절하고 Akt/PKB 신호 전달 경로를 부정적으로 조절함으로써 종양 억제자로서 기능한다.

외부 링크

• GeneReviews/NCBI/NIH/UW entry on PTEN Hamartoma Tumor Syndrome (PHTS)
• 의학주제표목 (MeSH)의 PTEN+Protein
• “PTEN Gene - phosphatase and tensin homolog”. 《GeneCards》. The Weizmann Institute of Science. 2007년 10월 8일에 원본 문서에서 보존된 문서. 2009년 3월 12일에 확인함. 
• “Gene overview of all published AD-association studies for PTEN”. 《Alzforum: AlzGene》. Alzheimer Research Forum. 2009년 2월 10일에 원본 문서에서 보존된 문서. 2009년 3월 12일에 확인함. 
• Research shows gene defect's role in autism-like behavior
• Dance Your PhD 2017 : A Story of Tumor Suppression Deepti Mathur. PTEN and cancer explained in dance. A metabolic pathway uses glutamine to create a component of DNA. This pathway is regulated in part by PTEN. Loss of PTEN allows the pathway to go into overdrive, leading to cancer. A drug that interrupts the PTEN pathway preferentially destroys cancer cells.
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN