ABL (유전자)

ABL은 만성 골수성 백혈병과 관련되어 있는 유전자이다. 평소 ABL 유전자가 9번 염색체에 정상적으로 위치할 때에는 백혈구의 증식 신호를 잘 통제할 수 있지만 염색체의 전위로 인해 22번 염색체의 BCR 유전자와 융합되면 백혈구의 증식신호를 잘 통제하지 못하게 된다.

1. GRCh38: Ensembl release 89: ENSG00000097007 - 앙상블, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026842 - 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》.

ABL1
사용 가능한 구조 PDB 동원체 검색: PDBe RCSB PDB ID 코드 목록 1AB2, 1AWO, 1BBZ, 1JU5, 1OPL, 1ZZP, 2ABL, 2E2B, 2FO0, 2G1T, 2G2F, 2G2H, 2G2I, 2GQG, 2HIW, 2HYY, 2HZ0, 2HZ4, 2HZI, 2V7A, 3CS9, 3EG0, 3EG1, 3EG2, 3EG3, 3EGU, 3K2M, 3QRI, 3QRJ, 3QRK, 3T04, 3UE4, 3UYO, 3PYY, 4J9B, 4J9C, 4J9D, 4J9E, 4J9F, 4J9G, 4J9H, 4J9I, 4JJB, 4JJC, 4JJD, 4TWP, 4WA9, 4XEY, 4YC8, 5DC9, 5DC4, 5DC0, 2O88, 5HU9
식별자
다른 이름	ABL1, ABL proto-oncogene 1, non-receptor tyrosine kinase, ABL, JTK7, bcr/abl, c-ABL, c-p150, v-abl, CHDSKM, BCR-ABL, Genes, abl
외부 ID	OMIM: 189980 MGI: 87859 HomoloGene: 3783 GeneCards: ABL1
EC 번호	2.7.10.2
유전자 위치 (인간) 염색체 9번 염색체[1] 자리 9q34.12 시작 130,713,016 bp[1] 끝 130,887,675 bp[1]
유전자 위치 (쥐) 염색체 2번 염색체 (쥐)[2] 자리 2 21.86 cM|2 B 시작 31,578,388 bp[2] 끝 31,694,239 bp[2]
RNA 발현 패턴 Bgee 인간 쥐(동원체) 최상위 발현 frontal pole paraflocculus of cerebellum middle frontal gyrus muscle layer of sigmoid colon gastric mucosa stromal cell of endometrium 왼자궁관 ventricular zone body of uterus ganglionic eminence 최상위 발현 외경동맥 속목동맥 Gonadal ridge genital tubercle tail of embryo 수정관 condyle endocardial cushion vestibular membrane of cochlear duct ventricular zone 추가 참조 발현 데이터 BioGPS 추가 참조 발현 데이터
유전자 온톨로지 분자 함수 actin monomer binding protein domain specific binding SH3 domain binding kinase activity protein C-terminus binding signaling receptor binding ATP binding protein kinase activity nicotinate-nucleotide adenylyltransferase activity non-membrane spanning protein tyrosine kinase activity 금속 이온 결합 proline-rich region binding magnesium ion binding transferase activity actin filament binding 단백질 결합 syntaxin binding protein kinase C binding DNA 결합 nucleotide binding manganese ion binding mitogen-activated protein kinase binding protein tyrosine kinase activity four-way junction DNA binding bubble DNA binding phosphotyrosine residue binding transcription coactivator activity neuropilin binding SH2 domain binding ephrin receptor binding supercoiled DNA binding sequence-specific double-stranded DNA binding 세포 성분 세포질 세포액 핵막 세포막 extrinsic component of cytoplasmic side of plasma membrane 미토콘드리아 actin cytoskeleton perinuclear region of cytoplasm 세포골격 세포핵 핵소체 핵질 cell leading edge nuclear body 수상돌기 단백질을 포함한 복합체 soma postsynapse 생물학적 과정 positive regulation of protein phosphorylation B-1 B cell homeostasis regulation of axon extension neuromuscular process controlling balance positive regulation of muscle cell differentiation cellular response to DNA damage stimulus 단백질 인산화 regulation of cell adhesion regulation of microtubule polymerization DNA damage induced protein phosphorylation intrinsic apoptotic signaling pathway in response to DNA damage positive regulation of ERK1 and ERK2 cascade substrate adhesion-dependent cell spreading platelet-derived growth factor receptor-beta signaling pathway positive regulation of actin filament binding B cell receptor signaling pathway 세포자살 negative regulation of endothelial cell apoptotic process cerebellum morphogenesis regulation of actin cytoskeleton reorganization DNA를 주형으로 한 전사의 조절 epidermal growth factor receptor signaling pathway Fc-gamma receptor signaling pathway involved in phagocytosis establishment of protein localization thymus development negative regulation of phospholipase C activity positive regulation of mitotic cell cycle actin filament branching spleen development response to oxidative stress 식작용 positive regulation of peptidyl-tyrosine phosphorylation regulation of response to DNA damage stimulus mitochondrial depolarization positive regulation of Wnt signaling pathway, planar cell polarity pathway platelet-derived growth factor receptor signaling pathway regulation of endocytosis activation of protein kinase C activity regulation of actin cytoskeleton organization 인산화 signal transduction in response to DNA damage positive regulation of oxidoreductase activity positive regulation of release of sequestered calcium ion into cytosol negative regulation of I-kappaB kinase/NF-kappaB signaling regulation of cell motility positive regulation of microtubule binding 세포 접착 regulation of autophagy peptidyl-tyrosine autophosphorylation alpha-beta T cell differentiation regulation of cellular senescence negative regulation of protein serine/threonine kinase activity actin cytoskeleton organization negative regulation of cellular senescence 조골세포 증식의 상향조절 체세포 분열 activated T cell proliferation 세포내이입 negative regulation of cell-cell adhesion B cell proliferation involved in immune response cellular response to dopamine positive regulation of cytosolic calcium ion concentration positive regulation of neuron death regulation of cell cycle negative regulation of BMP signaling pathway 오토파지 B cell proliferation negative regulation of ubiquitin-protein transferase activity microspike assembly positive regulation of apoptotic process regulation of extracellular matrix organization I-kB/NF-kB 신호전달의 상향조절 negative regulation of ERK1 and ERK2 cascade transitional one stage B cell differentiation DNA mismatch repair Bergmann glial cell differentiation peptidyl-tyrosine phosphorylation collateral sprouting cellular response to lipopolysaccharide negative regulation of mitotic cell cycle cellular response to hydrogen peroxide DNA 수선 선천면역 neural tube closure post-embryonic development neuron differentiation cellular response to oxidative stress regulation of cell population proliferation protein autophosphorylation neuroepithelial cell differentiation integrin-mediated signaling pathway positive regulation of endothelial cell migration 세포 분화 regulation of Cdc42 protein signal transduction neuropilin signaling pathway endothelial cell migration regulation of T cell differentiation positive regulation of transcription by RNA polymerase II T cell receptor signaling pathway positive regulation of stress fiber assembly positive regulation of focal adhesion assembly DNA conformation change positive regulation of cell migration involved in sprouting angiogenesis positive regulation of substrate adhesion-dependent cell spreading negative regulation of long-term synaptic potentiation regulation of hematopoietic stem cell differentiation regulation of modification of synaptic structure positive regulation of blood vessel branching positive regulation of actin cytoskeleton reorganization 출처: Amigo / QuickGO
동원체 종 인간 쥐 앙트레 25 11350 앙상블 ENSG00000097007 ENSMUSG00000026842 유니프롯 P00519 P00520 RefSeq (mRNA) NM_007313 NM_005157 NM_001112703 NM_009594 NM_001283045 NM_001283046 NM_001283047 RefSeq(단백질) NP_005148 NP_009297 NP_001106174 NP_001269974 NP_001269975 NP_001269976 NP_033724 위치(UCSC) Chr 9: 130.71 – 130.89 Mb Chr 2: 31.58 – 31.69 Mb PubMed 검색 [3] [4]
위키데이터
인간 보기/편집 쥐 보기/편집