ABL1 (ABL proto-oncogene 1, non-receptor tyrosine kinase)

基因基本信息

基因基本信息

symbol:
ABL1
locus group:
protein-coding gene
location:
9q34.12
gene_family:
SH2 domain containing
alias symbol:
JTK7|c-ABL|p150
alias name:
None
entrez id:
25
ensembl gene id:
ENSG00000097007
ucsc gene id:
uc004bzv.4
refseq accession:
NM_007313
hgnc_id:
HGNC:76
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

9q34.12
基因染色体位置图

基因简述

基因简述

ABL1基因（Abelson murine leukemia viral oncogene homolog 1）属于ABL基因家族，该家族还包括ABL2基因，它们共同编码非受体型酪氨酸激酶，参与细胞增殖、分化、粘附和应激反应的调控。ABL1基因位于人类9号染色体（9q34.12），其编码的ABL1蛋白在细胞信号传导中起核心作用，尤其在细胞骨架重组、DNA损伤修复和细胞凋亡过程中发挥关键功能。ABL1蛋白的激酶活性受其N端肉豆蔻酰化修饰和C端结构域的调控，正常情况下处于自抑制状态。当ABL1基因发生突变或染色体易位（如与BCR基因融合形成费城染色体，即t(9;22)(q34;q11)），会导致激酶活性异常激活，进而引发慢性髓性白血病（CML）和部分急性淋巴细胞白血病（ALL）。ABL1基因的常见突变包括点突变（如T315I）和缺失突变，这些突变可能导致对靶向药物（如伊马替尼）的耐药性。ABL1过表达会促进细胞增殖和抑制凋亡，与多种癌症的发生发展相关；而ABL1表达降低则可能影响细胞对DNA损伤的修复能力，增加基因组不稳定性。ABL1基因还与神经系统发育和功能有关，其异常表达可能影响神经元迁移和突触可塑性。ABL基因家族的共性包括编码具有SH2和SH3结构域的酪氨酸激酶，参与细胞信号转导网络的调控，并在发育和疾病中发挥多重作用。针对ABL1异常活化的靶向治疗已成为白血病治疗的重要策略，但耐药突变仍是临床挑战。

This gene is a protooncogene that encodes a protein tyrosine kinase involved in a variety of cellular processes, including cell division, adhesion, differentiation, and response to stress. The activity of the protein is negatively regulated by its SH3 domain, whereby deletion of the region encoding this domain results in an oncogene. The ubiquitously expressed protein has DNA-binding activity that is regulated by CDC2-mediated phosphorylation, suggesting a cell cycle function. This gene has been found fused to a variety of translocation partner genes in various leukemias, most notably the t(9;22) translocation that results in a fusion with the 5' end of the breakpoint cluster region gene (BCR; MIM:151410). Alternative splicing of this gene results in two transcript variants, which contain alternative first exons that are spliced to the remaining common exons. [provided by RefSeq, Aug 2014]

这个基因是编码参与多种细胞过程，包括细胞分裂，粘着，分化，和响应于压力的蛋白酪氨酸激酶一个原癌基因。的蛋白质的活性被负由其SH3结构域，由此缺失编码区中的癌基因本领域的结果调节。在普遍表达的蛋白质具有由CDC2介导的磷酸化调节的，这表明细胞周期功能的DNA结合活性。该基因已经发现融合于各种易位伴侣基因的各种白血病，最显着的T（9; 22），其导致与BCR基因基因的5‘端融合易位（BCR; MIM：151410） 。该基因导致两个转录变异体，其包含被接合到剩余的共同的外显子的替代第一外显子的选择性剪接。 [由RefSeq的，2014年8月提供]

OMIM数据库中对ABL1基因的介绍     Wikipedia数据库中对ABL1基因的介绍

基因序列

基因序列

ABL1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

ABL1基因的碱基突变：           仅显示部分snp
rs7457       rs9762       rs10753       rs11991       rs913721       rs946486       rs1056169       rs1056171       rs1056174       rs1056209       rs1064152       rs1064153       rs1064156       rs1064157       rs1064158       rs1064159       rs1064161      

基因表达

基因表达

ABL1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
TCTGGAAGAAGCCCTTCAG
59
TTCCTTGGAGTTCCAACGA
59
AGAAGGAATCATCGAGGCA
59
AAGTCAGATGCTACTGGCC
60
GGAACATGAAGCCCTTCAG
59
TTTCCTTGGAGTTCCAACG
58
CCATCAAATGGACTGCACC
59
GCAATACTCCAAATGCCCAG
60
CCATCAAATGGACTGCACC
59
GCAATACTCCAAATGCCCA
59
GGAACATGAAGCCCTTCAG
59
TTCCTTGGAGTTCCAACGA
59
AGGAATCATCGAGGCATGG
60
CAAAGTCAGATGCTACTGGC
59
ATCTGGAAGAAGCCCTTCAG
60
TCCTTGGAGTTCCAACGAG
59
CCCATCAAATGGACTGCAC
59
CAATACTCCAAATGCCCAGAC
59
GGAACATGAAGCCCTTCAG
59
TCCTTGGAGTTCCAACGAG
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
ABL1
BAX
Activation
11753601
ABL1
BCL2
Repression
11753601
ABL1
BCL6
Repression
15509806
ABL1
CCND2
Activation
15509806
ABL1
CDKN1A
Activation
11753601; 9916993
ABL1
CSF1
Activation
23418320
ABL1
CSF1
Unknown
18619508
ABL1
FOXO3
Activation
15509806
ABL1
JUN
Activation
15145216
ABL1
JUN
Repression
19357699

基因本体信息

ABL1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

ABL1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000287
P00519 (UniProtKB)
IDA
GO:0001922
P00519 (UniProtKB)
IEA
GO:0001934
P00519 (UniProtKB)
IMP
GO:0002322
P00519 (UniProtKB)
IEA
GO:0002333
P00519 (UniProtKB)
IEA
GO:0003677
P00519 (UniProtKB)
NAS
GO:0003785
P00519 (UniProtKB)
TAS
GO:0004515
P00519 (UniProtKB)
TAS
GO:0004672
P00519 (UniProtKB)
IDA
GO:0004713
P00519 (UniProtKB)
IDA
GO:0004713
P00519 (UniProtKB)
IDA
GO:0004713
P00519 (UniProtKB)
IDA
GO:0004713
P00519 (UniProtKB)
EXP
GO:0004713
P00519 (UniProtKB)
IDA
GO:0004713
P00519 (UniProtKB)
IDA
GO:0004713
P00519 (UniProtKB)
IMP
GO:0004713
P00519 (UniProtKB)
IDA
GO:0004713
P00519 (UniProtKB)
IDA
GO:0004713
P00519 (UniProtKB)
TAS
GO:0004713
P00519 (UniProtKB)
TAS
GO:0004715
P00519 (UniProtKB)
IDA
GO:0005080
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005515
P00519 (UniProtKB)
IPI
GO:0005524
P00519 (UniProtKB)
IDA
GO:0005634
P00519 (UniProtKB)
IDA
GO:0005634
P00519 (UniProtKB)
IDA
GO:0005634
P00519 (UniProtKB)
TAS
GO:0005634
P00519 (UniProtKB)
NAS
GO:0005654
P00519 (UniProtKB)
IDA
GO:0005654
P00519 (UniProtKB)
TAS
GO:0005654
P00519 (UniProtKB)
TAS
GO:0005730
P00519 (UniProtKB)
IDA
GO:0005730
P00519 (UniProtKB)
IDA
GO:0005737
P00519 (UniProtKB)
TAS
GO:0005739
P00519 (UniProtKB)
NAS
GO:0005829
P00519 (UniProtKB)
IDA
GO:0005829
P00519 (UniProtKB)
TAS
GO:0005829
P00519 (UniProtKB)
TAS
GO:0005829
P00519 (UniProtKB)
TAS
GO:0005829
P00519 (UniProtKB)
TAS
GO:0006298
P00519 (UniProtKB)
TAS
GO:0006355
P00519 (UniProtKB)
TAS
GO:0006464
P00519 (UniProtKB)
NAS
GO:0006914
P00519 (UniProtKB)
IEA
GO:0006974
P00519 (UniProtKB)
IDA
GO:0006975
P00519 (UniProtKB)
IDA
GO:0006979
P00519 (UniProtKB)
IGI
GO:0007050
P00519 (UniProtKB)
TAS
GO:0007067
P00519 (UniProtKB)
TAS
GO:0007173
P00519 (UniProtKB)
IEA
GO:0007204
P00519 (UniProtKB)
IMP
GO:0008022
P00519 (UniProtKB)
IPI
GO:0008630
P00519 (UniProtKB)
TAS
GO:0010506
P00519 (UniProtKB)
TAS
GO:0015629
P00519 (UniProtKB)
TAS
GO:0017124
P00519 (UniProtKB)
IPI
GO:0018108
P00519 (UniProtKB)
IDA
GO:0018108
P00519 (UniProtKB)
IDA
GO:0018108
P00519 (UniProtKB)
TAS
GO:0018108
P00519 (UniProtKB)
IMP
GO:0018108
P00519 (UniProtKB)
TAS
GO:0018108
P00519 (UniProtKB)
IDA
GO:0018108
P00519 (UniProtKB)
IDA
GO:0019905
P00519 (UniProtKB)
IPI
GO:0021587
P00519 (UniProtKB)
IEA
GO:0022408
P00519 (UniProtKB)
IEA
GO:0030035
P00519 (UniProtKB)
IEA
GO:0030036
P00519 (UniProtKB)
ISS
GO:0030100
P00519 (UniProtKB)
TAS
GO:0030145
P00519 (UniProtKB)
IDA
GO:0030155
P00519 (UniProtKB)
TAS
GO:0030514
P00519 (UniProtKB)
IEA
GO:0030516
P00519 (UniProtKB)
IMP
GO:0031113
P00519 (UniProtKB)
IMP
GO:0031234
P00519 (UniProtKB)
IBA
GO:0031252
P00519 (UniProtKB)
IEA
GO:0031965
P00519 (UniProtKB)
IEA
GO:0032956
P00519 (UniProtKB)
IMP
GO:0033690
P00519 (UniProtKB)
IEA
GO:0034446
P00519 (UniProtKB)
IEA
GO:0034599
P00519 (UniProtKB)
TAS
GO:0035791
P00519 (UniProtKB)
IMP
GO:0038083
P00519 (UniProtKB)
IDA
GO:0038083
P00519 (UniProtKB)
IMP
GO:0038096
P00519 (UniProtKB)
TAS
GO:0042127
P00519 (UniProtKB)
IBA
GO:0042770
P00519 (UniProtKB)
IDA
GO:0042770
P00519 (UniProtKB)
IDA
GO:0043065
P00519 (UniProtKB)
IDA
GO:0043065
P00519 (UniProtKB)
IDA
GO:0043123
P00519 (UniProtKB)
IEA
GO:0043124
P00519 (UniProtKB)
IEA
GO:0045087
P00519 (UniProtKB)
IBA
GO:0045184
P00519 (UniProtKB)
IMP
GO:0045930
P00519 (UniProtKB)
IEA
GO:0045931
P00519 (UniProtKB)
IEA
GO:0046632
P00519 (UniProtKB)
IEA
GO:0046777
P00519 (UniProtKB)
IDA
GO:0048471
P00519 (UniProtKB)
IDA
GO:0048536
P00519 (UniProtKB)
IEA
GO:0048538
P00519 (UniProtKB)
IEA
GO:0048668
P00519 (UniProtKB)
IEA
GO:0050731
P00519 (UniProtKB)
IDA
GO:0050798
P00519 (UniProtKB)
IEA
GO:0050853
P00519 (UniProtKB)
IEA
GO:0050885
P00519 (UniProtKB)
IEA
GO:0051015
P00519 (UniProtKB)
IEA
GO:0051019
P00519 (UniProtKB)
IPI
GO:0051149
P00519 (UniProtKB)
TAS
GO:0051281
P00519 (UniProtKB)
IEA
GO:0051353
P00519 (UniProtKB)
IDA
GO:0051444
P00519 (UniProtKB)
IDA
GO:0051444
P00519 (UniProtKB)
TAS
GO:0051444
P00519 (UniProtKB)
TAS
GO:0051882
P00519 (UniProtKB)
TAS
GO:0060020
P00519 (UniProtKB)
IEA
GO:0070064
P00519 (UniProtKB)
IDA
GO:0070064
P00519 (UniProtKB)
IPI
GO:0070301
P00519 (UniProtKB)
IDA
GO:0070373
P00519 (UniProtKB)
IEA
GO:0070374
P00519 (UniProtKB)
IEA
GO:0071222
P00519 (UniProtKB)
IEA
GO:0071901
P00519 (UniProtKB)
IDA
GO:0090135
P00519 (UniProtKB)
IEA
GO:1900042
P00519 (UniProtKB)
IEA
GO:1900275
P00519 (UniProtKB)
IMP
GO:1901216
P00519 (UniProtKB)
IEA
GO:1902715
P00519 (UniProtKB)
IEA
GO:1903053
P00519 (UniProtKB)
IEA
GO:1903351
P00519 (UniProtKB)
TAS
GO:1904528
P00519 (UniProtKB)
IMP
GO:1904531
P00519 (UniProtKB)
IMP
GO:1990051
P00519 (UniProtKB)
IDA
GO:2000096
P00519 (UniProtKB)
IEA
GO:2000145
P00519 (UniProtKB)
TAS
GO:2000249
P00519 (UniProtKB)
TAS
GO:2000352
P00519 (UniProtKB)
IEA
GO:2000773
P00519 (UniProtKB)
IEA
GO:2001020
P00519 (UniProtKB)
IDA
GO:0005102
P00519 (UniProtKB)
IBA
GO:0004713
R4GRW0 (UniProtKB)
IEA
GO:0018108
R4GRW0 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 ABL1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Myeloid Leukemia, Chronic 0.371405336 1406 7 BeFree_CTD_human_GAD_LHGDN_ORPHANET
Precursor Cell Lymphoblastic Leukemia Lymphoma 0.184119871 183 1 BeFree_CTD_human_LHGDN
Mammary Neoplasms 0.122995792 3 0 BeFree_CTD_human_LHGDN
Carcinogenesis 0.121900093 7 0 BeFree_CTD_human
Precancerous Conditions 0.120271442 2 0 BeFree_CTD_human
Esophageal Neoplasms 0.120271442 2 0 BeFree_CTD_human
Liver neoplasms 0.12 1 0 CTD_human
Neoplasms, Experimental 0.12 1 0 CTD_human
Adenocarcinoma 0.12 1 0 CTD_human
LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 3 0.12 0 0 ORPHANET

基因相关服务

基因相关服务

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