CBL (Cbl proto-oncogene)

基因基本信息

基因基本信息

symbol:
CBL
locus group:
protein-coding gene
location:
11q23.3
gene_family:
Ring finger proteins
alias symbol:
RNF55|c-Cbl
alias name:
oncogene CBL2
entrez id:
867
ensembl gene id:
ENSG00000110395
ucsc gene id:
uc001pwe.6
refseq accession:
NM_005188
hgnc_id:
HGNC:1541
approved reserved:
1989-06-30

基因染色体位置

基因染色体位置

11q23.3
基因染色体位置图

基因简述

基因简述

CBL基因（Casitas B-lineage lymphoma proto-oncogene）属于CBL基因家族，该家族包括CBL、CBLB和CBLC三个成员，它们编码的蛋白质具有E3泛素连接酶活性，主要通过泛素化修饰（一种给蛋白质贴标签使其被降解的过程）调控细胞信号传导。CBL蛋白的主要功能是负向调节受体酪氨酸激酶（RTKs）和整合素等信号通路，通过标记这些受体使其被蛋白酶体降解，从而控制细胞生长、分化和迁移。CBL的作用位点集中在细胞膜和胞质内，与多种信号分子如EGFR、PDGFR等相互作用。当CBL发生功能丧失性突变时，会导致其泛素化功能缺陷，使得下游信号通路（如RAS-MAPK、PI3K-AKT）持续激活，促进细胞异常增殖，这与多种癌症（如白血病、肺癌）的发生相关。相反，CBL的过表达可能过度抑制生长信号，导致细胞功能异常。CBL基因家族成员的共性是含有高度保守的酪氨酸激酶结合域（TKB域）和RING指结构域（负责泛素连接酶活性），它们通过相似机制调控信号蛋白的稳定性。在免疫系统中，CBLB还参与T细胞耐受的调节，其缺失会导致自身免疫疾病。CBL的突变或表达异常也与努南综合征（Noonan syndrome）等发育障碍相关。此外，CBL的表达水平变化可能影响其他基因（如SRC、SYK）的活性，形成复杂的调控网络。在临床研究中，针对CBL突变肿瘤的靶向治疗（如蛋白酶体抑制剂）正在探索中。

This gene is a proto-oncogene that encodes a RING finger E3 ubiquitin ligase. The encoded protein is one of the enzymes required for targeting substrates for degradation by the proteasome. This protein mediates the transfer of ubiquitin from ubiquitin conjugating enzymes (E2) to specific substrates. This protein also contains an N-terminal phosphotyrosine binding domain that allows it to interact with numerous tyrosine-phosphorylated substrates and target them for proteasome degradation. As such it functions as a negative regulator of many signal transduction pathways. This gene has been found to be mutated or translocated in many cancers including acute myeloid leukaemia. Mutations in this gene are also the cause of Noonan syndrome-like disorder. [provided by RefSeq, Mar 2012]

该基因是一种原癌基因，其编码一个RING指的E3泛素连接酶。所编码的蛋白质是用于通过蛋白酶靶向底物降解所需的酶之一。该蛋白介导的泛素从泛素结合酶（E2），以特定的底物转移。该蛋白质还包含一个N-末端磷酸酪氨酸结合结构域，允许它与众多的酪氨??酸磷酸化底物相互作用和瞄准他们为蛋白酶体降解。因此，它用作许多信号转导途径的负调节剂。该基因已被发现被突变或在许多癌症中，包括急性髓性白血病易位。在这个基因的突变也努南综合征样病症的起因。 [由RefSeq的，2012年3月提供]

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

基因序列

基因序列

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

基因突变

基因突变

CBL基因的碱基突变：           仅显示部分snp
rs1918       rs11243       rs535162       rs536212       rs566766       rs581202       rs597633       rs653742       rs654206       rs721444       rs1047417       rs1052121       rs1244893       rs1270424       rs1270839       rs1893032       rs1893033      

基因表达

基因表达

CBL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
GAACATTCTCCAGACAATCCC
58
AACAAATAGAAGCCTTCCCTG
58
ACATTCTCCAGACAATCCCTC
59
GAAACAAATAGAAGCCTTCCCT
58
ACATTCTCCAGACAATCCCT
58
GAAACAAATAGAAGCCTTCCCT
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

CBL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

CBL基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0001784
A0A0U1RQX8 (UniProtKB)
IEA
GO:0004842
A0A0U1RQX8 (UniProtKB)
IEA
GO:0004871
A0A0U1RQX8 (UniProtKB)
IEA
GO:0005509
A0A0U1RQX8 (UniProtKB)
IEA
GO:0005634
A0A0U1RQX8 (UniProtKB)
IEA
GO:0007166
A0A0U1RQX8 (UniProtKB)
IEA
GO:0008270
A0A0U1RQX8 (UniProtKB)
IEA
GO:0016567
A0A0U1RQX8 (UniProtKB)
IEA
GO:0023051
A0A0U1RQX8 (UniProtKB)
IEA
GO:0001784
A0A0U1RR39 (UniProtKB)
IEA
GO:0004842
A0A0U1RR39 (UniProtKB)
IEA
GO:0004871
A0A0U1RR39 (UniProtKB)
IEA
GO:0005509
A0A0U1RR39 (UniProtKB)
IEA
GO:0005634
A0A0U1RR39 (UniProtKB)
IEA
GO:0007166
A0A0U1RR39 (UniProtKB)
IEA
GO:0008270
A0A0U1RR39 (UniProtKB)
IEA
GO:0016567
A0A0U1RR39 (UniProtKB)
IEA
GO:0023051
A0A0U1RR39 (UniProtKB)
IEA
GO:0004842
A0A0U1RRJ5 (UniProtKB)
IEA
GO:0016567
A0A0U1RRJ5 (UniProtKB)
IEA
GO:0023051
A0A0U1RRJ5 (UniProtKB)
IEA
GO:0001784
P22681 (UniProtKB)
IEA
GO:0003700
P22681 (UniProtKB)
TAS
GO:0004842
P22681 (UniProtKB)
TAS
GO:0004842
P22681 (UniProtKB)
TAS
GO:0004842
P22681 (UniProtKB)
TAS
GO:0004842
P22681 (UniProtKB)
TAS
GO:0004842
P22681 (UniProtKB)
TAS
GO:0004842
P22681 (UniProtKB)
TAS
GO:0004871
P22681 (UniProtKB)
IEA
GO:0005509
P22681 (UniProtKB)
IEA
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005515
P22681 (UniProtKB)
IPI
GO:0005634
P22681 (UniProtKB)
IEA
GO:0005737
P22681 (UniProtKB)
IDA
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005829
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
IDA
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0005886
P22681 (UniProtKB)
TAS
GO:0006355
P22681 (UniProtKB)
IEA
GO:0007166
P22681 (UniProtKB)
TAS
GO:0007173
P22681 (UniProtKB)
TAS
GO:0007179
P22681 (UniProtKB)
TAS
GO:0008270
P22681 (UniProtKB)
IEA
GO:0008543
P22681 (UniProtKB)
TAS
GO:0008543
P22681 (UniProtKB)
TAS
GO:0008543
P22681 (UniProtKB)
TAS
GO:0008543
P22681 (UniProtKB)
TAS
GO:0014068
P22681 (UniProtKB)
IMP
GO:0016567
P22681 (UniProtKB)
TAS
GO:0016874
P22681 (UniProtKB)
IEA
GO:0017124
P22681 (UniProtKB)
IPI
GO:0019901
P22681 (UniProtKB)
IEA
GO:0042059
P22681 (UniProtKB)
IMP
GO:0042059
P22681 (UniProtKB)
TAS
GO:0042787
P22681 (UniProtKB)
IMP
GO:0043066
P22681 (UniProtKB)
IMP
GO:0045742
P22681 (UniProtKB)
TAS
GO:0046875
P22681 (UniProtKB)
IPI
GO:0048260
P22681 (UniProtKB)
TAS
GO:0048260
P22681 (UniProtKB)
IMP
GO:0061630
P22681 (UniProtKB)
TAS
GO:0061630
P22681 (UniProtKB)
TAS
GO:0016600
P22681 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 CBL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
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA 0.480271442 2 8 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Juvenile Myelomonocytic Leukemia 0.364071628 17 2 BeFree_CLINVAR_CTD_human_ORPHANET
Developmental Disabilities 0.120271442 1 0 BeFree_CTD_human
Cryptorchidism 0.12 1 0 CTD_human
Vasculitis 0.12 1 0 CTD_human
Growth Disorders 0.12 1 0 CTD_human
Leukemia, Myelocytic, Acute 0.011073035 13 1 BeFree_GAD_LHGDN
Leukemia, Myelomonocytic, Chronic 0.003995683 7 0 BeFree_GAD
Preleukemia 0.002909916 3 0 BeFree_GAD
Prostatic Neoplasms 0.00272435 1 0 LHGDN

基因相关服务

基因相关服务

联系方式

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