CEBPA (CCAAT enhancer binding protein alpha)

基因基本信息

基因基本信息

symbol:
CEBPA
locus group:
protein-coding gene
location:
19q13.11
gene_family:
Basic leucine zipper proteins
alias symbol:
C/EBP-alpha
alias name:
None
entrez id:
1050
ensembl gene id:
ENSG00000245848
ucsc gene id:
uc002nun.4
refseq accession:
NM_004364
hgnc_id:
HGNC:1833
approved reserved:
1991-11-27

基因染色体位置

基因染色体位置

19q13.11
基因染色体位置图

基因简述

基因简述

CEBPA（CCAAT/增强子结合蛋白α）是一种重要的转录因子，属于CCAAT/增强子结合蛋白（CEBP）基因家族。该家族共有6个成员（CEBPA至CEBPZ），它们均含有保守的碱性亮氨酸拉链（bZIP）结构域，能够形成同源或异源二聚体并结合DNA的CCAAT盒，从而调控靶基因的表达。CEBP家族成员广泛参与细胞分化、代谢调控、炎症反应和免疫调节等生物学过程。CEBPA主要在肝脏、脂肪组织和骨髓中高表达，对粒细胞分化、糖脂代谢和肝脏功能具有关键作用。它通过调控下游靶基因（如GLUT4、PEPCK等）影响葡萄糖稳态和脂质合成。在造血系统中，CEBPA是髓系祖细胞向粒细胞分化的主要调控因子。CEBPA的突变（如移码突变或错义突变）会导致其功能丧失，与急性髓系白血病（AML）的发生密切相关，尤其是CEBPA双等位基因突变被列为AML的独立亚型。此外，CEBPA表达下调与胰岛素抵抗、非酒精性脂肪肝等代谢性疾病相关。CEBPA过表达可促进粒细胞分化并抑制白血病细胞增殖，但异常高表达也可能干扰正常造血过程。相反，CEBPA表达降低会导致粒细胞分化阻滞、糖异生障碍和脂质堆积。该基因还与其他CEBP家族成员（如CEBPB）存在功能冗余和相互作用，共同维持代谢和分化的平衡。研究CEBPA对理解血液肿瘤、代谢紊乱及相关疾病的机制具有重要意义。

This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. Mutation of this gene is associated with acute myeloid leukemia. The use of alternative in-frame non-AUG (GUG) and AUG start codons results in protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the GUG and the first AUG start codons. [provided by RefSeq, Dec 2013]

此内含子基因编码包含基本的亮氨酸拉链（bZIP蛋白）结构域，并且识别在靶基因的启动子的CCAAT基序的转录因子。在同型二聚体所编码的蛋白质的功能，并与CCAAT /增强子结合蛋白β和γ异二聚体。这种蛋白质的活性可以调节参与细胞周期调控，以及在体重平衡的基因的表达。此基因的突变与急性骨髓性白血病有关。使用替代框内非AUG（GUG）和AUG的开始与不同长度的蛋白异构体密码子的结果。差动翻译起始由一个外的帧，上游开放阅读其位于GUG和第一个AUG起始密码子之间的帧介导的。 [由RefSeq的，2013年12月提供]

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

基因序列

基因序列

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

基因突变

基因突变

CEBPA基因的碱基突变：           仅显示部分snp
rs1049967       rs1049969       rs3745971       rs4142943       rs16967952       rs34508287       rs34529039       rs34665205       rs41367646       rs41428545       rs41434054       rs41480346       rs41490344       rs111826037       rs112479912       rs114693382       rs114719837      

基因表达

基因表达

CEBPA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
AAGAACAGCAACGAGTACC
58
ATTGTCACTGGTCAGCTCC
60
GCTGACCAGTGACAATGAC
59
CCTTGACCAAGGAGCTCTC
60
CTGACCAGTGACAATGACC
58
CCTTGACCAAGGAGCTCTC
60

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）
CEBPA
AFP
Unknown
15924879
CEBPA
ALB
Unknown
10542249
CEBPA
BCL2
Repression
12970736
CEBPA
CCL2
Activation
24429361
CEBPA
CD163
Unknown
10725797
CEBPA
CRMP1
Unknown
18524846
CEBPA
CSF1
Unknown
9632776
CEBPA
CSF2RA
Unknown
7565736
CEBPA
CSF3R
Activation
10453008
CEBPA
CXCR2
Unknown
18555777

基因本体信息

CEBPA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

CEBPA基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000050
P49715 (UniProtKB)
IEA
GO:0000122
P49715 (UniProtKB)
IEA
GO:0000978
P49715 (UniProtKB)
IEA
GO:0001013
P49715 (UniProtKB)
IDA
GO:0001077
P49715 (UniProtKB)
IEA
GO:0001228
P49715 (UniProtKB)
IMP
GO:0001889
P49715 (UniProtKB)
ISS
GO:0001892
P49715 (UniProtKB)
IEA
GO:0003677
P49715 (UniProtKB)
TAS
GO:0003700
P49715 (UniProtKB)
IDA
GO:0003700
P49715 (UniProtKB)
IDA
GO:0003700
P49715 (UniProtKB)
IDA
GO:0003705
P49715 (UniProtKB)
NAS
GO:0003713
P49715 (UniProtKB)
ISS
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005515
P49715 (UniProtKB)
IPI
GO:0005634
P49715 (UniProtKB)
IDA
GO:0005634
P49715 (UniProtKB)
NAS
GO:0005730
P49715 (UniProtKB)
IEA
GO:0005730
P49715 (UniProtKB)
IDA
GO:0006091
P49715 (UniProtKB)
TAS
GO:0006351
P49715 (UniProtKB)
IDA
GO:0006351
P49715 (UniProtKB)
NAS
GO:0006360
P49715 (UniProtKB)
IDA
GO:0006366
P49715 (UniProtKB)
IEA
GO:0007005
P49715 (UniProtKB)
IEA
GO:0007219
P49715 (UniProtKB)
IEA
GO:0008134
P49715 (UniProtKB)
IPI
GO:0008203
P49715 (UniProtKB)
IEA
GO:0008285
P49715 (UniProtKB)
ISS
GO:0008285
P49715 (UniProtKB)
ISS
GO:0008285
P49715 (UniProtKB)
IDA
GO:0016032
P49715 (UniProtKB)
IEA
GO:0019221
P49715 (UniProtKB)
NAS
GO:0019900
P49715 (UniProtKB)
IPI
GO:0019900
P49715 (UniProtKB)
IPI
GO:0030099
P49715 (UniProtKB)
NAS
GO:0030225
P49715 (UniProtKB)
IEA
GO:0030324
P49715 (UniProtKB)
ISS
GO:0030851
P49715 (UniProtKB)
ISS
GO:0032436
P49715 (UniProtKB)
TAS
GO:0042593
P49715 (UniProtKB)
ISS
GO:0042803
P49715 (UniProtKB)
ISS
GO:0044212
P49715 (UniProtKB)
IDA
GO:0045444
P49715 (UniProtKB)
ISS
GO:0045444
P49715 (UniProtKB)
ISS
GO:0045600
P49715 (UniProtKB)
IEA
GO:0045669
P49715 (UniProtKB)
IEA
GO:0045736
P49715 (UniProtKB)
TAS
GO:0045892
P49715 (UniProtKB)
ISS
GO:0045892
P49715 (UniProtKB)
ISS
GO:0045944
P49715 (UniProtKB)
IMP
GO:0045944
P49715 (UniProtKB)
IDA
GO:0045945
P49715 (UniProtKB)
IDA
GO:0048469
P49715 (UniProtKB)
IEA
GO:0048839
P49715 (UniProtKB)
IEA
GO:0050872
P49715 (UniProtKB)
IEA
GO:0050873
P49715 (UniProtKB)
IEA
GO:0055088
P49715 (UniProtKB)
ISS
GO:0071285
P49715 (UniProtKB)
IEA
GO:0071407
P49715 (UniProtKB)
IEA
GO:0090575
P49715 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 CEBPA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

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
Leukemia, Myelocytic, Acute 0.553105144 161 11 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_UNIPROT
Squamous cell carcinoma 0.12272435 3 0 CTD_human_LHGDN
Liver carcinoma 0.122442977 11 0 BeFree_CTD_human
Acute Promyelocytic Leukemia 0.121357209 6 0 BeFree_CTD_human
Neoplasms, Radiation-Induced 0.12 1 0 CTD_human
Head and Neck Neoplasms 0.12 1 0 CTD_human
Precancerous Conditions 0.12 1 0 CTD_human
Female infertility 0.12 1 0 CTD_human
Skin Neoplasms 0.12 1 0 CTD_human
Transient Ischemic Attack 0.08 1 0 RGD

基因相关服务

基因相关服务

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