CDH1 (cadherin 1)

基因基本信息

基因基本信息

symbol:
CDH1
locus group:
protein-coding gene
location:
16q22.1
gene_family:
Major cadherins|CD molecules
alias symbol:
uvomorulin|CD324
alias name:
E-Cadherin
entrez id:
999
ensembl gene id:
ENSG00000039068
ucsc gene id:
uc002ewg.2
refseq accession:
NM_004360
hgnc_id:
HGNC:1748
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

16q22.1
基因染色体位置图

基因简述

基因简述

CDH1基因编码E-钙黏蛋白（E-cadherin），这是一种重要的细胞黏附分子，属于钙黏蛋白基因家族（cadherin family）。钙黏蛋白家族的共性是通过钙离子依赖的方式介导细胞间的黏附，对维持组织结构和细胞极性至关重要。E-钙黏蛋白主要在上皮细胞中表达，通过其胞外结构域与相邻细胞的E-钙黏蛋白结合形成黏附连接（adherens junctions），而胞内结构域则与连环蛋白（catenin）结合，连接到细胞骨架（cytoskeleton），从而调控细胞形态、迁移和信号传导。CDH1基因突变会导致E-钙黏蛋白功能丧失，破坏细胞间黏附，增加细胞侵袭性，这与弥漫性胃癌（hereditary diffuse gastric cancer, HDGC）和乳腺小叶癌（lobular breast cancer）的发生密切相关。此外，CDH1的甲基化沉默或表达降低常见于多种上皮性肿瘤（如胃癌、乳腺癌、结直肠癌等），促进肿瘤转移。若CDH1过表达，通常增强细胞间黏附，抑制肿瘤侵袭和转移，但可能影响某些需要细胞迁移的生理过程（如胚胎发育或伤口愈合）。相反，CDH1表达降低会破坏上皮完整性，激活上皮-间质转化（EMT, epithelial-mesenchymal transition），促使癌细胞获得迁移能力。CDH1还与Wnt/β-catenin信号通路交互，其功能异常可能导致β-catenin游离入核，激活促癌基因。该基因的致病突变多为截短突变或错义突变，遗传性突变携带者需定期进行胃癌筛查。

This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008]

这个基因是从钙粘蛋白家族一个经典钙粘蛋白。所编码的蛋白质是由五个细胞外钙粘蛋白重复序列??，一个跨膜区和一个高度保守的胞质尾钙依赖性细胞 - 细胞粘着的糖蛋白。在这种基因突变与胃，乳房，结肠直肠，甲状腺癌和卵巢癌相关。功能丧失被认为通过提高增殖，侵袭和/或转移到向进展的癌症。这种蛋白的胞外域介导细菌粘附到哺乳动物细胞，并且需要用于内化的胞质域。鉴定转录变异体在一致剪接位点突变，从出现。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

CDH1基因的碱基突变：           仅显示部分snp
rs2961       rs13689       rs16260       rs1075384       rs1075959       rs1078621       rs1116485       rs1125557       rs1138533       rs1138534       rs1138535       rs1559366       rs1801023       rs1801025       rs1801026       rs1801552       rs1812452      

基因表达

基因表达

CDH1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
AATCCCACCACGTACAAGG
60
CAGTGTGGTGATTACGACG
59
CCTCAGCCAAGATCCTGAG
60
GGGTATACGTAGGGAAACTCTC
60
AGAGGACCAGGACTTTGAC
59
GACACTCATGAGGGTTGGT
59
AGACTGGGTTATTCCTCCC
58
TTGGATTTGATCTGAACCAGG
58
AACCTGGTTCAGATCAAATCC
58
TTCAGCCATCCTGTTTCTC
58
CAAGATCCTGAGCTCCCTG
60
GGGTATACGTAGGGAAACTCTC
60
GTCAAAGAGCCCTTACTGC
59
AGTCAAAGTCCTGGTCCTC
59
GAGACTGGGTTATTCCTCCC
59
TGGATTTGATCTGAACCAGGT
60
ACCTGGTTCAGATCAAATCC
58
TTCAGCCATCCTGTTTCTC
58
AATCCCACCACGTACAAGG
60
AGTGTGGTGATTACGACGT
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）
AR
CDH1
Repression
18794357
CBX7
CDH1
Activation
19706751
DNMT1
CDH1
Repression
18049164
DNMT1
CDH1
Unknown
21846773
ESR1
CDH1
Unknown
17893710
EZH2
CDH1
Repression
21685935
FOXA2
CDH1
Activation
20160041
FOXF1
CDH1
Unknown
24186199
FOXM1
CDH1
Unknown
21311221
FOXQ1
CDH1
Unknown
23403865

基因本体信息

CDH1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

CDH1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005509
A0A087WU43 (UniProtKB)
IEA
GO:0005886
A0A087WU43 (UniProtKB)
IEA
GO:0007156
A0A087WU43 (UniProtKB)
IEA
GO:0016021
A0A087WU43 (UniProtKB)
IEA
GO:0005509
A0A087WX17 (UniProtKB)
IEA
GO:0005886
A0A087WX17 (UniProtKB)
IEA
GO:0007156
A0A087WX17 (UniProtKB)
IEA
GO:0016021
A0A087WX17 (UniProtKB)
IEA
GO:0005509
A0A087WXI5 (UniProtKB)
IEA
GO:0005886
A0A087WXI5 (UniProtKB)
IEA
GO:0007156
A0A087WXI5 (UniProtKB)
IEA
GO:0016021
A0A087WXI5 (UniProtKB)
IEA
GO:0005509
H3BNC6 (UniProtKB)
IEA
GO:0005886
H3BNC6 (UniProtKB)
IEA
GO:0007156
H3BNC6 (UniProtKB)
IEA
GO:0016021
H3BNC6 (UniProtKB)
IEA
GO:0005509
H3BVI7 (UniProtKB)
IEA
GO:0005886
H3BVI7 (UniProtKB)
IEA
GO:0007156
H3BVI7 (UniProtKB)
IEA
GO:0016021
H3BVI7 (UniProtKB)
IEA
GO:0005509
J3QKP1 (UniProtKB)
IEA
GO:0007156
J3QKP1 (UniProtKB)
IEA
GO:0016020
J3QKP1 (UniProtKB)
IEA
GO:0001948
P12830 (UniProtKB)
IPI
GO:0005509
P12830 (UniProtKB)
IEA
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005515
P12830 (UniProtKB)
IPI
GO:0005576
P12830 (UniProtKB)
TAS
GO:0005576
P12830 (UniProtKB)
TAS
GO:0005737
P12830 (UniProtKB)
IDA
GO:0005768
P12830 (UniProtKB)
IEA
GO:0005802
P12830 (UniProtKB)
IMP
GO:0005886
P12830 (UniProtKB)
IDA
GO:0005886
P12830 (UniProtKB)
TAS
GO:0005886
P12830 (UniProtKB)
TAS
GO:0005886
P12830 (UniProtKB)
TAS
GO:0005886
P12830 (UniProtKB)
TAS
GO:0005886
P12830 (UniProtKB)
TAS
GO:0005886
P12830 (UniProtKB)
TAS
GO:0005886
P12830 (UniProtKB)
TAS
GO:0005886
P12830 (UniProtKB)
TAS
GO:0005913
P12830 (UniProtKB)
IDA
GO:0005913
P12830 (UniProtKB)
IDA
GO:0005913
P12830 (UniProtKB)
IDA
GO:0005925
P12830 (UniProtKB)
IDA
GO:0007156
P12830 (UniProtKB)
NAS
GO:0007156
P12830 (UniProtKB)
NAS
GO:0007416
P12830 (UniProtKB)
IEA
GO:0008013
P12830 (UniProtKB)
IDA
GO:0009636
P12830 (UniProtKB)
IEA
GO:0009898
P12830 (UniProtKB)
IDA
GO:0015629
P12830 (UniProtKB)
IDA
GO:0016021
P12830 (UniProtKB)
IDA
GO:0016235
P12830 (UniProtKB)
IDA
GO:0016328
P12830 (UniProtKB)
IDA
GO:0016328
P12830 (UniProtKB)
IDA
GO:0016337
P12830 (UniProtKB)
IDA
GO:0016337
P12830 (UniProtKB)
IDA
GO:0016342
P12830 (UniProtKB)
IDA
GO:0016600
P12830 (UniProtKB)
IDA
GO:0021983
P12830 (UniProtKB)
IEA
GO:0022408
P12830 (UniProtKB)
IMP
GO:0022617
P12830 (UniProtKB)
TAS
GO:0030027
P12830 (UniProtKB)
IDA
GO:0030054
P12830 (UniProtKB)
TAS
GO:0030054
P12830 (UniProtKB)
IDA
GO:0030198
P12830 (UniProtKB)
TAS
GO:0030506
P12830 (UniProtKB)
IPI
GO:0031175
P12830 (UniProtKB)
IEA
GO:0032794
P12830 (UniProtKB)
IPI
GO:0034332
P12830 (UniProtKB)
IMP
GO:0034332
P12830 (UniProtKB)
TAS
GO:0042493
P12830 (UniProtKB)
IEA
GO:0042993
P12830 (UniProtKB)
IDA
GO:0043296
P12830 (UniProtKB)
IDA
GO:0045295
P12830 (UniProtKB)
IPI
GO:0045893
P12830 (UniProtKB)
IDA
GO:0048471
P12830 (UniProtKB)
IDA
GO:0050839
P12830 (UniProtKB)
NAS
GO:0050839
P12830 (UniProtKB)
IPI
GO:0070062
P12830 (UniProtKB)
IDA
GO:0070062
P12830 (UniProtKB)
IDA
GO:0071285
P12830 (UniProtKB)
IDA
GO:0071681
P12830 (UniProtKB)
IDA
GO:0072659
P12830 (UniProtKB)
IDA
GO:0090002
P12830 (UniProtKB)
IMP
GO:0030864
P12830 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 CDH1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
Hereditary Diffuse Gastric Cancer 0.388501397 107 20 BeFree_CLINVAR_ORPHANET_UNIPROT
Stomach Neoplasms 0.338979861 43 1 BeFree_CLINVAR_CTD_human_GAD_LHGDN
ovarian neoplasm 0.247815732 4 1 CLINVAR_CTD_human_GAD_LHGDN
Bladder Neoplasm 0.210540083 6 0 CTD_human_GAD_LHGDN_RGD
Neoplasm Metastasis 0.176880324 75 0 BeFree_CTD_human_LHGDN
Prostatic Neoplasms 0.172034096 22 0 BeFree_CTD_human_LHGDN
Colorectal Cancer 0.171292716 43 11 BeFree_GAD_GWASCAT
Squamous cell carcinoma 0.168671055 26 0 BeFree_CTD_human_GAD_LHGDN
Colorectal Neoplasms 0.163775169 19 1 BeFree_CTD_human_GAD_LHGDN
Mammary Neoplasms 0.153506529 18 0 BeFree_CTD_human_LHGDN

基因相关服务

基因相关服务

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