DDR1 (discoidin domain receptor tyrosine kinase 1)

基因基本信息

基因基本信息

symbol:
DDR1
locus group:
protein-coding gene
location:
6p21.33
gene_family:
Receptor Tyrosine Kinases|CD molecules
alias symbol:
RTK6|CD167
alias name:
None
entrez id:
780
ensembl gene id:
ENSG00000204580
ucsc gene id:
uc011faa.3
refseq accession:
NM_013994
hgnc_id:
HGNC:2730
approved reserved:
1994-08-29

基因染色体位置

基因染色体位置

6p21.33
基因染色体位置图

基因简述

基因简述

DDR1（Discoidin Domain Receptor 1）是一种跨膜受体酪氨酸激酶，属于DDR基因家族，该家族还包括DDR2。DDR家族的特点是含有独特的盘状蛋白结构域（discoidin domain），能够识别并结合细胞外基质中的胶原蛋白，尤其是I型、II型、III型和IV型胶原。DDR1主要在上皮细胞、平滑肌细胞和某些免疫细胞中表达，参与细胞黏附、迁移、增殖和分化等过程。DDR1通过胶原激活后发生自磷酸化，触发下游信号通路（如MAPK、PI3K/AKT和JNK），调控组织发育、伤口修复和炎症反应。DDR1的突变或异常表达与多种疾病相关，例如功能丧失性突变可能导致肾脏发育异常（如先天性肾病综合征），而过表达则与纤维化疾病（如肺纤维化、肝纤维化）、动脉粥样硬化和肿瘤进展（如乳腺癌、胶质瘤）密切相关。在肿瘤中，DDR1的高表达可能促进侵袭和转移，而敲低DDR1可抑制肿瘤细胞迁移并增强化疗敏感性。此外，DDR1在免疫调节中发挥作用，其过表达可能加剧炎症性肠病或类风湿性关节炎的病理过程。DDR家族成员的共性是依赖胶原激活而非生长因子，且信号传导速度较慢但持续时间长。研究DDR1的调控机制可能为纤维化疾病和癌症治疗提供新靶点。

Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]

受体酪氨酸激酶发挥与它们的微环境的细胞的通信的关键作用。这些激酶参与细胞生长，分化和代谢的调节。由该基因编码的蛋白质属于酪氨酸激酶受体的同源性在它们的胞外结构域的亚家族到粘菌蛋白质盘基蛋白Ⅰ，和由各种类型的胶原蛋白激活。这种蛋白质的表达仅限于上皮细胞，尤其是在肾，肺，胃肠道，和脑。此外，已显示在多种人类肿瘤中被显著过表达。编码不同同种型的可变剪接转录物变体已被用于这个基因说明。 [由RefSeq的，2011年2月提供]

OMIM数据库中对DDR1基因的介绍     Wikipedia数据库中对DDR1基因的介绍

基因序列

基因序列

DDR1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

DDR1基因的碱基突变：           仅显示部分snp
rs8408       rs8408       rs8408       rs8408       rs8408       rs885910       rs885910       rs885910       rs885910       rs885910       rs886422       rs886422       rs886422       rs886422       rs886422       rs1049621       rs1049621      

基因表达

基因表达

DDR1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
CTCATCATTGCCCTCATGC
59
CTCCTCTTCCAACACCCTC
59
AATGGCTCTGCCTACAGTG
60
CTGCAGGGTAACAATGTCAG
59
TCATCATTGCCCTCATGCT
60
CTCTAGGACCTTGCTGAGG
59
GTCAGGAGGTGATCTCAGG
59
CAGCCATAGAGCTCTACCC
59
TCTACAACGACTGCACCTG
60
CCTGAGATCACCTCCTGAC
59
AGATGCTGACATGAAGGGAC
60
GTCACTGTCTGGGATGGTC
60
TGAGAGGAGAAGGAGAAGAG
58
CACAGAGGAAGAAGCAGGT
59
ACCTCAACCAGTTCCTCAG
59
CATTGGGTAGCTGATGGTG
58
AGGAATGCCAAGAGATGCT
59
TAAAGATGACAGGGCCTCTG
59
GATCTCAGGCAATGAGGAC
58
TAAGACAGGAGTCCATCCC
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

DDR1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

DDR1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004714
A0A0A0MSX3 (UniProtKB)
IEA
GO:0005524
A0A0A0MSX3 (UniProtKB)
IEA
GO:0007169
A0A0A0MSX3 (UniProtKB)
IEA
GO:0016021
A0A0A0MSX3 (UniProtKB)
IEA
GO:0018108
A0A0A0MSX3 (UniProtKB)
IEA
GO:0018108
A0A0A0MSX3 (UniProtKB)
IEA
GO:0004714
A0A0G2JI85 (UniProtKB)
IEA
GO:0005524
A0A0G2JI85 (UniProtKB)
IEA
GO:0007169
A0A0G2JI85 (UniProtKB)
IEA
GO:0016020
A0A0G2JI85 (UniProtKB)
IEA
GO:0018108
A0A0G2JI85 (UniProtKB)
IEA
GO:0018108
A0A0G2JI85 (UniProtKB)
IEA
GO:0004714
A0A0G2JNZ7 (UniProtKB)
IEA
GO:0005524
A0A0G2JNZ7 (UniProtKB)
IEA
GO:0007169
A0A0G2JNZ7 (UniProtKB)
IEA
GO:0016021
A0A0G2JNZ7 (UniProtKB)
IEA
GO:0018108
A0A0G2JNZ7 (UniProtKB)
IEA
GO:0018108
A0A0G2JNZ7 (UniProtKB)
IEA
GO:0004672
A0A140T972 (UniProtKB)
IEA
GO:0005524
A0A140T972 (UniProtKB)
IEA
GO:0006468
A0A140T972 (UniProtKB)
IEA
GO:0004672
A2ABM8 (UniProtKB)
IEA
GO:0005524
A2ABM8 (UniProtKB)
IEA
GO:0006468
A2ABM8 (UniProtKB)
IEA
GO:0016021
A2ABM8 (UniProtKB)
IEA
GO:0004714
H0Y9F4 (UniProtKB)
IEA
GO:0005524
H0Y9F4 (UniProtKB)
IEA
GO:0007169
H0Y9F4 (UniProtKB)
IEA
GO:0016020
H0Y9F4 (UniProtKB)
IEA
GO:0018108
H0Y9F4 (UniProtKB)
IEA
GO:0018108
H0Y9F4 (UniProtKB)
IEA
GO:0004672
H0YAH6 (UniProtKB)
IEA
GO:0005524
H0YAH6 (UniProtKB)
IEA
GO:0006468
H0YAH6 (UniProtKB)
IEA
GO:0001558
Q08345 (UniProtKB)
IEA
GO:0001952
Q08345 (UniProtKB)
IEA
GO:0004714
Q08345 (UniProtKB)
TAS
GO:0005515
Q08345 (UniProtKB)
IPI
GO:0005515
Q08345 (UniProtKB)
IPI
GO:0005515
Q08345 (UniProtKB)
IPI
GO:0005518
Q08345 (UniProtKB)
IMP
GO:0005518
Q08345 (UniProtKB)
IDA
GO:0005524
Q08345 (UniProtKB)
IEA
GO:0005615
Q08345 (UniProtKB)
IDA
GO:0005886
Q08345 (UniProtKB)
TAS
GO:0005887
Q08345 (UniProtKB)
IEA
GO:0007155
Q08345 (UniProtKB)
TAS
GO:0007566
Q08345 (UniProtKB)
IEA
GO:0007595
Q08345 (UniProtKB)
IEA
GO:0008285
Q08345 (UniProtKB)
IEA
GO:0010715
Q08345 (UniProtKB)
IMP
GO:0014909
Q08345 (UniProtKB)
IMP
GO:0016323
Q08345 (UniProtKB)
IEA
GO:0030198
Q08345 (UniProtKB)
TAS
GO:0031100
Q08345 (UniProtKB)
IEA
GO:0038062
Q08345 (UniProtKB)
IDA
GO:0038062
Q08345 (UniProtKB)
IDA
GO:0038063
Q08345 (UniProtKB)
IMP
GO:0038063
Q08345 (UniProtKB)
IDA
GO:0038063
Q08345 (UniProtKB)
IDA
GO:0038083
Q08345 (UniProtKB)
IDA
GO:0043235
Q08345 (UniProtKB)
IDA
GO:0043583
Q08345 (UniProtKB)
IEA
GO:0043588
Q08345 (UniProtKB)
IEA
GO:0044319
Q08345 (UniProtKB)
IMP
GO:0046777
Q08345 (UniProtKB)
IDA
GO:0046872
Q08345 (UniProtKB)
IEA
GO:0060444
Q08345 (UniProtKB)
IEA
GO:0060749
Q08345 (UniProtKB)
IEA
GO:0061302
Q08345 (UniProtKB)
IMP
GO:0070062
Q08345 (UniProtKB)
IDA
GO:0070062
Q08345 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 DDR1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
Prostatic Neoplasms 0.12272435 2 0 CTD_human_LHGDN
Adenocarcinoma 0.120271442 2 0 BeFree_CTD_human
Lung Neoplasms 0.120271442 2 0 BeFree_CTD_human
Mammary Neoplasms, Experimental 0.12 1 0 CTD_human
Heart failure 0.080271442 2 0 BeFree_RGD
Schizophrenia 0.005634266 2 0 BeFree_GAD_LHGDN
Vitiligo 0.005005506 2 0 BeFree_GAD
Mammary Neoplasms 0.003267234 3 0 BeFree_LHGDN
Leukemia, Myelocytic, Acute 0.003181358 4 0 BeFree_GAD
Lung diseases 0.002995792 1 0 BeFree_LHGDN

基因相关服务

基因相关服务

联系方式

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