COL1A1 (collagen type I alpha 1 chain)

基因基本信息

基因基本信息

symbol:
COL1A1
locus group:
protein-coding gene
location:
17q21.33
gene_family:
Collagens
alias symbol:
OI4
alias name:
None
entrez id:
1277
ensembl gene id:
ENSG00000108821
ucsc gene id:
uc002iqm.4
refseq accession:
NM_000088
hgnc_id:
HGNC:2197
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

17q21.33
基因染色体位置图

基因简述

基因简述

COL1A1基因编码胶原蛋白I型α1链，是I型胶原的主要组成部分，属于胶原蛋白基因家族。I型胶原是人体最丰富的胶原类型，主要存在于骨骼、皮肤、肌腱和其他结缔组织中，提供结构支持和机械强度。COL1A1基因突变可导致多种遗传性结缔组织疾病，如成骨不全症（表现为骨骼脆弱易骨折）、埃勒斯-当洛斯综合征（皮肤过度伸展和关节松弛）和马凡综合征（心血管和骨骼异常）。突变通常影响胶原分子的正确折叠或三螺旋结构的稳定性，导致功能异常。COL1A1过表达可能与纤维化疾病（如肝纤维化、肺纤维化）相关，因为过量的胶原沉积会破坏正常组织结构。相反，COL1A1表达降低可能导致骨质疏松或伤口愈合延迟，因为胶原合成不足。该基因属于胶原蛋白家族，其成员共同特点是编码胶原蛋白的α链，形成三螺旋结构，并在细胞外基质中起关键作用。COL1A1与其他胶原基因（如COL1A2、COL3A1）协同工作，共同维持组织的完整性和功能。研究还发现COL1A1与某些癌症（如乳腺癌和卵巢癌）的转移相关，因为肿瘤微环境中胶原的异常重塑可能促进癌细胞侵袭。

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

该基??因编码类型的亲ALPHA1链I型胶原蛋白的三螺旋结构包括两个ALPHA1链和一个α2链。 I型在大多数结缔组织发现原纤维形成的胶原蛋白，并在骨，角膜，真皮和肌腱丰富。在这个基因的突变与成骨不全症类型I-IV，埃勒斯 - 当洛综合征型VIIA，埃勒斯 - 当洛综合征古典型，卡菲病和特发性骨质疏松症。染色体17和22，其中，该基因与该基因对血小板衍生的生长因子β位于之间的相互易位，与称为隆突性皮肤皮肤肿瘤的特定类型，从生长因子的未经调节的表达产生的相关联。两个转录，从使用备用聚腺苷酸化信号的产生，已经确定了该基因。 [由R.达格利什，2008年2月提供]

OMIM数据库中对COL1A1基因的介绍     Wikipedia数据库中对COL1A1基因的介绍

基因序列

基因序列

COL1A1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

COL1A1基因的碱基突变：           仅显示部分snp
rs10144       rs10407       rs867184       rs909102       rs1007085       rs1007086       rs1057297       rs1059454       rs1059475       rs1061237       rs1061947       rs1061970       rs1062135       rs1064882       rs1107946       rs1135348       rs1800012      

基因表达

基因表达

COL1A1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
CTCTTGGTTTGGTTGTCAGG
59
ATCATTTCCACGAGCACCA
60
CTTGGTTTGGTTGTCAGGG
59
CCATCATTTCCACGAGCAC
59
TACAGATGCAGACAGTGCC
60
GAAAGGGACAAACTGTCAGG
59
CTGTAATCCCAGCACTTTGG
59
GTCTCAAACTCCTGACCTC
57
AAAGATGGAGAGGCTGGAG
59
ATCACCCTTAGCACCATCG
60
AAGTGTGCCTCTTAGACCC
59
GTCAGTAGTGACTGCAACC
58
TCATGCTTTCCTTGCTCTC
58
ACCCTTTATGCCTCTGTCG
60
GATAAATCTTGGTCCATAGTTTGGG
60
CTTCCTCCTAGGGATGTGTC
59
GTGACAAGGGTGAAAGTGG
59
CTTAACAGGTCTTCTGTACTTACG
59
GTTCAGCTTTGTGGACCTC
59
ATTGGTGGGATGTCTTCGT
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）
CIITA
COL1A1
Repression
16439692
ETS1
COL1A1
Unknown
16564026
MKL1
COL1A1
Activation
22049076
MYB
COL1A1
Activation
9989795
MYBL2
COL1A1
Unknown
14613485
NFIC
COL1A1
Unknown
10082137; 7504695
NFKB1
COL1A1
Unknown
11277268
RELA
COL1A1
Unknown
11277268
SP1
COL1A1
Unknown
10082137; 10091149; 10775443; 12138160; 16564026; 7504695; 7590335
SP3
COL1A1
Unknown
10082137

基因本体信息

COL1A1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

COL1A1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0001501
P02452 (UniProtKB)
IMP
GO:0001501
P02452 (UniProtKB)
IMP
GO:0001501
P02452 (UniProtKB)
IMP
GO:0001568
P02452 (UniProtKB)
IMP
GO:0001649
P02452 (UniProtKB)
IEA
GO:0001957
P02452 (UniProtKB)
IEA
GO:0001958
P02452 (UniProtKB)
IEA
GO:0005201
P02452 (UniProtKB)
IEA
GO:0005515
P02452 (UniProtKB)
IPI
GO:0005515
P02452 (UniProtKB)
IPI
GO:0005515
P02452 (UniProtKB)
IPI
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005576
P02452 (UniProtKB)
TAS
GO:0005584
P02452 (UniProtKB)
IMP
GO:0005584
P02452 (UniProtKB)
IMP
GO:0005615
P02452 (UniProtKB)
IDA
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005788
P02452 (UniProtKB)
TAS
GO:0005794
P02452 (UniProtKB)
IEA
GO:0007596
P02452 (UniProtKB)
TAS
GO:0007601
P02452 (UniProtKB)
IMP
GO:0007605
P02452 (UniProtKB)
IMP
GO:0010718
P02452 (UniProtKB)
IDA
GO:0010812
P02452 (UniProtKB)
IEA
GO:0015031
P02452 (UniProtKB)
IEA
GO:0030141
P02452 (UniProtKB)
IEA
GO:0030168
P02452 (UniProtKB)
TAS
GO:0030198
P02452 (UniProtKB)
TAS
GO:0030199
P02452 (UniProtKB)
IMP
GO:0030199
P02452 (UniProtKB)
IMP
GO:0030199
P02452 (UniProtKB)
IMP
GO:0030199
P02452 (UniProtKB)
IMP
GO:0030335
P02452 (UniProtKB)
IDA
GO:0030574
P02452 (UniProtKB)
TAS
GO:0031012
P02452 (UniProtKB)
IDA
GO:0031960
P02452 (UniProtKB)
IEA
GO:0032355
P02452 (UniProtKB)
IEA
GO:0032964
P02452 (UniProtKB)
IMP
GO:0034504
P02452 (UniProtKB)
IDA
GO:0034505
P02452 (UniProtKB)
IMP
GO:0042493
P02452 (UniProtKB)
IEA
GO:0042542
P02452 (UniProtKB)
IEA
GO:0042802
P02452 (UniProtKB)
IDA
GO:0043434
P02452 (UniProtKB)
IEA
GO:0043589
P02452 (UniProtKB)
IMP
GO:0044344
P02452 (UniProtKB)
IEA
GO:0044691
P02452 (UniProtKB)
IEA
GO:0045893
P02452 (UniProtKB)
IDA
GO:0046872
P02452 (UniProtKB)
IEA
GO:0048407
P02452 (UniProtKB)
IDA
GO:0048706
P02452 (UniProtKB)
IMP
GO:0050776
P02452 (UniProtKB)
TAS
GO:0050900
P02452 (UniProtKB)
TAS
GO:0051591
P02452 (UniProtKB)
IEA
GO:0055093
P02452 (UniProtKB)
IEA
GO:0060325
P02452 (UniProtKB)
IEA
GO:0060346
P02452 (UniProtKB)
IEA
GO:0060351
P02452 (UniProtKB)
IEA
GO:0070208
P02452 (UniProtKB)
IEA
GO:0071230
P02452 (UniProtKB)
IEA
GO:0071260
P02452 (UniProtKB)
IEA
GO:0071260
P02452 (UniProtKB)
IEA
GO:0071300
P02452 (UniProtKB)
IEA
GO:0071306
P02452 (UniProtKB)
IEA
GO:0071356
P02452 (UniProtKB)
IEA
GO:0071364
P02452 (UniProtKB)
IEA
GO:0071560
P02452 (UniProtKB)
IEA
GO:0090263
P02452 (UniProtKB)
IDA
GO:1902618
P02452 (UniProtKB)
IEA
GO:0031012
P02452 (UniProtKB)
IDA
GO:0031012
P02452 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 COL1A1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
Osteogenesis imperfecta type III (disorder) 0.562442977 22 9 BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Cortical Congenital Hyperostosis 0.484353001 6 1 BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET_UNIPROT
Osteogenesis imperfecta type IV (disorder) 0.481900093 17 3 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Ehlers-Danlos syndrome type 1 0.480271442 2 1 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Lobstein's Disease 0.327871814 40 9 BeFree_CLINVAR_MGD_UNIPROT
Osteogenesis imperfecta, dominant perinatal lethal 0.322171535 36 1 BeFree_CTD_human_MGD_UNIPROT
Osteogenesis Imperfecta 0.315633557 130 29 BeFree_CLINVAR_CTD_human_GAD_LHGDN
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE 0.24 0 0 CTD_human_ORPHANET
Osteoporosis 0.190496532 38 0 BeFree_CTD_human_GAD_LHGDN
Dermatofibrosarcoma Protuberans 0.130857675 40 0 BeFree_ORPHANET

基因相关服务

基因相关服务

联系方式

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