COL1A1基因详情-基因数据库-基因云馆

COL1A1 (collagen type I alpha 1 chain)

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

17q21.33

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。

中文English

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

COL1A1基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MFSFVDLRLL LLLAATALLT HGQEEGQVEG QDEDIPPITC
41VQNGLRYHDR DVWKPEPCRI CVCDNGKVLC DDVICDETKN
81
CPGAEVPEG ECCPVCPDGS ESPTDQETTG VEGPKGDTGP
121RGPRGPAGPP GRDGIPGQPG LPGPPGPPGP PGPPGLGGNF
161A
PQLSYGYD EKSTGGISVP GPMGPSGPRG LPGPPGAPGP
201QGFQGPPGEP GEPGASGPMG PRGPPGPPGK NGDDGEAGKP
241GR
PGERGPP GPQGARGLPG TAGLPGMKGH RGFSGLDGAK
281GDAGPAGPKG EPGSPGENGA PGQMGPRGLP GERGRPGAPG
321PAG
ARGNDG ATGAAGPPGP TGPAGPPGFP GAVGAKGEAG
361PQGPRGSEGP QGVRGEPGPP GPAGAAGPAG NPGADGQPGA
401KGAN
GAPGI AGAPGFPGAR GPSGPQGPGG PPGPKGNSGE
441PGAPGSKGDT GAKGEPGPVG VQGPPGPAGE EGKRGARGEP
481GPTGL
PGPP GERGGPGSRG FPGADGVAGP KGPAGERGSP
521GPAGPKGSPG EAGRPGEAGL PGAKGLTGSP GSPGPDGKTG
561PPGPAG
QDG RPGPPGPPGA RGQAGVMGFP GPKGAAGEPG
601KAGERGVPGP PGAVGPAGKD GEAGAQGPPG PAGPAGERGE
641QGPAGSP
GF QGLPGPAGPP GEAGKPGEQG VPGDLGAPGP
681SGARGERGFP GERGVQGPPG PAGPRGANGA PGNDGAKGDA
721GAPGAPGS
Q GAPGLQGMPG ERGAAGLPGP KGDRGDAGPK
761GADGSPGKDG VRGLTGPIGP PGPAGAPGDK GESGPSGPAG
801PTGARGAPG
 DRGEPGPPGP AGFAGPPGAD GQPGAKGEPG
841DAGAKGDAGP PGPAGPAGPP GPIGNVGAPG AKGARGSAGP
881PGATGFPGAA 
GRVGPPGPS GNAGPPGPPG PAGKEGGKGP
921RGETGPAGRP GEVGPPGPPG PAGEKGSPGA DGPAGAPGTP
961GPQGIAGQRG V
VGLPGQRG ERGFPGLPGP SGEPGKQGPS
1001GASGERGPPG PMGPPGLAGP PGESGREGAP GAEGSPGRDG
1041SPGAKGDRGE TG
PAGPPGA PGAPGAPGPV GPAGKSGDRG
1081ETGPAGPTGP VGPVGARGPA GPQGPRGDKG ETGEQGDRGI
1121KGHRGFSGLQ GPP
GPPGSP GEQGPSGASG PAGPRGPPGS
1161AGAPGKDGLN GLPGPIGPPG PRGRTGDAGP VGPPGPPGPP
1201GPPGPPSAGF DFSF
LPQPP QEKAHDGGRY YRADDANVVR
1241DRDLEVDTTL KSLSQQIENI RSPEGSRKNP ARTCRDLKMC
1281HSDWKSGEYW IDPNQ
GCNL DAIKVFCNME TGETCVYPTQ
1321PSVAQKNWYI SKNPKDKRHV WFGESMTDGF QFEYGGQGSD
1361PADVAIQLTF LRLMST
EAS QNITYHCKNS VAYMDQQTGN
1401LKKALLLQGS NEIEIRAEGN SRFTYSVTVD GCTSHTGAWG
1441KTVIEYKTTK TSRLPII
DV APLDVGAPDQ EFGFDVGPVC
1481FL

结构预测来自 AlphaFold DB（UniProt: P02452），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

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

COL1A1基因在不同组织中的表达： [UniProt]

正向引物序列

正向Tm值

反向引物序列

反向Tm值

评分

CTCTTGGTTTGGTTGTCAGG

ATCATTTCCACGAGCACCA

CTTGGTTTGGTTGTCAGGG

CCATCATTTCCACGAGCAC

TACAGATGCAGACAGTGCC

GAAAGGGACAAACTGTCAGG

CTGTAATCCCAGCACTTTGG

GTCTCAAACTCCTGACCTC

AAAGATGGAGAGGCTGGAG

ATCACCCTTAGCACCATCG

AAGTGTGCCTCTTAGACCC

GTCAGTAGTGACTGCAACC

TCATGCTTTCCTTGCTCTC

ACCCTTTATGCCTCTGTCG

GATAAATCTTGGTCCATAGTTTGGG

CTTCCTCCTAGGGATGTGTC

GTGACAAGGGTGAAAGTGG

CTTAACAGGTCTTCTGTACTTACG

GTTCAGCTTTGTGGACCTC

ATTGGTGGGATGTCTTCGT

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

COL1A1基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

可能调控 COL1A1基因的相关microRNA：

hsa-miR-124 hsa-miR-133a hsa-miR-29b hsa-miR-29c hsa-let-7a hsa-let-7b hsa-let-7b* hsa-let-7c hsa-let-7c* hsa-let-7d

String

BioGrid

IntAct

mentha

MINT

Reactome

加载中…

关联基因	作用方式	资源库来源/分值

KEGG
Reactomepathway

名称
4151 PI3K-Akt signaling pathway [PATH:hsa04151]
4512 ECM-receptor interaction [PATH:hsa04512]
4510 Focal adhesion [PATH:hsa04510]
4611 Platelet activation [PATH:hsa04611]
4974 Protein digestion and absorption [PATH:hsa04974]
5146 Amoebiasis [PATH:hsa05146]

名称
Assembly of collagen fibrils and other multimeric structures
Binding and Uptake of Ligands by Scavenger Receptors
Collagen biosynthesis and modifying enzymes
Collagen formation
Extracellular matrix organization
Scavenging by Class A Receptors
Vesicle-mediated transport

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

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COL1A1 (collagen type I alpha 1 chain)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

基因相关文献

基因相关服务

基因相关服务

基因相关评论

基因相关评论

联系地址

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