COL3A1 (collagen type III alpha 1 chain)

基因基本信息

基因基本信息

symbol:
COL3A1
locus group:
protein-coding gene
location:
2q32.2
gene_family:
Collagens
alias symbol:
None
alias name:
None
entrez id:
1281
ensembl gene id:
ENSG00000168542
ucsc gene id:
uc002uqj.2
refseq accession:
NM_000090
hgnc_id:
HGNC:2201
approved reserved:
2001-06-22

基因染色体位置

基因染色体位置

2q32.2

基因简述

基因简述

COL3A1基因编码III型胶原蛋白的α1链，是细胞外基质的重要组成部分，主要分布于皮肤、血管、内脏等富含结缔组织的部位。它属于胶原蛋白基因家族，该家族成员共同特点是形成三螺旋结构的纤维性蛋白，为组织提供机械支撑和弹性。III型胶原与I型胶原常共分布，但III型更细且更具延展性，在组织发育和修复中起关键作用。COL3A1突变会导致Ehlers-Danlos综合征血管型（EDS IV型），表现为血管脆弱易破裂、皮肤半透明、关节过度活动及内脏穿孔风险增加，因其突变破坏胶原三螺旋稳定性。该基因过表达可能与纤维化疾病相关，如肝纤维化或动脉硬化，因过量III型胶原沉积；而表达降低则导致组织脆弱性增加，影响伤口愈合。COL3A1表达受TGF-β等生长因子调控，并影响其他基质成分如纤连蛋白的表达。在肿瘤中，其表达变化可能促进或抑制转移，取决于微环境背景。家族性动脉瘤患者中也常见该基因变异。诊断上可通过基因检测或皮肤活检观察胶原异常。研究该基因有助于理解结缔组织疾病的机制并开发靶向治疗策略。

中文English

这个基因编码III型胶原，即在可扩展的结缔组织如皮肤，肺，子宫，肠和血管系统中发现，经常与I型胶原关联纤维状胶原蛋白的亲α1链。在这个基因的突变与埃勒斯 - 当洛综合征IV类型有关，主动脉及动脉瘤。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COL3A1基因的介绍     Wikipedia数据库中对COL3A1基因的介绍

基因序列

基因序列

COL3A1基因的碱基序列：[NCBI]
Loading Gene Browser...

编码蛋白质

编码蛋白质

蛋白质序列
1MMSFVQKGSW LLLALLHPTI ILAQQEAVEG GCSHLGQSYA
41DRDVWKPEPC QICVCDSGSV LCDDIICDDQ ELDCPNPEIP
81 FGECCAVCP QPPTAPTRPP NGQGPQGPKG DPGPPGIPGR
121NGDPGIPGQP GSPGSPGPPG ICESCPTGPQ NYSPQYDSYD
161V KSGVAVGG LAGYPGPAGP PGPPGPPGTS GHPGSPGSPG
201YQGPPGEPGQ AGPSGPPGPP GAIGPSGPAG KDGESGRPGR
241PG ERGLPGP PGIKGPAGIP GFPGMKGHRG FDGRNGEKGE
281TGAPGLKGEN GLPGENGAPG PMGPRGAPGE RGRPGLPGAA
321GAR GNDGAR GSDGQPGPPG PPGTAGFPGS PGAKGEVGPA
361GSPGSNGAPG QRGEPGPQGH AGAQGPPGPP GINGSPGGKG
401EMGP AGIPG APGLMGARGP PGPAGANGAP GLRGGAGEPG
441KNGAKGEPGP RGERGEAGIP GVPGAKGEDG KDGSPGEPGA
481NGLPG AAGE RGAPGFRGPA GPNGIPGEKG PAGERGAPGP
521AGPRGAAGEP GRDGVPGGPG MRGMPGSPGG PGSDGKPGPP
561GSQGES GRP GPPGPSGPRG QPGVMGFPGP KGNDGAPGKN
601GERGGPGGPG PQGPPGKNGE TGPQGPPGPT GPGGDKGDTG
641PPGPQGL QG LPGTGGPPGE NGKPGEPGPK GDAGAPGAPG
681GKGDAGAPGE RGPPGLAGAP GLRGGAGPPG PEGGKGAAGP
721PGPPGAAG T PGLQGMPGER GGLGSPGPKG DKGEPGGPGA
761DGVPGKDGPR GPTGPIGPPG PAGQPGDKGE GGAPGLPGIA
801GPRGSPGER GETGPPGPAG FPGAPGQNGE PGGKGERGAP
841GEKGEGGPPG VAGPPGGSGP AGPPGPQGVK GERGSPGGPG
881AAGFPGARGL PGPPGSNGN PGPPGPSGSP GKDGPPGPAG
921NTGAPGSPGV SGPKGDAGQP GEKGSPGAQG PPGAPGPLGI
961AGITGARGLA G PPGMPGPR GSPGPQGVKG ESGKPGANGL
1001SGERGPPGPQ GLPGLAGTAG EPGRDGNPGS DGLPGRDGSP
1041GGKGDRGENG SP GAPGAPG HPGPPGPVGP AGKSGDRGES
1081GPAGPAGAPG PAGSRGAPGP QGPRGDKGET GERGAAGIKG
1121HRGFPGNPGA PGS PGPAGQ QGAIGSPGPA GPRGPVGPSG
1161PPGKDGTSGH PGPIGPPGPR GNRGERGSEG SPGHPGQPGP
1201PGPPGAPGPC CGGV GAAAI AGIGGEKAGG FAPYYGDEPM
1241DFKINTDEIM TSLKSVNGQI ESLISPDGSR KNPARNCRDL
1281KFCHPELKSG EYWVD PNQG CKLDAIKVFC NMETGETCIS
1321ANPLNVPRKH WWTDSSAEKK HVWFGESMDG GFQFSYGNPE
1361LPEDVLDVHL AFLRLL SSR ASQNITYHCK NSIAYMDQAS
1401GNVKKALKLM GSNEGEFKAE GNSKFTYTVL EDGCTKHTGE
1441WSKTVFEYRT RKAVRLP IV DIAPYDIGGP DQEFGVDVGP
1481VCFL
结构预测来自 AlphaFold DB（UniProt: P02461），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

COL3A1基因的碱基突变：           仅显示部分snp
rs8224       rs11162       rs1040186       rs1040187       rs1356246       rs1516446       rs1516447       rs1516454       rs1800255       rs1801183       rs1801184       rs1878201       rs1878202       rs1914037       rs2056156       rs2138533       rs2176267      

基因表达

基因表达

COL3A1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
ACTCAAGAGTGGAGAATACTGG
59
CCCAGTTTCCATATTACAGAATACC
60
AACAGGAAGCTGTTGAAGG
58
TATTTGGCATGGTTCTGGC
59
GGTGTCAAAGGTGAACGTG
59
TACTACCAGGAGGACCAGG
59
ACTCAAGAGTGGAGAATACTGG
59
CCCAGTTTCCATATTACAGAATACC
59
TCAAGAGTGGAGAATACTGGG
59
CCCAGTTTCCATATTACAGAATACC
59
GTGTCAAAGGTGAACGTGG
59
TTACTACCAGGAGGACCAG
57
TCAAGAGTGGAGAATACTGGG
59
CCCAGTTTCCATATTACAGAATACC
60
ACAGGAAGCTGTTGAAGGA
59
ATATTTGGCATGGTTCTGGC
59
CAAGAGTGGAGAATACTGGGT
59
CCCAGTTTCCATATTACAGAATACC
59
CAAGAGTGGAGAATACTGGGT
59
CCCAGTTTCCATATTACAGAATACC
60

转录因子

转录因子

      尚未收录相关数据

基因本体信息

COL3A1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

COL3A1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0001501
P02461 (UniProtKB)
IEA
GO:0005178
P02461 (UniProtKB)
NAS
GO:0005178
P02461 (UniProtKB)
IMP
GO:0005201
P02461 (UniProtKB)
IMP
GO:0005201
P02461 (UniProtKB)
IMP
GO:0005515
P02461 (UniProtKB)
IPI
GO:0005515
P02461 (UniProtKB)
IPI
GO:0005515
P02461 (UniProtKB)
IPI
GO:0005515
P02461 (UniProtKB)
IPI
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005576
P02461 (UniProtKB)
TAS
GO:0005586
P02461 (UniProtKB)
NAS
GO:0005586
P02461 (UniProtKB)
IMP
GO:0005586
P02461 (UniProtKB)
IMP
GO:0005615
P02461 (UniProtKB)
IDA
GO:0005615
P02461 (UniProtKB)
NAS
GO:0005788
P02461 (UniProtKB)
TAS
GO:0005788
P02461 (UniProtKB)
TAS
GO:0005788
P02461 (UniProtKB)
TAS
GO:0005788
P02461 (UniProtKB)
TAS
GO:0005788
P02461 (UniProtKB)
TAS
GO:0007160
P02461 (UniProtKB)
IDA
GO:0007179
P02461 (UniProtKB)
IDA
GO:0007229
P02461 (UniProtKB)
IMP
GO:0007507
P02461 (UniProtKB)
IMP
GO:0007568
P02461 (UniProtKB)
IEA
GO:0009314
P02461 (UniProtKB)
IDA
GO:0009612
P02461 (UniProtKB)
IEA
GO:0018149
P02461 (UniProtKB)
IDA
GO:0021987
P02461 (UniProtKB)
ISS
GO:0030168
P02461 (UniProtKB)
NAS
GO:0030198
P02461 (UniProtKB)
TAS
GO:0030199
P02461 (UniProtKB)
NAS
GO:0030199
P02461 (UniProtKB)
IMP
GO:0030199
P02461 (UniProtKB)
IMP
GO:0030574
P02461 (UniProtKB)
TAS
GO:0031012
P02461 (UniProtKB)
IMP
GO:0031012
P02461 (UniProtKB)
IMP
GO:0034097
P02461 (UniProtKB)
IDA
GO:0034097
P02461 (UniProtKB)
IDA
GO:0035025
P02461 (UniProtKB)
ISS
GO:0042060
P02461 (UniProtKB)
IDA
GO:0042060
P02461 (UniProtKB)
NAS
GO:0043206
P02461 (UniProtKB)
IMP
GO:0043588
P02461 (UniProtKB)
IMP
GO:0046332
P02461 (UniProtKB)
IEA
GO:0046872
P02461 (UniProtKB)
IEA
GO:0048407
P02461 (UniProtKB)
IDA
GO:0048565
P02461 (UniProtKB)
IEA
GO:0050776
P02461 (UniProtKB)
TAS
GO:0050777
P02461 (UniProtKB)
IMP
GO:0060414
P02461 (UniProtKB)
IEA
GO:0071230
P02461 (UniProtKB)
IEA
GO:2001223
P02461 (UniProtKB)
ISS
GO:0031012
P02461 (UniProtKB)
TAS

基因相关microRNA

基因相关microRNA

可能调控 COL3A1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
Reactome
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关联基因 作用方式 资源库来源/分值

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
Ehlers-Danlos Syndrome, Type IV 0.453224707 51 343 BeFree_CLINVAR_GAD_MGD_ORPHANET_UNIPROT
Ehlers-Danlos syndrome, type 3 (disorder) 0.36 1 0 CLINVAR_CTD_human_UNIPROT
Ehlers-Danlos Syndrome 0.134406282 33 0 BeFree_CTD_human_LHGDN
Liver Cirrhosis 0.122638474 6 0 BeFree_CTD_human_GAD
Acrogeria 0.120542884 2 0 BeFree_ORPHANET
Liver diseases 0.120271442 2 0 BeFree_CTD_human
Hyperglycemia 0.120271442 1 0 BeFree_CTD_human
Liver Cirrhosis, Alcoholic 0.12 1 0 CTD_human
Keloid 0.12 1 0 CTD_human
Schizophrenia 0.12 1 0 CTD_human

基因相关文献

基因相关文献

Efficient expression of full-length triple-helix recombinant type III collagen in Pichia pastoris.
Li Q, Zhang J, Li Y, Yu H, Zhang J, Zhou J, Chen J, Guan X Synth Syst Biotechnol IF: 4.8 2027-01-00
Valve-Dependent Regional Heterogeneity of Wall Mechanics and Collagen Remodeling in Ascending Thoracic Aortic Aneurysms.
Radner C, Schmid S, Sunderdiek M, Sitnikova Y, Hellmich C, Grefen L, Grab M, Buchstab O, Fabry T, Sachs N, Hagl C, Pichlmaier M, Peterss S, Buech J Int J Mol Sci IF: 3.226 2026-03-14
Quercus acuta Acorn Bran Extract Enhances Wound Healing by Promoting Human Dermal Fibroblast Migration and Antioxidant Activity.
Lim SA, Son TH, Shin HL, Kim D, Yoon JH, Kim HG, Choi H, Kim SH, Choi SW Pharmaceuticals (Basel) 2026-03-15
What Every Vascular Surgeon Should Know About Vascular Ehlers-Danlos Syndrome.
Lian T, Bhandari A, Shalhub S Ann Vasc Surg IF: 1.6 2026-08-00
MsrB2 deficiency amplifies ECM-driven cardiac fibrosis under hypertensive stress.
Yun JH, Cho S, Lee JY, Kim S, Lee SH Front Physiol IF: 4.134 None
Testosterone protects from metabolic syndrome-associated lung dysfunction in a high-fat diet rabbit model.
Guarnieri G, Comeglio P, Filippi S, Cellai I, Acciai G, Bartolucci G, Pini A, Amedei A, Silvestri L, Garella R, Ragosta ME, Cipriani S, Marchiani S, Rastrelli G, Maggi M, Morelli A, Vignozzi L Endocrinology IF: 3.8 2026-05-06
Effect of peritoneal dialysate on peritoneal fibrosis.
Dai Z, Zhou F, Li M, Lin H, Sheng Q, Luo Q BMC Nephrol IF: 2.289 2026-04-18
Adaptor protein CIN85 potentiates the motility of osteosarcoma cells via the Akt/mTOR and MMP2-COL3A1 axis.
Horak I, Zambo IS, Přikryl M, Múdry P, Zapletalová D, Navrátilová J, Navrátil J, Šmarda J, Drobot L, Beneš P, Knopfová L Mol Oncol IF: 4.5 2026-08-00

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基因相关服务

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