COL3A1 (collagen type III alpha 1 chain)

2008-07-01  

Identity

HGNC
LOCATION
2q32.2
LOCUSID
ALIAS
EDS4A,EDSVASC,PMGEDSV
FUSION GENES

Other Information

Locus ID:

NCBI: 1281
MIM: 120180
HGNC: 2201
Ensembl: ENSG00000168542

Variants:

dbSNP: 1281
ClinVar: 1281
TCGA: ENSG00000168542
COSMIC: COL3A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168542ENST00000304636P02461
ENSG00000168542ENST00000317840P02461
ENSG00000168542ENST00000450867H7C435

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Platelet activationKEGGhsa04611
Vesicle-mediated transportREACTOMER-HSA-5653656
Binding and Uptake of Ligands by Scavenger ReceptorsREACTOMER-HSA-2173782
Scavenging by Class A ReceptorsREACTOMER-HSA-3000480
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA179GP1BBGenePathwayassociated20938371
PA204ITGA2GenePathwayassociated20938371
PA26212CD36GenePathwayassociated20938371
PA28823GP5GenePathwayassociated20938371
PA28824GP6GenePathwayassociated20938371
PA28825GP9GenePathwayassociated20938371
PA443997Ehlers-Danlos SyndromeDiseaseLiterature, MultilinkAnnotationassociated23788249

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
210448842011Collagen binding specificity of the discoidin domain receptors: binding sites on collagens II and III and molecular determinants for collagen IV recognition by DDR1.56
197900482009Hypoxia-inducible factor 1alpha inhibits the fibroblast-like markers type I and type III collagen during hypoxia-induced chondrocyte redifferentiation: hypoxia not only induces type II collagen and aggrecan, but it also inhibits type I and type III collagen in the hypoxia-inducible factor 1alpha-dependent redifferentiation of chondrocytes.50
115773712001Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.39
160434292005A novel binding site in collagen type III for integrins alpha1beta1 and alpha2beta1.39
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
196396542009Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD).34
149702082004Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin.31
153659902004Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.31
188187482008Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.31

Citation

Dessen P

COL3A1 (collagen type III alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50204/col3a1