COL5A1 Antibody

• Mutations affecting COL5A1 or COL5A2 are responsible for a range of mucocutaneous, ocular, and facial features in 62 classical Ehlers-Danlos syndrome patients. PMID: 28485813
• COL5A1 gene variants previously associated with reduced soft tissue injury risk have been linked to elite athlete status in rugby. PMID: 29143592
• COL5A1 may contribute to the metastasis of lung adenocarcinoma. PMID: 29702185
• Sex-specific allele combinations of BGN, COL5A1, and DCN, as well as eight miRNA recognition sequences, were associated with altered susceptibility to anterior cruciate ligament ruptures. PMID: 28927971
• Variants of the COL5A1 gene appear to influence quadriceps muscle-tendon stiffness. PMID: 27717059
• Both in cell lines and in a mouse model, the extracellular matrix receptors, including integrin (ITGA3 and ITGA2B), collagen (COL5A1), and laminin (LAMA5), were significantly inhibited by curcumin at messenger RNA and protein levels. PMID: 28618934
• Data suggest that, compared with obese white women, obese black women exhibit higher expression of HIF1A (hypoxia inducible factor 1 alpha), COL5A1 (collagen Valpha1), and COL6A1 (collagen VIalpha1) in gluteal but not abdominal subcutaneous adipose tissue depots; up-regulation of expression of these proteins correlates with reduced insulin sensitivity in black women only. PMID: 27628582
• COL5A1 mutation is associated with Adrenocortical Adenomas. PMID: 27389594
• Gene expression levels of three randomly selected DEGs, VCAN, COL5A1 and KCNJ16, were examined using RT-PCR in 10 ATC samples.. angiogenesis was activated by the high expression of CTHRC1, VCAN and POSTN, providing necessary nutrition for tumor cells. PMID: 27599582
• COL5A1 rs12722 was found to be associated with severity of musculoskeletal injuries but not with incidence of musculoskeletal injuries in top-level soccer players. PMID: 25583227
• Data (including data from studies in knockout mice) suggest a causative role for collagen(V)alpha1 hypersensitivity/autoimmunity in the pathogenesis of atherosclerosis; both immune tolerance and reduction of plaque burden are dependent on interleukin 35. PMID: 26721885
• Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1 is described in a mother and her two sons, who all died at an early age from arterial ruptures. PMID: 25845371
• Individuals with the BstUI A1 allele and DpnII B2 allele of the COL5A1 gene have a high likelihood of developing symptoms of tennis elbow. PMID: 25896984
• In conclusion, the novel main finding of this study was a significant interaction between the COL5A1 rs12722 T/C and COL12A1 rs970547 A/G variants and risk of anterior cruciate ligament injury. PMID: 25073002
• Variants within the functional COL5A1 3'-untranslated region are associated with idiopathic carpal tunnel syndrome. PMID: 24966028
• Running economy, the energy cost or oxygen uptake for a given submaximal running speed, was not associated with variants within the COL5A1 gene. PMID: 25188268
• Found down-regulation of COL5A1 in osteo-induced cultures at days 21 and 28, when the mineralized matrix accumulates. PMID: 25132375
• High Collagen type V promotes the malignant phenotype of pancreatic ductal adenocarcinoma. PMID: 25449434
• COL5A1 mutations led to structural tendon pathology and low tendon stiffness in classic Ehlers-Danlos syndrome. PMID: 25122555
• Tendon properties do not seem to be influenced by the COL5A1 rs12722 gene variant. PMID: 24643429
• Provide evidence for a relationship between COL5A1, running performance, and joint range of motion. PMID: 24085259
• Data confirm that COL5A1 and COL5A2 are the major, if not the only, genes involved in classic Ehlers-danlos syndrome. PMID: 23587214
• The COL5A1 3'-UTR markers rs71746744, rs16399 and rs1134170 are associated with chronic Achilles tendinopathy. PMID: 23347277
• The study shows that over 90% of patients, which strictly satisfy all major Villefranche criteria for classic Ehlers-Danlos Syndrome (EDS), harbor a type V collagen defect, indicating that this is the major, if not only, cause of classic EDS. PMID: 22696272
• SNPs in the COL5A1 region, which regulate normal variation in CCT, may play a role in the thinning associated with keratoconus. PMID: 23513063
• A large number of hydroxyproline residues were mapped to the X-positions of Gly-X-Y triplets of the alpha1(V) collagen chain. PMID: 23060441
• Single nucleotide polymorphisms in the COL5A1 gene are associated with central corneal thickness in glaucoma. PMID: 22814818
• Collagen V may be expressed in skin as different subtypes with important but distinct roles in matrix organization and stability. PMID: 22437311
• The association between COL5A1 BstUI RFLP and sit and reach (SR) ROM in an apparently healthy and physically active cohort was investigated. The COL5A1 BstUI RFLP was found to be associated with SR ROM, particularly with increasing age. PMID: 21362053
• The COL5A1 genotype was found to be significantly associated with performance in a 56 km ultra-endurance run. The COL5A1 gene may alter muscle-tendon stiffness. PMID: 21934170
• This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous preterm delivery. PMID: 22208904
• Before bronchiolitis obliterans, lung transplantation patients had antibodies to Col-V, alpha1(V) & alpha2(V) but at clinical diagnosis of BOS, antibodies were restricted to alpha1(V). Lung biopsy indicating that alpha1(V) epitopes are exposed. PMID: 22132895
• Phenotypes associated directly or indirectly with the mechanical properties of musculoskeletal soft tissue [review]. PMID: 21697718
• Tendinopathic phenotype is associated with increased COL5A1 mRNA stability. PMID: 21609763
• This is the first study to identify the COL5A1 BstUI RFLP as a marker for endurance running performance. PMID: 20798666
• Role of mutations in Ehlers-Danlos syndrome (Review). PMID: 20847697
• GWAS summary data, COL5A1 was genome-wide significant (beta = 0.13 SD, P = 5.1 x 10(-8)), together with two additional novel loci. The second new locus (defined by rs1034200) was 5 kb from the AVGR8 gene. PMID: 20719862
• The authors found no interaction between the matrix metallopeptidase 3 rs679620 variant, the COL5A1 BstUI restriction fragment length polymorphism and range of motion measurements. PMID: 20359947
• Investigates the association of sequence variants within COL5A1 and musculotendinous range of motion. Data suggest that the COL5A1 BstUI RFLP is independently associated with lower limb ROM. PMID: 19422640
• Heterozygous mutations in COL3A1 are associated with arterial rupture in classic Ehlers-Danlos syndrome. PMID: 20635400
• The formation of [alpha1(V)](3) homotrimers was considerably favored over the heterotrimer [alpha1(V)](2)alpha2(V). PMID: 20625483
• Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator). PMID: 20719862
• Variants within the MMP3 gene are associated with Achilles tendinopathy and the MMP3 gene variant rs679620 and the COL5A1 marker rs12722 interact to modify the risk of tendinopathy. PMID: 19042922
• The CC genotype of the COL5A1 BstUI RFLP was underrepresented in female participants with anterior cruciate ligament ruptures. PMID: 19654427
• Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. PMID: 12145749
• Antisense oligonucleotides reduced synthesis of type V procollagen alpha1 chain. In addition, both antisense oligonucleotides partially reduced type V procollagen alpha1 chain mRNA expression. PMID: 14504037
• Analysis of processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer. PMID: 15136578
• Finds the COL5A1 BstUI RFLP associated with Achilles tendon pathology and more specifically, chronic ATP. PMID: 16430677
• In the eye, COL5A1 and COL5A2 mutations manifest as abnormally thin and steep corneas with floppy eyelids. PMID: 16431952
• Collagen type V alpha 1 was efficiently cleaved by BMP-1 indicating that the triple helix is not required for enzyme activity. PMID: 17407447

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HGNC: 2209

OMIM: 120215

KEGG: hsa:1289

STRING: 9606.ENSP00000360882

UniGene: Hs.210283