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Collagen, type V, alpha 1

COL5A1
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: COL1A1, COL5A2, COL3A1, HAD, CAN
Papers on COL5A1
Discovery of signature genes in gastric cancer associated with prognosis.
New
Ma et al., In Neoplasma, Feb 2016
A total of 17 genes were identified as signature genes, such as DAB2, ALDH2, CD58, CITED2, BNIP3L, SLC43A2, FAU and COL5A1.Many signature genes associated with prognosis of GC were identified in present study, some of which have been implicated in the pathogenesis of GC.
Systematically identify key genes in inflammatory and non-inflammatory breast cancer.
New
Jiang et al., Chongqing, China. In Gene, Feb 2016
Here, we comprehensively analyzed and compared the transcriptional profiles from IBC and non-IBC patients using hierarchical clustering, protein-protein interaction (PPI) network, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) database analyses, and identified PDGFRβ, SUMO1, COL1A1, FYN, CAV1, COL5A1 and MMP2 to be the key genes for breast cancer.
RNA sequencing identifies crucial genes in papillary thyroid carcinoma (PTC) progression.
New
Sun et al., Qingdao, China. In Exp Mol Pathol, Jan 2016
Hub nodes in the PPI network were RRM2 and a set of collagens (COL1A1, COL3A1 and COL5A1), which were also remarkable in module 3 and module 5, respectively.
Expression of genes involved in cellular adhesion and ECM-remodelling correlates with poor survival of renal cancer patients.
New
Piekielko-Witkowska et al., Warsaw, Poland. In J Urol, Dec 2015
The 10-gene expression signature (COL1A1, COL5A1, COL11A1, FN1, ICAM1, ITGAL, ITGAM, ITGB2, THBS2, and TIMP1) correlated with poor survival (HR=2.85,
Inhibition of UV-induced Matrix Metabolism by a Myristoyl Tetrapeptide.
New
Park et al., Seoul, South Korea. In Cell Biol Int, Nov 2015
In addition, mGLFW increased the expression of collagen genes, including COL1A1, COL1A2, and COL5A1.
The COL5A1 genotype is associated with range of motion.
New
Min et al., Pusan, South Korea. In J Exerc Nutrition Biochem, Jun 2015
PURPOSE: The aim of our study was to investigate the association between COL5A1 genotype and Range of Motion as measured by the passive straight leg raise (SLR) and whole body join laxity (WBJL) in Asian population.
Osteoarthritis year in review 2014: genetics and genomics.
Review
Tsezou, Lárisa, Greece. In Osteoarthritis Cartilage, 2014
In OA synovium elevation of collagens and cross-linking enzymes (COL1A1, COL5A1, PLOD2, LOX and TIMP1) responsive to TGF-β was found as well as differential expression pattern between different areas of the osteoarthritic synovial membrane.
Ex vivo multiscale quantitation of skin biomechanics in wild-type and genetically-modified mice using multiphoton microscopy.
Ruggiero et al., Palaiseau, France. In Sci Rep, 2014
pN allele) and the transgenic K14-COL5A1 mice which overexpress the human COL5A1 gene in skin.
Vascular type Ehlers-Danlos Syndrome with fatal spontaneous rupture of a right common iliac artery dissection: case report and review of literature.
Review
Cain et al., Louisville, United States. In J Radiol Case Rep, 2014
Vascular Ehlers-Danlos Syndrome (previously Ehlers-Danlos IV) is a rare autosomal dominant collagen vascular disorder caused by a 2q31 COL3A1 gene mutation encoding pro-alpha1 chain of type III collagen (in contrast to classic Ehlers-Danlos, caused by a COL5A1 mutation).
Classic Ehlers-Danlos syndrome: case report and brief review of literature.
Review
Azevedo et al., Porto, Portugal. In Acta Dermatovenerol Croat, 2012
Genetic study revealed a heterozygous variant (c.379C>T) in exon 3 of the COL5A1 gene, not previously described in the literature, confirming the clinical suspicion.
In vivo evidence for a bridging role of a collagen V subtype at the epidermis-dermis interface.
GeneRIF
Ruggiero et al., Lyon, France. In J Invest Dermatol, 2012
collagen V may be expressed in skin as different subtypes with important but distinct roles in matrix organization and stability.
A shift in the collagen V antigenic epitope leads to T helper phenotype switch and immune response to self-antigen leading to chronic lung allograft rejection.
GeneRIF
Mohanakumar et al., Saint Louis, United States. In Clin Exp Immunol, 2012
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.
Collagen V is a dominant regulator of collagen fibrillogenesis: dysfunctional regulation of structure and function in a corneal-stroma-specific Col5a1-null mouse model.
GeneRIF
Birk et al., Tampa, United States. In J Cell Sci, 2012
Col5a1 knockout stroma demonstrated severe dysfunctional regulation of fibrillogenesis.
The COL5A1 gene, ultra-marathon running performance, and range of motion.
GeneRIF
Collins et al., Cape Town, South Africa. In Int J Sports Physiol Perform, 2011
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.
Type V collagen genotype and exercise-related phenotype relationships: a novel hypothesis.
Review
GeneRIF
Posthumus et al., Cape Town, South Africa. In Exerc Sport Sci Rev, 2011
phenotypes associated directly or indirectly with the mechanical properties of musculoskeletal soft tissue [review]
Candidate gene analysis of spontaneous preterm delivery: new insights from re-analysis of a case-control study using case-parent triads and control-mother dyads.
GeneRIF
Jacobsson et al., Oslo, Norway. In Bmc Med Genet, 2010
This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous preterm delivery.
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
Review
GeneRIF
De Paepe et al., Gent, Belgium. In Genet Med, 2010
role of mutations in Ehlers-Danlos syndrome (Review)
Hypoxia-inducible factor-1 {alpha} expression predicts superior survival in patients with diffuse large B-cell lymphoma treated with R-CHOP.
Impact
Gordon et al., Chicago, United States. In J Clin Oncol, 2010
In terms of gene expression, we found several common gene associations of HIF-1alpha and the stromal-1 signature with genes predominantly involved in regulation of the extracellular matrix (eg, BGN, COL1A2, COL5A1, and PLOD2).
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
Impact
Greenspan et al., Grand Rapids, United States. In Nat Genet, 1996
Here, we describe a balanced translocation between chromosome 9 and an X chromosome that disrupts the minor fibrillar collagen type V gene COL5A1 in a patient with both EDS type I and hypomelanosis of Ito.
A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.
Impact
Vanderstoep et al., Ann Arbor, United States. In Nat Genet, 1994
Two potential candidate genes, COL5A1 and ZNF79, are also located within 9q33-34.
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