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COL5A1

Ehlers-Danlos syndrome. Mutations in the COL5A1 gene cause a form of Ehlers-Danlos syndrome called the classical type. Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues COL5A1 (Collagen Type V Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL5A1 include Ehlers-Danlos Syndrome, Classic Type, 1 and Fibromuscular Dysplasia, Multifocal.Among its related pathways are Collagen chain trimerization and ERK Signaling.Gene Ontology (GO) annotations related to this gene include heparin binding and extracellular matrix structural constituent COL5A1 mutation is associated with Adrenocortical Adenomas. 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 The COL5A1 gene, which encodes the α1-chain of type V collagen, was found to associate with measures of flexibility. Type V collagen is a quantitatively minor fibrillar collagen, which is believed to regulate fibrillogenesis within tendons and other connective tissue

COL5A1 c.1540G>A is the first recurring variant recognized to be associated with arterial dissections and mFMD. This variant presents with a phenotype reminiscent of vascular Ehlers-Danlos syndrome. A shared haplotype among probands supports the existence of a common founder. Relatively ra Summary of all sequence variants in the COL5A1 database, sorted by type of variant (with graphical displays and statistics) The Reading-frame checker generates a prediction of the effect of whole-exon changes. Listing of all unique sequence variants in the COL5A1 database, without patient data

COL5A1 gene: MedlinePlus Genetic

COL5A1 Gene - GeneCards CO5A1 Protein CO5A1 Antibod

The COL5A1 gene is associated with autosomal dominant Ehlers-Danlos syndrome (EDS), classical type (MedGen UID: 78660). Additionally, the COL5A1 gene has preliminary evidence supporting a correlation with autosomal dominant keratoconus (PMID: 22924831) Hello Mytrj, EllyMae is correct that everyone has a COL5A1 gene. Genetic conditions are caused by specific genetic mutations. So there is a specific genetic mutation that causes Classical EDS (cEDS) while there are other specific genetic mutations that cause other genetic conditions

Using cDNA and genomic clones for the COL5A1 gene as probes, Greenspan et al. (1992) determined in panels of human-mouse hybrid cell lines and by in situ hybridization experiments that the COL5A1 gene is located in the segment 9q34.2-q34.3. Caridi et al. (1992) likewise assigned the COL5A1 gene to 9q34.3 by in situ hybridization. Mattei et al. (1993) found that the homologous gene in the mouse. Know your genes: COL5A1-The Flexibility Gene. Table of Contents. The COL5A1 gene is associated with the synthesis of type V collagen, a key constituent of ligaments and tendons. Specific alleles of this gene are known to either increase or decrease the risk of injury

COL5A1 collagen type V alpha 1 chain [ (human)

List of variants in gene. COL5A1. studied for Ehlers-Danlos syndrome, classic type. NM_000093. 5 (COL5A1): c. 1000G>A (p. Gly334Ser) NM_000093. 5 (COL5A1): c. 1011C>G (p. Asp337Glu) NM_000093. 5 (COL5A1): c. 1067C>T (p. Thr356Ile COL5A1. Organism. Homo sapiens (Human) Status. Reviewed-Annotation score: -Experimental evidence at protein level i. Function i. Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution.. Two combinations of chains can produce type V collagen: three pro-α1(V) chains (produced from the COL5A1 gene) or two pro-α1(V) chains and one pro-α2(V) chain. The triple-stranded procollagen molecules are processed by enzymes outside the cell to create mature collagen. The collagen molecules then arrange themselves into long, thin fibrils.

The COL5A1 gene: a novel marker of endurance running

  1. COL5A1 is a causative gene of the classical EDS, and variants in COL5A1 have been linked with scoliosis in some reported cases. 34, 35 However, the scoliosis phenotype was only found in Col5a1 knockout rats rather than patients with AD carrying COL5A1 variants
  2. COL5A1 expression significantly increased with the increase of tumor diameter and tumor stage. This finding can be explained by the effect of COL5A1 on tumor cell growth. High COL5A1 expression was also associated with higher Fuhrman grade, suggesting that COL5A1 might be correlated with differentiation of ccRCC
  3. or fibrillar collagen expressed broadly across tissues. It participates in bone and cartilage development, and defects in the COL5A1 gene leads to Ehlers-Danlos Syndrome, a condition that affects the integrity of bones, cartilage and skin (4,5)
  4. or fibrillar collagen that is widely distributed in a variety of tissues, and present mainly as [α1(V)]2.
  5. COL5A1 - Explore an overview of COL5A1, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data

The COL5A1 gene, which encodes the α1-chain of type V collagen, was found to associate with measures of flexibility. Type V collagen is a quantitatively minor fibrillar collagen, which is believed to regulate fibrillogenesis within tendons and other connective tissue. Purpose View mouse Col5a1 Chr2:27776437-27929526 with: phenotypes, sequences, polymorphisms, proteins, references, function, expressio Disease relevance of COL5A1. Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II) . In addition, these studies place COL5A1 near the locus for the genetic disorder, nail-patella syndrome (hereditary osteo-onychodysplasia), which also maps to 9q34 Intensiv-Inkasso für (Online)- Handel, Handwerk, Dienstleistung, uvm

A Novel Recurrent COL5A1 Genetic Variant Is Associated

COL5A1 (collagen, type V, alpha 1) is a protein-coding gene. Diseases associated with COL5A1 include ehlers-danlos syndrome, classic type, col5a1-related, and annular pancreas. GO annotations related to this gene include extracellular matrix structural constituent and heparin binding COL5A1 Larisa 2021-04-14T12:05:08-05:00. GENE SUMMARY. 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.

More than 90% of people affected by classical EDS have an identifiable mutation in the COL5A1 gene or the COL5A2 gene that is known to cause the condition. These genes provide instructions for making different components of type V collagen. Collagen is a protein that provides structure and strength to connective tissues throughout the body This page was last edited on 7 August 2011, at 15:09. Privacy policy. About SNPedi

A novel heterozygous mutation in COL5A1 was detected, resulting in an essential glycine substitution at the C-terminal end of the triple helix domain (NM_000093.4:c.4610G>T; p.Gly1537Val). This mutation was also present in DNA isolated from autopsy material of the index's brother. No material was available from the mother, but the mutation was. COL5A1, the gene for the {alpha}1 chain of type V collagen, has been considered a candidate gene for certain diseases based on chromosomal location and/or disease phenotype. We have employed 3{prime}-untranslated region RFLPs to exclude COL5A1 as a candidate gene in families with tuberous sclerosis 1, Ehlers-Danlos syndrome type H, and nail. COL5A1 null alleles are detected in approximately 30%-40% of individuals with classic EDS [Malfait et al 2005]. No deletions or duplications involving COL5A1 as causative of classic EDS have been reported. In some families with a non-functional (i.e., null) COL5A1 allele, an affected member can have a very mild classic EDS phenotype, while.

COL5A1 homepage - Ehlers Danlos Syndrome Variant Database

Additionally, COL5A1 was more enriched in OC stem cell-like cells. Silencing COL5A1 expression decreased the OC cell resistance to PTX and inhibited the ability of OC-spheroid formation. Survival analysis predicted that the elevated COL5A1 expression was associated with a worse survival outcome and correlated to the tumor stage of OC patients GENERAL INFORMATIONi. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to HGNC. COL5A1 ab189285 is specific for Human COL5A1. Shows < 10% reactivity with collagen type I, II, III, IV, and VI. It may react with collagen V from other species. Reactivity with other ECM proteins has not been tested

Collagen, type V, alpha 1 - Wikipedi

COL5A1, COL5A2, COL1A1: Vascular: type 4: Is an autosomal dominant defect in the type-III collagen synthesis; now thought to affect approximately 1 in 50,000 to 1 in 200,000. Most are only diagnosed after rupturing, so it is believed that many more may well go undiagnosed Las mutaciones en COL5A1 o COL5A2 resultan en defectos en la estructura y función de las moléculas de colágeno tipo V y en las señales y síntomas del SED tipo clásico. [5] [6] En casos raros, se pueden encontrar mutaciones en el gen COL1A1 , que codifican el colágeno tipo I. [3] El colágeno tipo V está asociado al colágeno tipo I, que.

Functional Associations. COL5A1 has 5,494 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 85 datasets The majority of the 73 COL5A1 mutations generated a COL5A1 null-allele, whereas one-third were structural mutations, scattered throughout COL5A1. All COL5A2 mutations were structural mutations. Reduced availability of type V collagen appeared to be the major disease-causing mechanism, besides other intra- and extracellular contributing factors A fusion mRNA between COL5A1 and an Alu sequence is produced, but no aberrant protein is detectable. Rather, the amount of type V collagen is reduced in the patient's fibroblasts, suggesting. This sequence change replaces proline with alanine at codon 435 of the COL5A1 protein (p.Pro435Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. This variant is present in population databases (rs377488010, ExAC 0.005%)

The demonstration of mutations in the COL5A1 (50a) gene began with identification of a chromosomal translocation that interrupted the gene on chromosome 9 (48). A second mutation that resulted in loss of the amino acids encoded by exon 65 of the COL5A1 gene was the consequence of a 4-bp deletion from the intron 65 donor site (44) Further analysis of acRIP-seq and RIP-seq data showed that COL5A1 was a direct target of NAT10-mediated mRNA ac4C modification, and NAT10 regulated ac4C modification on COL5A1 mRNA 3′UTR through. The candidate SNPs association with TB susceptibility. The COL1A1 and COL5A1 candidate SNPs rs1800012 and rs12722 were analyzed by the allele and genotype distribution, allele and genotype frequencies (Tables 2,3).There were no differences observed in allele frequencies and genotype frequencies of COL1A1 SNP rs1800012 between case and control groups (Fig. 1, Table 2)

New COL5A1 Gene Mutation Found in Child with Classical

COL5A1. Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin col5a1 has several biochemical functions, for example, extracellular matrix structural constituent, heparin binding, integrin binding. Some of the functions are cooperated with other proteins, some of the functions could acted by col5a1 itself. We selected most functions col5a1 had, and list some proteins which have the same functions with. COL5A1 polymorphisms reduce the risk of tendon-ligament injury among Caucasians.. Pre-outlier reduced risk effects on tendon-ligament injury were significant in rs12722 but not in rs13946. Outlier treatment impacted upon the rs12722 and rs13946 polymorphism outcomes, with significance strengthened and gained, respectively

Ehlers Danlos Classic Type Risk (COL5A1 and COL5A2

  1. e whether COL5A1, PPARA, and GDF5 genes are associated with muscle functions and stretch-shortening cycle performance in adolescent athletes. One hundred forty-six youth players.
  2. imal risk of off-target Cas9 binding elsewhere in the genome. For complete details on the criteria and process for guide RNA design and selection, please see: Sanjana N.E.
  3. o acids 251-450 mapping within an extracellular domain of Collagen α1 Type V of human origi

Core Ehlers-Danlos Syndrome Panel Genes COL3A1, COL5A1, COL5A

  1. 42 COL5A1 Silencer Select Pre-designed, Validated, and Custom siRNA in Standard, HPLC, and In-vivo Ready Purities
  2. The COL5A1 gene is the most explored genetic locus in relation to tendon and ligament injuries [21,22,23,24,25], while mutations in the COL5A1 gene have been identified in Ehlers-Danlos syndrome, a disease characterised by joint hypermobility, laxity and muscle hypotonia
  3. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet 66(6):1766-76. Signal Peptide Mutations in COL5A1 E403 Wenstrup RJ, Langland GT, Willing MC, D'Souza VN, Cole WG. 1996. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains.
  4. ant connective tissue disorder that is primarily characterized by skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility

COL5A1(NM_000093.4):c.145C>T (p.H49Y), NM_000093.4(COL5A1):c.145C>T p.(His49Tyr) COL5A1_000439 variant could not be associated with disease phenotype, VKGL data sharing initiative Nederlan Further, additional variants in the COL5A1 gene were associated with a higher rate of arterial dissections among individuals with multifocal FMD. Paper cited: A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia

col5a1-201 ID ZDB-TSCRIPT-090929-19946 Name col5a1-201 Previous Names. col5a1-001; si:dkey-87m23.1-001; Transcript Type mRNA Annotation Status Associated With Genes. col5a1 Strain TU Non Reference Strain Genome Resources. Vega_Trans:OTTDART00000039687 ; Ensembl_Trans:ENSDART00000139598 ; RNA Central None Note Non by COL5A1 and COL5A2, respectively. The α1-propeptide chain is composed of three domains: N-propeptide, α-helix, and C-propeptide [13]. COL5A1 cDNA comprises 66 exons distributed over more than 150kb of genomic DNA. The most common null muta-tions detected in COL5A1 consist of frameshift, nonsense, and splice site mutations that result in a.

COL5A1 SelfDecode Genome Analysi

COL5A1, collagen type V alpha 1 chai

Objectives: Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of this case-control genetic association study was to investigate whether variants within the matrix metalloproteinase 3 ( MMP3 ) gene also contributed to both Achilles tendinopathy and Achilles tendon rupture in a Caucasian population The COL5A1 gene encodes the protein Collagen alpha-1(V) chain, which is involved in the formation of connective tissue in the musculoskeletal system. People with a T allele of this gene have been shown to have an increased risk of injury [8]. The IGF2 gene encodes insulin-lik Conclusions: Our study is the first COL5A1 gene molecular investigation conducted among cEDS patients from Central Eastern Europe. Besides new COL5A1 variant findings, we gained molecular confirmation of clinical diagnosis of cEDS. In some cases, specific and adequate evaluation and classification of EDS patients based only on clinical features. The COL5A1 rs12722 genotype frequencies in studies 1 and 2 did not deviate from Hardy-Weinberg equilibrium (P = 0.975 and P = 0.183).. Study 1. Table 1 shows descriptive data on the characteristics of the participants in study 1. There were significant sex differences in height, body mass, PSLR ROM, SR ROM, and muscle shear modulus of the ST and SM (Table 1)

Expression of COL5A1 in cancer tissue. The cancer tissue page shows antibody staining of the protein in 20 different cancers Description: Homo sapiens collagen, type V, alpha 1 (COL5A1), transcript variant 2, mRNA. RefSeq Summary (NM_001278074): 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.

COL5A1 collagen type V alpha 1 chain - Gene - GTR - NCB

COL5A1 encodes the protein 'pro-alpha1(V)chain' and COL5A2 encodes 'pro-alpha2(V)chain'. The pro- designation indicates that their final product must be acted on by an enzyme which activates the final structure. Procollagen is the product of three chain-like proteins. Procollagen is processed by extracellular enzymes to a mature. This test includes next-generation sequencing (NGS) and supplemental Sanger sequencing to evaluate for variants in the ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, and TGFBR2 genes. Additionally, NGS is used to test for the presence of large deletions and duplications in a subset of genes COL5A1 rs12722: T C/T COL5A1 rs7044529: T C/T COL6A3 rs1131296: A C/T COL6A3 rs2270669: C C/G CRTAP rs72659361: T.

COL5A1, the gene for the alpha 1 chain of type V collagen, has been considered a candidate gene for certain diseases based on chromosomal location and/or disease phenotype. We have employed 3'-untranslated region RFLPs to exclude COL5A1 as a candidate gene in families with tuberous sclerosis 1, Ehlers-Danlos syndrome type II, and nail-patella. Looking for online definition of COL5A1 or what COL5A1 stands for? COL5A1 is listed in the World's largest and most authoritative dictionary database of abbreviations and acronyms The Free Dictionar Our laboratory is therefore well-positioned to re-classify previously reported variants as new information becomes available. If a variant previously reported by Blueprint Genetics is re-classified, our laboratory will issue a follow-up statement to the original ordering health care provider at no additional cost. Order COL5A1 single gene test 3.2. Identification of a Novel Genetic Variant. Comparing KC patients to healthy individuals, COL5A1 is the only non-SNP variant identified with a frequency of ≤1% within the intron, while other variants (SNPs) were identified at the exon (Table 2).The novel heterozygous genetic variant is an acceptor-splice-site (IVS50-4C > G) mutation in intron 50

Video: Collagen, type V, alpha 2 - Wikipedi

Comparison between a typical JHS/EDS-HT patient withSíndrome de Ehlers-Danlos tipo I: importancia delGenodermatoses at Lake Erie College Of OsteopathicEDS Types | The Ehlers Danlos Society : The Ehlers Danlos

Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin (By similarity). Transcriptionally activated by CEBPZ, which recognizes a CCAAT-like motif, CAAAT in the COL5A1 promoter Compare COL5A1 Biomolecules from leading suppliers on Biocompare. View specifications, prices, citations, reviews, and more The CC genotype of the COL5A1 BstUI RFLP was underrepresented in female participants with anterior cruciate ligament ruptures. Clinical Relevance This is the first study to show that there is a specific genetic risk factor associated with risk of anterior cruciate ligament ruptures in female athletes