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Validated All-in-One™ qPCR Primer for COL1A1(NM_000088.3) Search again
Product ID:
HQP002462
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4
Gene Description:
collagen type I alpha 1 chain
Target Gene Accession:
NM_000088.3(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon.
Gene References into function
- disulfide disruption permits slow assembly and secretion of overmodified, but stable procollagen trimers and results in mild osteogenesis imperfecta
- Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta
- A member of the Y-box protein family interacts with an upstream element in the alpha1(I) collagen gene.
- COLIA1 Sp1 TT genotype is associated with an increased fracture risk in postmenopausal women
- two new SNPs in the COL1A1 promoter, which may affect bone mass determination
- keratinocyte growth factor (KGF), a key stimulator of epithelial cell proliferation during wound healing, preferentially binds to collagens I, III, and VI.
- The collagen type I, alpha 1 polymorphism in the Sp1 binding site is associated with differences in ultrasound transmission velocity in the calcaneus of postmenopausal women.
- Fusion of COL1A1 exon 29 with PDGFB exon 2 in a der(22)t(17;22) in a pediatric giant cell fibroblastoma with a pigmented Bednar tumor component. Evidence for age-related chromosomal pattern in dermatofibrosarcoma protuberans and related tumors.
- A 30-residue peptide model of the alpha 1(I) chain of type I collagen is designed which demonstrates sequence preference of the C-terminal repeating (Gly-Pro-Hyp)4 subdomain for initiation of triple-helix formation--an all-or-none third-order reaction.
- Interaction of human breast fibroblasts with collagen I increases total cathepsin B protein levels
- investigation of the genetic influence of the Sp1 polymorphism on bone density in Irish women
- C-propeptide region of human pro alpha 1 type 1 collagen interacts with thioredoxin
- A fusion of COLIA1 exon 24 in frame with PDGFB exon 2 was found in a complex marker chromosome from dermatofibrosarcoma protuberans with sequences from chromosomes 7,8,17,21, & 22.
- These data indicate that mitoxantrone and WP631 are very potent inhibitors of basal and TGF-beta-stimulated COL1A1 expression.
- in the presence of high molecular weight fragments of type I collagen, type I procollagen synthesis is inhibited.
- Upstream elements present in the 3'-untranslated region of the gene influence the processing efficiency of overlapping polyadenylation signals.
- Allele frequency of the G-->T mutation of this gene is analyzed by an ARMS-PCR in osteoporotic subjects with femoral neck fractures.
- The COLIA1 polymorphism in children and young adults is associated with several bone characteristics.
- This protein is regulated by human basic fibroblast growth factor.
- Analysis of the Collal alleles provides early detection of the individuals with hereditary predisposition to osteoporosis and prophylaxis of the disease at the presymptomatic stage.
- A degradation fragment originating from the helical part of type I collagen consisting of residues 620-633 of the alpha 1 chain sequence is useful clinically as a bone resorption marker in patients with osteoporosis.
- mutational analysis in Lithuanian patients with osteogenesis imperfecta
- in men, the "ss" genotype of COLIA1 polymorphism could be the best osteoporotic fracture risk genetic predictor, independent of bone mass values
- COL7A1 mutation is characteristic in patients with dystrophic epidermolysis bullosa.
- Polymorphism analysis in the COLIA1 gene of patients with thalassemia major and intermedia.
- The Sp1 transcription factor binding site polymorphism of COL1A1 is associated with a modest reduction in bone mineral density and a significant increase in risk of osteoporotic fracture, particularly vertebral fracture.
- estrogen receptor alpha Px haplotype and collagen IA1 s allele may be involved in causing the phenotypic expression of higher circulating levels of parathyroid hormone and higher bone turnover, which may lead to bone loss
- genetic polymorphisms of the vitamin D receptor, estrogen receptor, and collagen Ialpha1 genes were characterized in 72 osteosarcoma and 53 Ewing sarcomas and in a group of 143 healthy matched children.
- The "s" allele of COLIA1 gene in combination with the Px haplotype of the ER alpha gene contributes to reduced BMD in females.
- In a cohort of 75-year-old Swedish women, there was an association among the Sp1 COLIA1 polymorphism, bone mass, and fracture.
- COL1A1 gene expression is downregulated by B-Myb in fibroblasts from patients with systemic sclerosis.
- Although connective tissue growth factor alone had no effect on collagen secretion, combined stimulation with IGF-I enhanced collagen accumulation.
- This study identified a novel COL1A1 breakpoint, namely, exon 42 of the COL1A1 gene.
- COL1A1 gene may have some effects on bone size variation at the wrist, but not at the spine or hip in Caucasian nuclear families.
- The genotype frequency of COLIA1 polymorphism was also not different between PBC patients and controls, however the "s" allele was significantly less frequent in patients with PBC (p = 0.038).
- Osteogenesis imperfecta Type 1: diagnosis could be verified by moleculargenetic analysis, a newly recognized heterozygous point mutation (Arg420Stop) in the COL1A1-gene was found.
- Results characterize promoters from the human alpha1(I) procollagen gene.
- The lower collagen content in the endopelvic fascia and skin of women with SUI is not due to reduced collagen synthesis or selective reduction in synthesis of either collagen I or collagen III.
- This study showed a significant association between otosclerosis and the COL1A1 first intron Sp1 site. The allelic frequency of the Sp1 site is very similar between otosclerosis and osteoporosis.
- Predicted rates of AA substitution for Gly were compared with missense mutations known to cause disease. The most destabilizing residues, Val, Glu, & Asp, & the least destabilizing residue, Ala, were underrepresented.
- the common genetic variants at the PCOL2 and Sp1 sites, and importantly, their interactive effects, may contribute to bone mineral density variation in elderly Caucasian females
- hnRNPE1, and K are positive effectors of collagen synthesis acting at the post-transcriptional level by interaction with the 3'-untranslated region (3'-UTR) of COL1A1 mRNAs.
- The effect of the COLIA1 Sp1 polymorphism and ultrasound velocity on wrist fracture risk is more pronounced in patients with a higher body weight.
- This is the first molecular modeling study addressing type I collagen alpha 1 chain carboxyl (C)-telopeptide conformation using all three chains of the heterotrimer before and after it docks to its receptor domain.
- The COL1A1 polymorphism is independently associated with bone density in postmenopausal Spanish women.
- COLIA1 genotype may affect bone accrual in a population treated for childhood cancer.
- mutations near amino end of alpha1(I) collagen are directly responsible for the bone fragility of osteogenesis imperfecta and indirectly responsible for Ehlers-Danlos syndrome symptoms, by interference with N-propeptide removal
- CIITA induction is required for interferon gamma-mediated repression of COL1A1 and COL1A2
- megakaryocytes have direct effects on osteoblastic production of factors (Col 1A1) affecting both bone formation and resorption
- prostate carcinoma cell proliferation is enhanced by the down-regulation of BRCA2 expression when interacting with COL1, a major component of the ECM at osseous metastatic sites
- We concluded that huCI is a novel substrate protein of PADIs and that citrullinated huCI is a candidate autoantigen of RA.
- Results suggest that the PCOL2 and Sp1 polymorphisms may not be the major susceptibility gene of CDH in Chinese population.
- Data suggest that CXCL12 and CXCL13 may directly modulate cellular proliferation and collagen type I in osteoarthritis patients.
- Data demonstrate a significant reduction of collagens I, II and aggrecan mRNA after the initiation of culture compared with mRNA levels in fresh tissue.
- collagen I-binding motif of PEDF is involved in its anti-angiogenic activity
- The VDR CC genotype and COLIA1 TT genotype were associated with increased hip fracture risk in Caucasian women, and this association was independent of bone density and age.
- results suggest nitric oxide has dual effects on collagen synthesis by fibroblasts: the direct stimulation of collagen synthesis due to the up-regulation of procollagen alphaI(1) mRNA, and an indirect effect through the increase of HSP47 mRNA expression
- promoter is stimulated by ERK1/2
- Carboxy-terminal telopeptide of type I collagen may be a biological markers of bone disease in multiple myeloma.
- A patient with osteogenesis imperfecta (OI) and some features of Ehlers-Danlos syndrome had Rieger's anomaly and other associated ocular abnormalities. He carried a COL1A1 mutation
- First step is presented toward full characterization of structural domains in the collagen triple helix: distinct structural consequences of N-anchor destabilization result in distinct alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.
- Coordinated down-regulation of collagen & TIMP-1 and up-regulation of MMP-1 occurs in fibroblasts exposed to proteasome inhibitors, indicating the proteasome's role in fibrosis and extracellular matrix remodeling.
- The G-T polymorphism at the Sp 1 binding site of the gene encoding alpha-1 chain of type 1 collagen is associated with increased risk of stress urinary incontinence in women.
- importance of DNA hypermethylation in the promoter region for the age-associated decrease of gene expression
- The expression of precursor proteins and mRNA of type I and type III collagens is increased in usual interstitial pneumonia and sarcoidosis, reflecting mainly active synthesis of these collagens in different areas of the lung.
- COL1A1 polymorphism is associated with low bone properties in early puberty
- Novel mutations within the COL1A1 gene are associated with osteogenesis imperfecta.
- collagen production is decreased in chronologically aged skin
- Two haplotypes defined by polymorphisms in the 5' flank of the COLIA1 regulate BMD in a bidirectional manner in women.
- Osteogenesis on vitronectin correlated with enhanced focal adhesion formation, the activation of focal adhesion kinase (FAK) and paxillin, and the diminished activation of extracellular signal-regulated kinase (ERK).
- The between-dose recovery of serum C-telopeptide of type I collagen does not negatively affect the efficacy of once-monthly ibandronate.
- Increased C-telopeptide of collagen type I is associated with skeletal invasion of breast cancer
- Data show that lysyl hydroxylase 2(long) exerts a bimodal function on collagen alpha(I) synthesis in human dermal fibroblasts.
- These data indicate that PGE(2) inhibits fibroblast activation in primary lung fibroblasts via binding of EP2 receptor and production of cyclic AMP; inhibition of collagen I proceeds via activation of PKA.
- Variants in genes for COL1A-1 (Sp1 variant) are not associated with low BMD in postmenopausal Czech Caucasian females.
- Stimulation of collagen type I secretion by TGF-beta requires a PKCdelta-Src-ERK1/2 signaling motif
- MT1-MMP is a major mediator of tumor cell invasiveness and type I collagen degradation by VHL RCC cells that express either MT1-MMP or HIF-2alpha
- A Bidirectional PASA (Bi-PASA) method, which was developed to distinguish between homozygotes and heterozygotes in one PCR reaction tested on Col1A1 Sp1 binding site polymorphisms.
- Data show that simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures.
- This study failed to demonstrate COL1A1 as a significant risk factor for high myopia.
- A four-fold increase in transcript level of Col-1 and a higher level of collagen matrix incorporation were observed for cells grown on denatured collagen versus cells grown on non-denatured collagen.
- the IL6 and TNFRSF1B genes may regulate femoral neck bone mineral density variation through interactions with the COL1A1 gene
- the presence of at least one copy of the T allele is associated with osteoporotic fractures, but not with low bone mineral density, in women from the Canary Islands
- This study is the first report that osteogenesis imperfecta is associated with the mutation Q644X of COL1A1.
- identification of susceptibility and protective haplotypes in COL1A1 that are significantly associated with otosclerosis in the Caucasian population.
- the -1997 G/T and Sp1 polymorphisms in the collagen type I alpha1 (COLIA1) gene may have a role in changes in femoral neck bone mineral density and the risk of fracture in the elderly
- TNF-alpha suppresses TGF-beta1-induced myofibroblast (fibroproliferative) phenotypic genes, for example, alpha-SMA, collagen type 1A, and fibronectin at the mRNA level.
- Disruptions of COL1A1 are associated with high myopia in Japanese.
- These data suggest that the regulation of COL1A1 gene transcription in human dermal fibroblasts involves a complex machinery that implicates at least three transcription proteins, hc-Krox, Sp1, and Sp3.
- Over one fourth of women with cervical insufficiency have a family history of cervical insufficiency and the COL1A1 intron 1SP1 and TGFbeta Arg-25-Pro polymorphisms are associated with the condition.
- Mutations were identified in nine COL1A1/COL1A2 associated with osteogenesis imperfecta type I-IV genes by scanning with DHPLC
- In psoriatic arthritis, the duration of arthritis is negatively correlated with bone mineral density values of lumbar spine and femur and serum type I collagen cross-linked C telopeptide, showing increased demineralization with duration of joint disease.
- Combined use of osteocalcin and beta-CTX could be useful in early detection of bone metastatic breast cancer which might improve the outcome of the disease.
- we found COL1A1-PDGFB rearrangements appear more prevalent in Dermatofibrosarcoma protuberans (DFSP) than previously reported.
- The region within CIITA responsible for mediating IFN-gamma-induced inhibition of collagen synthesis, is identified.
- The purpose of this study has been to investigate collagen I and III synthesis during the fibrosing stage of frozen shoulder and Dupuytren samples in comparison to normal capsule tissue.
- clinical phenotypes arising from glycine as opposed to non-glycine substitutions in the triple helix of collagen I. In particular, arg-to-cys substitutions are associated with EDS/arterial rupture but limited bone involvement
- Genomic gains of COL1A1-PDGFB were found predominantly in the DFSP component of GCF/DFSP hybrids but in none of the pure GCF
- COL1A1 was overexpressed in uterine fibroids.
- Our preliminary data supports the fact that HRT had a lower increase in bone mineral density scores following 18 months of treatment in COL1A1 s allele individuals compared with normal SS individuals.
- Chondroitin sulphate and its derived hydrolytic fragments (CSf) repress COL1A1 gene transcription through a -112/-61 bp sequence upstream the start site of transcription and imply hc-Krox and Sp1 transcription factors.
- G-->T substitution in transcription factor Sp1 binding site in the COLIA1 gene does not increase the risk of development of pelvic floor defect
- abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations
- In dermal fibroblasts, Akt has dual profibrotic effects, increasing collagen synthesis and decreasing degradation by MMP1 downregulation. Systemic sclerosis fibroblasts were more sensitive to Akt inhibition, with respect to collagen and MMP1 production.
- carboxy-terminal telopeptide of type-I collagen serum levels seem to be of prognostic significance in multiple myeloma and might be helpful to identify patients of poor prognosis
- Frequency of the s allele of the CollA1 gene was higher in Russian patients and that of the FokI FF genotype in Tartar patients. The data obtained suggest a possible role of these genes in the pathogenesis of syringomyelia.
- High glucose levels upregulate mRNA levels in dermal fibroblast cell cultures.
- results together relate the position-specific effects of Gly --> Ser mutations to the local structural stability of collagen and lend insight into the etiology of osteogenesis imperfecta.
- Polymorphisms -1997T>G and -1363C>G in COL1A1 might be associated with liver fibrogenesis.
- The results indicated that the mutations in transcription regulator sequences of COL1A1 could cause idiopathic con-genital talipes equinovarus.
- COL1A1 Sp1-binding site was not significantly associated with genital prolapse.
- bone marker carboxy-terminal telopeptide of type-1 collagen was the most powerful prognostic factor to identify high-risk patients in multiple myeloma
- Association of polymorphisms and haplotypes in the 5' region of COLIA1 gene with the risk of osteoporotic fractures in Russian women from Volga-Ural region
- Genetic factors, such as polymorphism of collagen type I, should be taken under consideration in diseases which can potentially lead to osteoporosis.
- These results suggest that hydroxylation on one chain (alpha1) can affect the structure of another chain (alpha2), and point to a critical role for the non-hydroxylation of proline residues near the collagenase cleavage site.
- The expression of COL1A1-PADI1 genes were particularly effective in distinguishing OCSS from normal tissue.
- substitution from guanine to thymine in promoter region of intron 1 underrepresented in population with cruciate ligament ruptures and shoulder dislocations
- COL1A1 missense mutations are associated with osteogenesis imperfecta
- The COLIA1 polymorphism may have a possible effect on the response to subcutaneously injected recombinant human growth hormone (hGH) in GH-deficient adults.
- A four base-pair insertion polymorphism of the COL1A1 gene is not associated with the presence of lumbar disk disease in young Greek males.
- Type I collagen provides a template of charged amino acid residues that dictates ion binding critical to subsequent nucleation events for mineral formation in vertebrate tissues.
- Missense mutation in COL1A1 is associated with infantile cortical hyperostosis.
- type I collagen expression and synthesis in fibroblasts are regulated by a keratinocyte-releasable factor(s) with an apparent molecular weight between 30 and 50 kDa
- This study did not replicate the previously reported positive association between COL1A1 and high myopia in the Japanese population
- 43 novel mutations in COL1A1 and COL1A2 are found in patients with type II osteogenesis imperfecta.
- Genotype COL1A1 is associated with arterial fluid markers in patients with COPD and bronchial asthma.
- Application of 4 bp insertion in 3'UTR of COL1A1 gene to detect "null allele" confirmed clinical diagnosis in 9 among 17 OI patients with osteogenesis imperfecta.