Testing Data
Rabbit Collagen 1, alpha 1 telopeptide Polyclonal Antibody | anti-COL1A1 antibody
Anti-Collagen I alpha1 Telopeptide Sequence
WB: 1:1000
IHC: 1:100
Testing Data
Testing Data
• Cabral WA, Makareeva E, Colige A, Letocha AD, Ty JM, Yeowell HN, Pals G, Leikin S, Marini JC. (2005) Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem. 2005 May 13;280(19):19259-69.
NCBI and Uniprot Product Information
NCBI Description
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. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
Uniprot Description
Function: Type I collagen is a member of group I collagen (fibrillar forming collagen).
Subunit structure: Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2
By similarity. Interacts with TRAM2. Ref.33
Subcellular location: Secreted › extracellular space › extracellular matrix
By similarity.
Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
Domain: The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function
By similarity.
Post-translational modification: Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains.O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.
Involvement in disease: Caffey disease (CAFFD) [MIM:114000]: Characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.89 Ref.90 Ref.91Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.88 Ref.89 Ref.90 Ref.97Ehlers-Danlos syndrome 7A (EDS7A) [MIM:130060]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.89 Ref.90Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.38 Ref.44 Ref.55 Ref.59 Ref.62 Ref.68 Ref.89 Ref.90 Ref.93 Ref.94 Ref.96 Ref.99 Ref.101Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.22 Ref.25 Ref.34 Ref.35 Ref.36 Ref.37 Ref.39 Ref.41 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.51 Ref.52 Ref.54 Ref.56 Ref.60 Ref.61 Ref.63 Ref.64 Ref.67 Ref.69 Ref.70 Ref.71 Ref.73 Ref.74 Ref.76 Ref.79 Ref.83 Ref.85 Ref.89 Ref.90 Ref.94 Ref.95 Ref.101 Ref.102Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.23 Ref.42 Ref.44 Ref.52 Ref.57 Ref.65 Ref.70 Ref.71 Ref.75 Ref.78 Ref.80 Ref.82 Ref.87 Ref.89 Ref.90 Ref.92 Ref.101Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.40 Ref.53 Ref.57 Ref.66 Ref.70 Ref.72 Ref.77 Ref.84 Ref.89 Ref.90 Ref.92 Ref.94 Ref.99Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.81 Ref.86 Ref.89 Ref.90A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF. Ref.89 Ref.90
Sequence similarities: Belongs to the fibrillar collagen family.Contains 1 fibrillar collagen NC1 domain.Contains 1 VWFC domain.
Sequence caution: The sequence BAD92834.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.
Research Articles on COL1A1
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Product Notes
The COL1A1 col1a1 (Catalog #AAA502153) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Anti-Collagen I alpha1 Telopeptide Sequence reacts with Human, mouse, sheep and may cross-react with other species as described in the data sheet. AAA Biotech's Collagen 1, alpha 1 telopeptide can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB), Immunohistochemistry (IHC). Quality Control: Western blots performed on each lot. WB: 1:1000 IHC: 1:100. Researchers should empirically determine the suitability of the COL1A1 col1a1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "Collagen 1, alpha 1 telopeptide, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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