Recombinant Human Collagen alpha-1 (I) chain (COL1A1), Truncated

Uniprot Id

P02452

Target Species

Human

Target Name

COL1A1

Target Full Name

Collagen alpha-1(I) chain

Target Function

Type I collagen is a member of group I collagen (fibrillar forming collagen).

Target Involvement

Caffey disease (CAFFD); Ehlers-Danlos syndrome, classic type (EDS); Ehlers-Danlos syndrome 7A (EDS7A); Osteogenesis imperfecta 1 (OI1); Osteogenesis imperfecta 2 (OI2); Osteogenesis imperfecta 3 (OI3); Osteogenesis imperfecta 4 (OI4); Osteoporosis (OSTEOP)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Fibrillar collagen family

Target Tissue Specificity

Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.

Target Research Area

Signal Transduction

Target Synonyms

Alpha-1 type I collagen

Target Background

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.