NP_000079.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
138,941 Da
NCBI Official Full Name
collagen alpha-1(I) chain preproprotein
NCBI Official Synonym Full Names
collagen type I alpha 1 chain
NCBI Official Synonym Symbols
OI1; OI2; OI3; OI4; EDSC; EDSARTH1 [Similar Products]
NCBI Protein Information
collagen alpha-1(I) chain
UniProt Protein Name
Collagen alpha-1(I) chain
UniProt Synonym Protein Names
Alpha-1 type I collagen
NCBI Summary for COL1A1
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 Comments for COL1A1
Type I collagen is a member of group I collagen (fibrillar forming collagen).
Research Articles on COL1A1
Precautions
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Pathways associated with anti-COL1A1 antibody
Diseases associated with anti-COL1A1 antibody
Organs/Tissues associated with anti-COL1A1 antibody
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