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FLASH GENE

Symbol

COL1A1

contributors: mct/npt/shn - updated : 14-04-2015

HGNC name	collagen, type I, alpha 1
HGNC id	2197

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EDS7A1 , OI1A , OI2A , OI3A , OI4A , EDS1C , ICHO , OIEDS

related resource

Collagen Type I & III

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   translocation     with PDGFB t(17;22) (q22;q13) in dermatofibrosarcoma protuberans and in giant cell fibroblastoma constitutional   deletion     of GPATCH8 and COL1A1 in mild osteogenesis imperfecta with hyperuricemia (

Susceptibility

to reduced bone density, osteoporosis (senile, postmenopausal) to otosclerosis to myopia (MYP5) to osteoporosis

Variant & Polymorphism SNP , other	polymorphic binding site sp1
	SNP in the regulatory regions are associated with otosclerosis
	three common polymorphisms in the 5prime flank of COLIA1 interact to regulate COL1A1 transcription by affecting binding affinity of several critical regulatory factors including NMP4, Osterix and Sp1(Jin 2009)
	three SNPs increasing the risk of myopia

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	mice expressing a partially deleted COL1A1 gene have bones significantly shorter in length, a decrease in wet weight, mineral content and collagen content (Pereira et al, 1993)
	mouse Aga2, with a dominant frameshift mutation in the Col1a1 C-propeptide domain, have OI phenotypic changes and endoplasmatic reticulum (ER) stress-related apoptosis in bone tissue
	mice expressing a mutated COL1A1 gene exhibit phenotypic variability and incomplete penetrance of Osteogenesis imperfecta (Pereira et al, 1994)
	transgenic mice with a targeted mutation in COL1A1 gene display ocular hypertension (Aihara et al, 2003)