Details for Gene COL1A1

GENE NAME COL1A1
CHROMOSOME 17
ENSEMBL ID None
ENTREZ ID ENSG00000108821
UNIPROT ACCESSION NUMBER P02452
GO MOLECULAR FUNCTION ['extracellular matrix structural constituent conferring tensile strength', 'extracellular matrix structural constituent', 'protease binding', 'protein binding', 'metal ion binding', 'platelet-derived growth factor binding', 'identical protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa04151; hsa04510; hsa04512; hsa04611; hsa04926; hsa04933; hsa04974; hsa05146; hsa05165; hsa05205; R-HSA-109582; R-HSA-114604; R-HSA-1280218; R-HSA-1442490; R-HSA-1474228; R-HSA-1474244; R-HSA-1474290; R-HSA-162582; R-HSA-1650814; R-HSA-168256; R-HSA-198933; R-HSA-2022090; R-HSA-202733; R-HSA-212436; R-HSA-216083; R-HSA-2173782; R-HSA-2214320; R-HSA-2243919; R-HSA-3000170; R-HSA-3000171; R-HSA-3000178; R-HSA-3000480; R-HSA-430116; R-HSA-5653656; R-HSA-6806834; R-HSA-73857; R-HSA-74160; R-HSA-75892; R-HSA-76002; R-HSA-76009; R-HSA-8874081; R-HSA-8875878; R-HSA-8878166; R-HSA-8940973; R-HSA-8941326; R-HSA-8948216; R-HSA-9006934
1 combination linked to COL1A1 OLI1562
1 variant linked to COL1A1 COL1A1:c.739C>T, p.Pro247Ser
1 disease linked to COL1A1 Syndrome with 46,XY disorder of sex development
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