full name
collagen type I alpha 1 chain

synonyms
OI4, COL1A1, ENSG00000108821

HGNC
HGNC:2197

Entrez Gene
Gene:1277

ENSEMBL
ENSG00000108821

location
chr: 17
start: 48261457
stop: 48279003
strand: -

OMIM
OMIM:120150: COL1A1 (Autosomal dominant inheritance)
OMIM:114000: Caffey disease
OMIM:130060: Ehlers-Danlos syndrome, arthrochalasia type, 1
OMIM:166200: Osteogenesis imperfecta, type I
OMIM:166210: Osteogenesis imperfecta, type II
OMIM:259420: Osteogenesis imperfecta, type III
OMIM:166220: Osteogenesis imperfecta, type IV
OMIM:166710: {Bone mineral density variation QTL, osteoporosis}

transcripts
ENST00000225964.5

pathways
AGE-RAGE signaling pathway in diabetic complications [NCBI:1319988] [KEGG:hsa04933] [PUBMED:23776698] [PUBMED:15569303] [PUBMED:16894049] [PUBMED:18323529] [PUBMED:11375353] [PUBMED:21111800] [PUBMED:19404313] [PUBMED:20470857] [PUBMED:17005604] [PUBMED:23961320] [PUBMED:21261520] [PUBMED:11180401] [PUBMED:18922799] [PUBMED:21680901] [PUBMED:11684565] [PUBMED:21590515] [PUBMED:12709399] [PUBMED:20300563] [PUBMED:21440603] [PUBMED:22558488]
Amoebiasis [NCBI:167324] [KEGG:hsa05146] [PUBMED:9832261] [PUBMED:16380324] [PUBMED:14700586] [PUBMED:18725798] [PUBMED:12142490] [PUBMED:10637584] [PUBMED:20145703] [PUBMED:11378035] [PUBMED:12160867] [PUBMED:15813717] [PUBMED:19207103] [PUBMED:12660071] [PUBMED:20303955] [PUBMED:11352795] [PUBMED:14502002] [PUBMED:10756002] [PUBMED:17702556] [PUBMED:17576362]
Assembly of collagen fibrils and other multimeric structures [NCBI:1270247] [REACTOME:R-HSA-2022090] [PUBMED:8645190] [PUBMED:21182410]
Binding and Uptake of Ligands by Scavenger Receptors [NCBI:1269897] [REACTOME:R-HSA-2173782] [PUBMED:16511968] [PUBMED:15904923] [PUBMED:218198] [PUBMED:19388903] [PUBMED:19659436]
Collagen biosynthesis and modifying enzymes [NCBI:1270246] [REACTOME:R-HSA-1650814] [PUBMED:14698617] [PUBMED:17550969]
Collagen chain trimerization [NCBI:1470926] [REACTOME:R-HSA-8948216] [PUBMED:710450] [PUBMED:171650]
Collagen formation [NCBI:1270245] [REACTOME:R-HSA-1474290] [PUBMED:7574488] [PUBMED:19693541]
ECM-receptor interaction [NCBI:83068] [KEGG:hsa04512] [PUBMED:7698997] [PUBMED:15381249] [PUBMED:12796473] [PUBMED:11331578] [PUBMED:15036264] [PUBMED:12125070] [PUBMED:12736199] [PUBMED:15229478] [PUBMED:11572082] [PUBMED:10617638] [PUBMED:12845610] [PUBMED:12921709]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Focal adhesion [NCBI:83067] [KEGG:hsa04510] [PUBMED:10698680] [PUBMED:15459662] [PUBMED:14756624] [PUBMED:11573199] [PUBMED:12640026] [PUBMED:15179030] [PUBMED:15108811] [PUBMED:15053919] [PUBMED:11082269] [PUBMED:15034601] [PUBMED:12235283] [PUBMED:14519391] [PUBMED:11146675] [PUBMED:11229600] [PUBMED:15688067] [PUBMED:14744429] [PUBMED:11882383]
IL4-mediated signaling events [NCBI:137933] [Pathway Interaction Database:il4_2pathway] [PUBMED:8602263] [PUBMED:15199062] [PUBMED:7705411] [PUBMED:11160325] [PUBMED:8557643] [PUBMED:8134361] [PUBMED:1948049] [PUBMED:10843732] [PUBMED:11034397] [PUBMED:8624802] [PUBMED:14557412] [PUBMED:1997653] [PUBMED:10586089] [PUBMED:14634100] [PUBMED:17541284] [PUBMED:8124718] [PUBMED:16210622] [PUBMED:7822337] [PUBMED:11572871] [PUBMED:2147202] [PUBMED:10228008] [PUBMED:7675087] [PUBMED:12574343] [PUBMED:14603527] [PUBMED:15659391] [PUBMED:11160269] [PUBMED:7760829] [PUBMED:7973658] [PUBMED:10072514] [PUBMED:9013879] [PUBMED:8624803] [PUBMED:10490661] [PUBMED:14978013] [PUBMED:10364072] [PUBMED:12459556] [PUBMED:11714803] [PUBMED:8602264] [PUBMED:9811885] [PUBMED:12776189] [PUBMED:15728454] [PUBMED:10601358] [PUBMED:11739727] [PUBMED:11160275] [PUBMED:9852037] [PUBMED:9670964] [PUBMED:15004182] [PUBMED:8266078] [PUBMED:3144043] [PUBMED:8992992] [PUBMED:8089482] [PUBMED:9651359] [PUBMED:16810739] [PUBMED:7499365] [PUBMED:7721786] [PUBMED:9065461] [PUBMED:11241672] [PUBMED:10950967] [PUBMED:8810328] [PUBMED:8624821] [PUBMED:9110977] [PUBMED:8609418] [PUBMED:15187136] [PUBMED:9414268] [PUBMED:8916957] [PUBMED:10201892] [PUBMED:17200144] [PUBMED:8458387] [PUBMED:11544308] [PUBMED:10657944] [PUBMED:15153491] [PUBMED:7544011] [PUBMED:8266076] [PUBMED:11801631] [PUBMED:12044779] [PUBMED:8621475] [PUBMED:9697832] [PUBMED:12242343] [PUBMED:7694370] [PUBMED:9380721] [PUBMED:9541585] [PUBMED:7807002] [PUBMED:16537510] [PUBMED:8258319] [PUBMED:9799097] [PUBMED:12023955] [PUBMED:8085155]
PI3K-Akt signaling pathway [NCBI:692234] [KEGG:hsa04151] [PUBMED:12048182] [PUBMED:11357143] [PUBMED:21440011] [PUBMED:15209374] [PUBMED:12669022] [PUBMED:18842113] [PUBMED:16847462] [PUBMED:12660731] [PUBMED:17360849] [PUBMED:9838078] [PUBMED:15505410] [PUBMED:16248975] [PUBMED:12531180] [PUBMED:21779440] [PUBMED:16187290] [PUBMED:15784165] [PUBMED:21620960]
Platelet activation [NCBI:952858] [KEGG:hsa04611] [PUBMED:20002545] [PUBMED:18363565] [PUBMED:18544684] [PUBMED:18174460] [PUBMED:23106920] [PUBMED:18550847] [PUBMED:22119499] [PUBMED:19630797] [PUBMED:19286885] [PUBMED:17158345] [PUBMED:20089227] [PUBMED:22701130] [PUBMED:21071698] [PUBMED:23805129] [PUBMED:16149014] [PUBMED:18641368]
Protein digestion and absorption [NCBI:172847] [KEGG:hsa04974] [PUBMED:15772300] [PUBMED:18195088] [PUBMED:9687539] [PUBMED:18400692] [PUBMED:12583961] [PUBMED:18626068] [PUBMED:20522896] [PUBMED:14977407] [PUBMED:7937532] [PUBMED:11546643] [PUBMED:20093818] [PUBMED:16887608] [PUBMED:12237156]
Scavenging by Class A Receptors [NCBI:1269899] [REACTOME:R-HSA-3000480] [PUBMED:19120472] [PUBMED:11820786] [PUBMED:8429029] [PUBMED:2300208] [PUBMED:19388903]
VEGFR3 signaling in lymphatic endothelium [NCBI:137996] [Pathway Interaction Database:lymphangiogenesis_pathway] [PUBMED:12881528] [PUBMED:8617204] [PUBMED:10449752] [PUBMED:9247316] [PUBMED:11335727] [PUBMED:9012504] [PUBMED:9435229] [PUBMED:16076871] [PUBMED:11532940] [PUBMED:9927207] [PUBMED:11553610] [PUBMED:7675451] [PUBMED:8662748] [PUBMED:16633338]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]