COL1A1
entrez
1277
canonical
uniprot
P02452
canonical
ensembl
ENSG00000108821
resolver
ensp
ENSP00000225964
resolver
ensp
ENSP00000531394
resolver
enst
ENST00000225964
resolver
genesymbol
COL1A1
resolver
hgnc
HGNC:2197
resolver
uniprot
O76045
resolver
uniprot
P78441
resolver
uniprot
Q13896
resolver
uniprot
Q13902
resolver
uniprot
Q13903
resolver
uniprot
Q14037
resolver
uniprot
Q14992
resolver
uniprot
Q15176
resolver
uniprot
Q15201
resolver
uniprot
Q16050
resolver
uniprot
Q59F64
resolver
uniprot
Q7KZ30
resolver
uniprot
Q7KZ34
resolver
uniprot
Q8IVI5
resolver
uniprot
Q8N473
resolver
uniprot
Q9UML6
resolver
uniprot
Q9UMM7
resolver
uniprot_entry
CO1A1_HUMAN
resolver
uniprot_sec
O76045
resolver
uniprot_sec
P78441
resolver
uniprot_sec
Q13896
resolver
uniprot_sec
Q13902
resolver
uniprot_sec
Q13903
resolver
uniprot_sec
Q14037
resolver
uniprot_sec
Q14992
resolver
uniprot_sec
Q15176
resolver
uniprot_sec
Q15201
resolver
uniprot_sec
Q16050
resolver
uniprot_sec
Q59F64
resolver
uniprot_sec
Q7KZ30
resolver
uniprot_sec
Q7KZ34
resolver
uniprot_sec
Q8IVI5
resolver
uniprot_sec
Q8N473
resolver
uniprot_sec
Q9UML6
resolver
uniprot_sec
Q9UMM7
resolver
amino_acid_sequence
MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGPQGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGSQGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGPPGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGPAGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPAGPVGPVGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGPRGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSFLPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCRDLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKDKRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQTGNLKKALLLQGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPIIDVAPLDVGAPDQEFGFDVGPVCFL
uniprot
proteins
disease_involvement
DISEASE: Caffey disease (CAFYD) [MIM:114000]: An autosomal dominant disorder characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age. {ECO:0000269|PubMed:15864348}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ehlers-Danlos syndrome, classic type, 1 (EDSCL1) [MIM:130000]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL1 inheritance is autosomal dominant. {ECO:0000269|PubMed:10739762, ECO:0000269|PubMed:17211858}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Ehlers-Danlos syndrome, arthrochalasia type, 1 (EDSARTH1) [MIM:130060]: A form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH1 is an autosomal dominant form characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement. {ECO:0000269|PubMed:18409203, ECO:0000269|PubMed:9295084}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by bone low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. {ECO:0000269|PubMed:1634225, ECO:0000269|PubMed:16638323, ECO:0000269|PubMed:16705691, ECO:0000269|PubMed:16786509, ECO:0000269|PubMed:17078022, ECO:0000269|PubMed:1718984, ECO:0000269|PubMed:1737847, ECO:0000269|PubMed:17875077, ECO:0000269|PubMed:18670065, ECO:0000269|PubMed:24682174, ECO:0000269|PubMed:27519266, ECO:0000269|PubMed:2794057, ECO:0000269|PubMed:3244312, ECO:0000269|PubMed:8223589}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. {ECO:0000269|PubMed:10627137, ECO:0000269|PubMed:1445258, ECO:0000269|PubMed:1460046, ECO:0000269|PubMed:1460047, ECO:0000269|PubMed:1511982, ECO:0000269|PubMed:1613761, ECO:0000269|PubMed:16566045, ECO:0000269|PubMed:16786509, ECO:0000269|PubMed:17078022, ECO:0000269|PubMed:18670065, ECO:0000269|PubMed:1874719, ECO:0000269|PubMed:18996919, ECO:0000269|PubMed:1939261, ECO:0000269|PubMed:1953667, ECO:0000269|PubMed:2035536, ECO:0000269|PubMed:2036375, ECO:0000269|PubMed:2037280, ECO:0000269|PubMed:2116413, ECO:0000269|PubMed:21239989, ECO:0000269|PubMed:2211725, ECO:0000269|PubMed:2339700, ECO:0000269|PubMed:2470760, ECO:0000269|PubMed:25958000, ECO:0000269|PubMed:2777764, ECO:0000269|PubMed:2794057, ECO:0000269|PubMed:2913053, ECO:0000269|PubMed:3016737, ECO:0000269|PubMed:3108247, ECO:0000269|PubMed:3403550, ECO:0000269|PubMed:3667599, ECO:0000269|PubMed:7487936, ECO:0000269|PubMed:7520724, ECO:0000269|PubMed:7679635, ECO:0000269|PubMed:7691343, ECO:0000269|PubMed:7816518, ECO:0000269|PubMed:7961597, ECO:0000269|PubMed:8100209, ECO:0000269|PubMed:8349697, ECO:0000269|PubMed:8349698, ECO:0000269|PubMed:8364588, ECO:0000269|PubMed:8456808, ECO:0000269|PubMed:8786074, ECO:0000269|PubMed:8799376, ECO:0000269|PubMed:9143923, ECO:0000269|Ref.49, ECO:0000269|Ref.52}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. {ECO:0000269|PubMed:10408781, ECO:0000269|PubMed:1445258, ECO:0000269|PubMed:16879195, ECO:0000269|PubMed:17078022, ECO:0000269|PubMed:1770532, ECO:0000269|PubMed:18670065, ECO:0000269|PubMed:2037280, ECO:0000269|PubMed:25086671, ECO:0000269|PubMed:2511192, ECO:0000269|PubMed:27519266, ECO:0000269|PubMed:2794057, ECO:0000269|PubMed:7691343, ECO:0000269|PubMed:7881420, ECO:0000269|PubMed:8019571, ECO:0000269|PubMed:8364588, ECO:0000269|PubMed:8456809, ECO:0000269|PubMed:8669434, ECO:0000269|PubMed:8723681, ECO:0000269|PubMed:9101304}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. {ECO:0000269|PubMed:1445258, ECO:0000269|PubMed:16786509, ECO:0000269|PubMed:16879195, ECO:0000269|PubMed:1770532, ECO:0000269|PubMed:17875077, ECO:0000269|PubMed:1988452, ECO:0000269|PubMed:2745420, ECO:0000269|PubMed:27509835, ECO:0000269|PubMed:27519266, ECO:0000269|PubMed:7691343, ECO:0000269|PubMed:7982948, ECO:0000269|PubMed:8094076, ECO:0000269|PubMed:8339541, ECO:0000269|PubMed:9600458}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115]: An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility. {ECO:0000269|PubMed:15728585, ECO:0000269|PubMed:17206620, ECO:0000269|PubMed:23692737}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. {ECO:0000269|PubMed:8841196, ECO:0000269|PubMed:9535665}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF.
uniprot
proteins
function
FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen).
uniprot
proteins
mass_dalton
138911
uniprot
proteins
post_translational_modification
PTM: Contains mostly 4-hydroxyproline. Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. {ECO:0000269|PubMed:4319110}.; PTM: Contains 3-hydroxyproline at a few sites. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline. {ECO:0000250|UniProtKB:P11087}.; PTM: Lysine residues at the third position of the tripeptide repeating unit (G-X-Y) are 5-hydroxylated in some or all of the chains. {ECO:0000269|PubMed:4319110}.; PTM: O-glycosylated on hydroxylated lysine residues. The O-linked glycan consists of a Glc-Gal disaccharide. {ECO:0000269|PubMed:4319110}.
uniprot
proteins
protein_family
Fibrillar collagen family
uniprot
proteins
pubmed
10408781
uniprot
proteins
pubmed
10627137
uniprot
proteins
pubmed
10739762
uniprot
proteins
pubmed
12660034
uniprot
proteins
pubmed
1445258
uniprot
proteins
pubmed
1460046
uniprot
proteins
pubmed
1460047
uniprot
proteins
pubmed
14749390
uniprot
proteins
pubmed
1511982
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15728585
uniprot
proteins
pubmed
15864348
uniprot
proteins
pubmed
1613761
uniprot
proteins
pubmed
1634225
uniprot
proteins
pubmed
16566045
uniprot
proteins
pubmed
16638323
uniprot
proteins
pubmed
16705691
uniprot
proteins
pubmed
16786509
uniprot
proteins
pubmed
16879195
uniprot
proteins
pubmed
17078022
uniprot
proteins
pubmed
1718984
uniprot
proteins
pubmed
17206620
uniprot
proteins
pubmed
17211858
uniprot
proteins
pubmed
1737847
uniprot
proteins
pubmed
1770532
uniprot
proteins
pubmed
17875077
uniprot
proteins
pubmed
18272325
uniprot
proteins
pubmed
18409203
uniprot
proteins
pubmed
18670065
uniprot
proteins
pubmed
1870989
uniprot
proteins
pubmed
1874719
uniprot
proteins
pubmed
1895312
uniprot
proteins
pubmed
18996919
uniprot
proteins
pubmed
1939261
uniprot
proteins
pubmed
1953667
uniprot
proteins
pubmed
1988452
uniprot
proteins
pubmed
1995349
uniprot
proteins
pubmed
2010058
uniprot
proteins
pubmed
2035536
uniprot
proteins
pubmed
2036375
uniprot
proteins
pubmed
2037280
uniprot
proteins
pubmed
2116413
uniprot
proteins
pubmed
21239989
uniprot
proteins
pubmed
21344539
uniprot
proteins
pubmed
2169412
uniprot
proteins
pubmed
2211725
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
2295701
uniprot
proteins
pubmed
2318855
uniprot
proteins
pubmed
2339700
uniprot
proteins
pubmed
23692737
uniprot
proteins
pubmed
2374517
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24682174
uniprot
proteins
pubmed
2470760
uniprot
proteins
pubmed
25086671
uniprot
proteins
pubmed
2511192
uniprot
proteins
pubmed
25958000
uniprot
proteins
pubmed
2745420
uniprot
proteins
pubmed
27509835
uniprot
proteins
pubmed
27519266
uniprot
proteins
pubmed
2767050
uniprot
proteins
pubmed
2777764
uniprot
proteins
pubmed
2794057
uniprot
proteins
pubmed
2822714
uniprot
proteins
pubmed
2843432
uniprot
proteins
pubmed
2857713
uniprot
proteins
pubmed
2913053
uniprot
proteins
pubmed
2981843
uniprot
proteins
pubmed
3016737
uniprot
proteins
pubmed
3108247
uniprot
proteins
pubmed
3170557
uniprot
proteins
pubmed
3178743
uniprot
proteins
pubmed
3244312
uniprot
proteins
pubmed
3340531
uniprot
proteins
pubmed
3403550
uniprot
proteins
pubmed
3480516
uniprot
proteins
pubmed
3667599
uniprot
proteins
pubmed
3857621
uniprot
proteins
pubmed
4319110
uniprot
proteins
pubmed
5529814
uniprot
proteins
pubmed
6183642
uniprot
proteins
pubmed
6462220
uniprot
proteins
pubmed
6689127
uniprot
proteins
pubmed
7487936
uniprot
proteins
pubmed
7520724
uniprot
proteins
pubmed
7679635
uniprot
proteins
pubmed
7691343
uniprot
proteins
pubmed
7816518
uniprot
proteins
pubmed
7881420
uniprot
proteins
pubmed
7961597
uniprot
proteins
pubmed
7982948
uniprot
proteins
pubmed
8019571
uniprot
proteins
pubmed
8094076
uniprot
proteins
pubmed
8100209
uniprot
proteins
pubmed
8223589
uniprot
proteins
pubmed
8339541
uniprot
proteins
pubmed
8349697
uniprot
proteins
pubmed
8349698
uniprot
proteins
pubmed
8364588
uniprot
proteins
pubmed
8456808
uniprot
proteins
pubmed
8456809
uniprot
proteins
pubmed
8669434
uniprot
proteins
pubmed
8723681
uniprot
proteins
pubmed
8786074
uniprot
proteins
pubmed
8799376
uniprot
proteins
pubmed
8841196
uniprot
proteins
pubmed
8988177
uniprot
proteins
pubmed
9101290
uniprot
proteins
pubmed
9101304
uniprot
proteins
pubmed
9143923
uniprot
proteins
pubmed
9295084
uniprot
proteins
pubmed
9443882
uniprot
proteins
pubmed
9535665
uniprot
proteins
pubmed
9600458
uniprot
proteins
sequence_length
1464
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}.
uniprot
proteins