CO1A1_HUMAN
Source: PM23856902Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: COL1A1
Protein names and data: CO1A1_HUMAN , Collagen alpha-1(I) chain , Alpha-1 type I collagen; Flags: Precursor Lenght: 1464 a.a.
Mass: 138941 Da
fasta formatted sequence
Function: Type I collagen is a member of group I collagen (fibrillar forming collagen).
Disease: ( OMIM: 114000 120150 130000 130060 166200 166210 166220 166710 259420 607907 ) Caffey disease (CAFFD) [MIM:114000]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry. Ehlers-Danlos syndrome 7A (EDS7A) [MIM:130060]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Note=The disease is caused by mutations affecting the gene represented in this entry. Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder 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. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this entry. Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder 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. Note=The disease is caused by mutations affecting the gene represented in this entry. 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. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Note=A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF.
Cellular location: Secreted, extracellular space, extracellular matrix (By similarity).
Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
Genetic variants
22 - 22 G -> R (in OI2). VAR_063290146 - 146 P -> T (in a patient with osteogenesis imperfecta type 2; rare variant of unknown pathological significance). VAR_063291
194 - 194 G -> R (in OI1). VAR_063292
197 - 197 G -> C (in dbSNP:rs8179178). VAR_001642 8179178
197 - 197 G -> R (in OI4). VAR_063293
200 - 200 G -> V (in OI1; patient diagnosed with OI1/OI4). VAR_063294
203 - 203 G -> V (in OI3). VAR_063295
205 - 205 P -> A (in dbSNP:rs72667032). VAR_001643 72667032
221 - 221 G -> C (in OI1; mild form). VAR_001644
224 - 224 G -> C (in OI1; mild phenotype). VAR_001645
242 - 242 G -> D (in OI). VAR_063296
257 - 257 G -> R (in OI4). VAR_063297
263 - 263 G -> R (in OI1; mild form). VAR_001646
263 - 263 G -> V (in OI1; mild form). VAR_001647
266 - 266 G -> E (in OI1). VAR_063298
272 - 272 G -> C (in OI1). VAR_001648
275 - 275 G -> D (in OI2). VAR_001649
287 - 287 G -> S (in OI1). VAR_063299
288 - 288 E -> K (in a patient with osteogenesis imperfecta type 1 carrying also mutation Glu-1219; unknown pathological significance). VAR_063300
288 - 288 E -> V (in a patient with osteogenesis imperfecta type 2; rare variant of unknown pathological significance). VAR_063301
312 - 312 R -> C (in EDS1). VAR_013579
320 - 320 G -> V (in OI1). VAR_063302
332 - 332 G -> R (in OI3; mild to moderate form). VAR_001650
338 - 338 G -> C (in OI4). VAR_063303
349 - 349 V -> F (in OI1). VAR_063304
350 - 350 G -> R (in OI3). VAR_001651
353 - 353 G -> C (in OI4). VAR_001652
353 - 353 G -> D (in OI2). VAR_063305
353 - 353 G -> S (in OI4). VAR_063306
356 - 356 G -> C (in OI4; mild form). VAR_001653
368 - 368 G -> V (in OI2). VAR_063307
383 - 383 G -> C (in OI4). VAR_001654
389 - 389 G -> C (in OI; moderate form). VAR_001655
389 - 389 G -> R (in OI2). VAR_001656
390 - 390 A -> T (in a patient with osteogenesis imperfecta type 2; rare variant of unknown pathological significance; dbSNP:rs116794104). VAR_063308 116794104
398 - 398 G -> A (in OI4). VAR_001657
398 - 398 G -> D (in OI2). VAR_001658
401 - 401 G -> C (in OI4). VAR_001659
404 - 404 G -> C (in OI; moderate form). VAR_001660
422 - 422 G -> C (in OI2). VAR_001661
425 - 425 G -> S (in OI2; lethal form). VAR_001662
434 - 434 G -> V (in OI2). VAR_001663
455 - 455 G -> D (in OI2). VAR_063309
470 - 470 G -> V (in OI2). VAR_063310
476 - 476 G -> R (in OI2; dbSNP:rs57377812). VAR_001664 57377812
509 - 509 G -> V (in OI2). VAR_063311
527 - 527 G -> C (in OI4). VAR_001665
530 - 530 G -> S (in OI2, OI3 and OI4; mild to lethal form). VAR_001666
533 - 533 G -> D (in OI2). VAR_001667
548 - 548 G -> A (in OI2). VAR_063312
555 - 555 P -> R (in OI1). VAR_063313
560 - 560 G -> C (in OI4). VAR_001669
560 - 560 G -> R (in OI2). VAR_001670
560 - 560 G -> S (in OI4). VAR_001668
564 - 564 R -> H (in dbSNP:rs1800211). VAR_001671 1800211
569 - 569 G -> R (in OI2). VAR_001672
574 - 574 R -> C (in a patient with isolated osteopenia and vascular rupture). VAR_063314
581 - 581 G -> R (in OI2). VAR_063315
593 - 593 G -> C (in OI3 and OI4). VAR_001673
593 - 593 G -> S (in OI2 and OI3; moderate to lethal form). VAR_001674
602 - 602 G -> R (in OI2). VAR_063316
605 - 605 G -> D (in OI2). VAR_063317
614 - 614 G -> R (in OI2). VAR_063318
647 - 647 G -> S (in OI1). VAR_063319
656 - 656 G -> S (in OI2). VAR_001676
683 - 683 G -> S (in OI4). VAR_063320
701 - 701 G -> C (in OI4). VAR_001677
704 - 704 G -> C (in OI3). VAR_001678
719 - 719 G -> D (in OI2). VAR_001679
719 - 719 G -> S (in OI3). VAR_001680
722 - 722 G -> S (in OI1). VAR_063321
728 - 728 G -> R (in OI2). VAR_001681
734 - 734 G -> V (in OI2). VAR_063322
737 - 737 G -> D (in OI2). VAR_001682
740 - 740 G -> R (in OI2). VAR_063323
743 - 743 G -> S (in OI2). VAR_001683
743 - 743 G -> V (in OI2). VAR_001684
764 - 764 G -> V (in OI2). VAR_001685
767 - 767 G -> S (in OI3; severe). VAR_001686
776 - 776 G -> S (in OI2). VAR_001687
809 - 809 G -> S (in OI2). VAR_001688
815 - 815 G -> V (in OI2). VAR_001689
821 - 821 G -> S (in OI3). VAR_001690
823 - 823 P -> A (in dbSNP:rs1800214). VAR_001691 1800214
824 - 824 G -> R (in OI2). VAR_063324
833 - 833 G -> D (in OI2). VAR_063325
839 - 839 G -> S (in OI2; mild to moderate form). VAR_001692
842 - 842 G -> R (in OI2). VAR_001693
845 - 845 G -> R (in OI2). VAR_001694
848 - 848 G -> R (in OI2). VAR_063342
851 - 851 G -> D (in OI2). VAR_001695
855 - 855 N -> H (in a patient with osteogenesis imperfecta type 2; rare variant of unknown pathological significance). VAR_063326
866 - 866 G -> S (in OI3 and OI2). VAR_008118
869 - 869 G -> C (in OI2). VAR_001696
875 - 875 G -> S (in OI2). VAR_063327
884 - 884 G -> S (in OI2 and OI3; extremely severe form). VAR_001697
896 - 896 G -> C (in OI2). VAR_001698
896 - 896 G -> D (in OI2). VAR_063328
906 - 906 G -> S (in a patient with mild osteogenesis imperfecta; uncertain pathological significance). VAR_063329
926 - 926 G -> C (in OI2). VAR_001699
947 - 947 G -> C (in OI2). VAR_063330
977 - 977 G -> D (in OI2). VAR_063331
980 - 980 G -> V (in OI2). VAR_001700
1001 - 1001 G -> C (in OI2). VAR_063332
1010 - 1010 G -> S (in OI4). VAR_001701
1014 - 1014 R -> C (in CAFFD). VAR_033097
1019 - 1019 G -> A (in dbSNP:rs1135348). VAR_030013 1135348
1022 - 1022 G -> S (in OI3; severe form). VAR_001702
1022 - 1022 G -> V (in OI2). VAR_001703
1025 - 1025 G -> R (in OI2). VAR_001704
1040 - 1040 G -> S (in OI2 and OI3; moderate to lethal form). VAR_001705
1043 - 1043 G -> S (in OI2). VAR_001706
1046 - 1048 Missing (in OI2). VAR_001707
1049 - 1049 G -> S (in OI3). VAR_001708
1052 - 1052 G -> GAPG (in OI2). VAR_063333
1055 - 1055 G -> D (in OI2). VAR_063334
1058 - 1058 G -> S (in OI3 and OI4; mild form). VAR_001709
1061 - 1061 G -> D (in OI2). VAR_001710
1061 - 1061 G -> S (in OI4). VAR_001711
1066 - 1066 R -> C (in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; pathogenic mutation; affects dimer formation, helix stability and organization of collagen fibrils). VAR_063335
1075 - 1075 T -> A (in dbSNP:rs1800215). VAR_001712 1800215
1076 - 1076 G -> S (in OI3; severe form). VAR_001713
1079 - 1079 G -> S (in OI1 and OI2; mild to moderate form). VAR_001714
1082 - 1082 G -> C (in OI2). VAR_001715
1088 - 1088 G -> A (in OI2). VAR_001716
1091 - 1091 G -> S (in OI2). VAR_001717
1093 - 1093 R -> C (in a patient with isolated osteopenia and vascular rupture). VAR_063336
1094 - 1094 G -> S (in OI2). VAR_063337
1100 - 1100 G -> D (in OI2). VAR_001718
1106 - 1106 G -> A (in OI2). VAR_001719
1124 - 1124 G -> C (in OI2). VAR_001720
1141 - 1141 R -> Q (in dbSNP:rs41316713). VAR_033778 41316713
1142 - 1142 G -> S (in OI2). VAR_001721
1151 - 1151 G -> S (in OI3). VAR_001722
1151 - 1151 G -> V (in OI2). VAR_001723
1154 - 1154 G -> R (in OI2). VAR_001724
1157 - 1157 G -> D (in OI1). VAR_063338
1166 - 1166 G -> C (in OI2). VAR_001725
1172 - 1172 G -> D (in OI2). VAR_001726
1177 - 1177 V -> I (in dbSNP:rs41316719). VAR_033779 41316719
1181 - 1181 G -> S (in OI2). VAR_001727
1184 - 1184 G -> V (in OI2). VAR_001728
1187 - 1187 G -> S (in OI2 and OI3; extremely severe form). VAR_001729
1187 - 1187 G -> V (in OI2). VAR_001730
1195 - 1195 G -> C (in OI1; mild form). VAR_001731
1219 - 1219 D -> E (in OI1). VAR_063339
1219 - 1219 D -> N (in a patient with mild osteogenesis imperfecta associated with increased bone mineral density; results in defective type I procollagen processing; incorporation of the immature procollagen into the matrix leads to increased bone matrix mineralization and altered collagen fibril structure). VAR_066385
1251 - 1251 S -> T (in dbSNP:rs3205325). VAR_030014 3205325
1277 - 1277 D -> H (in OI2; impaired pro-alpha chain association). VAR_001732
1312 - 1312 W -> C (in OI2). VAR_001733
1337 - 1338 Missing (in OI2; impaired pro-alpha chain association). VAR_001734
1356 - 1356 R -> H. VAR_063340
1388 - 1388 L -> R (in OI2; impaired pro-alpha chain association). VAR_001735
1391 - 1391 Q -> K (in dbSNP:rs2586486). VAR_030015 2586486
1413 - 1413 D -> N (in OI2). VAR_063341
1430 - 1430 K -> N (in dbSNP:rs1059454). VAR_033780 1059454
1431 - 1431 T -> P (in dbSNP:rs1059454). VAR_033781 1059454
1434 - 1434 T -> S (in dbSNP:rs1800220). VAR_001736 1800220
1438 - 1438 P -> R (in dbSNP:rs17857117). VAR_030016 17857117
1460 - 1460 P -> H (in dbSNP:rs17853657). VAR_030017 17853657
1464 - 1464 L -> P (in OI3). VAR_001737
Database cross-references
UniProt: P02452Ensembl: ENST00000225964
MIM: 114000
MIM: 120150
MIM: 130000
MIM: 130060
MIM: 166200
MIM: 166210
MIM: 166220
MIM: 166710
MIM: 259420
MIM: 607907
neXtProt: NX_P02452
Antibodypedia: P02452 (may not find the protein thus also not any antibody)
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