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P02452

- CO1A1_HUMAN

UniProt

P02452 - CO1A1_HUMAN

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Protein

Collagen alpha-1(I) chain

Gene

COL1A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Type I collagen is a member of group I collagen (fibrillar forming collagen).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei161 – 1622Cleavage; by procollagen N-endopeptidase
Sitei953 – 9542Cleavage; by collagenaseBy similarity
Sitei1218 – 12192Cleavage; by procollagen C-endopeptidase
Metal bindingi1277 – 12771CalciumBy similarity
Metal bindingi1279 – 12791CalciumBy similarity
Metal bindingi1280 – 12801Calcium; via carbonyl oxygenBy similarity
Metal bindingi1282 – 12821Calcium; via carbonyl oxygenBy similarity
Metal bindingi1285 – 12851CalciumBy similarity

GO - Molecular functioni

  1. extracellular matrix structural constituent Source: Ensembl
  2. identical protein binding Source: UniProtKB
  3. metal ion binding Source: UniProtKB-KW
  4. platelet-derived growth factor binding Source: MGI

GO - Biological processi

  1. blood coagulation Source: Reactome
  2. blood vessel development Source: UniProtKB
  3. bone trabecula formation Source: Ensembl
  4. cartilage development involved in endochondral bone morphogenesis Source: Ensembl
  5. cellular response to amino acid stimulus Source: Ensembl
  6. cellular response to mechanical stimulus Source: Ensembl
  7. cellular response to retinoic acid Source: Ensembl
  8. cellular response to transforming growth factor beta stimulus Source: Ensembl
  9. collagen biosynthetic process Source: UniProtKB
  10. collagen catabolic process Source: Reactome
  11. collagen fibril organization Source: UniProtKB
  12. embryonic skeletal system development Source: UniProtKB
  13. endochondral ossification Source: Ensembl
  14. extracellular matrix disassembly Source: Reactome
  15. extracellular matrix organization Source: Reactome
  16. face morphogenesis Source: Ensembl
  17. intramembranous ossification Source: Ensembl
  18. leukocyte migration Source: Reactome
  19. negative regulation of cell-substrate adhesion Source: Ensembl
  20. osteoblast differentiation Source: Ensembl
  21. platelet activation Source: Reactome
  22. positive regulation of canonical Wnt signaling pathway Source: UniProtKB
  23. positive regulation of cell migration Source: UniProtKB
  24. positive regulation of epithelial to mesenchymal transition Source: UniProtKB
  25. positive regulation of transcription, DNA-templated Source: UniProtKB
  26. protein heterotrimerization Source: Ensembl
  27. protein localization to nucleus Source: UniProtKB
  28. protein transport Source: Ensembl
  29. response to cAMP Source: Ensembl
  30. response to corticosteroid Source: Ensembl
  31. response to estradiol Source: Ensembl
  32. response to hydrogen peroxide Source: Ensembl
  33. response to nutrient Source: Ensembl
  34. response to peptide hormone Source: Ensembl
  35. sensory perception of sound Source: UniProtKB
  36. skeletal system development Source: UniProtKB
  37. skin morphogenesis Source: UniProtKB
  38. tooth mineralization Source: UniProtKB
  39. visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_118779. Extracellular matrix organization.
REACT_12051. Cell surface interactions at the vascular wall.
REACT_121139. Collagen biosynthesis and modifying enzymes.
REACT_1230. Platelet Adhesion to exposed collagen.
REACT_13552. Integrin cell surface interactions.
REACT_150180. Assembly of collagen fibrils and other multimeric structures.
REACT_150206. Crosslinking of collagen fibrils.
REACT_150268. Anchoring fibril formation.
REACT_150401. Collagen degradation.
REACT_163699. Scavenging by Class A Receptors.
REACT_163874. Non-integrin membrane-ECM interactions.
REACT_163906. ECM proteoglycans.
REACT_163942. Syndecan interactions.
REACT_1695. GPVI-mediated activation cascade.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(I) chain
Alternative name(s):
Alpha-1 type I collagen
Gene namesi
Name:COL1A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:2197. COL1A1.

Subcellular locationi

Secretedextracellular spaceextracellular matrix PROSITE-ProRule annotation

GO - Cellular componenti

  1. collagen type I trimer Source: UniProtKB
  2. endoplasmic reticulum lumen Source: Reactome
  3. extracellular matrix Source: UniProtKB
  4. extracellular region Source: Reactome
  5. extracellular space Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1014 – 10141R → C in CAFFD. 1 Publication
VAR_033097
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti312 – 3121R → C in EDS1. 2 Publications
VAR_013579
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.11 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti194 – 1941G → R in OI1. 1 Publication
VAR_063292
Natural varianti200 – 2001G → V in OI1; patient diagnosed with OI1/OI4. 1 Publication
VAR_063294
Natural varianti221 – 2211G → C in OI1; mild form. 1 Publication
VAR_001644
Natural varianti224 – 2241G → C in OI1; mild phenotype.
VAR_001645
Natural varianti263 – 2631G → R in OI1; mild form. 1 Publication
VAR_001646
Natural varianti263 – 2631G → V in OI1; mild form. 1 Publication
VAR_001647
Natural varianti266 – 2661G → E in OI1. 1 Publication
VAR_063298
Natural varianti272 – 2721G → C in OI1. 1 Publication
VAR_001648
Natural varianti287 – 2871G → S in OI1. 1 Publication
VAR_063299
Natural varianti320 – 3201G → V in OI1. 1 Publication
VAR_063302
Natural varianti349 – 3491V → F in OI1. 1 Publication
VAR_063304
Natural varianti555 – 5551P → R in OI1. 1 Publication
VAR_063313
Natural varianti647 – 6471G → S in OI1. 1 Publication
VAR_063319
Natural varianti722 – 7221G → S in OI1. 1 Publication
VAR_063321
Natural varianti1079 – 10791G → S in OI1 and OI2; mild to moderate form. 1 Publication
VAR_001714
Natural varianti1157 – 11571G → D in OI1. 1 Publication
VAR_063338
Natural varianti1195 – 11951G → C in OI1; mild form. 2 Publications
VAR_001731
Natural varianti1219 – 12191D → E in OI1. 1 Publication
VAR_063339
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.38 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221G → R in OI2. 1 Publication
VAR_063290
Natural varianti275 – 2751G → D in OI2.
VAR_001649
Natural varianti353 – 3531G → D in OI2. 1 Publication
VAR_063305
Natural varianti368 – 3681G → V in OI2. 1 Publication
VAR_063307
Natural varianti389 – 3891G → R in OI2. 1 Publication
VAR_001656
Natural varianti398 – 3981G → D in OI2.
VAR_001658
Natural varianti422 – 4221G → C in OI2. 1 Publication
VAR_001661
Natural varianti425 – 4251G → S in OI2; lethal form. 2 Publications
VAR_001662
Natural varianti434 – 4341G → V in OI2. 2 Publications
VAR_001663
Natural varianti455 – 4551G → D in OI2. 1 Publication
VAR_063309
Natural varianti470 – 4701G → V in OI2. 1 Publication
VAR_063310
Natural varianti476 – 4761G → R in OI2.
Corresponds to variant rs57377812 [ dbSNP | Ensembl ].
VAR_001664
Natural varianti509 – 5091G → V in OI2. 1 Publication
VAR_063311
Natural varianti530 – 5301G → S in OI2, OI3 and OI4; mild to lethal form. 3 Publications
VAR_001666
Natural varianti533 – 5331G → D in OI2.
VAR_001667
Natural varianti548 – 5481G → A in OI2. 1 Publication
VAR_063312
Natural varianti560 – 5601G → R in OI2.
VAR_001670
Natural varianti569 – 5691G → R in OI2. 1 Publication
VAR_001672
Natural varianti581 – 5811G → R in OI2. 1 Publication
VAR_063315
Natural varianti593 – 5931G → S in OI2 and OI3; moderate to lethal form. 1 Publication
VAR_001674
Natural varianti602 – 6021G → R in OI2. 1 Publication
VAR_063316
Natural varianti605 – 6051G → D in OI2. 1 Publication
VAR_063317
Natural varianti614 – 6141G → R in OI2. 1 Publication
VAR_063318
Natural varianti656 – 6561G → S in OI2. 1 Publication
VAR_001676
Natural varianti719 – 7191G → D in OI2. 1 Publication
VAR_001679
Natural varianti728 – 7281G → R in OI2. 1 Publication
VAR_001681
Natural varianti734 – 7341G → V in OI2. 1 Publication
VAR_063322
Natural varianti737 – 7371G → D in OI2.
VAR_001682
Natural varianti740 – 7401G → R in OI2. 1 Publication
VAR_063323
Natural varianti743 – 7431G → S in OI2.
VAR_001683
Natural varianti743 – 7431G → V in OI2. 1 Publication
VAR_001684
Natural varianti764 – 7641G → V in OI2. 1 Publication
VAR_001685
Natural varianti776 – 7761G → S in OI2. 1 Publication
VAR_001687
Natural varianti809 – 8091G → S in OI2. 2 Publications
VAR_001688
Natural varianti815 – 8151G → V in OI2. 1 Publication
VAR_001689
Natural varianti824 – 8241G → R in OI2. 1 Publication
VAR_063324
Natural varianti833 – 8331G → D in OI2. 1 Publication
VAR_063325
Natural varianti839 – 8391G → S in OI2; mild to moderate form. 1 Publication
VAR_001692
Natural varianti842 – 8421G → R in OI2. 1 Publication
VAR_001693
Natural varianti845 – 8451G → R in OI2. 1 Publication
VAR_001694
Natural varianti848 – 8481G → R in OI2. 1 Publication
VAR_063342
Natural varianti851 – 8511G → D in OI2.
VAR_001695
Natural varianti866 – 8661G → S in OI3 and OI2. 3 Publications
VAR_008118
Natural varianti869 – 8691G → C in OI2. 1 Publication
VAR_001696
Natural varianti875 – 8751G → S in OI2. 1 Publication
VAR_063327
Natural varianti884 – 8841G → S in OI2 and OI3; extremely severe form. 1 Publication
VAR_001697
Natural varianti896 – 8961G → C in OI2. 1 Publication
VAR_001698
Natural varianti896 – 8961G → D in OI2. 1 Publication
VAR_063328
Natural varianti926 – 9261G → C in OI2. 2 Publications
VAR_001699
Natural varianti947 – 9471G → C in OI2. 1 Publication
VAR_063330
Natural varianti977 – 9771G → D in OI2. 1 Publication
VAR_063331
Natural varianti980 – 9801G → V in OI2. 1 Publication
VAR_001700
Natural varianti1001 – 10011G → C in OI2. 1 Publication
VAR_063332
Natural varianti1022 – 10221G → V in OI2. 1 Publication
VAR_001703
Natural varianti1025 – 10251G → R in OI2. 1 Publication
VAR_001704
Natural varianti1040 – 10401G → S in OI2 and OI3; moderate to lethal form. 2 Publications
VAR_001705
Natural varianti1043 – 10431G → S in OI2.
VAR_001706
Natural varianti1046 – 10483Missing in OI2. 2 Publications
VAR_001707
Natural varianti1052 – 10521G → GAPG in OI2.
VAR_063333
Natural varianti1055 – 10551G → D in OI2. 1 Publication
VAR_063334
Natural varianti1061 – 10611G → D in OI2.
VAR_001710
Natural varianti1079 – 10791G → S in OI1 and OI2; mild to moderate form. 1 Publication
VAR_001714
Natural varianti1082 – 10821G → C in OI2. 1 Publication
VAR_001715
Natural varianti1088 – 10881G → A in OI2. 1 Publication
VAR_001716
Natural varianti1091 – 10911G → S in OI2. 1 Publication
VAR_001717
Natural varianti1094 – 10941G → S in OI2. 1 Publication
VAR_063337
Natural varianti1100 – 11001G → D in OI2. 1 Publication
VAR_001718
Natural varianti1106 – 11061G → A in OI2. 1 Publication
VAR_001719
Natural varianti1124 – 11241G → C in OI2. 1 Publication
VAR_001720
Natural varianti1142 – 11421G → S in OI2.
VAR_001721
Natural varianti1151 – 11511G → V in OI2. 2 Publications
VAR_001723
Natural varianti1154 – 11541G → R in OI2. 1 Publication
VAR_001724
Natural varianti1166 – 11661G → C in OI2. 1 Publication
VAR_001725
Natural varianti1172 – 11721G → D in OI2. 1 Publication
VAR_001726
Natural varianti1181 – 11811G → S in OI2. 2 Publications
VAR_001727
Natural varianti1184 – 11841G → V in OI2. 2 Publications
VAR_001728
Natural varianti1187 – 11871G → S in OI2 and OI3; extremely severe form. 1 Publication
VAR_001729
Natural varianti1187 – 11871G → V in OI2. 1 Publication
VAR_001730
Natural varianti1277 – 12771D → H in OI2; impaired pro-alpha chain association. 1 Publication
VAR_001732
Natural varianti1312 – 13121W → C in OI2. 1 Publication
VAR_001733
Natural varianti1337 – 13382Missing in OI2; impaired pro-alpha chain association. 1 Publication
VAR_001734
Natural varianti1388 – 13881L → R in OI2; impaired pro-alpha chain association. 1 Publication
VAR_001735
Natural varianti1413 – 14131D → N in OI2. 2 Publications
VAR_063341
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.15 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti203 – 2031G → V in OI3. 1 Publication
VAR_063295
Natural varianti332 – 3321G → R in OI3; mild to moderate form. 2 Publications
VAR_001650
Natural varianti350 – 3501G → R in OI3. 1 Publication
VAR_001651
Natural varianti530 – 5301G → S in OI2, OI3 and OI4; mild to lethal form. 3 Publications
VAR_001666
Natural varianti593 – 5931G → C in OI3 and OI4. 1 Publication
VAR_001673
Natural varianti593 – 5931G → S in OI2 and OI3; moderate to lethal form. 1 Publication
VAR_001674
Natural varianti704 – 7041G → C in OI3. 1 Publication
VAR_001678
Natural varianti719 – 7191G → S in OI3. 1 Publication
VAR_001680
Natural varianti767 – 7671G → S in OI3; severe. 2 Publications
VAR_001686
Natural varianti821 – 8211G → S in OI3. 3 Publications
VAR_001690
Natural varianti866 – 8661G → S in OI3 and OI2. 3 Publications
VAR_008118
Natural varianti884 – 8841G → S in OI2 and OI3; extremely severe form. 1 Publication
VAR_001697
Natural varianti1022 – 10221G → S in OI3; severe form. 1 Publication
VAR_001702
Natural varianti1040 – 10401G → S in OI2 and OI3; moderate to lethal form. 2 Publications
VAR_001705
Natural varianti1049 – 10491G → S in OI3. 1 Publication
VAR_001708
Natural varianti1058 – 10581G → S in OI3 and OI4; mild form. 2 Publications
VAR_001709
Natural varianti1076 – 10761G → S in OI3; severe form. 1 Publication
VAR_001713
Natural varianti1151 – 11511G → S in OI3.
VAR_001722
Natural varianti1187 – 11871G → S in OI2 and OI3; extremely severe form. 1 Publication
VAR_001729
Natural varianti1464 – 14641L → P in OI3. 1 Publication
VAR_001737
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.11 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti197 – 1971G → R in OI4. 1 Publication
VAR_063293
Natural varianti200 – 2001G → V in OI1; patient diagnosed with OI1/OI4. 1 Publication
VAR_063294
Natural varianti257 – 2571G → R in OI4. 2 Publications
VAR_063297
Natural varianti338 – 3381G → C in OI4. 1 Publication
VAR_063303
Natural varianti353 – 3531G → C in OI4. 1 Publication
VAR_001652
Natural varianti353 – 3531G → S in OI4. 1 Publication
VAR_063306
Natural varianti356 – 3561G → C in OI4; mild form. 1 Publication
VAR_001653
Natural varianti383 – 3831G → C in OI4.
VAR_001654
Natural varianti398 – 3981G → A in OI4. 1 Publication
VAR_001657
Natural varianti401 – 4011G → C in OI4.
VAR_001659
Natural varianti527 – 5271G → C in OI4. 1 Publication
VAR_001665
Natural varianti530 – 5301G → S in OI2, OI3 and OI4; mild to lethal form. 3 Publications
VAR_001666
Natural varianti560 – 5601G → C in OI4.
VAR_001669
Natural varianti560 – 5601G → S in OI4. 1 Publication
VAR_001668
Natural varianti593 – 5931G → C in OI3 and OI4. 1 Publication
VAR_001673
Natural varianti683 – 6831G → S in OI4. 1 Publication
VAR_063320
Natural varianti701 – 7011G → C in OI4. 1 Publication
VAR_001677
Natural varianti1010 – 10101G → S in OI4. 1 Publication
VAR_001701
Natural varianti1058 – 10581G → S in OI3 and OI4; mild form. 2 Publications
VAR_001709
Natural varianti1061 – 10611G → S in OI4. 1 Publication
VAR_001711
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.2 Publications
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry.
A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF.

Keywords - Diseasei

Disease mutation, Dwarfism, Ehlers-Danlos syndrome, Osteogenesis imperfecta

Organism-specific databases

MIMi114000. phenotype.
130000. phenotype.
130060. phenotype.
166200. phenotype.
166210. phenotype.
166220. phenotype.
166710. phenotype.
259420. phenotype.
607907. phenotype.
Orphaneti1310. Caffey disease.
31112. Dermatofibrosarcoma protuberans.
90309. Ehlers-Danlos syndrome type 1.
99875. Ehlers-Danlos syndrome type 7A.
230845. Ehlers-Danlos syndrome, vascular-like type.
230857. Ehlers-Danlos/osteogenesis imperfecta syndrome.
314029. High bone mass osteogenesis imperfecta.
216796. Osteogenesis imperfecta type 1.
216804. Osteogenesis imperfecta type 2.
216812. Osteogenesis imperfecta type 3.
216820. Osteogenesis imperfecta type 4.
PharmGKBiPA35041.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2222Add
BLAST
Propeptidei23 – 161139N-terminal propeptide1 PublicationPRO_0000005719Add
BLAST
Chaini162 – 12181057Collagen alpha-1(I) chainPRO_0000005720Add
BLAST
Propeptidei1219 – 1464246C-terminal propeptidePRO_0000005721Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei162 – 1621Pyrrolidone carboxylic acid1 Publication
Modified residuei170 – 1701Allysine
Modified residuei265 – 26515-hydroxylysine1 Publication
Glycosylationi265 – 2651O-linked (Gal...)1 Publication
Modified residuei1108 – 110815-hydroxylysineBy similarity
Glycosylationi1108 – 11081O-linked (Gal...)By similarity
Modified residuei1164 – 116413-hydroxyprolineBy similarity
Modified residuei1208 – 12081AllysineBy similarity
Disulfide bondi1259 ↔ 1291PROSITE-ProRule annotation
Disulfide bondi1265 – 1265InterchainPROSITE-ProRule annotation
Disulfide bondi1282 – 1282InterchainPROSITE-ProRule annotation
Disulfide bondi1299 ↔ 1462PROSITE-ProRule annotation
Glycosylationi1365 – 13651N-linked (GlcNAc...)
Disulfide bondi1370 ↔ 1415PROSITE-ProRule annotation

Post-translational modificationi

Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains.1 Publication
O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Pyrrolidone carboxylic acid

Proteomic databases

MaxQBiP02452.
PaxDbiP02452.
PRIDEiP02452.

2D gel databases

DOSAC-COBS-2DPAGEP02452.

PTM databases

PhosphoSiteiP02452.

Miscellaneous databases

PMAP-CutDBP02452.

Expressioni

Tissue specificityi

Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.

Gene expression databases

BgeeiP02452.
ExpressionAtlasiP02452. baseline and differential.
GenevestigatoriP02452.

Organism-specific databases

HPAiHPA008405.
HPA011795.

Interactioni

Subunit structurei

Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2 (By similarity). Interacts with TRAM2.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
AAEL010235O019495EBI-982999,EBI-7685554From a different organism.

Protein-protein interaction databases

BioGridi107674. 37 interactions.
DIPiDIP-36077N.
IntActiP02452. 17 interactions.

Structurei

Secondary structure

1
1464
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi264 – 2663
Beta strandi966 – 9683

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1Q7DX-ray1.80A/B/C677-685[»]
2LLPNMR-A/B/C949-965[»]
3EJHX-ray2.10E/F956-977[»]
3GXEX-ray2.60E/F254-275[»]
ProteinModelPortaliP02452.
SMRiP02452. Positions 36-76, 1247-1464.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02452.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini38 – 9659VWFCPROSITE-ProRule annotationAdd
BLAST
Domaini1229 – 1464236Fibrillar collagen NC1PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni162 – 17817Nonhelical region (N-terminal)Add
BLAST
Regioni179 – 11921014Triple-helical regionAdd
BLAST
Regioni1193 – 121826Nonhelical region (C-terminal)Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi745 – 7473Cell attachment siteSequence Analysis
Motifi1093 – 10953Cell attachment siteSequence Analysis

Domaini

The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity).By similarity

Sequence similaritiesi

Belongs to the fibrillar collagen family.PROSITE-ProRule annotation
Contains 1 fibrillar collagen NC1 domain.PROSITE-ProRule annotation
Contains 1 VWFC domain.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiNOG12793.
HOVERGENiHBG004933.
InParanoidiP02452.
KOiK06236.
OMAiYGVIEDG.
OrthoDBiEOG7TJ3HH.
PhylomeDBiP02452.
TreeFamiTF344135.

Family and domain databases

InterProiIPR008160. Collagen.
IPR000885. Fib_collagen_C.
IPR001007. VWF_C.
[Graphical view]
PfamiPF01410. COLFI. 1 hit.
PF01391. Collagen. 13 hits.
PF00093. VWC. 1 hit.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
SM00214. VWC. 1 hit.
[Graphical view]
PROSITEiPS51461. NC1_FIB. 1 hit.
PS01208. VWFC_1. 1 hit.
PS50184. VWFC_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P02452 [UniParc]FASTAAdd to Basket

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        10         20         30         40         50
MFSFVDLRLL LLLAATALLT HGQEEGQVEG QDEDIPPITC VQNGLRYHDR
60 70 80 90 100
DVWKPEPCRI CVCDNGKVLC DDVICDETKN CPGAEVPEGE CCPVCPDGSE
110 120 130 140 150
SPTDQETTGV EGPKGDTGPR GPRGPAGPPG RDGIPGQPGL PGPPGPPGPP
160 170 180 190 200
GPPGLGGNFA PQLSYGYDEK STGGISVPGP MGPSGPRGLP GPPGAPGPQG
210 220 230 240 250
FQGPPGEPGE PGASGPMGPR GPPGPPGKNG DDGEAGKPGR PGERGPPGPQ
260 270 280 290 300
GARGLPGTAG LPGMKGHRGF SGLDGAKGDA GPAGPKGEPG SPGENGAPGQ
310 320 330 340 350
MGPRGLPGER GRPGAPGPAG ARGNDGATGA AGPPGPTGPA GPPGFPGAVG
360 370 380 390 400
AKGEAGPQGP RGSEGPQGVR GEPGPPGPAG AAGPAGNPGA DGQPGAKGAN
410 420 430 440 450
GAPGIAGAPG FPGARGPSGP QGPGGPPGPK GNSGEPGAPG SKGDTGAKGE
460 470 480 490 500
PGPVGVQGPP GPAGEEGKRG ARGEPGPTGL PGPPGERGGP GSRGFPGADG
510 520 530 540 550
VAGPKGPAGE RGSPGPAGPK GSPGEAGRPG EAGLPGAKGL TGSPGSPGPD
560 570 580 590 600
GKTGPPGPAG QDGRPGPPGP PGARGQAGVM GFPGPKGAAG EPGKAGERGV
610 620 630 640 650
PGPPGAVGPA GKDGEAGAQG PPGPAGPAGE RGEQGPAGSP GFQGLPGPAG
660 670 680 690 700
PPGEAGKPGE QGVPGDLGAP GPSGARGERG FPGERGVQGP PGPAGPRGAN
710 720 730 740 750
GAPGNDGAKG DAGAPGAPGS QGAPGLQGMP GERGAAGLPG PKGDRGDAGP
760 770 780 790 800
KGADGSPGKD GVRGLTGPIG PPGPAGAPGD KGESGPSGPA GPTGARGAPG
810 820 830 840 850
DRGEPGPPGP AGFAGPPGAD GQPGAKGEPG DAGAKGDAGP PGPAGPAGPP
860 870 880 890 900
GPIGNVGAPG AKGARGSAGP PGATGFPGAA GRVGPPGPSG NAGPPGPPGP
910 920 930 940 950
AGKEGGKGPR GETGPAGRPG EVGPPGPPGP AGEKGSPGAD GPAGAPGTPG
960 970 980 990 1000
PQGIAGQRGV VGLPGQRGER GFPGLPGPSG EPGKQGPSGA SGERGPPGPM
1010 1020 1030 1040 1050
GPPGLAGPPG ESGREGAPGA EGSPGRDGSP GAKGDRGETG PAGPPGAPGA
1060 1070 1080 1090 1100
PGAPGPVGPA GKSGDRGETG PAGPTGPVGP VGARGPAGPQ GPRGDKGETG
1110 1120 1130 1140 1150
EQGDRGIKGH RGFSGLQGPP GPPGSPGEQG PSGASGPAGP RGPPGSAGAP
1160 1170 1180 1190 1200
GKDGLNGLPG PIGPPGPRGR TGDAGPVGPP GPPGPPGPPG PPSAGFDFSF
1210 1220 1230 1240 1250
LPQPPQEKAH DGGRYYRADD ANVVRDRDLE VDTTLKSLSQ QIENIRSPEG
1260 1270 1280 1290 1300
SRKNPARTCR DLKMCHSDWK SGEYWIDPNQ GCNLDAIKVF CNMETGETCV
1310 1320 1330 1340 1350
YPTQPSVAQK NWYISKNPKD KRHVWFGESM TDGFQFEYGG QGSDPADVAI
1360 1370 1380 1390 1400
QLTFLRLMST EASQNITYHC KNSVAYMDQQ TGNLKKALLL QGSNEIEIRA
1410 1420 1430 1440 1450
EGNSRFTYSV TVDGCTSHTG AWGKTVIEYK TTKTSRLPII DVAPLDVGAP
1460
DQEFGFDVGP VCFL
Length:1,464
Mass (Da):138,941
Last modified:May 18, 2010 - v5
Checksum:iF0EC4DE778FFFC11
GO

Sequence cautioni

The sequence BAD92834.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti59 – 591R → Q in CAA25394. (PubMed:6462220)Curated
Sequence conflicti112 – 1143Missing in AAB94054. (PubMed:9443882)Curated
Sequence conflicti288 – 2881E → P AA sequence (PubMed:2169412)Curated
Sequence conflicti370 – 3701R → L in AAB59373. (PubMed:2843432)Curated
Sequence conflicti484 – 4841P → L in AAA52289. (PubMed:6183642)Curated
Sequence conflicti595 – 5951A → R in AAA51847. (PubMed:2981843)Curated
Sequence conflicti721 – 7211Q → E no nucleotide entry (PubMed:2339700)Curated
Sequence conflicti738 – 7381L → E no nucleotide entry (PubMed:2339700)Curated
Sequence conflicti975 – 9762LP → PL in AAA52291. (PubMed:6183642)Curated
Sequence conflicti1081 – 10811V → A in AAA51995. (PubMed:6689127)Curated
Sequence conflicti1329 – 13291S → T in AAB27856. (PubMed:8349697)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti22 – 221G → R in OI2. 1 Publication
VAR_063290
Natural varianti146 – 1461P → T in a patient with osteogenesis imperfecta type 2; rare variant of unknown pathological significance. 1 Publication
VAR_063291
Natural varianti194 – 1941G → R in OI1. 1 Publication
VAR_063292
Natural varianti197 – 1971G → C.
Corresponds to variant rs8179178 [ dbSNP | Ensembl ].
VAR_001642
Natural varianti197 – 1971G → R in OI4. 1 Publication
VAR_063293
Natural varianti200 – 2001G → V in OI1; patient diagnosed with OI1/OI4. 1 Publication
VAR_063294
Natural varianti203 – 2031G → V in OI3. 1 Publication
VAR_063295
Natural varianti205 – 2051P → A.1 Publication
Corresponds to variant rs72667032 [ dbSNP | Ensembl ].
VAR_001643
Natural varianti221 – 2211G → C in OI1; mild form. 1 Publication
VAR_001644
Natural varianti224 – 2241G → C in OI1; mild phenotype.
VAR_001645
Natural varianti242 – 2421G → D in OI. 1 Publication
VAR_063296
Natural varianti257 – 2571G → R in OI4. 2 Publications
VAR_063297
Natural varianti263 – 2631G → R in OI1; mild form. 1 Publication
VAR_001646
Natural varianti263 – 2631G → V in OI1; mild form. 1 Publication
VAR_001647
Natural varianti266 – 2661G → E in OI1. 1 Publication
VAR_063298
Natural varianti272 – 2721G → C in OI1. 1 Publication
VAR_001648
Natural varianti275 – 2751G → D in OI2.
VAR_001649
Natural varianti287 – 2871G → S in OI1. 1 Publication
VAR_063299
Natural varianti288 – 2881E → K in a patient with osteogenesis imperfecta type 1 carrying also mutation Glu-1219; unknown pathological significance. 1 Publication
VAR_063300
Natural varianti288 – 2881E → V in a patient with osteogenesis imperfecta type 2; rare variant of unknown pathological significance. 1 Publication
VAR_063301
Natural varianti312 – 3121R → C in EDS1. 2 Publications
VAR_013579
Natural varianti320 – 3201G → V in OI1. 1 Publication
VAR_063302
Natural varianti332 – 3321G → R in OI3; mild to moderate form. 2 Publications
VAR_001650
Natural varianti338 – 3381G → C in OI4. 1 Publication
VAR_063303
Natural varianti349 – 3491V → F in OI1. 1 Publication
VAR_063304
Natural varianti350 – 3501G → R in OI3. 1 Publication
VAR_001651
Natural varianti353 – 3531G → C in OI4. 1 Publication
VAR_001652
Natural varianti353 – 3531G → D in OI2. 1 Publication
VAR_063305
Natural varianti353 – 3531G → S in OI4. 1 Publication
VAR_063306
Natural varianti356 – 3561G → C in OI4; mild form. 1 Publication
VAR_001653
Natural varianti368 – 3681G → V in OI2. 1 Publication
VAR_063307
Natural varianti383 – 3831G → C in OI4.
VAR_001654
Natural varianti389 – 3891G → C in OI; moderate form.
VAR_001655
Natural varianti389 – 3891G → R in OI2. 1 Publication
VAR_001656
Natural varianti390 – 3901A → T in a patient with osteogenesis imperfecta type 2; rare variant of unknown pathological significance. 1 Publication
Corresponds to variant rs116794104 [ dbSNP | Ensembl ].
VAR_063308
Natural varianti398 – 3981G → A in OI4. 1 Publication
VAR_001657
Natural varianti398 – 3981G → D in OI2.
VAR_001658
Natural varianti401 – 4011G → C in OI4.
VAR_001659
Natural varianti404 – 4041G → C in OI; moderate form.
VAR_001660
Natural varianti422 – 4221G → C in OI2. 1 Publication
VAR_001661
Natural varianti425 – 4251G → S in OI2; lethal form. 2 Publications
VAR_001662
Natural varianti434 – 4341G → V in OI2. 2 Publications
VAR_001663
Natural varianti455 – 4551G → D in OI2. 1 Publication
VAR_063309
Natural varianti470 – 4701G → V in OI2. 1 Publication
VAR_063310
Natural varianti476 – 4761G → R in OI2.
Corresponds to variant rs57377812 [ dbSNP | Ensembl ].
VAR_001664
Natural varianti509 – 5091G → V in OI2. 1 Publication
VAR_063311
Natural varianti527 – 5271G → C in OI4. 1 Publication
VAR_001665
Natural varianti530 – 5301G → S in OI2, OI3 and OI4; mild to lethal form. 3 Publications
VAR_001666
Natural varianti533 – 5331G → D in OI2.
VAR_001667
Natural varianti548 – 5481G → A in OI2. 1 Publication
VAR_063312
Natural varianti555 – 5551P → R in OI1. 1 Publication
VAR_063313
Natural varianti560 – 5601G → C in OI4.
VAR_001669
Natural varianti560 – 5601G → R in OI2.
VAR_001670
Natural varianti560 – 5601G → S in OI4. 1 Publication
VAR_001668
Natural varianti564 – 5641R → H.
Corresponds to variant rs1800211 [ dbSNP | Ensembl ].
VAR_001671
Natural varianti569 – 5691G → R in OI2. 1 Publication
VAR_001672
Natural varianti574 – 5741R → C in a patient with isolated osteopenia and vascular rupture. 1 Publication
VAR_063314
Natural varianti581 – 5811G → R in OI2. 1 Publication
VAR_063315
Natural varianti593 – 5931G → C in OI3 and OI4. 1 Publication
VAR_001673
Natural varianti593 – 5931G → S in OI2 and OI3; moderate to lethal form. 1 Publication
VAR_001674
Natural varianti602 – 6021G → R in OI2. 1 Publication
VAR_063316
Natural varianti605 – 6051G → D in OI2. 1 Publication
VAR_063317
Natural varianti614 – 6141G → R in OI2. 1 Publication
VAR_063318
Natural varianti647 – 6471G → S in OI1. 1 Publication
VAR_063319
Natural varianti656 – 6561G → S in OI2. 1 Publication
VAR_001676
Natural varianti683 – 6831G → S in OI4. 1 Publication
VAR_063320
Natural varianti701 – 7011G → C in OI4. 1 Publication
VAR_001677
Natural varianti704 – 7041G → C in OI3. 1 Publication
VAR_001678
Natural varianti719 – 7191G → D in OI2. 1 Publication
VAR_001679
Natural varianti719 – 7191G → S in OI3. 1 Publication
VAR_001680
Natural varianti722 – 7221G → S in OI1. 1 Publication
VAR_063321
Natural varianti728 – 7281G → R in OI2. 1 Publication
VAR_001681
Natural varianti734 – 7341G → V in OI2. 1 Publication
VAR_063322
Natural varianti737 – 7371G → D in OI2.
VAR_001682
Natural varianti740 – 7401G → R in OI2. 1 Publication
VAR_063323
Natural varianti743 – 7431G → S in OI2.
VAR_001683
Natural varianti743 – 7431G → V in OI2. 1 Publication
VAR_001684
Natural varianti764 – 7641G → V in OI2. 1 Publication
VAR_001685
Natural varianti767 – 7671G → S in OI3; severe. 2 Publications
VAR_001686
Natural varianti776 – 7761G → S in OI2. 1 Publication
VAR_001687
Natural varianti809 – 8091G → S in OI2. 2 Publications
VAR_001688
Natural varianti815 – 8151G → V in OI2. 1 Publication
VAR_001689
Natural varianti821 – 8211G → S in OI3. 3 Publications
VAR_001690
Natural varianti823 – 8231P → A.1 Publication
Corresponds to variant rs1800214 [ dbSNP | Ensembl ].