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P02452

- CO1A1_HUMAN

UniProt

P02452 - CO1A1_HUMAN

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
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    • History
      Entry version 190 (01 Oct 2014)
      Sequence version 5 (18 May 2010)
      Previous versions | rss
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    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
    5. protein binding Source: UniProtKB

    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

    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 region Source: Reactome
    4. extracellular space Source: BHF-UCL

    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.
    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

    ArrayExpressiP02452.
    BgeeiP02452.
    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. 29 interactions.
    DIPiDIP-36077N.
    IntActiP02452. 15 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 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.

    P02452-1 [UniParc]FASTAAdd to Basket

    « Hide

    MFSFVDLRLL LLLAATALLT HGQEEGQVEG QDEDIPPITC VQNGLRYHDR     50
    DVWKPEPCRI CVCDNGKVLC DDVICDETKN CPGAEVPEGE CCPVCPDGSE 100
    SPTDQETTGV EGPKGDTGPR GPRGPAGPPG RDGIPGQPGL PGPPGPPGPP 150
    GPPGLGGNFA PQLSYGYDEK STGGISVPGP MGPSGPRGLP GPPGAPGPQG 200
    FQGPPGEPGE PGASGPMGPR GPPGPPGKNG DDGEAGKPGR PGERGPPGPQ 250
    GARGLPGTAG LPGMKGHRGF SGLDGAKGDA GPAGPKGEPG SPGENGAPGQ 300
    MGPRGLPGER GRPGAPGPAG ARGNDGATGA AGPPGPTGPA GPPGFPGAVG 350
    AKGEAGPQGP RGSEGPQGVR GEPGPPGPAG AAGPAGNPGA DGQPGAKGAN 400
    GAPGIAGAPG FPGARGPSGP QGPGGPPGPK GNSGEPGAPG SKGDTGAKGE 450
    PGPVGVQGPP GPAGEEGKRG ARGEPGPTGL PGPPGERGGP GSRGFPGADG 500
    VAGPKGPAGE RGSPGPAGPK GSPGEAGRPG EAGLPGAKGL TGSPGSPGPD 550
    GKTGPPGPAG QDGRPGPPGP PGARGQAGVM GFPGPKGAAG EPGKAGERGV 600
    PGPPGAVGPA GKDGEAGAQG PPGPAGPAGE RGEQGPAGSP GFQGLPGPAG 650
    PPGEAGKPGE QGVPGDLGAP GPSGARGERG FPGERGVQGP PGPAGPRGAN 700
    GAPGNDGAKG DAGAPGAPGS QGAPGLQGMP GERGAAGLPG PKGDRGDAGP 750
    KGADGSPGKD GVRGLTGPIG PPGPAGAPGD KGESGPSGPA GPTGARGAPG 800
    DRGEPGPPGP AGFAGPPGAD GQPGAKGEPG DAGAKGDAGP PGPAGPAGPP 850
    GPIGNVGAPG AKGARGSAGP PGATGFPGAA GRVGPPGPSG NAGPPGPPGP 900
    AGKEGGKGPR GETGPAGRPG EVGPPGPPGP AGEKGSPGAD GPAGAPGTPG 950
    PQGIAGQRGV VGLPGQRGER GFPGLPGPSG EPGKQGPSGA SGERGPPGPM 1000
    GPPGLAGPPG ESGREGAPGA EGSPGRDGSP GAKGDRGETG PAGPPGAPGA 1050
    PGAPGPVGPA GKSGDRGETG PAGPTGPVGP VGARGPAGPQ GPRGDKGETG 1100
    EQGDRGIKGH RGFSGLQGPP GPPGSPGEQG PSGASGPAGP RGPPGSAGAP 1150
    GKDGLNGLPG PIGPPGPRGR TGDAGPVGPP GPPGPPGPPG PPSAGFDFSF 1200
    LPQPPQEKAH DGGRYYRADD ANVVRDRDLE VDTTLKSLSQ QIENIRSPEG 1250
    SRKNPARTCR DLKMCHSDWK SGEYWIDPNQ GCNLDAIKVF CNMETGETCV 1300
    YPTQPSVAQK NWYISKNPKD KRHVWFGESM TDGFQFEYGG QGSDPADVAI 1350
    QLTFLRLMST EASQNITYHC KNSVAYMDQQ TGNLKKALLL QGSNEIEIRA 1400
    EGNSRFTYSV TVDGCTSHTG AWGKTVIEYK TTKTSRLPII DVAPLDVGAP 1450
    DQEFGFDVGP VCFL 1464
    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 ].
    VAR_001691
    Natural varianti824 – 8241G → R in OI2. 1 Publication
    VAR_063324