UniProtKB - P08123 (CO1A2_HUMAN)
Protein
Collagen alpha-2(I) chain
Gene
COL1A2
Organism
Homo sapiens (Human)
Status
Functioni
Type I collagen is a member of group I collagen (fibrillar forming collagen).
Sites
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Metal bindingi | 1181 | CalciumBy similarity | 1 | |
| Metal bindingi | 1183 | CalciumBy similarity | 1 | |
| Metal bindingi | 1184 | Calcium; via carbonyl oxygenBy similarity | 1 | |
| Metal bindingi | 1186 | Calcium; via carbonyl oxygenBy similarity | 1 | |
| Metal bindingi | 1189 | CalciumBy similarity | 1 |
GO - Molecular functioni
- extracellular matrix structural constituent Source: GO_Central
- extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
- identical protein binding Source: UniProtKB
- metal ion binding Source: UniProtKB-KW
- platelet-derived growth factor binding Source: MGI
- protease binding Source: CAFA
- protein binding, bridging Source: UniProtKB
- SMAD binding Source: Ensembl
GO - Biological processi
- blood coagulation Source: Reactome
- blood vessel development Source: UniProtKB
- cellular response to amino acid stimulus Source: Ensembl
- collagen fibril organization Source: UniProtKB
- cytokine-mediated signaling pathway Source: Reactome
- extracellular matrix organization Source: GO_Central
- leukocyte migration Source: Reactome
- odontogenesis Source: UniProtKB
- platelet activation Source: Reactome
- protein heterotrimerization Source: Ensembl
- regulation of blood pressure Source: UniProtKB
- regulation of immune response Source: Reactome
- Rho protein signal transduction Source: UniProtKB
- skeletal system development Source: UniProtKB
- skin morphogenesis Source: UniProtKB
- transforming growth factor beta receptor signaling pathway Source: UniProtKB
Keywordsi
| Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
| Reactomei | R-HSA-114604 GPVI-mediated activation cascade R-HSA-1442490 Collagen degradation R-HSA-1474244 Extracellular matrix organization R-HSA-1650814 Collagen biosynthesis and modifying enzymes R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-202733 Cell surface interactions at the vascular wall R-HSA-216083 Integrin cell surface interactions R-HSA-2214320 Anchoring fibril formation R-HSA-2243919 Crosslinking of collagen fibrils R-HSA-3000170 Syndecan interactions R-HSA-3000171 Non-integrin membrane-ECM interactions R-HSA-3000178 ECM proteoglycans R-HSA-3000480 Scavenging by Class A Receptors R-HSA-430116 GP1b-IX-V activation signalling R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling R-HSA-75892 Platelet Adhesion to exposed collagen R-HSA-76009 Platelet Aggregation (Plug Formation) R-HSA-8874081 MET activates PTK2 signaling R-HSA-8948216 Collagen chain trimerization |
| SIGNORi | P08123 |
Names & Taxonomyi
| Protein namesi | Recommended name: Collagen alpha-2(I) chainAlternative name(s): Alpha-2 type I collagen |
| Gene namesi | Name:COL1A2 |
| Organismi | Homo sapiens (Human) |
| Taxonomic identifieri | 9606 [NCBI] |
| Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
| Proteomesi |
|
Organism-specific databases
| EuPathDBi | HostDB:ENSG00000164692.17 |
| HGNCi | HGNC:2198 COL1A2 |
| MIMi | 120160 gene |
| neXtProti | NX_P08123 |
Pathology & Biotechi
Involvement in diseasei
Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement.
See also OMIM:617821| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_001851 | 76 – 93 | Missing in EDSARTH2. 3 PublicationsAdd BLAST | 18 |
Osteogenesis imperfecta 1 (OI1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:166200| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_001852 | 211 | G → D in OI1. 1 PublicationCorresponds to variant dbSNP:rs72656378Ensembl. | 1 | |
| Natural variantiVAR_063346 | 247 | G → R in OI1. 1 Publication | 1 | |
| Natural variantiVAR_063350 | 319 | G → R in OI1. 1 PublicationCorresponds to variant dbSNP:rs72656393Ensembl. | 1 | |
| Natural variantiVAR_001855 | 328 | G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant dbSNP:rs66612022EnsemblClinVar. | 1 | |
| Natural variantiVAR_063363 | 733 | G → C in OI1. 1 PublicationCorresponds to variant dbSNP:rs72658172Ensembl. | 1 | |
| Natural variantiVAR_001879 | 736 | G → C in OI1; mild. 2 PublicationsCorresponds to variant dbSNP:rs72658173Ensembl. | 1 | |
| Natural variantiVAR_001890 | 835 | G → S in OI1. 1 PublicationCorresponds to variant dbSNP:rs72658193Ensembl. | 1 | |
| Natural variantiVAR_063383 | 1195 | C → Y in OI1. 1 PublicationCorresponds to variant dbSNP:rs72659342Ensembl. | 1 |
Osteogenesis imperfecta 2 (OI2)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:166210| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_063345 | 234 | R → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs1206388800Ensembl. | 1 | |
| Natural variantiVAR_063347 | 253 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72656385Ensembl. | 1 | |
| Natural variantiVAR_063349 | 283 | G → R in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001856 | 334 | G → C in OI2. | 1 | |
| Natural variantiVAR_063353 | 397 | G → E in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001861 | 409 | G → V in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658109Ensembl. | 1 | |
| Natural variantiVAR_001862 | 433 | G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658114Ensembl. | 1 | |
| Natural variantiVAR_063354 | 454 | G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658117EnsemblClinVar. | 1 | |
| Natural variantiVAR_063355 | 457 | G → L in OI2; requires 2 nucleotide substitutions. 1 Publication | 1 | |
| Natural variantiVAR_063356 | 461 – 466 | Missing in OI2. 1 Publication | 6 | |
| Natural variantiVAR_001864 | 511 | G → D in OI2. Corresponds to variant dbSNP:rs66999265Ensembl. | 1 | |
| Natural variantiVAR_063357 | 526 | G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658130Ensembl. | 1 | |
| Natural variantiVAR_001866 | 547 | G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658136Ensembl. | 1 | |
| Natural variantiVAR_001868 | 562 | G → C in OI2. Corresponds to variant dbSNP:rs72658138Ensembl. | 1 | |
| Natural variantiVAR_063358 | 562 | G → V in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001869 | 586 | G → R in OI2. Corresponds to variant dbSNP:rs72658139Ensembl. | 1 | |
| Natural variantiVAR_001870 | 592 | G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658141Ensembl. | 1 | |
| Natural variantiVAR_063360 | 625 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658145Ensembl. | 1 | |
| Natural variantiVAR_001872 | 637 | G → D in OI2. Corresponds to variant dbSNP:rs72658148Ensembl. | 1 | |
| Natural variantiVAR_001873 | 640 | G → S in OI2. | 1 | |
| Natural variantiVAR_001874 | 670 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658155Ensembl. | 1 | |
| Natural variantiVAR_030120 | 676 – 855 | Missing in OI2. 1 PublicationAdd BLAST | 180 | |
| Natural variantiVAR_063362 | 705 – 707 | Missing in OI2. 1 Publication | 3 | |
| Natural variantiVAR_001877 | 715 | G → D in OI2. Corresponds to variant dbSNP:rs72658167Ensembl. | 1 | |
| Natural variantiVAR_001878 | 730 | G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658171Ensembl. | 1 | |
| Natural variantiVAR_063364 | 739 | G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658174Ensembl. | 1 | |
| Natural variantiVAR_063365 | 748 | G → V in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001882 | 754 | G → R in OI2. | 1 | |
| Natural variantiVAR_001885 | 784 | G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs66592844Ensembl. | 1 | |
| Natural variantiVAR_001886 | 787 | G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658187Ensembl. | 1 | |
| Natural variantiVAR_001887 | 790 | G → D in OI2. 2 PublicationsCorresponds to variant dbSNP:rs72658188Ensembl. | 1 | |
| Natural variantiVAR_001888 | 796 | G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs66716547Ensembl. | 1 | |
| Natural variantiVAR_063367 | 798 | P → PP in OI2. 1 Publication | 1 | |
| Natural variantiVAR_063368 | 806 – 811 | Missing in OI2. 1 Publication | 6 | |
| Natural variantiVAR_063373 | 856 | G → V in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001891 | 877 | G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658201Ensembl. | 1 | |
| Natural variantiVAR_001893 | 895 | G → D in OI2. Corresponds to variant dbSNP:rs72659305Ensembl. | 1 | |
| Natural variantiVAR_063374 | 955 | G → D in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001895 | 955 | G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs66507857Ensembl. | 1 | |
| Natural variantiVAR_063375 | 982 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs67422093Ensembl. | 1 | |
| Natural variantiVAR_001896 | 997 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72659317Ensembl. | 1 | |
| Natural variantiVAR_063378 | 1003 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs1114167414Ensembl. | 1 | |
| Natural variantiVAR_063379 | 1027 | G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72659323Ensembl. | 1 | |
| Natural variantiVAR_063380 | 1058 – 1062 | Missing in OI2. 1 Publication | 5 | |
| Natural variantiVAR_001899 | 1066 | G → D in OI2. Corresponds to variant dbSNP:rs72659331Ensembl. | 1 | |
| Natural variantiVAR_001900 | 1078 | G → C in OI2. | 1 |
Ehlers-Danlos syndrome, cardiac valvular type (EDSCV)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation.
See also OMIM:225320Osteogenesis imperfecta 3 (OI3)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:259420| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_008119 | 331 | G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs67729041EnsemblClinVar. | 1 | |
| Natural variantiVAR_001857 | 337 | G → C in OI3. 1 PublicationCorresponds to variant dbSNP:rs67865220EnsemblClinVar. | 1 | |
| Natural variantiVAR_001858 | 337 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs67865220EnsemblClinVar. | 1 | |
| Natural variantiVAR_001859 | 345 | Missing in OI3. 1 Publication | 1 | |
| Natural variantiVAR_001860 | 349 | G → C in OI3. 2 PublicationsCorresponds to variant dbSNP:rs66773001EnsemblClinVar. | 1 | |
| Natural variantiVAR_063352 | 358 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs66619856EnsemblClinVar. | 1 | |
| Natural variantiVAR_001863 | 460 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658118EnsemblClinVar. | 1 | |
| Natural variantiVAR_001865 | 517 | G → R in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658126Ensembl. | 1 | |
| Natural variantiVAR_063361 | 676 | G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs66883877EnsemblClinVar. | 1 | |
| Natural variantiVAR_001884 | 778 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658186EnsemblClinVar. | 1 | |
| Natural variantiVAR_063370 | 820 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658191Ensembl. | 1 | |
| Natural variantiVAR_063371 | 835 | G → C in OI3. 1 Publication | 1 | |
| Natural variantiVAR_063372 | 856 | G → R in OI3. 1 Publication | 1 | |
| Natural variantiVAR_001894 | 949 | G → S in OI3; moderate. 2 PublicationsCorresponds to variant dbSNP:rs72659312Ensembl. | 1 | |
| Natural variantiVAR_008120 | 973 | G → V in OI3. 1 PublicationCorresponds to variant dbSNP:rs67609234EnsemblClinVar. | 1 | |
| Natural variantiVAR_063377 | 991 | G → V in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659316Ensembl. | 1 | |
| Natural variantiVAR_063381 | 1087 | G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659335Ensembl. | 1 | |
| Natural variantiVAR_001901 | 1096 | G → A in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659337Ensembl. | 1 | |
| Natural variantiVAR_001904 | 1148 | T → P in OI3. 1 PublicationCorresponds to variant dbSNP:rs1800250Ensembl. | 1 |
Osteogenesis imperfecta 4 (OI4)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:166220| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_030117 | 181 – 198 | Missing in OI4. 1 PublicationAdd BLAST | 18 | |
| Natural variantiVAR_063343 | 193 | G → S in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656370EnsemblClinVar. | 1 | |
| Natural variantiVAR_063344 | 202 | G → R in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656376Ensembl. | 1 | |
| Natural variantiVAR_063348 | 256 | G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs67525025EnsemblClinVar. | 1 | |
| Natural variantiVAR_063351 | 325 | G → E in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656395Ensembl. | 1 | |
| Natural variantiVAR_001855 | 328 | G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant dbSNP:rs66612022EnsemblClinVar. | 1 | |
| Natural variantiVAR_001871 | 634 | G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658147Ensembl. | 1 | |
| Natural variantiVAR_001881 | 751 | G → S in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658176EnsemblClinVar. | 1 | |
| Natural variantiVAR_063366 | 754 | G → C in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658177EnsemblClinVar. | 1 | |
| Natural variantiVAR_001883 | 766 | G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658183Ensembl. | 1 | |
| Natural variantiVAR_063369 | 811 | G → GPPG in OI4. | 1 | |
| Natural variantiVAR_063376 | 989 | P → PVGP in OI4. | 1 | |
| Natural variantiVAR_063382 | 1094 – 1096 | Missing in OI4. 1 Publication | 3 | |
| Natural variantiVAR_001902 | 1102 | G → R in OI4. 1 PublicationCorresponds to variant dbSNP:rs67768540Ensembl. | 1 |
A chromosomal aberration involving COL1A2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with PLAG1.
Keywords - Diseasei
Disease mutation, Dwarfism, Ehlers-Danlos syndrome, Osteogenesis imperfectaOrganism-specific databases
| DisGeNETi | 1278 |
| GeneReviewsi | COL1A2 |
| MalaCardsi | COL1A2 |
| MIMi | 166200 phenotype 166210 phenotype 166220 phenotype 225320 phenotype 259420 phenotype 617821 phenotype |
| OpenTargetsi | ENSG00000164692 |
| Orphaneti | 99876 Ehlers-Danlos syndrome type 7B 230851 Ehlers-Danlos syndrome, cardiac valvular 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 |
| PharmGKBi | PA35042 |
Chemistry databases
| ChEMBLi | CHEMBL2685 |
| DrugBanki | DB00048 Collagenase clostridium histolyticum |
Polymorphism and mutation databases
| BioMutai | COL1A2 |
| DMDMi | 296439507 |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Signal peptidei | 1 – 22 | By similarityAdd BLAST | 22 | |
| PropeptideiPRO_0000005804 | 23 – 79 | N-terminal propeptide1 PublicationAdd BLAST | 57 | |
| ChainiPRO_0000005805 | 80 – 1119 | Collagen alpha-2(I) chainAdd BLAST | 1040 | |
| PropeptideiPRO_0000005806 | 1120 – 1366 | C-terminal propeptideAdd BLAST | 247 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Modified residuei | 23 | Pyrrolidone carboxylic acid1 Publication | 1 | |
| Modified residuei | 47 | 4-hydroxyproline2 Publications | 1 | |
| Modified residuei | 50 | 4-hydroxyproline2 Publications | 1 | |
| Modified residuei | 62 | 4-hydroxyproline2 Publications | 1 | |
| Modified residuei | 65 | 4-hydroxyproline2 Publications | 1 | |
| Modified residuei | 68 | 4-hydroxyproline2 Publications | 1 | |
| Modified residuei | 71 | 4-hydroxyproline2 Publications | 1 | |
| Modified residuei | 80 | Pyrrolidone carboxylic acid1 Publication | 1 | |
| Modified residuei | 84 | Allysine1 Publication | 1 | |
| Modified residuei | 102 | 4-hydroxyproline1 Publication | 1 | |
| Modified residuei | 108 | 4-hydroxyproline1 Publication | 1 | |
| Modified residuei | 177 | 5-hydroxylysine; alternate1 Publication | 1 | |
| Glycosylationi | 177 | O-linked (Gal...) hydroxylysine; alternate1 Publication | 1 | |
| Modified residuei | 420 | 4-hydroxyproline1 Publication | 1 | |
| Modified residuei | 441 | 4-hydroxyproline1 Publication | 1 | |
| Modified residuei | 444 | 4-hydroxyproline1 Publication | 1 | |
| Disulfide bondi | 1163 ↔ 1195 | PROSITE-ProRule annotation | ||
| Disulfide bondi | 1203 ↔ 1364 | PROSITE-ProRule annotation | ||
| Glycosylationi | 1267 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
| Disulfide bondi | 1272 ↔ 1317 | PROSITE-ProRule annotation |
Post-translational modificationi
Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.1 Publication
Keywords - PTMi
Disulfide bond, Glycoprotein, Hydroxylation, Pyrrolidone carboxylic acidProteomic databases
| EPDi | P08123 |
| MaxQBi | P08123 |
| PaxDbi | P08123 |
| PeptideAtlasi | P08123 |
| PRIDEi | P08123 |
| ProteomicsDBi | 52070 |
PTM databases
| GlyConnecti | 1135 |
| iPTMneti | P08123 |
| PhosphoSitePlusi | P08123 |
Expressioni
Tissue specificityi
Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
Gene expression databases
| Bgeei | ENSG00000164692 Expressed in 238 organ(s), highest expression level in tibia |
| ExpressionAtlasi | P08123 baseline and differential |
| Genevisiblei | P08123 HS |
Organism-specific databases
| HPAi | CAB032650 HPA059738 |
Interactioni
Subunit structurei
Trimers of one alpha 2(I) and two alpha 1(I) chains.
Binary interactionsi
GO - Molecular functioni
- identical protein binding Source: UniProtKB
- platelet-derived growth factor binding Source: MGI
- protease binding Source: CAFA
- protein binding, bridging Source: UniProtKB
- SMAD binding Source: Ensembl
Protein-protein interaction databases
| BioGridi | 107675, 23 interactors |
| ComplexPortali | CPX-1650 Collagen type I trimer |
| DIPi | DIP-36079N |
| IntActi | P08123, 23 interactors |
| MINTi | P08123 |
| STRINGi | 9606.ENSP00000297268 |
Structurei
3D structure databases
| ProteinModelPortali | P08123 |
| SMRi | P08123 |
| ModBasei | Search... |
| MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Domaini | 1133 – 1366 | Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST | 234 |
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
Sequence similaritiesi
Belongs to the fibrillar collagen family.PROSITE-ProRule annotation
Keywords - Domaini
Collagen, Repeat, SignalPhylogenomic databases
| eggNOGi | KOG3544 Eukaryota ENOG410XNMM LUCA |
| GeneTreei | ENSGT00900000140789 |
| HOVERGENi | HBG004933 |
| InParanoidi | P08123 |
| KOi | K06236 |
| OMAi | PTGKHGN |
| OrthoDBi | EOG091G03LV |
| PhylomeDBi | P08123 |
| TreeFami | TF344135 |
Family and domain databases
| InterProi | View protein in InterPro IPR008160 Collagen IPR000885 Fib_collagen_C |
| Pfami | View protein in Pfam PF01410 COLFI, 1 hit PF01391 Collagen, 6 hits |
| ProDomi | View protein in ProDom or Entries sharing at least one domain PD002078 Fib_collagen_C, 1 hit |
| SMARTi | View protein in SMART SM00038 COLFI, 1 hit |
| PROSITEi | View protein in PROSITE PS51461 NC1_FIB, 1 hit |
Sequence (1+)i
Sequence statusi: Complete.
Sequence processingi: The displayed sequence is further processed into a mature form.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
P08123-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MLSFVDTRTL LLLAVTLCLA TCQSLQEETV RKGPAGDRGP RGERGPPGPP
60 70 80 90 100
GRDGEDGPTG PPGPPGPPGP PGLGGNFAAQ YDGKGVGLGP GPMGLMGPRG
110 120 130 140 150
PPGAAGAPGP QGFQGPAGEP GEPGQTGPAG ARGPAGPPGK AGEDGHPGKP
160 170 180 190 200
GRPGERGVVG PQGARGFPGT PGLPGFKGIR GHNGLDGLKG QPGAPGVKGE
210 220 230 240 250
PGAPGENGTP GQTGARGLPG ERGRVGAPGP AGARGSDGSV GPVGPAGPIG
260 270 280 290 300
SAGPPGFPGA PGPKGEIGAV GNAGPAGPAG PRGEVGLPGL SGPVGPPGNP
310 320 330 340 350
GANGLTGAKG AAGLPGVAGA PGLPGPRGIP GPVGAAGATG ARGLVGEPGP
360 370 380 390 400
AGSKGESGNK GEPGSAGPQG PPGPSGEEGK RGPNGEAGSA GPPGPPGLRG
410 420 430 440 450
SPGSRGLPGA DGRAGVMGPP GSRGASGPAG VRGPNGDAGR PGEPGLMGPR
460 470 480 490 500
GLPGSPGNIG PAGKEGPVGL PGIDGRPGPI GPAGARGEPG NIGFPGPKGP
510 520 530 540 550
TGDPGKNGDK GHAGLAGARG APGPDGNNGA QGPPGPQGVQ GGKGEQGPPG
560 570 580 590 600
PPGFQGLPGP SGPAGEVGKP GERGLHGEFG LPGPAGPRGE RGPPGESGAA
610 620 630 640 650
GPTGPIGSRG PSGPPGPDGN KGEPGVVGAV GTAGPSGPSG LPGERGAAGI
660 670 680 690 700
PGGKGEKGEP GLRGEIGNPG RDGARGAPGA VGAPGPAGAT GDRGEAGAAG
710 720 730 740 750
PAGPAGPRGS PGERGEVGPA GPNGFAGPAG AAGQPGAKGE RGAKGPKGEN
760 770 780 790 800
GVVGPTGPVG AAGPAGPNGP PGPAGSRGDG GPPGMTGFPG AAGRTGPPGP
810 820 830 840 850
SGISGPPGPP GPAGKEGLRG PRGDQGPVGR TGEVGAVGPP GFAGEKGPSG
860 870 880 890 900
EAGTAGPPGT PGPQGLLGAP GILGLPGSRG ERGLPGVAGA VGEPGPLGIA
910 920 930 940 950
GPPGARGPPG AVGSPGVNGA PGEAGRDGNP GNDGPPGRDG QPGHKGERGY
960 970 980 990 1000
PGNIGPVGAA GAPGPHGPVG PAGKHGNRGE TGPSGPVGPA GAVGPRGPSG
1010 1020 1030 1040 1050
PQGIRGDKGE PGEKGPRGLP GLKGHNGLQG LPGIAGHHGD QGAPGSVGPA
1060 1070 1080 1090 1100
GPRGPAGPSG PAGKDGRTGH PGTVGPAGIR GPQGHQGPAG PPGPPGPPGP
1110 1120 1130 1140 1150
PGVSGGGYDF GYDGDFYRAD QPRSAPSLRP KDYEVDATLK SLNNQIETLL
1160 1170 1180 1190 1200
TPEGSRKNPA RTCRDLRLSH PEWSSGYYWI DPNQGCTMDA IKVYCDFSTG
1210 1220 1230 1240 1250
ETCIRAQPEN IPAKNWYRSS KDKKHVWLGE TINAGSQFEY NVEGVTSKEM
1260 1270 1280 1290 1300
ATQLAFMRLL ANYASQNITY HCKNSIAYMD EETGNLKKAV ILQGSNDVEL
1310 1320 1330 1340 1350
VAEGNSRFTY TVLVDGCSKK TNEWGKTIIE YKTNKPSRLP FLDIAPLDIG
1360
GADQEFFVDI GPVCFK
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket| A0A087WTA8 | A0A087WTA8_HUMAN | Collagen alpha-2(I) chain | COL1A2 | 1,364 | Annotation score: |
Experimental Info
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Sequence conflicti | 55 | E → G in CAA26320 (PubMed:4011429).Curated | 1 | |
| Sequence conflicti | 333 | V → P in AAB59374 (PubMed:2824475).Curated | 1 | |
| Sequence conflicti | 338 | A → T in AAB59374 (PubMed:2824475).Curated | 1 | |
| Sequence conflicti | 549 | P → D in CAA68709 (PubMed:3421913).Curated | 1 | |
| Sequence conflicti | 828 | V → A in CAA23761 (PubMed:6687691).Curated | 1 | |
| Sequence conflicti | 831 | T → P in CAA23761 (PubMed:6687691).Curated | 1 | |
| Sequence conflicti | 837 | V → P in CAA23761 (PubMed:6687691).Curated | 1 | |
| Sequence conflicti | 980 | E → V in AAA51996 (PubMed:6267597).Curated | 1 | |
| Sequence conflicti | 1098 | P → L in CAA23761 (PubMed:6687691).Curated | 1 | |
| Sequence conflicti | 1122 – 1125 | Missing in CAA23761 (PubMed:6687691).Curated | 4 | |
| Sequence conflicti | 1338 | R → A in AAA51887 (PubMed:6309769).Curated | 1 |
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_030116 | 59 | T → P1 PublicationCorresponds to variant dbSNP:rs1800221Ensembl. | 1 | |
| Natural variantiVAR_001851 | 76 – 93 | Missing in EDSARTH2. 3 PublicationsAdd BLAST | 18 | |
| Natural variantiVAR_030117 | 181 – 198 | Missing in OI4. 1 PublicationAdd BLAST | 18 | |
| Natural variantiVAR_063343 | 193 | G → S in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656370EnsemblClinVar. | 1 | |
| Natural variantiVAR_063344 | 202 | G → R in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656376Ensembl. | 1 | |
| Natural variantiVAR_001852 | 211 | G → D in OI1. 1 PublicationCorresponds to variant dbSNP:rs72656378Ensembl. | 1 | |
| Natural variantiVAR_063345 | 234 | R → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs1206388800Ensembl. | 1 | |
| Natural variantiVAR_063346 | 247 | G → R in OI1. 1 Publication | 1 | |
| Natural variantiVAR_001853 | 249 | I → N1 PublicationCorresponds to variant dbSNP:rs1800228Ensembl. | 1 | |
| Natural variantiVAR_063347 | 253 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72656385Ensembl. | 1 | |
| Natural variantiVAR_063348 | 256 | G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs67525025EnsemblClinVar. | 1 | |
| Natural variantiVAR_030118 | 270 | V → I1 PublicationCorresponds to variant dbSNP:rs368468EnsemblClinVar. | 1 | |
| Natural variantiVAR_001854 | 276 | A → T1 PublicationCorresponds to variant dbSNP:rs1800231Ensembl. | 1 | |
| Natural variantiVAR_063349 | 283 | G → R in OI2. 1 Publication | 1 | |
| Natural variantiVAR_063350 | 319 | G → R in OI1. 1 PublicationCorresponds to variant dbSNP:rs72656393Ensembl. | 1 | |
| Natural variantiVAR_063351 | 325 | G → E in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656395Ensembl. | 1 | |
| Natural variantiVAR_001855 | 328 | G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant dbSNP:rs66612022EnsemblClinVar. | 1 | |
| Natural variantiVAR_008119 | 331 | G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs67729041EnsemblClinVar. | 1 | |
| Natural variantiVAR_001856 | 334 | G → C in OI2. | 1 | |
| Natural variantiVAR_001857 | 337 | G → C in OI3. 1 PublicationCorresponds to variant dbSNP:rs67865220EnsemblClinVar. | 1 | |
| Natural variantiVAR_001858 | 337 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs67865220EnsemblClinVar. | 1 | |
| Natural variantiVAR_055677 | 344 | L → V. Corresponds to variant dbSNP:rs16868573Ensembl. | 1 | |
| Natural variantiVAR_001859 | 345 | Missing in OI3. 1 Publication | 1 | |
| Natural variantiVAR_001860 | 349 | G → C in OI3. 2 PublicationsCorresponds to variant dbSNP:rs66773001EnsemblClinVar. | 1 | |
| Natural variantiVAR_063352 | 358 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs66619856EnsemblClinVar. | 1 | |
| Natural variantiVAR_063353 | 397 | G → E in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001861 | 409 | G → V in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658109Ensembl. | 1 | |
| Natural variantiVAR_001862 | 433 | G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658114Ensembl. | 1 | |
| Natural variantiVAR_063354 | 454 | G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658117EnsemblClinVar. | 1 | |
| Natural variantiVAR_063355 | 457 | G → L in OI2; requires 2 nucleotide substitutions. 1 Publication | 1 | |
| Natural variantiVAR_001863 | 460 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658118EnsemblClinVar. | 1 | |
| Natural variantiVAR_063356 | 461 – 466 | Missing in OI2. 1 Publication | 6 | |
| Natural variantiVAR_030119 | 483 | A → V2 PublicationsCorresponds to variant dbSNP:rs414408Ensembl. | 1 | |
| Natural variantiVAR_001864 | 511 | G → D in OI2. Corresponds to variant dbSNP:rs66999265Ensembl. | 1 | |
| Natural variantiVAR_001865 | 517 | G → R in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658126Ensembl. | 1 | |
| Natural variantiVAR_063357 | 526 | G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658130Ensembl. | 1 | |
| Natural variantiVAR_033040 | 528 | N → S1 PublicationCorresponds to variant dbSNP:rs41317144Ensembl. | 1 | |
| Natural variantiVAR_001866 | 547 | G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658136Ensembl. | 1 | |
| Natural variantiVAR_001867 | 549 | P → A7 PublicationsCorresponds to variant dbSNP:rs42524EnsemblClinVar. | 1 | |
| Natural variantiVAR_001868 | 562 | G → C in OI2. Corresponds to variant dbSNP:rs72658138Ensembl. | 1 | |
| Natural variantiVAR_063358 | 562 | G → V in OI2. 1 Publication | 1 | |
| Natural variantiVAR_033041 | 564 | A → T1 PublicationCorresponds to variant dbSNP:rs41317153EnsemblClinVar. | 1 | |
| Natural variantiVAR_001869 | 586 | G → R in OI2. Corresponds to variant dbSNP:rs72658139Ensembl. | 1 | |
| Natural variantiVAR_001870 | 592 | G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658141Ensembl. | 1 | |
| Natural variantiVAR_063359 | 601 | G → S in OI. 1 PublicationCorresponds to variant dbSNP:rs72658143EnsemblClinVar. | 1 | |
| Natural variantiVAR_063360 | 625 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658145Ensembl. | 1 | |
| Natural variantiVAR_001871 | 634 | G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658147Ensembl. | 1 | |
| Natural variantiVAR_001872 | 637 | G → D in OI2. Corresponds to variant dbSNP:rs72658148Ensembl. | 1 | |
| Natural variantiVAR_001873 | 640 | G → S in OI2. | 1 | |
| Natural variantiVAR_001874 | 670 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658155Ensembl. | 1 | |
| Natural variantiVAR_030120 | 676 – 855 | Missing in OI2. 1 PublicationAdd BLAST | 180 | |
| Natural variantiVAR_063361 | 676 | G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs66883877EnsemblClinVar. | 1 | |
| Natural variantiVAR_001875 | 676 | G → V in OI3 and OI4. 2 PublicationsCorresponds to variant dbSNP:rs66883877EnsemblClinVar. | 1 | |
| Natural variantiVAR_030121 | 678 | P → H5 PublicationsCorresponds to variant dbSNP:rs409108Ensembl. | 1 | |
| Natural variantiVAR_063362 | 705 – 707 | Missing in OI2. 1 Publication | 3 | |
| Natural variantiVAR_001876 | 708 | R → Q Found in a patient with a variant form of Marfan syndrome; unknown pathological significance. Corresponds to variant dbSNP:rs72658163EnsemblClinVar. | 1 | |
| Natural variantiVAR_001877 | 715 | G → D in OI2. Corresponds to variant dbSNP:rs72658167Ensembl. | 1 | |
| Natural variantiVAR_001878 | 730 | G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658171Ensembl. | 1 | |
| Natural variantiVAR_063363 | 733 | G → C in OI1. 1 PublicationCorresponds to variant dbSNP:rs72658172Ensembl. | 1 | |
| Natural variantiVAR_001879 | 736 | G → C in OI1; mild. 2 PublicationsCorresponds to variant dbSNP:rs72658173Ensembl. | 1 | |
| Natural variantiVAR_063364 | 739 | G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658174Ensembl. | 1 | |
| Natural variantiVAR_001880 | 743 | A → G3 PublicationsCorresponds to variant dbSNP:rs408535Ensembl. | 1 | |
| Natural variantiVAR_063365 | 748 | G → V in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001881 | 751 | G → S in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658176EnsemblClinVar. | 1 | |
| Natural variantiVAR_063366 | 754 | G → C in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658177EnsemblClinVar. | 1 | |
| Natural variantiVAR_001882 | 754 | G → R in OI2. | 1 | |
| Natural variantiVAR_001883 | 766 | G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658183Ensembl. | 1 | |
| Natural variantiVAR_001884 | 778 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658186EnsemblClinVar. | 1 | |
| Natural variantiVAR_001885 | 784 | G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs66592844Ensembl. | 1 | |
| Natural variantiVAR_001886 | 787 | G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658187Ensembl. | 1 | |
| Natural variantiVAR_001887 | 790 | G → D in OI2. 2 PublicationsCorresponds to variant dbSNP:rs72658188Ensembl. | 1 | |
| Natural variantiVAR_001888 | 796 | G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs66716547Ensembl. | 1 | |
| Natural variantiVAR_063367 | 798 | P → PP in OI2. 1 Publication | 1 | |
| Natural variantiVAR_063368 | 806 – 811 | Missing in OI2. 1 Publication | 6 | |
| Natural variantiVAR_063369 | 811 | G → GPPG in OI4. | 1 | |
| Natural variantiVAR_063370 | 820 | G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658191Ensembl. | 1 | |
| Natural variantiVAR_001889 | 822 | R → H1 PublicationCorresponds to variant dbSNP:rs1800240Ensembl. | 1 | |
| Natural variantiVAR_063371 | 835 | G → C in OI3. 1 Publication | 1 | |
| Natural variantiVAR_001890 | 835 | G → S in OI1. 1 PublicationCorresponds to variant dbSNP:rs72658193Ensembl. | 1 | |
| Natural variantiVAR_063372 | 856 | G → R in OI3. 1 Publication | 1 | |
| Natural variantiVAR_063373 | 856 | G → V in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001891 | 877 | G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658201Ensembl. | 1 | |
| Natural variantiVAR_001892 | 892 | G → D in OI3 and OI4. 1 PublicationCorresponds to variant dbSNP:rs72659304Ensembl. | 1 | |
| Natural variantiVAR_001893 | 895 | G → D in OI2. Corresponds to variant dbSNP:rs72659305Ensembl. | 1 | |
| Natural variantiVAR_001894 | 949 | G → S in OI3; moderate. 2 PublicationsCorresponds to variant dbSNP:rs72659312Ensembl. | 1 | |
| Natural variantiVAR_063374 | 955 | G → D in OI2. 1 Publication | 1 | |
| Natural variantiVAR_001895 | 955 | G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs66507857Ensembl. | 1 | |
| Natural variantiVAR_008120 | 973 | G → V in OI3. 1 PublicationCorresponds to variant dbSNP:rs67609234EnsemblClinVar. | 1 | |
| Natural variantiVAR_063375 | 982 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs67422093Ensembl. | 1 | |
| Natural variantiVAR_063376 | 989 | P → PVGP in OI4. | 1 | |
| Natural variantiVAR_063377 | 991 | G → V in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659316Ensembl. | 1 | |
| Natural variantiVAR_001896 | 997 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72659317Ensembl. | 1 | |
| Natural variantiVAR_063378 | 1003 | G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs1114167414Ensembl. | 1 | |
| Natural variantiVAR_001897 | 1012 | G → S in OI3 and OI4; moderate. 2 PublicationsCorresponds to variant dbSNP:rs72659319EnsemblClinVar. | 1 | |
| Natural variantiVAR_001898 | 1022 | L → F3 PublicationsCorresponds to variant dbSNP:rs392609Ensembl. | 1 | |
| Natural variantiVAR_063379 | 1027 | G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72659323Ensembl. | 1 | |
| Natural variantiVAR_063380 | 1058 – 1062 | Missing in OI2. 1 Publication | 5 | |
| Natural variantiVAR_001899 | 1066 | G → D in OI2. Corresponds to variant dbSNP:rs72659331Ensembl. | 1 | |
| Natural variantiVAR_069633 | 1067 | R → H1 PublicationCorresponds to variant dbSNP:rs530026906Ensembl. | 1 | |
| Natural variantiVAR_001900 | 1078 | G → C in OI2. | 1 | |
| Natural variantiVAR_063381 | 1087 | G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659335Ensembl. | 1 | |
| Natural variantiVAR_063382 | 1094 – 1096 | Missing in OI4. 1 Publication | 3 | |
| Natural variantiVAR_001901 | 1096 | G → A in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659337Ensembl. | 1 | |
| Natural variantiVAR_001903 | 1101 | P → L. | 1 | |
| Natural variantiVAR_001902 | 1102 | G → R in OI4. 1 PublicationCorresponds to variant dbSNP:rs67768540Ensembl. | 1 | |
| Natural variantiVAR_066386 | 1119 | A → T Found 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. 1 Publication | 1 | |
| Natural variantiVAR_001904 | 1148 | T → P in OI3. 1 PublicationCorresponds to variant dbSNP:rs1800250Ensembl. | 1 | |
| Natural variantiVAR_001905 | 1189 | D → E3 PublicationsCorresponds to variant dbSNP:rs422361Ensembl. | 1 | |
| Natural variantiVAR_063383 | 1195 | C → Y in OI1. 1 PublicationCorresponds to variant dbSNP:rs72659342Ensembl. | 1 | |
| Natural variantiVAR_001906 | 1198 | S → P3 PublicationsCorresponds to variant dbSNP:rs384487Ensembl. | 1 | |
| Natural variantiVAR_030122 | 1354 | Q → H7 PublicationsCorresponds to variant dbSNP:rs418570Ensembl. | 1 |
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J03464 mRNA Translation: AAB59374.1 Z74616 mRNA Translation: CAA98969.1 AF004877 Genomic DNA Translation: AAB93981.1 BC042586 mRNA Translation: AAH42586.1 BC054498 mRNA Translation: AAH54498.1 Y00724 mRNA Translation: CAA68709.1 X02488 mRNA Translation: CAA26320.1 AB004317 Genomic DNA Translation: BAA25383.1 M35391 Genomic DNA Translation: AAA60041.1 S98904 Genomic DNA Translation: AAB22126.1 M21671 Genomic DNA Translation: AAA59994.1 S41099 mRNA Translation: AAB22761.1 AC002528 Genomic DNA Translation: AAB69977.1 M21353 Genomic DNA Translation: AAA52053.1 M28985 Genomic DNA Translation: AAA60356.1 V00503 mRNA Translation: CAA23761.1 S96821 mRNA Translation: AAB22020.2 L47668 mRNA Translation: AAB59577.1 X55525 mRNA Translation: CAA39142.1 J00114 mRNA Translation: AAA51996.1 M22816 mRNA Translation: AAA51844.1 M22817 Genomic DNA Translation: AAA51846.1 K01078 Genomic DNA Translation: AAA51887.1 K02568 Genomic DNA Translation: AAA51850.1 |
| CCDSi | CCDS34682.1 |
| PIRi | A28500 CGHU2S |
| RefSeqi | NP_000080.2, NM_000089.3 |
| UniGenei | Hs.489142 |
Genome annotation databases
| Ensembli | ENST00000297268; ENSP00000297268; ENSG00000164692 |
| GeneIDi | 1278 |
| KEGGi | hsa:1278 |
| UCSCi | uc003ung.1 human |
Keywords - Coding sequence diversityi
Chromosomal rearrangement, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
| Atlas of Genetics and Cytogenetics in Oncology and Haematology |
| Osteogenesis imperfecta variant database Collagen type I alpha 2 (COL1A2) |
Sequence databases
| Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J03464 mRNA Translation: AAB59374.1 Z74616 mRNA Translation: CAA98969.1 AF004877 Genomic DNA Translation: AAB93981.1 BC042586 mRNA Translation: AAH42586.1 BC054498 mRNA Translation: AAH54498.1 Y00724 mRNA Translation: CAA68709.1 X02488 mRNA Translation: CAA26320.1 AB004317 Genomic DNA Translation: BAA25383.1 M35391 Genomic DNA Translation: AAA60041.1 S98904 Genomic DNA Translation: AAB22126.1 M21671 Genomic DNA Translation: AAA59994.1 S41099 mRNA Translation: AAB22761.1 AC002528 Genomic DNA Translation: AAB69977.1 M21353 Genomic DNA Translation: AAA52053.1 M28985 Genomic DNA Translation: AAA60356.1 V00503 mRNA Translation: CAA23761.1 S96821 mRNA Translation: AAB22020.2 L47668 mRNA Translation: AAB59577.1 X55525 mRNA Translation: CAA39142.1 J00114 mRNA Translation: AAA51996.1 M22816 mRNA Translation: AAA51844.1 M22817 Genomic DNA Translation: AAA51846.1 K01078 Genomic DNA Translation: AAA51887.1 K02568 Genomic DNA Translation: AAA51850.1 |
| CCDSi | CCDS34682.1 |
| PIRi | A28500 CGHU2S |
| RefSeqi | NP_000080.2, NM_000089.3 |
| UniGenei | Hs.489142 |
3D structure databases
| Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 5CTD | X-ray | 1.60 | B | 484-495 | [»] | |
| 5CTI | X-ray | 1.90 | B | 484-495 | [»] | |
| 5CVA | X-ray | 2.10 | A/D | 484-495 | [»] | |
| ProteinModelPortali | P08123 | |||||
| SMRi | P08123 | |||||
| ModBasei | Search... | |||||
| MobiDBi | Search... | |||||
Protein-protein interaction databases
| BioGridi | 107675, 23 interactors |
| ComplexPortali | CPX-1650 Collagen type I trimer |
| DIPi | DIP-36079N |
| IntActi | P08123, 23 interactors |
| MINTi | P08123 |
| STRINGi | 9606.ENSP00000297268 |
Chemistry databases
| ChEMBLi | CHEMBL2685 |
| DrugBanki | DB00048 Collagenase clostridium histolyticum |
PTM databases
| GlyConnecti | 1135 |
| iPTMneti | P08123 |
| PhosphoSitePlusi | P08123 |
Polymorphism and mutation databases
| BioMutai | COL1A2 |
| DMDMi | 296439507 |
Proteomic databases
| EPDi | P08123 |
| MaxQBi | P08123 |
| PaxDbi | P08123 |
| PeptideAtlasi | P08123 |
| PRIDEi | P08123 |
| ProteomicsDBi | 52070 |
Protocols and materials databases
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
| Ensembli | ENST00000297268; ENSP00000297268; ENSG00000164692 |
| GeneIDi | 1278 |
| KEGGi | hsa:1278 |
| UCSCi | uc003ung.1 human |
Organism-specific databases
| CTDi | 1278 |
| DisGeNETi | 1278 |
| EuPathDBi | HostDB:ENSG00000164692.17 |
| GeneCardsi | COL1A2 |
| GeneReviewsi | COL1A2 |
| H-InvDBi | HIX0006854 |
| HGNCi | HGNC:2198 COL1A2 |
| HPAi | CAB032650 HPA059738 |
| MalaCardsi | COL1A2 |
| MIMi | 120160 gene 166200 phenotype 166210 phenotype 166220 phenotype 225320 phenotype 259420 phenotype 617821 phenotype |
| neXtProti | NX_P08123 |
| OpenTargetsi | ENSG00000164692 |
| Orphaneti | 99876 Ehlers-Danlos syndrome type 7B 230851 Ehlers-Danlos syndrome, cardiac valvular 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 |
| PharmGKBi | PA35042 |
| GenAtlasi | Search... |
Phylogenomic databases
| eggNOGi | KOG3544 Eukaryota ENOG410XNMM LUCA |
| GeneTreei | ENSGT00900000140789 |
| HOVERGENi | HBG004933 |
| InParanoidi | P08123 |
| KOi | K06236 |
| OMAi | PTGKHGN |
| OrthoDBi | EOG091G03LV |
| PhylomeDBi | P08123 |
| TreeFami | TF344135 |
Enzyme and pathway databases
| Reactomei | R-HSA-114604 GPVI-mediated activation cascade R-HSA-1442490 Collagen degradation R-HSA-1474244 Extracellular matrix organization R-HSA-1650814 Collagen biosynthesis and modifying enzymes R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures R-HSA-202733 Cell surface interactions at the vascular wall R-HSA-216083 Integrin cell surface interactions R-HSA-2214320 Anchoring fibril formation R-HSA-2243919 Crosslinking of collagen fibrils R-HSA-3000170 Syndecan interactions R-HSA-3000171 Non-integrin membrane-ECM interactions R-HSA-3000178 ECM proteoglycans R-HSA-3000480 Scavenging by Class A Receptors R-HSA-430116 GP1b-IX-V activation signalling R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling R-HSA-75892 Platelet Adhesion to exposed collagen R-HSA-76009 Platelet Aggregation (Plug Formation) R-HSA-8874081 MET activates PTK2 signaling R-HSA-8948216 Collagen chain trimerization |
| SIGNORi | P08123 |
Miscellaneous databases
| ChiTaRSi | COL1A2 human |
| GeneWikii | COL1A2 |
| GenomeRNAii | 1278 |
| PROi | PR:P08123 |
| SOURCEi | Search... |
Gene expression databases
| Bgeei | ENSG00000164692 Expressed in 238 organ(s), highest expression level in tibia |
| ExpressionAtlasi | P08123 baseline and differential |
| Genevisiblei | P08123 HS |
Family and domain databases
| InterProi | View protein in InterPro IPR008160 Collagen IPR000885 Fib_collagen_C |
| Pfami | View protein in Pfam PF01410 COLFI, 1 hit PF01391 Collagen, 6 hits |
| ProDomi | View protein in ProDom or Entries sharing at least one domain PD002078 Fib_collagen_C, 1 hit |
| SMARTi | View protein in SMART SM00038 COLFI, 1 hit |
| PROSITEi | View protein in PROSITE PS51461 NC1_FIB, 1 hit |
| ProtoNeti | Search... |
Entry informationi
| Entry namei | CO1A2_HUMAN | |
| Accessioni | P08123Primary (citable) accession number: P08123 Secondary accession number(s): P02464 Q9UPH0 | |
| Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1988 |
| Last sequence update: | May 18, 2010 | |
| Last modified: | November 7, 2018 | |
| This is version 215 of the entry and version 7 of the sequence. See complete history. | ||
| Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Direct protein sequencing, Reference proteomeDocuments
- SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM
