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Protein

Collagen alpha-1(I) chain

Gene

COL1A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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)DescriptionActionsGraphical viewLength
Metal bindingi1277CalciumBy similarity1
Metal bindingi1279CalciumBy similarity1
Metal bindingi1280Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1282Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1285CalciumBy similarity1

GO - Molecular functioni

  • extracellular matrix structural constituent Source: Ensembl
  • identical protein binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • platelet-derived growth factor binding Source: MGI

GO - Biological processi

  • blood coagulation Source: Reactome
  • blood vessel development Source: UniProtKB
  • bone trabecula formation Source: Ensembl
  • cartilage development involved in endochondral bone morphogenesis Source: Ensembl
  • cellular response to amino acid stimulus Source: Ensembl
  • cellular response to epidermal growth factor stimulus Source: Ensembl
  • cellular response to fibroblast growth factor stimulus Source: Ensembl
  • cellular response to fluoride Source: Ensembl
  • cellular response to mechanical stimulus Source: Ensembl
  • cellular response to retinoic acid Source: Ensembl
  • cellular response to transforming growth factor beta stimulus Source: Ensembl
  • cellular response to tumor necrosis factor Source: Ensembl
  • cellular response to vitamin E Source: Ensembl
  • collagen biosynthetic process Source: UniProtKB
  • collagen catabolic process Source: Reactome
  • collagen fibril organization Source: UniProtKB
  • embryonic skeletal system development Source: UniProtKB
  • endochondral ossification Source: Ensembl
  • extracellular matrix organization Source: Reactome
  • face morphogenesis Source: Ensembl
  • intramembranous ossification Source: Ensembl
  • leukocyte migration Source: Reactome
  • negative regulation of cell-substrate adhesion Source: Ensembl
  • osteoblast differentiation Source: Ensembl
  • platelet activation Source: Reactome
  • positive regulation of canonical Wnt signaling pathway Source: UniProtKB
  • positive regulation of cell migration Source: UniProtKB
  • positive regulation of epithelial to mesenchymal transition Source: UniProtKB
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • protein heterotrimerization Source: Ensembl
  • protein localization to nucleus Source: UniProtKB
  • protein transport Source: Ensembl
  • regulation of immune response Source: Reactome
  • response to cAMP Source: Ensembl
  • response to corticosteroid Source: Ensembl
  • response to drug Source: Ensembl
  • response to estradiol Source: Ensembl
  • response to hydrogen peroxide Source: Ensembl
  • response to hyperoxia Source: Ensembl
  • response to peptide hormone Source: Ensembl
  • sensory perception of sound Source: UniProtKB
  • skeletal system development Source: UniProtKB
  • skin morphogenesis Source: UniProtKB
  • tooth eruption Source: Ensembl
  • tooth mineralization Source: UniProtKB
  • visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108821-MONOMER.
ReactomeiR-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-75892. Platelet Adhesion to exposed collagen.
R-HSA-76009. Platelet Aggregation (Plug Formation).
R-HSA-8874081. MET activates PTK2 signaling.
SIGNORiP02452.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:2197. COL1A1.

Subcellular locationi

GO - Cellular componenti

  • collagen type I trimer Source: UniProtKB
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: BHF-UCL
  • Golgi apparatus Source: Ensembl
  • secretory granule Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Caffey disease (CAFFD)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized 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.
See also OMIM:114000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0330971014R → C in CAFFD. 1 Publication1
Ehlers-Danlos syndrome, classic type (EDS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity.
See also OMIM:130000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013579312R → C in EDS. 2 Publications1
Ehlers-Danlos syndrome 7A (EDS7A)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:130060
Osteogenesis imperfecta 1 (OI1)12 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063292194G → R in OI1. 1 Publication1
Natural variantiVAR_063294200G → V in OI1; patient diagnosed with OI1/OI4. 1 Publication1
Natural variantiVAR_001644221G → C in OI1; mild form. 1 Publication1
Natural variantiVAR_001645224G → C in OI1; mild phenotype. 1
Natural variantiVAR_001646263G → R in OI1; mild form. 1 Publication1
Natural variantiVAR_001647263G → V in OI1; mild form. 1 Publication1
Natural variantiVAR_063298266G → E in OI1. 1 Publication1
Natural variantiVAR_001648272G → C in OI1. 1 Publication1
Natural variantiVAR_063299287G → S in OI1. 1 Publication1
Natural variantiVAR_063300288E → K in OI1; the patient also has mutation Glu-1219; unknown pathological significance. 1 Publication1
Natural variantiVAR_063302320G → V in OI1. 1 Publication1
Natural variantiVAR_063304349V → F in OI1. 1 Publication1
Natural variantiVAR_063313555P → R in OI1. 1 Publication1
Natural variantiVAR_063319647G → S in OI1. 1 Publication1
Natural variantiVAR_063321722G → S in OI1. 1 Publication1
Natural variantiVAR_0017141079G → S in OI1 and OI2; mild to moderate form. 1 Publication1
Natural variantiVAR_0741591088G → E in OI1; de novo mutation; unknown pathological significance. 1 Publication1
Natural variantiVAR_0633381157G → D in OI1. 1 Publication1
Natural variantiVAR_0017311195G → C in OI1; mild form. 2 Publications1
Natural variantiVAR_0633391219D → E in OI1. 1 Publication1
Osteogenesis imperfecta 2 (OI2)39 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06329022G → R in OI2. 1 Publication1
Natural variantiVAR_063291146P → T in OI2; rare variant; unknown pathological significance. 1 Publication1
Natural variantiVAR_001649275G → D in OI2. 1
Natural variantiVAR_063301288E → V in OI2; rare variant; unknown pathological significance. 1 Publication1
Natural variantiVAR_063305353G → D in OI2. 1 Publication1
Natural variantiVAR_063307368G → V in OI2. 1 Publication1
Natural variantiVAR_001656389G → R in OI2. 1 Publication1
Natural variantiVAR_063308390A → T in OI2; rare variant; unknown pathological significance. 1 PublicationCorresponds to variant rs116794104dbSNPEnsembl.1
Natural variantiVAR_001658398G → D in OI2. 1
Natural variantiVAR_001661422G → C in OI2. 1 Publication1
Natural variantiVAR_001662425G → S in OI2; lethal form. 2 Publications1
Natural variantiVAR_001663434G → V in OI2. 2 Publications1
Natural variantiVAR_063309455G → D in OI2. 1 Publication1
Natural variantiVAR_063310470G → V in OI2. 1 Publication1
Natural variantiVAR_001664476G → R in OI2. Corresponds to variant rs57377812dbSNPEnsembl.1
Natural variantiVAR_063311509G → V in OI2. 1 Publication1
Natural variantiVAR_001666530G → S in OI2, OI3 and OI4; mild to lethal form. 3 Publications1
Natural variantiVAR_001667533G → D in OI2. 1
Natural variantiVAR_063312548G → A in OI2. 1 Publication1
Natural variantiVAR_001670560G → R in OI2. 1
Natural variantiVAR_001672569G → R in OI2. 1 Publication1
Natural variantiVAR_063315581G → R in OI2. 1 Publication1
Natural variantiVAR_001674593G → S in OI2 and OI3; moderate to lethal form. 1 Publication1
Natural variantiVAR_063316602G → R in OI2. 1 Publication1
Natural variantiVAR_063317605G → D in OI2. 1 Publication1
Natural variantiVAR_063318614G → R in OI2. 1 Publication1
Natural variantiVAR_001676656G → S in OI2. 1 Publication1
Natural variantiVAR_001679719G → D in OI2. 1 Publication1
Natural variantiVAR_001681728G → R in OI2. 1 Publication1
Natural variantiVAR_063322734G → V in OI2. 1 Publication1
Natural variantiVAR_001682737G → D in OI2. 1
Natural variantiVAR_063323740G → R in OI2. 1 Publication1
Natural variantiVAR_001683743G → S in OI2. 1
Natural variantiVAR_001684743G → V in OI2. 1 Publication1
Natural variantiVAR_001685764G → V in OI2. 1 Publication1
Natural variantiVAR_074158773G → C in OI2; de novo mutation. 1 Publication1
Natural variantiVAR_001687776G → S in OI2. 1 Publication1
Natural variantiVAR_001688809G → S in OI2. 2 Publications1
Natural variantiVAR_001689815G → V in OI2. 1 Publication1
Natural variantiVAR_063324824G → R in OI2. 1 Publication1
Natural variantiVAR_063325833G → D in OI2. 1 Publication1
Natural variantiVAR_001692839G → S in OI2; mild to moderate form. 1 Publication1
Natural variantiVAR_001693842G → R in OI2. 1 Publication1
Natural variantiVAR_001694845G → R in OI2. 1 Publication1
Natural variantiVAR_063342848G → R in OI2. 1 Publication1
Natural variantiVAR_001695851G → D in OI2. 1
Natural variantiVAR_063326855N → H in OI2; rare variant; unknown pathological significance. 1 Publication1
Natural variantiVAR_008118866G → S in OI3 and OI2. 3 Publications1
Natural variantiVAR_001696869G → C in OI2. 1 Publication1
Natural variantiVAR_063327875G → S in OI2. 1 Publication1
Natural variantiVAR_001697884G → S in OI2 and OI3; extremely severe form. 1 Publication1
Natural variantiVAR_001698896G → C in OI2. 1 Publication1
Natural variantiVAR_063328896G → D in OI2. 1 Publication1
Natural variantiVAR_001699926G → C in OI2. 2 Publications1
Natural variantiVAR_063330947G → C in OI2. 1 Publication1
Natural variantiVAR_063331977G → D in OI2. 1 Publication1
Natural variantiVAR_001700980G → V in OI2. 1 Publication1
Natural variantiVAR_0633321001G → C in OI2. 1 Publication1
Natural variantiVAR_0017031022G → V in OI2. 1 Publication1
Natural variantiVAR_0017041025G → R in OI2. 1 Publication1
Natural variantiVAR_0017051040G → S in OI2 and OI3; moderate to lethal form. 2 Publications1
Natural variantiVAR_0017061043G → S in OI2. 1
Natural variantiVAR_0017071046 – 1048Missing in OI2. 2 Publications3
Natural variantiVAR_0633331052G → GAPG in OI2. 1
Natural variantiVAR_0633341055G → D in OI2. 1 Publication1
Natural variantiVAR_0017101061G → D in OI2. 1
Natural variantiVAR_0017141079G → S in OI1 and OI2; mild to moderate form. 1 Publication1
Natural variantiVAR_0017151082G → C in OI2. 1 Publication1
Natural variantiVAR_0017161088G → A in OI2. 1 Publication1
Natural variantiVAR_0017171091G → S in OI2. 1 Publication1
Natural variantiVAR_0633371094G → S in OI2. 1 Publication1
Natural variantiVAR_0017181100G → D in OI2. 1 Publication1
Natural variantiVAR_0017191106G → A in OI2. 1 Publication1
Natural variantiVAR_0017201124G → C in OI2. 1 Publication1
Natural variantiVAR_0017211142G → S in OI2. 1
Natural variantiVAR_0017231151G → V in OI2. 2 Publications1
Natural variantiVAR_0017241154G → R in OI2. 1 Publication1
Natural variantiVAR_0017251166G → C in OI2. 1 Publication1
Natural variantiVAR_0017261172G → D in OI2. 1 Publication1
Natural variantiVAR_0017271181G → S in OI2. 2 Publications1
Natural variantiVAR_0017281184G → V in OI2. 2 Publications1
Natural variantiVAR_0017291187G → S in OI2 and OI3; extremely severe form. 1 Publication1
Natural variantiVAR_0017301187G → V in OI2. 1 Publication1
Natural variantiVAR_0017321277D → H in OI2; impaired pro-alpha chain association. 1 Publication1
Natural variantiVAR_0017331312W → C in OI2. 1 Publication1
Natural variantiVAR_0017341337 – 1338Missing in OI2; impaired pro-alpha chain association. 1 Publication2
Natural variantiVAR_0017351388L → R in OI2; impaired pro-alpha chain association. 1 Publication1
Natural variantiVAR_0633411413D → N in OI2. 2 Publications1
Osteogenesis 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063295203G → V in OI3. 1 Publication1
Natural variantiVAR_001650332G → R in OI3; mild to moderate form. 2 Publications1
Natural variantiVAR_001651350G → R in OI3. 1 Publication1
Natural variantiVAR_001666530G → S in OI2, OI3 and OI4; mild to lethal form. 3 Publications1
Natural variantiVAR_001673593G → C in OI3 and OI4. 1 Publication1
Natural variantiVAR_001674593G → S in OI2 and OI3; moderate to lethal form. 1 Publication1
Natural variantiVAR_001678704G → C in OI3. 1 Publication1
Natural variantiVAR_001680719G → S in OI3. 1 Publication1
Natural variantiVAR_001686767G → S in OI3; severe. 2 Publications1
Natural variantiVAR_001690821G → S in OI3. 3 Publications1
Natural variantiVAR_008118866G → S in OI3 and OI2. 3 Publications1
Natural variantiVAR_001697884G → S in OI2 and OI3; extremely severe form. 1 Publication1
Natural variantiVAR_0017021022G → S in OI3; severe form. 1 Publication1
Natural variantiVAR_0017051040G → S in OI2 and OI3; moderate to lethal form. 2 Publications1
Natural variantiVAR_0017081049G → S in OI3. 1 Publication1
Natural variantiVAR_0017091058G → S in OI3 and OI4; mild form. 2 Publications1
Natural variantiVAR_0017131076G → S in OI3; severe form. 1 Publication1
Natural variantiVAR_0017221151G → S in OI3. 1
Natural variantiVAR_0017291187G → S in OI2 and OI3; extremely severe form. 1 Publication1
Natural variantiVAR_0017371464L → P in OI3. 1 Publication1
Osteogenesis imperfecta 4 (OI4)11 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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063293197G → R in OI4. 1 Publication1
Natural variantiVAR_063294200G → V in OI1; patient diagnosed with OI1/OI4. 1 Publication1
Natural variantiVAR_063297257G → R in OI4. 2 Publications1
Natural variantiVAR_063303338G → C in OI4. 1 Publication1
Natural variantiVAR_001652353G → C in OI4. 1 Publication1
Natural variantiVAR_063306353G → S in OI4. 1 Publication1
Natural variantiVAR_001653356G → C in OI4; mild form. 1 Publication1
Natural variantiVAR_001654383G → C in OI4. 1
Natural variantiVAR_001657398G → A in OI4. 1 Publication1
Natural variantiVAR_001659401G → C in OI4. 1
Natural variantiVAR_001665527G → C in OI4. 1 Publication1
Natural variantiVAR_001666530G → S in OI2, OI3 and OI4; mild to lethal form. 3 Publications1
Natural variantiVAR_001669560G → C in OI4. 1
Natural variantiVAR_001668560G → S in OI4. 1 Publication1
Natural variantiVAR_001673593G → C in OI3 and OI4. 1 Publication1
Natural variantiVAR_063320683G → S in OI4. 1 Publication1
Natural variantiVAR_001677701G → C in OI4. 1 Publication1
Natural variantiVAR_0017011010G → S in OI4. 1 Publication1
Natural variantiVAR_0017091058G → S in OI3 and OI4; mild form. 2 Publications1
Natural variantiVAR_0017111061G → S in OI4. 1 Publication1
Osteoporosis (OSTEOP)2 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:166710

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

DisGeNETi1277.
MalaCardsiCOL1A1.
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.

Chemistry databases

ChEMBLiCHEMBL2364188.
DrugBankiDB00048. Collagenase clostridium histolyticum.

Polymorphism and mutation databases

BioMutaiCOL1A1.
DMDMi296439504.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22Add BLAST22
PropeptideiPRO_000000571923 – 161N-terminal propeptide1 PublicationAdd BLAST139
ChainiPRO_0000005720162 – 1218Collagen alpha-1(I) chainAdd BLAST1057
PropeptideiPRO_00000057211219 – 1464C-terminal propeptideAdd BLAST246

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei162Pyrrolidone carboxylic acid1 Publication1
Modified residuei170Allysine1
Modified residuei171PhosphoserineBy similarity1
Modified residuei2655-hydroxylysine; alternate1 Publication1
Glycosylationi265O-linked (Gal...); alternate1 Publication1
Modified residuei271PhosphoserineBy similarity1
Modified residuei787PhosphoserineBy similarity1
Modified residuei11085-hydroxylysine; alternateBy similarity1
Glycosylationi1108O-linked (Gal...); alternateBy similarity1
Modified residuei11643-hydroxyprolineBy similarity1
Modified residuei1208AllysineBy similarity1
Disulfide bondi1259 ↔ 1291PROSITE-ProRule annotation
Disulfide bondi1265InterchainPROSITE-ProRule annotation
Disulfide bondi1282InterchainPROSITE-ProRule annotation
Disulfide bondi1299 ↔ 1462PROSITE-ProRule annotation
Glycosylationi1365N-linked (GlcNAc...)1
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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei161 – 162Cleavage; by procollagen N-endopeptidase2
Sitei953 – 954Cleavage; by collagenaseBy similarity2
Sitei1218 – 1219Cleavage; by procollagen C-endopeptidase2

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Phosphoprotein, Pyrrolidone carboxylic acid

Proteomic databases

EPDiP02452.
MaxQBiP02452.
PaxDbiP02452.
PeptideAtlasiP02452.
PRIDEiP02452.

2D gel databases

DOSAC-COBS-2DPAGEP02452.

PTM databases

iPTMnetiP02452.
PhosphoSitePlusiP02452.

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

BgeeiENSG00000108821.
ExpressionAtlasiP02452. baseline and differential.
GenevisibleiP02452. HS.

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 (PubMed:14749390). Interacts with MFAP4 in a Ca (2+)-dependent manner (By similarity).By similarity1 Publication

Binary interactionsi

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

GO - Molecular functioni

  • identical protein binding Source: UniProtKB
  • platelet-derived growth factor binding Source: MGI

Protein-protein interaction databases

BioGridi107674. 46 interactors.
DIPiDIP-36077N.
IntActiP02452. 20 interactors.
STRINGi9606.ENSP00000225964.

Structurei

Secondary structure

11464
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi264 – 266Combined sources3
Helixi618 – 626Combined sources9
Helixi629 – 634Combined sources6
Helixi648 – 655Combined sources8
Beta strandi966 – 968Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Q7DX-ray1.80A/B/C677-685[»]
2LLPNMR-A/B/C949-965[»]
3EJHX-ray2.10E/F956-977[»]
3GXEX-ray2.60E/F254-275[»]
5CTDX-ray1.60A572-583[»]
C554-583[»]
5CTIX-ray1.90A572-583[»]
C554-583[»]
C611-665[»]
5CVAX-ray2.10B/C/E/F554-583[»]
B/E593-629[»]
5CVBX-ray2.25A/D572-583[»]
B/C/E/F554-583[»]
B/E593-606[»]
ProteinModelPortaliP02452.
SMRiP02452.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02452.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini38 – 96VWFCPROSITE-ProRule annotationAdd BLAST59
Domaini1229 – 1464Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST236

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni162 – 178Nonhelical region (N-terminal)Add BLAST17
Regioni179 – 1192Triple-helical regionAdd BLAST1014
Regioni1193 – 1218Nonhelical region (C-terminal)Add BLAST26

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi745 – 747Cell attachment siteSequence analysis3
Motifi1093 – 1095Cell attachment siteSequence analysis3

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

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
HOVERGENiHBG004933.
InParanoidiP02452.
KOiK06236.
OrthoDBiEOG091G03LV.
PhylomeDBiP02452.
TreeFamiTF344135.

Family and domain databases

InterProiIPR008160. Collagen.
IPR000885. Fib_collagen_C.
IPR001007. VWF_dom.
[Graphical view]
PfamiPF01410. COLFI. 1 hit.
PF01391. Collagen. 11 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

        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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti59R → Q in CAA25394 (PubMed:6462220).Curated1
Sequence conflicti112 – 114Missing in AAB94054 (PubMed:9443882).Curated3
Sequence conflicti288E → P AA sequence (PubMed:2169412).Curated1
Sequence conflicti370R → L in AAB59373 (PubMed:2843432).Curated1
Sequence conflicti484P → L in AAA52289 (PubMed:6183642).Curated1
Sequence conflicti595A → R in AAA51847 (PubMed:2981843).Curated1
Sequence conflicti721Q → E no nucleotide entry (PubMed:2339700).Curated1
Sequence conflicti738L → E no nucleotide entry (PubMed:2339700).Curated1
Sequence conflicti975 – 976LP → PL in AAA52291 (PubMed:6183642).Curated2
Sequence conflicti1081V → A in AAA51995 (PubMed:6689127).Curated1
Sequence conflicti1329S → T in AAB27856 (PubMed:8349697).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06329022G → R in OI2. 1 Publication1
Natural variantiVAR_063291146P → T in OI2; rare variant; unknown pathological significance. 1 Publication1
Natural variantiVAR_063292194G → R in OI1. 1 Publication1
Natural variantiVAR_001642197G → C.Corresponds to variant rs8179178dbSNPEnsembl.1
Natural variantiVAR_063293197G → R in OI4. 1 Publication1
Natural variantiVAR_063294200G → V in OI1; patient diagnosed with OI1/OI4. 1 Publication1
Natural variantiVAR_063295203G → V in OI3. 1 Publication1
Natural variantiVAR_001643205P → A.1 PublicationCorresponds to variant rs72667032dbSNPEnsembl.1
Natural variantiVAR_001644221G → C in OI1; mild form. 1 Publication1
Natural variantiVAR_001645224G → C in OI1; mild phenotype. 1
Natural variantiVAR_063296242G → D in OI. 1 Publication1
Natural variantiVAR_063297257G → R in OI4. 2 Publications1
Natural variantiVAR_001646263G → R in OI1; mild form. 1 Publication1
Natural variantiVAR_001647263G → V in OI1; mild form. 1 Publication1
Natural variantiVAR_063298266G → E in OI1. 1 Publication1
Natural variantiVAR_001648272G → C in OI1. 1 Publication1
Natural variantiVAR_001649275G → D in OI2. 1
Natural variantiVAR_063299287G → S in OI1. 1 Publication1
Natural variantiVAR_063300288E → K in OI1; the patient also has mutation Glu-1219; unknown pathological significance. 1 Publication1
Natural variantiVAR_063301288E → V in OI2; rare variant; unknown pathological significance. 1 Publication1
Natural variantiVAR_013579312R → C in EDS. 2 Publications1
Natural variantiVAR_063302320G → V in OI1. 1 Publication1
Natural variantiVAR_001650332G → R in OI3; mild to moderate form. 2 Publications1
Natural variantiVAR_063303338G → C in OI4. 1 Publication1
Natural variantiVAR_063304349V → F in OI1. 1 Publication1
Natural variantiVAR_001651350G → R in OI3. 1 Publication1
Natural variantiVAR_001652353G → C in OI4. 1 Publication1
Natural variantiVAR_063305353G → D in OI2. 1 Publication1
Natural variantiVAR_063306353G → S in OI4. 1 Publication1
Natural variantiVAR_001653356G → C in OI4; mild form. 1 Publication1
Natural variantiVAR_063307368G → V in OI2. 1 Publication1
Natural variantiVAR_001654383G → C in OI4. 1
Natural variantiVAR_001655389G → C in OI; moderate form. 1
Natural variantiVAR_001656389G → R in OI2. 1 Publication1
Natural variantiVAR_063308390A → T in OI2; rare variant; unknown pathological significance. 1 PublicationCorresponds to variant rs116794104dbSNPEnsembl.1
Natural variantiVAR_001657398G → A in OI4. 1 Publication1
Natural variantiVAR_001658398G → D in OI2. 1
Natural variantiVAR_001659401G → C in OI4. 1
Natural variantiVAR_001660404G → C in OI; moderate form. 1
Natural variantiVAR_001661422G → C in OI2. 1 Publication1
Natural variantiVAR_001662425G → S in OI2; lethal form. 2 Publications1
Natural variantiVAR_001663434G → V in OI2. 2 Publications1
Natural variantiVAR_063309455G → D in OI2. 1 Publication1
Natural variantiVAR_063310470G → V in OI2. 1 Publication1
Natural variantiVAR_001664476G → R in OI2. Corresponds to variant rs57377812dbSNPEnsembl.1
Natural variantiVAR_063311509G → V in OI2. 1 Publication1
Natural variantiVAR_001665527G → C in OI4. 1 Publication1
Natural variantiVAR_001666530G → S in OI2, OI3 and OI4; mild to lethal form. 3 Publications1
Natural variantiVAR_001667533G → D in OI2. 1
Natural variantiVAR_063312548G → A in OI2. 1 Publication1
Natural variantiVAR_063313555P → R in OI1. 1 Publication1
Natural variantiVAR_001669560G → C in OI4. 1
Natural variantiVAR_001670560G → R in OI2. 1
Natural variantiVAR_001668560G → S in OI4. 1 Publication1
Natural variantiVAR_001671564R → H.Corresponds to variant rs1800211dbSNPEnsembl.1
Natural variantiVAR_001672569G → R in OI2. 1 Publication1
Natural variantiVAR_063314574R → C Found in a patient with isolated osteopenia and vascular rupture; unknown pathological significance. 1 Publication1
Natural variantiVAR_063315581G → R in OI2. 1 Publication1
Natural variantiVAR_001673593G → C in OI3 and OI4. 1 Publication1
Natural variantiVAR_001674593G → S in OI2 and OI3; moderate to lethal form. 1 Publication1
Natural variantiVAR_063316602G → R in OI2. 1 Publication1
Natural variantiVAR_063317605G → D in OI2. 1 Publication1
Natural variantiVAR_063318614G → R in OI2. 1 Publication1
Natural variantiVAR_063319647G → S in OI1. 1 Publication1
Natural variantiVAR_001676656G → S in OI2. 1 Publication1
Natural variantiVAR_063320683G → S in OI4. 1 Publication1
Natural variantiVAR_001677701G → C in OI4. 1 Publication1
Natural variantiVAR_001678704G → C in OI3. 1 Publication1
Natural variantiVAR_001679719G → D in OI2. 1 Publication1
Natural variantiVAR_001680719G → S in OI3. 1 Publication1
Natural variantiVAR_063321722G → S in OI1. 1 Publication1
Natural variantiVAR_001681728G → R in OI2. 1 Publication1
Natural variantiVAR_063322734G → V in OI2. 1 Publication1
Natural variantiVAR_001682737G → D in OI2. 1
Natural variantiVAR_063323740G → R in OI2. 1 Publication1
Natural variantiVAR_001683743G → S in OI2. 1
Natural variantiVAR_001684743G → V in OI2. 1 Publication1
Natural variantiVAR_001685764G → V in OI2. 1 Publication1
Natural variantiVAR_001686767G → S in OI3; severe. 2 Publications