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Protein

Collagen alpha-2(I) chain

Gene

COL1A2

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 bindingi1181CalciumBy similarity1
Metal bindingi1183CalciumBy similarity1
Metal bindingi1184Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1186Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1189CalciumBy similarity1

GO - Molecular functioni

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

GO - Biological processi

  • blood coagulation Source: Reactome
  • blood vessel development Source: UniProtKB
  • cellular response to amino acid stimulus Source: Ensembl
  • collagen catabolic process Source: Reactome
  • collagen fibril organization Source: UniProtKB
  • extracellular matrix organization Source: Reactome
  • 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
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164692-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.
SIGNORiP08123.

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-2(I) chain
Alternative name(s):
Alpha-2 type I collagen
Gene namesi
Name:COL1A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:2198. COL1A2.

Subcellular locationi

GO - Cellular componenti

  • collagen type I trimer Source: UniProtKB
  • endoplasmic reticulum lumen Source: Reactome
  • extracellular exosome Source: UniProtKB
  • extracellular matrix Source: UniProtKB
  • extracellular region Source: Reactome
  • extracellular space Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Ehlers-Danlos syndrome 7B (EDS7B)3 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. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations.
See also OMIM:130060
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00185176 – 93Missing in EDS7B. 3 PublicationsAdd BLAST18
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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001852211G → D in OI1. 1 PublicationCorresponds to variant rs72656378dbSNPEnsembl.1
Natural variantiVAR_063346247G → R in OI1. 1 Publication1
Natural variantiVAR_063350319G → R in OI1. 1 PublicationCorresponds to variant rs72656393dbSNPEnsembl.1
Natural variantiVAR_001855328G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant rs66612022dbSNPEnsembl.1
Natural variantiVAR_063363733G → C in OI1. 1 PublicationCorresponds to variant rs72658172dbSNPEnsembl.1
Natural variantiVAR_001879736G → C in OI1; mild. 2 PublicationsCorresponds to variant rs72658173dbSNPEnsembl.1
Natural variantiVAR_001890835G → S in OI1. 1 PublicationCorresponds to variant rs72658193dbSNPEnsembl.1
Natural variantiVAR_0633831195C → Y in OI1. 1 PublicationCorresponds to variant rs72659342dbSNPEnsembl.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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063345234R → C in OI2. 1 Publication1
Natural variantiVAR_063347253G → D in OI2. 1 PublicationCorresponds to variant rs72656385dbSNPEnsembl.1
Natural variantiVAR_063349283G → R in OI2. 1 Publication1
Natural variantiVAR_001856334G → C in OI2. 1
Natural variantiVAR_063353397G → E in OI2. 1 Publication1
Natural variantiVAR_001861409G → V in OI2. 1 PublicationCorresponds to variant rs72658109dbSNPEnsembl.1
Natural variantiVAR_001862433G → E in OI2. 1 PublicationCorresponds to variant rs72658114dbSNPEnsembl.1
Natural variantiVAR_063354454G → C in OI2. 1 PublicationCorresponds to variant rs72658117dbSNPEnsembl.1
Natural variantiVAR_063355457G → L in OI2; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_063356461 – 466Missing in OI2. 1 Publication6
Natural variantiVAR_001864511G → D in OI2. Corresponds to variant rs66999265dbSNPEnsembl.1
Natural variantiVAR_063357526G → E in OI2. 1 PublicationCorresponds to variant rs72658130dbSNPEnsembl.1
Natural variantiVAR_001866547G → R in OI2. 1 PublicationCorresponds to variant rs72658136dbSNPEnsembl.1
Natural variantiVAR_001868562G → C in OI2. Corresponds to variant rs72658138dbSNPEnsembl.1
Natural variantiVAR_063358562G → V in OI2. 1 Publication1
Natural variantiVAR_001869586G → R in OI2. Corresponds to variant rs72658139dbSNPEnsembl.1
Natural variantiVAR_001870592G → S in OI2. 1 PublicationCorresponds to variant rs72658141dbSNPEnsembl.1
Natural variantiVAR_063360625G → D in OI2. 1 PublicationCorresponds to variant rs72658145dbSNPEnsembl.1
Natural variantiVAR_001872637G → D in OI2. Corresponds to variant rs72658148dbSNPEnsembl.1
Natural variantiVAR_001873640G → S in OI2. 1
Natural variantiVAR_001874670G → D in OI2. 1 PublicationCorresponds to variant rs72658155dbSNPEnsembl.1
Natural variantiVAR_030120676 – 855Missing in OI2. 1 PublicationAdd BLAST180
Natural variantiVAR_063362705 – 707Missing in OI2. 1 Publication3
Natural variantiVAR_001877715G → D in OI2. Corresponds to variant rs72658167dbSNPEnsembl.1
Natural variantiVAR_001878730G → C in OI2. 1 PublicationCorresponds to variant rs72658171dbSNPEnsembl.1
Natural variantiVAR_063364739G → R in OI2. 1 PublicationCorresponds to variant rs72658174dbSNPEnsembl.1
Natural variantiVAR_063365748G → V in OI2. 1 Publication1
Natural variantiVAR_001882754G → R in OI2. 1
Natural variantiVAR_001885784G → R in OI2. 1 PublicationCorresponds to variant rs66592844dbSNPEnsembl.1
Natural variantiVAR_001886787G → C in OI2. 1 PublicationCorresponds to variant rs72658187dbSNPEnsembl.1
Natural variantiVAR_001887790G → D in OI2. 2 PublicationsCorresponds to variant rs72658188dbSNPEnsembl.1
Natural variantiVAR_001888796G → S in OI2. 1 PublicationCorresponds to variant rs66716547dbSNPEnsembl.1
Natural variantiVAR_063367798P → PP in OI2. 1 Publication1
Natural variantiVAR_063368806 – 811Missing in OI2. 1 Publication6
Natural variantiVAR_063373856G → V in OI2. 1 Publication1
Natural variantiVAR_001891877G → C in OI2. 1 PublicationCorresponds to variant rs72658201dbSNPEnsembl.1
Natural variantiVAR_001893895G → D in OI2. Corresponds to variant rs72659305dbSNPEnsembl.1
Natural variantiVAR_063374955G → D in OI2. 1 Publication1
Natural variantiVAR_001895955G → S in OI2. 1 PublicationCorresponds to variant rs66507857dbSNPEnsembl.1
Natural variantiVAR_063375982G → D in OI2. 1 PublicationCorresponds to variant rs67422093dbSNPEnsembl.1
Natural variantiVAR_001896997G → D in OI2. 1 PublicationCorresponds to variant rs72659317dbSNPEnsembl.1
Natural variantiVAR_0633781003G → D in OI2. 1 Publication1
Natural variantiVAR_0633791027G → E in OI2. 1 PublicationCorresponds to variant rs72659323dbSNPEnsembl.1
Natural variantiVAR_0633801058 – 1062Missing in OI2. 1 Publication5
Natural variantiVAR_0018991066G → D in OI2. Corresponds to variant rs72659331dbSNPEnsembl.1
Natural variantiVAR_0019001078G → C in OI2. 1
Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV)1 Publication
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. In addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation, patients have mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency.
See also OMIM:225320
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_001855328G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant rs66612022dbSNPEnsembl.1
Natural variantiVAR_008119331G → D in OI3. 1 PublicationCorresponds to variant rs67729041dbSNPEnsembl.1
Natural variantiVAR_001857337G → C in OI3. 1 PublicationCorresponds to variant rs67865220dbSNPEnsembl.1
Natural variantiVAR_001858337G → S in OI3. 1 PublicationCorresponds to variant rs67865220dbSNPEnsembl.1
Natural variantiVAR_001859345Missing in OI3. 1 Publication1
Natural variantiVAR_001860349G → C in OI3. 2 PublicationsCorresponds to variant rs66773001dbSNPEnsembl.1
Natural variantiVAR_063352358G → S in OI3. 1 PublicationCorresponds to variant rs66619856dbSNPEnsembl.1
Natural variantiVAR_001863460G → S in OI3. 1 PublicationCorresponds to variant rs72658118dbSNPEnsembl.1
Natural variantiVAR_001865517G → R in OI3. 1 PublicationCorresponds to variant rs72658126dbSNPEnsembl.1
Natural variantiVAR_063361676G → D in OI3. 1 PublicationCorresponds to variant rs66883877dbSNPEnsembl.1
Natural variantiVAR_001875676G → V in OI3 and OI4. 2 PublicationsCorresponds to variant rs66883877dbSNPEnsembl.1
Natural variantiVAR_001884778G → S in OI3. 1 PublicationCorresponds to variant rs72658186dbSNPEnsembl.1
Natural variantiVAR_063370820G → S in OI3. 1 PublicationCorresponds to variant rs72658191dbSNPEnsembl.1
Natural variantiVAR_063371835G → C in OI3. 1 Publication1
Natural variantiVAR_063372856G → R in OI3. 1 Publication1
Natural variantiVAR_001892892G → D in OI3 and OI4. 1 PublicationCorresponds to variant rs72659304dbSNPEnsembl.1
Natural variantiVAR_001894949G → S in OI3; moderate. 2 PublicationsCorresponds to variant rs72659312dbSNPEnsembl.1
Natural variantiVAR_008120973G → V in OI3. 1 PublicationCorresponds to variant rs67609234dbSNPEnsembl.1
Natural variantiVAR_063377991G → V in OI3. 1 PublicationCorresponds to variant rs72659316dbSNPEnsembl.1
Natural variantiVAR_0018971012G → S in OI3 and OI4; moderate. 2 PublicationsCorresponds to variant rs72659319dbSNPEnsembl.1
Natural variantiVAR_0633811087G → D in OI3. 1 PublicationCorresponds to variant rs72659335dbSNPEnsembl.1
Natural variantiVAR_0019011096G → A in OI3. 1 PublicationCorresponds to variant rs72659337dbSNPEnsembl.1
Natural variantiVAR_0019041148T → P in OI3. 1 PublicationCorresponds to variant rs1800250dbSNPEnsembl.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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030117181 – 198Missing in OI4. 1 PublicationAdd BLAST18
Natural variantiVAR_063343193G → S in OI4. 1 PublicationCorresponds to variant rs72656370dbSNPEnsembl.1
Natural variantiVAR_063344202G → R in OI4. 1 PublicationCorresponds to variant rs72656376dbSNPEnsembl.1
Natural variantiVAR_063348256G → V in OI4. 1 PublicationCorresponds to variant rs67525025dbSNPEnsembl.1
Natural variantiVAR_063351325G → E in OI4. 1 PublicationCorresponds to variant rs72656395dbSNPEnsembl.1
Natural variantiVAR_001855328G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant rs66612022dbSNPEnsembl.1
Natural variantiVAR_001871634G → V in OI4. 1 PublicationCorresponds to variant rs72658147dbSNPEnsembl.1
Natural variantiVAR_001875676G → V in OI3 and OI4. 2 PublicationsCorresponds to variant rs66883877dbSNPEnsembl.1
Natural variantiVAR_001881751G → S in OI4. 1 PublicationCorresponds to variant rs72658176dbSNPEnsembl.1
Natural variantiVAR_063366754G → C in OI4. 1 PublicationCorresponds to variant rs72658177dbSNPEnsembl.1
Natural variantiVAR_001883766G → V in OI4. 1 PublicationCorresponds to variant rs72658183dbSNPEnsembl.1
Natural variantiVAR_063369811G → GPPG in OI4. 1
Natural variantiVAR_001892892G → D in OI3 and OI4. 1 PublicationCorresponds to variant rs72659304dbSNPEnsembl.1
Natural variantiVAR_063376989P → PVGP in OI4. 1
Natural variantiVAR_0018971012G → S in OI3 and OI4; moderate. 2 PublicationsCorresponds to variant rs72659319dbSNPEnsembl.1
Natural variantiVAR_0633821094 – 1096Missing in OI4. 1 Publication3
Natural variantiVAR_0019021102G → R in OI4. 1 PublicationCorresponds to variant rs67768540dbSNPEnsembl.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 imperfecta

Organism-specific databases

DisGeNETi1278.
MalaCardsiCOL1A2.
MIMi130060. phenotype.
166200. phenotype.
166210. phenotype.
166220. phenotype.
225320. phenotype.
259420. phenotype.
OpenTargetsiENSG00000164692.
Orphaneti99876. 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.
PharmGKBiPA35042.

Chemistry databases

ChEMBLiCHEMBL2685.
DrugBankiDB00048. Collagenase clostridium histolyticum.

Polymorphism and mutation databases

BioMutaiCOL1A2.
DMDMi296439507.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 22By similarityAdd BLAST22
PropeptideiPRO_000000580423 – 79N-terminal propeptide1 PublicationAdd BLAST57
ChainiPRO_000000580580 – 1102Collagen alpha-2(I) chainAdd BLAST1023
PropeptideiPRO_00000058061103 – 1366C-terminal propeptideAdd BLAST264

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei80Pyrrolidone carboxylic acidBy similarity1
Modified residuei84Allysine1
Modified residuei420Hydroxyproline1 Publication1
Modified residuei441Hydroxyproline1 Publication1
Modified residuei444Hydroxyproline1 Publication1
Disulfide bondi1163 ↔ 1195PROSITE-ProRule annotation
Disulfide bondi1203 ↔ 1364PROSITE-ProRule annotation
Glycosylationi1267N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi1272 ↔ 1317PROSITE-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 acid

Proteomic databases

EPDiP08123.
MaxQBiP08123.
PaxDbiP08123.
PeptideAtlasiP08123.
PRIDEiP08123.

PTM databases

iPTMnetiP08123.
PhosphoSitePlusiP08123.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000164692.
ExpressionAtlasiP08123. baseline and differential.
GenevisibleiP08123. HS.

Organism-specific databases

HPAiCAB032650.

Interactioni

Subunit structurei

Trimers of one alpha 2(I) and two alpha 1(I) chains.

Binary interactionsi

WithEntry#Exp.IntActNotes
SGTAO437655EBI-983038,EBI-347996
UBQLN1Q9UMX05EBI-983038,EBI-741480
UBQLN1Q9UMX0-23EBI-983038,EBI-10173939

GO - Molecular functioni

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

Protein-protein interaction databases

BioGridi107675. 18 interactors.
DIPiDIP-36079N.
IntActiP08123. 16 interactors.
MINTiMINT-4791958.
STRINGi9606.ENSP00000297268.

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CTDX-ray1.60B484-495[»]
5CTIX-ray1.90B484-495[»]
5CVAX-ray2.10A/D484-495[»]
ProteinModelPortaliP08123.
SMRiP08123.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1133 – 1366Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST234

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

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129673.
HOVERGENiHBG004933.
InParanoidiP08123.
KOiK06236.
OMAiTGKHGHR.
OrthoDBiEOG091G03LV.
PhylomeDBiP08123.
TreeFamiTF344135.

Family and domain databases

InterProiIPR008160. Collagen.
IPR000885. Fib_collagen_C.
[Graphical view]
PfamiPF01410. COLFI. 1 hit.
PF01391. Collagen. 6 hits.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
[Graphical view]
PROSITEiPS51461. NC1_FIB. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

P08123-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:1,366
Mass (Da):129,314
Last modified:May 18, 2010 - v7
Checksum:i1E68A5970FB4210A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti55E → G in CAA26320 (PubMed:4011429).Curated1
Sequence conflicti333V → P in AAB59374 (PubMed:2824475).Curated1
Sequence conflicti338A → T in AAB59374 (PubMed:2824475).Curated1
Sequence conflicti549P → D in CAA68709 (PubMed:3421913).Curated1
Sequence conflicti828V → A in CAA23761 (PubMed:6687691).Curated1
Sequence conflicti831T → P in CAA23761 (PubMed:6687691).Curated1
Sequence conflicti837V → P in CAA23761 (PubMed:6687691).Curated1
Sequence conflicti980E → V in AAA51996 (PubMed:6267597).Curated1
Sequence conflicti1098P → L in CAA23761 (PubMed:6687691).Curated1
Sequence conflicti1122 – 1125Missing in CAA23761 (PubMed:6687691).Curated4
Sequence conflicti1338R → A in AAA51887 (PubMed:6309769).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03011659T → P.1 PublicationCorresponds to variant rs1800221dbSNPEnsembl.1
Natural variantiVAR_00185176 – 93Missing in EDS7B. 3 PublicationsAdd BLAST18
Natural variantiVAR_030117181 – 198Missing in OI4. 1 PublicationAdd BLAST18
Natural variantiVAR_063343193G → S in OI4. 1 PublicationCorresponds to variant rs72656370dbSNPEnsembl.1
Natural variantiVAR_063344202G → R in OI4. 1 PublicationCorresponds to variant rs72656376dbSNPEnsembl.1
Natural variantiVAR_001852211G → D in OI1. 1 PublicationCorresponds to variant rs72656378dbSNPEnsembl.1
Natural variantiVAR_063345234R → C in OI2. 1 Publication1
Natural variantiVAR_063346247G → R in OI1. 1 Publication1
Natural variantiVAR_001853249I → N.1 PublicationCorresponds to variant rs1800228dbSNPEnsembl.1
Natural variantiVAR_063347253G → D in OI2. 1 PublicationCorresponds to variant rs72656385dbSNPEnsembl.1
Natural variantiVAR_063348256G → V in OI4. 1 PublicationCorresponds to variant rs67525025dbSNPEnsembl.1
Natural variantiVAR_030118270V → I.1 PublicationCorresponds to variant rs368468dbSNPEnsembl.1
Natural variantiVAR_001854276A → T.1 PublicationCorresponds to variant rs1800231dbSNPEnsembl.1
Natural variantiVAR_063349283G → R in OI2. 1 Publication1
Natural variantiVAR_063350319G → R in OI1. 1 PublicationCorresponds to variant rs72656393dbSNPEnsembl.1
Natural variantiVAR_063351325G → E in OI4. 1 PublicationCorresponds to variant rs72656395dbSNPEnsembl.1
Natural variantiVAR_001855328G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant rs66612022dbSNPEnsembl.1
Natural variantiVAR_008119331G → D in OI3. 1 PublicationCorresponds to variant rs67729041dbSNPEnsembl.1
Natural variantiVAR_001856334G → C in OI2. 1
Natural variantiVAR_001857337G → C in OI3. 1 PublicationCorresponds to variant rs67865220dbSNPEnsembl.1
Natural variantiVAR_001858337G → S in OI3. 1 PublicationCorresponds to variant rs67865220dbSNPEnsembl.1
Natural variantiVAR_055677344L → V.Corresponds to variant rs16868573dbSNPEnsembl.1
Natural variantiVAR_001859345Missing in OI3. 1 Publication1
Natural variantiVAR_001860349G → C in OI3. 2 PublicationsCorresponds to variant rs66773001dbSNPEnsembl.1
Natural variantiVAR_063352358G → S in OI3. 1 PublicationCorresponds to variant rs66619856dbSNPEnsembl.1
Natural variantiVAR_063353397G → E in OI2. 1 Publication1
Natural variantiVAR_001861409G → V in OI2. 1 PublicationCorresponds to variant rs72658109dbSNPEnsembl.1
Natural variantiVAR_001862433G → E in OI2. 1 PublicationCorresponds to variant rs72658114dbSNPEnsembl.1
Natural variantiVAR_063354454G → C in OI2. 1 PublicationCorresponds to variant rs72658117dbSNPEnsembl.1
Natural variantiVAR_063355457G → L in OI2; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_001863460G → S in OI3. 1 PublicationCorresponds to variant rs72658118dbSNPEnsembl.1
Natural variantiVAR_063356461 – 466Missing in OI2. 1 Publication6
Natural variantiVAR_030119483A → V.2 PublicationsCorresponds to variant rs414408dbSNPEnsembl.1
Natural variantiVAR_001864511G → D in OI2. Corresponds to variant rs66999265dbSNPEnsembl.1
Natural variantiVAR_001865517G → R in OI3. 1 PublicationCorresponds to variant rs72658126dbSNPEnsembl.1
Natural variantiVAR_063357526G → E in OI2. 1 PublicationCorresponds to variant rs72658130dbSNPEnsembl.1
Natural variantiVAR_033040528N → S.1 PublicationCorresponds to variant rs41317144dbSNPEnsembl.1
Natural variantiVAR_001866547G → R in OI2. 1 PublicationCorresponds to variant rs72658136dbSNPEnsembl.1
Natural variantiVAR_001867549P → A.7 PublicationsCorresponds to variant rs42524dbSNPEnsembl.1
Natural variantiVAR_001868562G → C in OI2. Corresponds to variant rs72658138dbSNPEnsembl.1
Natural variantiVAR_063358562G → V in OI2. 1 Publication1
Natural variantiVAR_033041564A → T.1 PublicationCorresponds to variant rs41317153dbSNPEnsembl.1
Natural variantiVAR_001869586G → R in OI2. Corresponds to variant rs72658139dbSNPEnsembl.1
Natural variantiVAR_001870592G → S in OI2. 1 PublicationCorresponds to variant rs72658141dbSNPEnsembl.1
Natural variantiVAR_063359601G → S in OI. 1 PublicationCorresponds to variant rs72658143dbSNPEnsembl.1
Natural variantiVAR_063360625G → D in OI2. 1 PublicationCorresponds to variant rs72658145dbSNPEnsembl.1
Natural variantiVAR_001871634G → V in OI4. 1 PublicationCorresponds to variant rs72658147dbSNPEnsembl.1
Natural variantiVAR_001872637G → D in OI2. Corresponds to variant rs72658148dbSNPEnsembl.1
Natural variantiVAR_001873640G → S in OI2. 1
Natural variantiVAR_001874670G → D in OI2. 1 PublicationCorresponds to variant rs72658155dbSNPEnsembl.1
Natural variantiVAR_030120676 – 855Missing in OI2. 1 PublicationAdd BLAST180
Natural variantiVAR_063361676G → D in OI3. 1 PublicationCorresponds to variant rs66883877dbSNPEnsembl.1
Natural variantiVAR_001875676G → V in OI3 and OI4. 2 PublicationsCorresponds to variant rs66883877dbSNPEnsembl.1
Natural variantiVAR_030121678P → H.5 PublicationsCorresponds to variant rs409108dbSNPEnsembl.1
Natural variantiVAR_063362705 – 707Missing in OI2. 1 Publication3
Natural variantiVAR_001876708R → Q in Marfan syndrome. Corresponds to variant rs72658163dbSNPEnsembl.1
Natural variantiVAR_001877715G → D in OI2. Corresponds to variant rs72658167dbSNPEnsembl.1
Natural variantiVAR_001878730G → C in OI2. 1 PublicationCorresponds to variant rs72658171dbSNPEnsembl.1
Natural variantiVAR_063363733G → C in OI1. 1 PublicationCorresponds to variant rs72658172dbSNPEnsembl.1
Natural variantiVAR_001879736G → C in OI1; mild. 2 PublicationsCorresponds to variant rs72658173dbSNPEnsembl.1
Natural variantiVAR_063364739G → R in OI2. 1 PublicationCorresponds to variant rs72658174dbSNPEnsembl.1
Natural variantiVAR_001880743A → G.3 PublicationsCorresponds to variant rs408535dbSNPEnsembl.1
Natural variantiVAR_063365748G → V in OI2. 1 Publication1
Natural variantiVAR_001881751G → S in OI4. 1 PublicationCorresponds to variant rs72658176dbSNPEnsembl.1
Natural variantiVAR_063366754G → C in OI4. 1 PublicationCorresponds to variant rs72658177dbSNPEnsembl.1
Natural variantiVAR_001882754G → R in OI2. 1
Natural variantiVAR_001883766G → V in OI4. 1 PublicationCorresponds to variant rs72658183dbSNPEnsembl.1
Natural variantiVAR_001884778G → S in OI3. 1 PublicationCorresponds to variant rs72658186dbSNPEnsembl.1
Natural variantiVAR_001885784G → R in OI2. 1 PublicationCorresponds to variant rs66592844dbSNPEnsembl.1
Natural variantiVAR_001886787G → C in OI2. 1 PublicationCorresponds to variant rs72658187dbSNPEnsembl.1
Natural variantiVAR_001887790G → D in OI2. 2 PublicationsCorresponds to variant rs72658188dbSNPEnsembl.1
Natural variantiVAR_001888796G → S in OI2. 1 PublicationCorresponds to variant rs66716547dbSNPEnsembl.1
Natural variantiVAR_063367798P → PP in OI2. 1 Publication1
Natural variantiVAR_063368806 – 811Missing in OI2. 1 Publication6
Natural variantiVAR_063369811G → GPPG in OI4. 1
Natural variantiVAR_063370820G → S in OI3. 1 PublicationCorresponds to variant rs72658191dbSNPEnsembl.1
Natural variantiVAR_001889822R → H.1 PublicationCorresponds to variant rs1800240dbSNPEnsembl.1
Natural variantiVAR_063371835G → C in OI3. 1 Publication1
Natural variantiVAR_001890835G → S in OI1. 1 PublicationCorresponds to variant rs72658193dbSNPEnsembl.1
Natural variantiVAR_063372856G → R in OI3. 1 Publication1
Natural variantiVAR_063373856G → V in OI2. 1 Publication1
Natural variantiVAR_001891877G → C in OI2. 1 PublicationCorresponds to variant rs72658201dbSNPEnsembl.1
Natural variantiVAR_001892892G → D in OI3 and OI4. 1 PublicationCorresponds to variant rs72659304dbSNPEnsembl.1
Natural variantiVAR_001893895G → D in OI2. Corresponds to variant rs72659305dbSNPEnsembl.1
Natural variantiVAR_001894949G → S in OI3; moderate. 2 PublicationsCorresponds to variant rs72659312dbSNPEnsembl.1
Natural variantiVAR_063374955G → D in OI2. 1 Publication1
Natural variantiVAR_001895955G → S in OI2. 1 PublicationCorresponds to variant rs66507857dbSNPEnsembl.1
Natural variantiVAR_008120973G → V in OI3. 1 PublicationCorresponds to variant rs67609234dbSNPEnsembl.1
Natural variantiVAR_063375982G → D in OI2. 1 PublicationCorresponds to variant rs67422093dbSNPEnsembl.1
Natural variantiVAR_063376989P → PVGP in OI4. 1
Natural variantiVAR_063377991G → V in OI3. 1 PublicationCorresponds to variant rs72659316dbSNPEnsembl.1
Natural variantiVAR_001896997G → D in OI2. 1 PublicationCorresponds to variant rs72659317dbSNPEnsembl.1
Natural variantiVAR_0633781003G → D in OI2. 1 Publication1
Natural variantiVAR_0018971012G → S in OI3 and OI4; moderate. 2 PublicationsCorresponds to variant rs72659319dbSNPEnsembl.1
Natural variantiVAR_0018981022L → F.3 PublicationsCorresponds to variant rs392609dbSNPEnsembl.1
Natural variantiVAR_0633791027G → E in OI2. 1 PublicationCorresponds to variant rs72659323dbSNPEnsembl.1
Natural variantiVAR_0633801058 – 1062Missing in OI2. 1 Publication5
Natural variantiVAR_0018991066G → D in OI2. Corresponds to variant rs72659331dbSNPEnsembl.1
Natural variantiVAR_0696331067R → H.1 PublicationCorresponds to variant rs530026906dbSNPEnsembl.1
Natural variantiVAR_0019001078G → C in OI2. 1
Natural variantiVAR_0633811087G → D in OI3. 1 PublicationCorresponds to variant rs72659335dbSNPEnsembl.1
Natural variantiVAR_0633821094 – 1096Missing in OI4. 1 Publication3
Natural variantiVAR_0019011096G → A in OI3. 1 PublicationCorresponds to variant rs72659337dbSNPEnsembl.1
Natural variantiVAR_0019031101P → L.1
Natural variantiVAR_0019021102G → R in OI4. 1 PublicationCorresponds to variant rs67768540dbSNPEnsembl.1
Natural variantiVAR_0663861119A → 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 Publication1
Natural variantiVAR_0019041148T → P in OI3. 1 PublicationCorresponds to variant rs1800250dbSNPEnsembl.1
Natural variantiVAR_0019051189D → E.3 PublicationsCorresponds to variant rs422361dbSNPEnsembl.1
Natural variantiVAR_0633831195C → Y in OI1. 1 PublicationCorresponds to variant rs72659342dbSNPEnsembl.1
Natural variantiVAR_0019061198S → P.3 PublicationsCorresponds to variant rs384487dbSNPEnsembl.1
Natural variantiVAR_0301221354Q → H.7 PublicationsCorresponds to variant rs418570dbSNPEnsembl.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.
CCDSiCCDS34682.1.
PIRiA28500. CGHU2S.
RefSeqiNP_000080.2. NM_000089.3.
UniGeneiHs.489142.

Genome annotation databases

EnsembliENST00000297268; ENSP00000297268; ENSG00000164692.
GeneIDi1278.
KEGGihsa:1278.
UCSCiuc003ung.1. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

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.
CCDSiCCDS34682.1.
PIRiA28500. CGHU2S.
RefSeqiNP_000080.2. NM_000089.3.
UniGeneiHs.489142.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CTDX-ray1.60B484-495[»]
5CTIX-ray1.90B484-495[»]
5CVAX-ray2.10A/D484-495[»]
ProteinModelPortaliP08123.
SMRiP08123.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107675. 18 interactors.
DIPiDIP-36079N.
IntActiP08123. 16 interactors.
MINTiMINT-4791958.
STRINGi9606.ENSP00000297268.

Chemistry databases

ChEMBLiCHEMBL2685.
DrugBankiDB00048. Collagenase clostridium histolyticum.

PTM databases

iPTMnetiP08123.
PhosphoSitePlusiP08123.

Polymorphism and mutation databases

BioMutaiCOL1A2.
DMDMi296439507.

Proteomic databases

EPDiP08123.
MaxQBiP08123.
PaxDbiP08123.
PeptideAtlasiP08123.
PRIDEiP08123.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297268; ENSP00000297268; ENSG00000164692.
GeneIDi1278.
KEGGihsa:1278.
UCSCiuc003ung.1. human.

Organism-specific databases

CTDi1278.
DisGeNETi1278.
GeneCardsiCOL1A2.
GeneReviewsiCOL1A2.
H-InvDBHIX0006854.
HGNCiHGNC:2198. COL1A2.
HPAiCAB032650.
MalaCardsiCOL1A2.
MIMi120160. gene.
130060. phenotype.
166200. phenotype.
166210. phenotype.
166220. phenotype.
225320. phenotype.
259420. phenotype.
neXtProtiNX_P08123.
OpenTargetsiENSG00000164692.
Orphaneti99876. 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.
PharmGKBiPA35042.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129673.
HOVERGENiHBG004933.
InParanoidiP08123.
KOiK06236.
OMAiTGKHGHR.
OrthoDBiEOG091G03LV.
PhylomeDBiP08123.
TreeFamiTF344135.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164692-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.
SIGNORiP08123.

Miscellaneous databases

ChiTaRSiCOL1A2. human.
GeneWikiiCOL1A2.
GenomeRNAii1278.
PROiP08123.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164692.
ExpressionAtlasiP08123. baseline and differential.
GenevisibleiP08123. HS.

Family and domain databases

InterProiIPR008160. Collagen.
IPR000885. Fib_collagen_C.
[Graphical view]
PfamiPF01410. COLFI. 1 hit.
PF01391. Collagen. 6 hits.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
[Graphical view]
PROSITEiPS51461. NC1_FIB. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCO1A2_HUMAN
AccessioniPrimary (citable) accession number: P08123
Secondary accession number(s): P02464
, Q13897, Q13997, Q13998, Q14038, Q14057, Q15177, Q15947, Q16480, Q16511, Q7Z5S6, Q9UEB6, Q9UEF9, Q9UM83, Q9UMI1, Q9UML5, Q9UMM6, Q9UPH0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 197 of the entry and version 7 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.