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Protein

Collagen alpha-1(III) chain

Gene

COL3A1

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

Functioni

Collagen type III occurs in most soft connective tissues along with type I collagen. Involved in regulation of cortical development. Is the major ligand of ADGRG1 in the developing brain and binding to ADGRG1 inhibits neuronal migration and activates the RhoA pathway by coupling ADGRG1 to GNA13 and possibly GNA12.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi1280Calcium1
Metal bindingi1282Calcium1
Metal bindingi1283Calcium; via carbonyl oxygen1
Metal bindingi1285Calcium; via carbonyl oxygen1
Metal bindingi1288Calcium1

GO - Molecular functioni

  • extracellular matrix structural constituent Source: UniProtKB
  • extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
  • integrin binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • platelet-derived growth factor binding Source: MGI
  • protease binding Source: CAFA
  • SMAD binding Source: Ensembl

GO - Biological processi

Keywordsi

LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-1442490 Collagen degradation
R-HSA-1474244 Extracellular matrix organization
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-186797 Signaling by PDGF
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-216083 Integrin cell surface interactions
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-419037 NCAM1 interactions
R-HSA-8874081 MET activates PTK2 signaling
R-HSA-8948216 Collagen chain trimerization
SIGNORiP02461

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen alpha-1(III) chain
Gene namesi
Name:COL3A1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000168542.12
HGNCiHGNC:2201 COL3A1
MIMi120180 gene
neXtProtiNX_P02461

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Ehlers-Danlos syndrome, vascular type (EDSVASC)30 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSVASC is an autosomal dominant disease characterized by joint and dermal manifestations as in other forms of the syndrome, and by proneness to spontaneous rupture of bowel and large arteries. The vascular complications may affect all anatomical areas.
See also OMIM:130050
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001768183G → C in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs121912926EnsemblClinVar.1
Natural variantiVAR_011095183G → D in EDSVASC. Corresponds to variant dbSNP:rs587779420EnsemblClinVar.1
Natural variantiVAR_011096183G → S in EDSVASC. Corresponds to variant dbSNP:rs121912926EnsemblClinVar.1
Natural variantiVAR_011097192G → V in EDSVASC. Corresponds to variant dbSNP:rs587779710EnsemblClinVar.1
Natural variantiVAR_001769201G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779436EnsemblClinVar.1
Natural variantiVAR_011098204G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779626EnsemblClinVar.1
Natural variantiVAR_011099204G → S in EDSVASC. Corresponds to variant dbSNP:rs587779711EnsemblClinVar.1
Natural variantiVAR_011100210G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011101219G → C in EDSVASC. Corresponds to variant dbSNP:rs587779624EnsemblClinVar.1
Natural variantiVAR_011102225G → V in EDSVASC. Corresponds to variant dbSNP:rs587779533EnsemblClinVar.1
Natural variantiVAR_001770228G → E in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779555EnsemblClinVar.1
Natural variantiVAR_011103240G → R in EDSVASC. Corresponds to variant dbSNP:rs587779468EnsemblClinVar.1
Natural variantiVAR_011104243G → V in EDSVASC. Corresponds to variant dbSNP:rs587779629EnsemblClinVar.1
Natural variantiVAR_011105249G → D in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar.1
Natural variantiVAR_011106249G → V in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar.1
Natural variantiVAR_011107252G → D in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar.1
Natural variantiVAR_011108252G → R in EDSVASC. Corresponds to variant dbSNP:rs587779705EnsemblClinVar.1
Natural variantiVAR_011109252G → V in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar.1
Natural variantiVAR_011110255G → V in EDSVASC. Corresponds to variant dbSNP:rs587779605EnsemblClinVar.1
Natural variantiVAR_011111264G → R in EDSVASC. 1 Publication1
Natural variantiVAR_011112267G → V in EDSVASC. Corresponds to variant dbSNP:rs587779427EnsemblClinVar.1
Natural variantiVAR_037007297G → R in EDSVASC. 1 Publication1
Natural variantiVAR_001771303G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912919EnsemblClinVar.1
Natural variantiVAR_011113321G → V in EDSVASC. Corresponds to variant dbSNP:rs587779588EnsemblClinVar.1
Natural variantiVAR_011114327G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011115345G → R in EDSVASC. Corresponds to variant dbSNP:rs587779419EnsemblClinVar.1
Natural variantiVAR_011116417G → R in EDSVASC. Corresponds to variant dbSNP:rs587779637EnsemblClinVar.1
Natural variantiVAR_011117444G → R in EDSVASC. Corresponds to variant dbSNP:rs587779489EnsemblClinVar.1
Natural variantiVAR_011118489G → E in EDSVASC. Corresponds to variant dbSNP:rs587779476EnsemblClinVar.1
Natural variantiVAR_011119501G → R in EDSVASC. Corresponds to variant dbSNP:rs587779523EnsemblClinVar.1
Natural variantiVAR_011120519G → V in EDSVASC. 1
Natural variantiVAR_001772540G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779584EnsemblClinVar.1
Natural variantiVAR_011121549G → E in EDSVASC. Corresponds to variant dbSNP:rs587779679EnsemblClinVar.1
Natural variantiVAR_011122552G → E in EDSVASC. Corresponds to variant dbSNP:rs121912928EnsemblClinVar.1
Natural variantiVAR_001773567G → E in EDSVASC. 1 Publication1
Natural variantiVAR_001774582G → S in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912923EnsemblClinVar.1
Natural variantiVAR_011123588G → D in EDSVASC. Corresponds to variant dbSNP:rs587779691EnsemblClinVar.1
Natural variantiVAR_011124636G → R in EDSVASC. Corresponds to variant dbSNP:rs587779522EnsemblClinVar.1
Natural variantiVAR_011125657G → E in EDSVASC. Corresponds to variant dbSNP:rs587779699EnsemblClinVar.1
Natural variantiVAR_011126660G → D in EDSVASC. Corresponds to variant dbSNP:rs587779493EnsemblClinVar.1
Natural variantiVAR_001777666G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912921EnsemblClinVar.1
Natural variantiVAR_011128699G → R in EDSVASC. Corresponds to variant dbSNP:rs587779668EnsemblClinVar.1
Natural variantiVAR_001779726G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779638EnsemblClinVar.1
Natural variantiVAR_011129738G → S in EDSVASC. Corresponds to variant dbSNP:rs121912925EnsemblClinVar.1
Natural variantiVAR_011130738G → V in EDSVASC. Corresponds to variant dbSNP:rs587779615EnsemblClinVar.1
Natural variantiVAR_011131744G → V in EDSVASC. Corresponds to variant dbSNP:rs587779697EnsemblClinVar.1
Natural variantiVAR_001780756G → E in EDSVASC. 1 Publication1
Natural variantiVAR_001781762G → C in EDSVASC. 1 Publication1
Natural variantiVAR_001782786G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs113485686EnsemblClinVar.1
Natural variantiVAR_001783804G → S in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912920EnsemblClinVar.1
Natural variantiVAR_001784828G → R in EDSVASC. 1 Publication1
Natural variantiVAR_011132828G → W in EDSVASC. Corresponds to variant dbSNP:rs587779486EnsemblClinVar.1
Natural variantiVAR_037008830 – 838Missing in EDSVASC. 1 Publication9
Natural variantiVAR_011133852G → C in EDSVASC. Corresponds to variant dbSNP:rs587779690EnsemblClinVar.1
Natural variantiVAR_011134879G → V in EDSVASC. Corresponds to variant dbSNP:rs587779645EnsemblClinVar.1
Natural variantiVAR_011135882G → D in EDSVASC. Corresponds to variant dbSNP:rs587779622EnsemblClinVar.1
Natural variantiVAR_011136900G → D in EDSVASC. Corresponds to variant dbSNP:rs587779599EnsemblClinVar.1
Natural variantiVAR_011137903G → E in EDSVASC. Corresponds to variant dbSNP:rs587779505EnsemblClinVar.1
Natural variantiVAR_001785909G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011138909G → V in EDSVASC. Corresponds to variant dbSNP:rs587779483EnsemblClinVar.1
Natural variantiVAR_011139918G → E in EDSVASC. Corresponds to variant dbSNP:rs587779662EnsemblClinVar.1
Natural variantiVAR_011140924G → C in EDSVASC. Corresponds to variant dbSNP:rs587779471EnsemblClinVar.1
Natural variantiVAR_001786936G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779566EnsemblClinVar.1
Natural variantiVAR_001787936G → S in EDSVASC. 1
Natural variantiVAR_001788939G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs112978464Ensembl.1
Natural variantiVAR_011141942G → E in EDSVASC. Corresponds to variant dbSNP:rs587779517EnsemblClinVar.1
Natural variantiVAR_001789957G → S in EDSVASC; severe variant. 1 PublicationCorresponds to variant dbSNP:rs121912913Ensembl.1
Natural variantiVAR_001790960G → V in EDSVASC; severe variant. 1 PublicationCorresponds to variant dbSNP:rs121912922EnsemblClinVar.1
Natural variantiVAR_011142966G → V in EDSVASC. Corresponds to variant dbSNP:rs587779571EnsemblClinVar.1
Natural variantiVAR_011143972G → A in EDSVASC. Corresponds to variant dbSNP:rs587779559EnsemblClinVar.1
Natural variantiVAR_011144984G → T in EDSVASC; requires 2 nucleotide substitutions. 1
Natural variantiVAR_001791996G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779576EnsemblClinVar.1
Natural variantiVAR_011145999G → R in EDSVASC. Corresponds to variant dbSNP:rs587779548EnsemblClinVar.1
Natural variantiVAR_0111461011G → E in EDSVASC. Corresponds to variant dbSNP:rs587779552EnsemblClinVar.1
Natural variantiVAR_0017921014G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912916EnsemblClinVar.1
Natural variantiVAR_0111471032G → V in EDSVASC. Corresponds to variant dbSNP:rs587779428EnsemblClinVar.1
Natural variantiVAR_0111481035G → C in EDSVASC. Corresponds to variant dbSNP:rs587779704EnsemblClinVar.1
Natural variantiVAR_0111491044G → D in EDSVASC. 1 Publication1
Natural variantiVAR_0017931050G → D in EDSVASC; mild variant. 1 PublicationCorresponds to variant dbSNP:rs121912914EnsemblClinVar.1
Natural variantiVAR_0111501050G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912914EnsemblClinVar.1
Natural variantiVAR_0017941071G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779709EnsemblClinVar.1
Natural variantiVAR_0017951077G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912915EnsemblClinVar.1
Natural variantiVAR_0111511089G → D in EDSVASC. Corresponds to variant dbSNP:rs587779672EnsemblClinVar.1
Natural variantiVAR_0111521098G → D in EDSVASC. 1 Publication1
Natural variantiVAR_0111531098G → V in EDSVASC. Corresponds to variant dbSNP:rs587779614EnsemblClinVar.1
Natural variantiVAR_0017961101G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912924EnsemblClinVar.1
Natural variantiVAR_0017971104G → A in EDSVASC. 1 Publication1
Natural variantiVAR_0111541161G → V in EDSVASC. Corresponds to variant dbSNP:rs587779473EnsemblClinVar.1
Natural variantiVAR_0111551164G → E in EDSVASC. Corresponds to variant dbSNP:rs587779431EnsemblClinVar.1
Natural variantiVAR_0111561164G → R in EDSVASC. Corresponds to variant dbSNP:rs587779553EnsemblClinVar.1
Natural variantiVAR_0017991167G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779578EnsemblClinVar.1
Natural variantiVAR_0018001170G → D in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779465EnsemblClinVar.1
Natural variantiVAR_0111571170G → V in EDSVASC. Corresponds to variant dbSNP:rs587779465EnsemblClinVar.1
Natural variantiVAR_0018011173G → E in EDSVASC. 3 PublicationsCorresponds to variant dbSNP:rs121912918EnsemblClinVar.1
Natural variantiVAR_0111581173G → R in EDSVASC; Gottron type acrogeria. 1 PublicationCorresponds to variant dbSNP:rs587779521EnsemblClinVar.1
Natural variantiVAR_0018021176G → V in EDSVASC; severe. 1 Publication1
Natural variantiVAR_0111591179G → R in EDSVASC. Corresponds to variant dbSNP:rs587779574EnsemblClinVar.1
Natural variantiVAR_0018031182G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs111505097EnsemblClinVar.1
Natural variantiVAR_0018041185G → D in EDSVASC; severe variant. 1 PublicationCorresponds to variant dbSNP:rs121912917EnsemblClinVar.1
Natural variantiVAR_0018051185G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912917EnsemblClinVar.1
Natural variantiVAR_0018061188G → E in EDSVASC; severe variant. 2 PublicationsCorresponds to variant dbSNP:rs112456072EnsemblClinVar.1
Natural variantiVAR_0018071188G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779504EnsemblClinVar.1

Keywords - Diseasei

Aortic aneurysm, Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNETi1281
GeneReviewsiCOL3A1
MalaCardsiCOL3A1
MIMi130050 phenotype
OpenTargetsiENSG00000168542
Orphaneti2500 Acrogeria
286 Ehlers-Danlos syndrome, vascular type
86 Familial abdominal aortic aneurysm
231160 Familial cerebral saccular aneurysm
PharmGKBiPA26716

Chemistry databases

ChEMBLiCHEMBL2364188
DrugBankiDB00048 Collagenase clostridium histolyticum

Polymorphism and mutation databases

BioMutaiCOL3A1
DMDMi124056490

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 23Add BLAST23
PropeptideiPRO_000000574024 – 153N-terminal propeptideAdd BLAST130
ChainiPRO_0000005741154 – 1221Collagen alpha-1(III) chainAdd BLAST1068
PropeptideiPRO_00000057421222 – 1466C-terminal propeptideAdd BLAST245

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1734-hydroxyproline1 Publication1
Modified residuei1794-hydroxyproline1 Publication1
Modified residuei1824-hydroxyproline1 Publication1
Modified residuei1854-hydroxyproline1 Publication1
Modified residuei1914-hydroxyproline1 Publication1
Modified residuei1944-hydroxyproline1 Publication1
Modified residuei1974-hydroxyproline1 Publication1
Modified residuei2034-hydroxyproline1 Publication1
Modified residuei2064-hydroxyproline1 Publication1
Modified residuei2154-hydroxyproline1 Publication1
Modified residuei2184-hydroxyproline1 Publication1
Modified residuei2364-hydroxyproline1 Publication1
Modified residuei2394-hydroxyproline1 Publication1
Modified residuei2454-hydroxyproline1 Publication1
Modified residuei2484-hydroxyproline1 Publication1
Modified residuei2574-hydroxyproline1 Publication1
Modified residuei2604-hydroxyproline1 Publication1
Modified residuei2635-hydroxylysine; alternate1 Publication1
Glycosylationi263O-linked (Gal...) hydroxylysine; alternate1
Modified residuei2814-hydroxyproline1 Publication1
Modified residuei2845-hydroxylysine1 Publication1
Modified residuei2904-hydroxyproline1 Publication1
Modified residuei2964-hydroxyproline1 Publication1
Modified residuei3054-hydroxyproline1 Publication1
Modified residuei3114-hydroxyproline1 Publication1
Modified residuei3144-hydroxyproline1 Publication1
Modified residuei3324-hydroxyproline1 Publication1
Modified residuei3354-hydroxyproline1 Publication1
Modified residuei3384-hydroxyproline1 Publication1
Modified residuei3444-hydroxyproline1 Publication1
Modified residuei3474-hydroxyproline1 Publication1
Modified residuei3594-hydroxyproline1 Publication1
Modified residuei3654-hydroxyproline1 Publication1
Modified residuei3714-hydroxyproline1 Publication1
Modified residuei3834-hydroxyproline1 Publication1
Modified residuei3864-hydroxyproline1 Publication1
Modified residuei3924-hydroxyproline1 Publication1
Modified residuei4044-hydroxyproline1 Publication1
Modified residuei4074-hydroxyproline1 Publication1
Modified residuei4164-hydroxyproline1 Publication1
Modified residuei4254-hydroxyproline1 Publication1
Modified residuei4344-hydroxyproline1 Publication1
Modified residuei4434-hydroxyproline1 Publication1
Modified residuei4554-hydroxyproline1 Publication1
Modified residuei4584-hydroxyproline1 Publication1
Modified residuei4704-hydroxyproline1 Publication1
Modified residuei4734-hydroxyproline1 Publication1
Modified residuei4794-hydroxyproline1 Publication1
Modified residuei4884-hydroxyproline1 Publication1
Modified residuei5004-hydroxyproline1 Publication1
Modified residuei5124-hydroxyproline1 Publication1
Modified residuei5244-hydroxyproline1 Publication1
Modified residuei5304-hydroxyproline1 Publication1
Modified residuei5334-hydroxyproline1 Publication1
Modified residuei5394-hydroxyproline1 Publication1
Modified residuei5424-hydroxyproline1 Publication1
Modified residuei5454-hydroxyproline1 Publication1
Modified residuei5514-hydroxyproline1 Publication1
Modified residuei5544-hydroxyproline1 Publication1
Modified residuei5634-hydroxyproline1 Publication1
Modified residuei5664-hydroxyproline1 Publication1
Modified residuei5754-hydroxyproline1 Publication1
Modified residuei5814-hydroxyproline1 Publication1
Modified residuei5904-hydroxyproline1 Publication1
Modified residuei5994-hydroxyproline1 Publication1
Modified residuei6024-hydroxyproline1 Publication1
Modified residuei6084-hydroxyproline1 Publication1
Modified residuei6204-hydroxyproline1 Publication1
Modified residuei6354-hydroxyproline1 Publication1
Modified residuei6444-hydroxyproline1 Publication1
Modified residuei6504-hydroxyproline1 Publication1
Modified residuei6564-hydroxyproline1 Publication1
Modified residuei6594-hydroxyproline1 Publication1
Modified residuei6614-hydroxyproline1 Publication1
Modified residuei6684-hydroxyproline1 Publication1
Modified residuei6714-hydroxyproline1 Publication1
Modified residuei6804-hydroxyproline1 Publication1
Modified residuei6864-hydroxyproline1 Publication1
Modified residuei6924-hydroxyproline1 Publication1
Modified residuei7014-hydroxyproline1 Publication1
Modified residuei7034-hydroxyproline1 Publication1
Modified residuei7134-hydroxyproline1 Publication1
Modified residuei7164-hydroxyproline1 Publication1
Modified residuei7224-hydroxyproline1 Publication1
Modified residuei7284-hydroxyproline1 Publication1
Modified residuei7374-hydroxyproline1 Publication1
Modified residuei7464-hydroxyproline1 Publication1
Modified residuei7494-hydroxyproline1 Publication1
Modified residuei7554-hydroxyproline1 Publication1
Modified residuei7704-hydroxyproline1 Publication1
Modified residuei7764-hydroxyproline1 Publication1
Modified residuei7854-hydroxyproline1 Publication1
Modified residuei7884-hydroxyproline1 Publication1
Modified residuei7974-hydroxyproline1 Publication1
Modified residuei8064-hydroxyproline1 Publication1
Modified residuei8124-hydroxyproline1 Publication1
Modified residuei8154-hydroxyproline1 Publication1
Modified residuei8214-hydroxyproline1 Publication1
Modified residuei8304-hydroxyproline1 Publication1
Modified residuei8394-hydroxyproline1 Publication1
Modified residuei8454-hydroxyproline1 Publication1
Modified residuei8544-hydroxyproline1 Publication1
Modified residuei8605-hydroxylysine1 Publication1
Modified residuei8664-hydroxyproline1 Publication1
Modified residuei8694-hydroxyproline1 Publication1
Modified residuei8754-hydroxyproline1 Publication1
Modified residuei8814-hydroxyproline1 Publication1
Modified residuei8844-hydroxyproline1 Publication1
Modified residuei8904-hydroxyproline1 Publication1
Modified residuei8924-hydroxyproline1 Publication1
Modified residuei8994-hydroxyproline1 Publication1
Modified residuei9054-hydroxyproline1 Publication1
Modified residuei9144-hydroxyproline1 Publication1
Modified residuei9174-hydroxyproline1 Publication1
Modified residuei9294-hydroxyproline1 Publication1
Modified residuei9354-hydroxyproline1 Publication1
Modified residuei9414-hydroxyproline1 Publication1
Modified residuei9444-hydroxyproline1 Publication1
Modified residuei9624-hydroxyproline1 Publication1
Modified residuei9654-hydroxyproline1 Publication1
Modified residuei9714-hydroxyproline1 Publication1
Modified residuei9775-hydroxylysine1 Publication1
Modified residuei9834-hydroxyproline1 Publication1
Modified residuei9954-hydroxyproline1 Publication1
Modified residuei10014-hydroxyproline1 Publication1
Modified residuei10104-hydroxyproline1 Publication1
Modified residuei10164-hydroxyproline1 Publication1
Modified residuei10224-hydroxyproline1 Publication1
Modified residuei10284-hydroxyproline1 Publication1
Modified residuei10404-hydroxyproline1 Publication1
Modified residuei10434-hydroxyproline1 Publication1
Modified residuei10464-hydroxyproline1 Publication1
Modified residuei10494-hydroxyproline1 Publication1
Modified residuei10524-hydroxyproline1 Publication1
Modified residuei10764-hydroxyproline1 Publication1
Modified residuei10854-hydroxyproline1 Publication1
Modified residuei11065-hydroxylysine1 Publication1
Modified residuei11124-hydroxyproline1 Publication1
Modified residuei11154-hydroxyproline1 Publication1
Modified residuei11184-hydroxyproline1 Publication1
Modified residuei11214-hydroxyproline1 Publication1
Modified residuei11334-hydroxyproline1 Publication1
Modified residuei11484-hydroxyproline1 Publication1
Modified residuei11574-hydroxyproline1 Publication1
Modified residuei11634-hydroxyproline1 Publication1
Modified residuei11784-hydroxyproline1 Publication1
Modified residuei11814-hydroxyproline1 Publication1
Modified residuei11844-hydroxyproline1 Publication1
Modified residuei11874-hydroxyproline1 Publication1
Modified residuei11904-hydroxyproline1 Publication1
Modified residuei11934-hydroxyproline1 Publication1
Disulfide bondi1196InterchainPROSITE-ProRule annotation1 Publication
Disulfide bondi1197InterchainPROSITE-ProRule annotation1 Publication
Disulfide bondi1262 ↔ 1294PROSITE-ProRule annotation1 Publication
Disulfide bondi1268Interchain (with C-1285)PROSITE-ProRule annotation1 Publication
Disulfide bondi1285Interchain (with C-1268)PROSITE-ProRule annotation1 Publication
Disulfide bondi1302 ↔ 1464PROSITE-ProRule annotation1 Publication
Disulfide bondi1372 ↔ 1417PROSITE-ProRule annotation1 Publication

Post-translational modificationi

Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.2 Publications
O-linked glycan consists of a Glc-Gal disaccharide bound to the oxygen atom of a post-translationally added hydroxyl group.

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation

Proteomic databases

EPDiP02461
PaxDbiP02461
PeptideAtlasiP02461
PRIDEiP02461
ProteomicsDBi51522
51523 [P02461-2]

PTM databases

GlyConnecti1127
iPTMnetiP02461
PhosphoSitePlusiP02461

Expressioni

Gene expression databases

BgeeiENSG00000168542 Expressed in 229 organ(s), highest expression level in uterine cervix
ExpressionAtlasiP02461 baseline and differential
GenevisibleiP02461 HS

Organism-specific databases

HPAiCAB016766
CAB059993
HPA007583

Interactioni

Subunit structurei

Trimers of identical alpha 1(III) chains. The chains are linked to each other by interchain disulfide bonds. Trimers are also cross-linked via hydroxylysines.

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107678, 12 interactors
ComplexPortaliCPX-1714 Collagen type III trimer
DIPiDIP-57177N
IntActiP02461, 23 interactors
MINTiP02461
STRINGi9606.ENSP00000304408

Structurei

Secondary structure

11466
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP02461
SMRiP02461
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02461

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 89VWFCPROSITE-ProRule annotationAdd BLAST60
Domaini1232 – 1466Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST235

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni149 – 167Nonhelical region (N-terminal)Add BLAST19
Regioni168 – 1196Triple-helical regionAdd BLAST1029
Regioni1197 – 1205Nonhelical region (C-terminal)9

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.

Sequence similaritiesi

Belongs to the fibrillar collagen family.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00900000140789
HOVERGENiHBG004933
InParanoidiP02461
KOiK19720
OMAiCRDLKFC
OrthoDBiEOG091G03LV
PhylomeDBiP02461
TreeFamiTF344135

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
IPR000885 Fib_collagen_C
IPR001007 VWF_dom
PfamiView protein in Pfam
PF01410 COLFI, 1 hit
PF01391 Collagen, 8 hits
PF00093 VWC, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD002078 Fib_collagen_C, 1 hit
SMARTiView protein in SMART
SM00038 COLFI, 1 hit
SM00214 VWC, 1 hit
PROSITEiView protein in PROSITE
PS51461 NC1_FIB, 1 hit
PS01208 VWFC_1, 1 hit
PS50184 VWFC_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P02461-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MMSFVQKGSW LLLALLHPTI ILAQQEAVEG GCSHLGQSYA DRDVWKPEPC
60 70 80 90 100
QICVCDSGSV LCDDIICDDQ ELDCPNPEIP FGECCAVCPQ PPTAPTRPPN
110 120 130 140 150
GQGPQGPKGD PGPPGIPGRN GDPGIPGQPG SPGSPGPPGI CESCPTGPQN
160 170 180 190 200
YSPQYDSYDV KSGVAVGGLA GYPGPAGPPG PPGPPGTSGH PGSPGSPGYQ
210 220 230 240 250
GPPGEPGQAG PSGPPGPPGA IGPSGPAGKD GESGRPGRPG ERGLPGPPGI
260 270 280 290 300
KGPAGIPGFP GMKGHRGFDG RNGEKGETGA PGLKGENGLP GENGAPGPMG
310 320 330 340 350
PRGAPGERGR PGLPGAAGAR GNDGARGSDG QPGPPGPPGT AGFPGSPGAK
360 370 380 390 400
GEVGPAGSPG SNGAPGQRGE PGPQGHAGAQ GPPGPPGING SPGGKGEMGP
410 420 430 440 450
AGIPGAPGLM GARGPPGPAG ANGAPGLRGG AGEPGKNGAK GEPGPRGERG
460 470 480 490 500
EAGIPGVPGA KGEDGKDGSP GEPGANGLPG AAGERGAPGF RGPAGPNGIP
510 520 530 540 550
GEKGPAGERG APGPAGPRGA AGEPGRDGVP GGPGMRGMPG SPGGPGSDGK
560 570 580 590 600
PGPPGSQGES GRPGPPGPSG PRGQPGVMGF PGPKGNDGAP GKNGERGGPG
610 620 630 640 650
GPGPQGPPGK NGETGPQGPP GPTGPGGDKG DTGPPGPQGL QGLPGTGGPP
660 670 680 690 700
GENGKPGEPG PKGDAGAPGA PGGKGDAGAP GERGPPGLAG APGLRGGAGP
710 720 730 740 750
PGPEGGKGAA GPPGPPGAAG TPGLQGMPGE RGGLGSPGPK GDKGEPGGPG
760 770 780 790 800
ADGVPGKDGP RGPTGPIGPP GPAGQPGDKG EGGAPGLPGI AGPRGSPGER
810 820 830 840 850
GETGPPGPAG FPGAPGQNGE PGGKGERGAP GEKGEGGPPG VAGPPGGSGP
860 870 880 890 900
AGPPGPQGVK GERGSPGGPG AAGFPGARGL PGPPGSNGNP GPPGPSGSPG
910 920 930 940 950
KDGPPGPAGN TGAPGSPGVS GPKGDAGQPG EKGSPGAQGP PGAPGPLGIA
960 970 980 990 1000
GITGARGLAG PPGMPGPRGS PGPQGVKGES GKPGANGLSG ERGPPGPQGL
1010 1020 1030 1040 1050
PGLAGTAGEP GRDGNPGSDG LPGRDGSPGG KGDRGENGSP GAPGAPGHPG
1060 1070 1080 1090 1100
PPGPVGPAGK SGDRGESGPA GPAGAPGPAG SRGAPGPQGP RGDKGETGER
1110 1120 1130 1140 1150
GAAGIKGHRG FPGNPGAPGS PGPAGQQGAI GSPGPAGPRG PVGPSGPPGK
1160 1170 1180 1190 1200
DGTSGHPGPI GPPGPRGNRG ERGSEGSPGH PGQPGPPGPP GAPGPCCGGV
1210 1220 1230 1240 1250
GAAAIAGIGG EKAGGFAPYY GDEPMDFKIN TDEIMTSLKS VNGQIESLIS
1260 1270 1280 1290 1300
PDGSRKNPAR NCRDLKFCHP ELKSGEYWVD PNQGCKLDAI KVFCNMETGE
1310 1320 1330 1340 1350
TCISANPLNV PRKHWWTDSS AEKKHVWFGE SMDGGFQFSY GNPELPEDVL
1360 1370 1380 1390 1400
DVHLAFLRLL SSRASQNITY HCKNSIAYMD QASGNVKKAL KLMGSNEGEF
1410 1420 1430 1440 1450
KAEGNSKFTY TVLEDGCTKH TGEWSKTVFE YRTRKAVRLP IVDIAPYDIG
1460
GPDQEFGVDV GPVCFL
Length:1,466
Mass (Da):138,564
Last modified:January 23, 2007 - v4
Checksum:iB904B4E05E17D339
GO
Isoform 2 (identifier: P02461-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     847-1149: Missing.

Note: No experimental confirmation available.
Show »
Length:1,163
Mass (Da):111,907
Checksum:iBE06E5CA84FBB829
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C435H7C435_HUMAN
Collagen alpha-1(III) chain
COL3A1
90Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti163G → GG in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti168G → V AA sequence (PubMed:557335).Curated1
Sequence conflicti226 – 228Missing AA sequence (PubMed:557335).Curated3
Sequence conflicti241E → D in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti278T → A AA sequence (PubMed:557335).Curated1
Sequence conflicti293 – 295NGA → DGS AA sequence (PubMed:557335).Curated3
Sequence conflicti401A → L AA sequence (PubMed:7864881).Curated1
Sequence conflicti409L → P AA sequence (PubMed:7864881).Curated1
Sequence conflicti472E → D in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti488 – 490PGF → LGS in CAA33387 (PubMed:2780304).Curated3
Sequence conflicti589A → E AA sequence (PubMed:7864881).Curated1
Sequence conflicti614T → Y in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti635P → R in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti664D → E in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti676D → N AA sequence (PubMed:687591).Curated1
Sequence conflicti803T → P AA sequence (PubMed:7864881).Curated1
Sequence conflicti896S → A AA sequence (PubMed:6246925).Curated1
Sequence conflicti980S → A AA sequence (PubMed:7016180).Curated1
Sequence conflicti985 – 989ANGLS → PSGQN AA sequence (PubMed:7016180).Curated5
Sequence conflicti1019D → Y in CAA29886 (PubMed:3357782).Curated1
Sequence conflicti1067S → P AA sequence (PubMed:7864881).Curated1
Sequence conflicti1070A → P AA sequence (PubMed:7864881).Curated1
Sequence conflicti1097T → P AA sequence (PubMed:7016180).Curated1
Sequence conflicti1153 – 1154TS → AT AA sequence (PubMed:7016180).Curated2
Sequence conflicti1156H → S AA sequence (PubMed:7016180).Curated1
Sequence conflicti1184P → S in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti1203A → P in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti1210G → A in CAA33387 (PubMed:2780304).Curated1
Sequence conflicti1222D → P in AAA52002 (PubMed:2579949).Curated1
Sequence conflicti1235M → I in AAA52002 (PubMed:2579949).Curated1
Sequence conflicti1241V → A in CAA29886 (PubMed:3357782).Curated1
Sequence conflicti1241V → A in CAA25879 (PubMed:6096827).Curated1
Sequence conflicti1274S → T in AAA52002 (PubMed:2579949).Curated1
Sequence conflicti1332M → I in AAA52002 (PubMed:2579949).Curated1
Sequence conflicti1357L → P in AAA52002 (PubMed:2579949).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001767169L → F. Corresponds to variant dbSNP:rs111391222EnsemblClinVar.1
Natural variantiVAR_001768183G → C in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs121912926EnsemblClinVar.1
Natural variantiVAR_011095183G → D in EDSVASC. Corresponds to variant dbSNP:rs587779420EnsemblClinVar.1
Natural variantiVAR_011096183G → S in EDSVASC. Corresponds to variant dbSNP:rs121912926EnsemblClinVar.1
Natural variantiVAR_011097192G → V in EDSVASC. Corresponds to variant dbSNP:rs587779710EnsemblClinVar.1
Natural variantiVAR_001769201G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779436EnsemblClinVar.1
Natural variantiVAR_011098204G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779626EnsemblClinVar.1
Natural variantiVAR_011099204G → S in EDSVASC. Corresponds to variant dbSNP:rs587779711EnsemblClinVar.1
Natural variantiVAR_011100210G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011101219G → C in EDSVASC. Corresponds to variant dbSNP:rs587779624EnsemblClinVar.1
Natural variantiVAR_011102225G → V in EDSVASC. Corresponds to variant dbSNP:rs587779533EnsemblClinVar.1
Natural variantiVAR_001770228G → E in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779555EnsemblClinVar.1
Natural variantiVAR_011103240G → R in EDSVASC. Corresponds to variant dbSNP:rs587779468EnsemblClinVar.1
Natural variantiVAR_011104243G → V in EDSVASC. Corresponds to variant dbSNP:rs587779629EnsemblClinVar.1
Natural variantiVAR_011105249G → D in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar.1
Natural variantiVAR_011106249G → V in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar.1
Natural variantiVAR_011107252G → D in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar.1
Natural variantiVAR_011108252G → R in EDSVASC. Corresponds to variant dbSNP:rs587779705EnsemblClinVar.1
Natural variantiVAR_011109252G → V in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar.1
Natural variantiVAR_011110255G → V in EDSVASC. Corresponds to variant dbSNP:rs587779605EnsemblClinVar.1
Natural variantiVAR_011111264G → R in EDSVASC. 1 Publication1
Natural variantiVAR_011112267G → V in EDSVASC. Corresponds to variant dbSNP:rs587779427EnsemblClinVar.1
Natural variantiVAR_037007297G → R in EDSVASC. 1 Publication1
Natural variantiVAR_001771303G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912919EnsemblClinVar.1
Natural variantiVAR_011113321G → V in EDSVASC. Corresponds to variant dbSNP:rs587779588EnsemblClinVar.1
Natural variantiVAR_011114327G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011115345G → R in EDSVASC. Corresponds to variant dbSNP:rs587779419EnsemblClinVar.1
Natural variantiVAR_011116417G → R in EDSVASC. Corresponds to variant dbSNP:rs587779637EnsemblClinVar.1
Natural variantiVAR_035738420G → S in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587779692EnsemblClinVar.1
Natural variantiVAR_011117444G → R in EDSVASC. Corresponds to variant dbSNP:rs587779489EnsemblClinVar.1
Natural variantiVAR_011118489G → E in EDSVASC. Corresponds to variant dbSNP:rs587779476EnsemblClinVar.1
Natural variantiVAR_011119501G → R in EDSVASC. Corresponds to variant dbSNP:rs587779523EnsemblClinVar.1
Natural variantiVAR_011120519G → V in EDSVASC. 1
Natural variantiVAR_055665534G → E. Corresponds to variant dbSNP:rs41263744Ensembl.1
Natural variantiVAR_001772540G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779584EnsemblClinVar.1
Natural variantiVAR_011121549G → E in EDSVASC. Corresponds to variant dbSNP:rs587779679EnsemblClinVar.1
Natural variantiVAR_011122552G → E in EDSVASC. Corresponds to variant dbSNP:rs121912928EnsemblClinVar.1
Natural variantiVAR_001773567G → E in EDSVASC. 1 Publication1
Natural variantiVAR_001774582G → S in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912923EnsemblClinVar.1
Natural variantiVAR_011123588G → D in EDSVASC. Corresponds to variant dbSNP:rs587779691EnsemblClinVar.1
Natural variantiVAR_001775602P → T1 PublicationCorresponds to variant dbSNP:rs35795890EnsemblClinVar.1
Natural variantiVAR_001776635P → L1 Publication1
Natural variantiVAR_011124636G → R in EDSVASC. Corresponds to variant dbSNP:rs587779522EnsemblClinVar.1
Natural variantiVAR_011125657G → E in EDSVASC. Corresponds to variant dbSNP:rs587779699EnsemblClinVar.1
Natural variantiVAR_011126660G → D in EDSVASC. Corresponds to variant dbSNP:rs587779493EnsemblClinVar.1
Natural variantiVAR_001777666G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912921EnsemblClinVar.1
Natural variantiVAR_011127668P → T1 PublicationCorresponds to variant dbSNP:rs1801183EnsemblClinVar.1
Natural variantiVAR_055666679A → T1 PublicationCorresponds to variant dbSNP:rs41263773EnsemblClinVar.1
Natural variantiVAR_055667686P → A. Corresponds to variant dbSNP:rs41263775EnsemblClinVar.1
Natural variantiVAR_001778698A → T2 PublicationsCorresponds to variant dbSNP:rs1800255EnsemblClinVar.1
Natural variantiVAR_011128699G → R in EDSVASC. Corresponds to variant dbSNP:rs587779668EnsemblClinVar.1
Natural variantiVAR_001779726G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779638EnsemblClinVar.1
Natural variantiVAR_011129738G → S in EDSVASC. Corresponds to variant dbSNP:rs121912925EnsemblClinVar.1
Natural variantiVAR_011130738G → V in EDSVASC. Corresponds to variant dbSNP:rs587779615EnsemblClinVar.1
Natural variantiVAR_011131744G → V in EDSVASC. Corresponds to variant dbSNP:rs587779697EnsemblClinVar.1
Natural variantiVAR_001780756G → E in EDSVASC. 1 Publication1
Natural variantiVAR_001781762G → C in EDSVASC. 1 Publication1
Natural variantiVAR_001782786G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs113485686EnsemblClinVar.1
Natural variantiVAR_001783804G → S in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912920EnsemblClinVar.1
Natural variantiVAR_001784828G → R in EDSVASC. 1 Publication1
Natural variantiVAR_011132828G → W in EDSVASC. Corresponds to variant dbSNP:rs587779486EnsemblClinVar.1
Natural variantiVAR_037008830 – 838Missing in EDSVASC. 1 Publication9
Natural variantiVAR_011133852G → C in EDSVASC. Corresponds to variant dbSNP:rs587779690EnsemblClinVar.1
Natural variantiVAR_011134879G → V in EDSVASC. Corresponds to variant dbSNP:rs587779645EnsemblClinVar.1
Natural variantiVAR_011135882G → D in EDSVASC. Corresponds to variant dbSNP:rs587779622EnsemblClinVar.1
Natural variantiVAR_011136900G → D in EDSVASC. Corresponds to variant dbSNP:rs587779599EnsemblClinVar.1
Natural variantiVAR_011137903G → E in EDSVASC. Corresponds to variant dbSNP:rs587779505EnsemblClinVar.1
Natural variantiVAR_001785909G → D in EDSVASC. 1 Publication1
Natural variantiVAR_011138909G → V in EDSVASC. Corresponds to variant dbSNP:rs587779483EnsemblClinVar.1
Natural variantiVAR_011139918G → E in EDSVASC. Corresponds to variant dbSNP:rs587779662EnsemblClinVar.1
Natural variantiVAR_011140924G → C in EDSVASC. Corresponds to variant dbSNP:rs587779471EnsemblClinVar.1
Natural variantiVAR_001786936G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779566EnsemblClinVar.1
Natural variantiVAR_001787936G → S in EDSVASC. 1
Natural variantiVAR_001788939G → D in EDSVASC. 1 Publication