UniProtKB - P02461 (CO3A1_HUMAN)
Protein
Collagen alpha-1(III) chain
Gene
COL3A1
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 1280 | Calcium | 1 | |
Metal bindingi | 1282 | Calcium | 1 | |
Metal bindingi | 1283 | Calcium; via carbonyl oxygen | 1 | |
Metal bindingi | 1285 | Calcium; via carbonyl oxygen | 1 | |
Metal bindingi | 1288 | Calcium | 1 |
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
- aorta smooth muscle tissue morphogenesis Source: Ensembl
- cell-matrix adhesion Source: UniProtKB
- cellular response to amino acid stimulus Source: Ensembl
- cerebral cortex development Source: UniProtKB
- collagen fibril organization Source: UniProtKB
- digestive tract development Source: Ensembl
- extracellular matrix organization Source: GO_Central
- heart development Source: UniProtKB
- integrin-mediated signaling pathway Source: UniProtKB
- negative regulation of immune response Source: UniProtKB
- negative regulation of neuron migration Source: UniProtKB
- peptide cross-linking Source: UniProtKB
- platelet activation Source: UniProtKB
- positive regulation of Rho protein signal transduction Source: UniProtKB
- regulation of immune response Source: Reactome
- response to cytokine Source: UniProtKB
- response to mechanical stimulus Source: Ensembl
- response to radiation Source: UniProtKB
- skeletal system development Source: Ensembl
- skin development Source: UniProtKB
- supramolecular fiber organization Source: UniProtKB
- transforming growth factor beta receptor signaling pathway Source: UniProtKB
- wound healing Source: UniProtKB
Keywordsi
Ligand | Calcium, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | P02461 |
Reactomei | R-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 |
SIGNORi | P02461 |
Names & Taxonomyi
Protein namesi | Recommended name: Collagen alpha-1(III) chain |
Gene namesi | Name:COL3A1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000168542.12 |
HGNCi | HGNC:2201, COL3A1 |
MIMi | 120180, gene |
neXtProti | NX_P02461 |
Subcellular locationi
Extracellular region or secreted
- extracellular matrix PROSITE-ProRule annotation
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Extracellular region or secreted
- collagen type III trimer Source: CAFA
- collagen-containing extracellular matrix Source: UniProtKB
- extracellular matrix Source: GO_Central
- extracellular region Source: BHF-UCL
- extracellular space Source: UniProtKB
Keywords - Cellular componenti
Extracellular matrix, SecretedPathology & 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_001768 | 183 | G → C in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs121912926EnsemblClinVar. | 1 | |
Natural variantiVAR_011095 | 183 | G → D in EDSVASC. Corresponds to variant dbSNP:rs587779420EnsemblClinVar. | 1 | |
Natural variantiVAR_011096 | 183 | G → S in EDSVASC. Corresponds to variant dbSNP:rs121912926EnsemblClinVar. | 1 | |
Natural variantiVAR_011097 | 192 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779710EnsemblClinVar. | 1 | |
Natural variantiVAR_001769 | 201 | G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779436EnsemblClinVar. | 1 | |
Natural variantiVAR_011098 | 204 | G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779626EnsemblClinVar. | 1 | |
Natural variantiVAR_011099 | 204 | G → S in EDSVASC. Corresponds to variant dbSNP:rs587779711EnsemblClinVar. | 1 | |
Natural variantiVAR_011100 | 210 | G → D in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011101 | 219 | G → C in EDSVASC. Corresponds to variant dbSNP:rs587779624EnsemblClinVar. | 1 | |
Natural variantiVAR_011102 | 225 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779533EnsemblClinVar. | 1 | |
Natural variantiVAR_001770 | 228 | G → E in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779555EnsemblClinVar. | 1 | |
Natural variantiVAR_011103 | 240 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779468EnsemblClinVar. | 1 | |
Natural variantiVAR_011104 | 243 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779629EnsemblClinVar. | 1 | |
Natural variantiVAR_011105 | 249 | G → D in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar. | 1 | |
Natural variantiVAR_011106 | 249 | G → V in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar. | 1 | |
Natural variantiVAR_011107 | 252 | G → D in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar. | 1 | |
Natural variantiVAR_011108 | 252 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779705EnsemblClinVar. | 1 | |
Natural variantiVAR_011109 | 252 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar. | 1 | |
Natural variantiVAR_011110 | 255 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779605EnsemblClinVar. | 1 | |
Natural variantiVAR_011111 | 264 | G → R in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011112 | 267 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779427EnsemblClinVar. | 1 | |
Natural variantiVAR_037007 | 297 | G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs1553507557EnsemblClinVar. | 1 | |
Natural variantiVAR_001771 | 303 | G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912919EnsemblClinVar. | 1 | |
Natural variantiVAR_011113 | 321 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779588EnsemblClinVar. | 1 | |
Natural variantiVAR_011114 | 327 | G → D in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011115 | 345 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779419EnsemblClinVar. | 1 | |
Natural variantiVAR_011116 | 417 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779637EnsemblClinVar. | 1 | |
Natural variantiVAR_011117 | 444 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779489EnsemblClinVar. | 1 | |
Natural variantiVAR_011118 | 489 | G → E in EDSVASC. Corresponds to variant dbSNP:rs587779476EnsemblClinVar. | 1 | |
Natural variantiVAR_011119 | 501 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779523EnsemblClinVar. | 1 | |
Natural variantiVAR_011120 | 519 | G → V in EDSVASC. | 1 | |
Natural variantiVAR_001772 | 540 | G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779584EnsemblClinVar. | 1 | |
Natural variantiVAR_011121 | 549 | G → E in EDSVASC. Corresponds to variant dbSNP:rs587779679EnsemblClinVar. | 1 | |
Natural variantiVAR_011122 | 552 | G → E in EDSVASC. Corresponds to variant dbSNP:rs121912928EnsemblClinVar. | 1 | |
Natural variantiVAR_001773 | 567 | G → E in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_001774 | 582 | G → S in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912923EnsemblClinVar. | 1 | |
Natural variantiVAR_011123 | 588 | G → D in EDSVASC. Corresponds to variant dbSNP:rs587779691EnsemblClinVar. | 1 | |
Natural variantiVAR_011124 | 636 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779522EnsemblClinVar. | 1 | |
Natural variantiVAR_011125 | 657 | G → E in EDSVASC. Corresponds to variant dbSNP:rs587779699EnsemblClinVar. | 1 | |
Natural variantiVAR_011126 | 660 | G → D in EDSVASC. Corresponds to variant dbSNP:rs587779493EnsemblClinVar. | 1 | |
Natural variantiVAR_001777 | 666 | G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912921EnsemblClinVar. | 1 | |
Natural variantiVAR_011128 | 699 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779668EnsemblClinVar. | 1 | |
Natural variantiVAR_001779 | 726 | G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779638EnsemblClinVar. | 1 | |
Natural variantiVAR_011129 | 738 | G → S in EDSVASC. Corresponds to variant dbSNP:rs121912925EnsemblClinVar. | 1 | |
Natural variantiVAR_011130 | 738 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779615EnsemblClinVar. | 1 | |
Natural variantiVAR_011131 | 744 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779697EnsemblClinVar. | 1 | |
Natural variantiVAR_001780 | 756 | G → E in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_001781 | 762 | G → C in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_001782 | 786 | G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs113485686EnsemblClinVar. | 1 | |
Natural variantiVAR_001783 | 804 | G → S in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912920EnsemblClinVar. | 1 | |
Natural variantiVAR_001784 | 828 | G → R in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011132 | 828 | G → W in EDSVASC. Corresponds to variant dbSNP:rs587779486EnsemblClinVar. | 1 | |
Natural variantiVAR_037008 | 830 – 838 | Missing in EDSVASC. 1 Publication | 9 | |
Natural variantiVAR_011133 | 852 | G → C in EDSVASC. Corresponds to variant dbSNP:rs587779690EnsemblClinVar. | 1 | |
Natural variantiVAR_011134 | 879 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779645EnsemblClinVar. | 1 | |
Natural variantiVAR_011135 | 882 | G → D in EDSVASC. Corresponds to variant dbSNP:rs587779622EnsemblClinVar. | 1 | |
Natural variantiVAR_011136 | 900 | G → D in EDSVASC. Corresponds to variant dbSNP:rs587779599EnsemblClinVar. | 1 | |
Natural variantiVAR_011137 | 903 | G → E in EDSVASC. Corresponds to variant dbSNP:rs587779505EnsemblClinVar. | 1 | |
Natural variantiVAR_001785 | 909 | G → D in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011138 | 909 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779483EnsemblClinVar. | 1 | |
Natural variantiVAR_011139 | 918 | G → E in EDSVASC. Corresponds to variant dbSNP:rs587779662EnsemblClinVar. | 1 | |
Natural variantiVAR_011140 | 924 | G → C in EDSVASC. Corresponds to variant dbSNP:rs587779471EnsemblClinVar. | 1 | |
Natural variantiVAR_001786 | 936 | G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779566EnsemblClinVar. | 1 | |
Natural variantiVAR_001787 | 936 | G → S in EDSVASC. | 1 | |
Natural variantiVAR_001788 | 939 | G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs112978464Ensembl. | 1 | |
Natural variantiVAR_011141 | 942 | G → E in EDSVASC. Corresponds to variant dbSNP:rs587779517EnsemblClinVar. | 1 | |
Natural variantiVAR_001789 | 957 | G → S in EDSVASC; severe variant. 1 PublicationCorresponds to variant dbSNP:rs121912913Ensembl. | 1 | |
Natural variantiVAR_001790 | 960 | G → V in EDSVASC; severe variant. 1 PublicationCorresponds to variant dbSNP:rs121912922EnsemblClinVar. | 1 | |
Natural variantiVAR_011142 | 966 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779571EnsemblClinVar. | 1 | |
Natural variantiVAR_011143 | 972 | G → A in EDSVASC. Corresponds to variant dbSNP:rs587779559EnsemblClinVar. | 1 | |
Natural variantiVAR_011144 | 984 | G → T in EDSVASC; requires 2 nucleotide substitutions. Corresponds to variant dbSNP:rs1559061242EnsemblClinVar. | 1 | |
Natural variantiVAR_001791 | 996 | G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779576EnsemblClinVar. | 1 | |
Natural variantiVAR_011145 | 999 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779548EnsemblClinVar. | 1 | |
Natural variantiVAR_011146 | 1011 | G → E in EDSVASC. Corresponds to variant dbSNP:rs587779552EnsemblClinVar. | 1 | |
Natural variantiVAR_001792 | 1014 | G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912916EnsemblClinVar. | 1 | |
Natural variantiVAR_011147 | 1032 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779428EnsemblClinVar. | 1 | |
Natural variantiVAR_011148 | 1035 | G → C in EDSVASC. Corresponds to variant dbSNP:rs587779704EnsemblClinVar. | 1 | |
Natural variantiVAR_011149 | 1044 | G → D in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_001793 | 1050 | G → D in EDSVASC; mild variant. 1 PublicationCorresponds to variant dbSNP:rs121912914EnsemblClinVar. | 1 | |
Natural variantiVAR_011150 | 1050 | G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912914EnsemblClinVar. | 1 | |
Natural variantiVAR_001794 | 1071 | G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779709EnsemblClinVar. | 1 | |
Natural variantiVAR_001795 | 1077 | G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912915EnsemblClinVar. | 1 | |
Natural variantiVAR_011151 | 1089 | G → D in EDSVASC. Corresponds to variant dbSNP:rs587779672EnsemblClinVar. | 1 | |
Natural variantiVAR_011152 | 1098 | G → D in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011153 | 1098 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779614EnsemblClinVar. | 1 | |
Natural variantiVAR_001796 | 1101 | G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912924EnsemblClinVar. | 1 | |
Natural variantiVAR_001797 | 1104 | G → A in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011154 | 1161 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779473EnsemblClinVar. | 1 | |
Natural variantiVAR_011155 | 1164 | G → E in EDSVASC. Corresponds to variant dbSNP:rs587779431EnsemblClinVar. | 1 | |
Natural variantiVAR_011156 | 1164 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779553EnsemblClinVar. | 1 | |
Natural variantiVAR_001799 | 1167 | G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779578EnsemblClinVar. | 1 | |
Natural variantiVAR_001800 | 1170 | G → D in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779465EnsemblClinVar. | 1 | |
Natural variantiVAR_011157 | 1170 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779465EnsemblClinVar. | 1 | |
Natural variantiVAR_001801 | 1173 | G → E in EDSVASC. 3 PublicationsCorresponds to variant dbSNP:rs121912918EnsemblClinVar. | 1 | |
Natural variantiVAR_011158 | 1173 | G → R in EDSVASC; Gottron type acrogeria. 1 PublicationCorresponds to variant dbSNP:rs587779521EnsemblClinVar. | 1 | |
Natural variantiVAR_001802 | 1176 | G → V in EDSVASC; severe. 1 Publication | 1 | |
Natural variantiVAR_011159 | 1179 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779574EnsemblClinVar. | 1 | |
Natural variantiVAR_001803 | 1182 | G → E in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs111505097EnsemblClinVar. | 1 | |
Natural variantiVAR_001804 | 1185 | G → D in EDSVASC; severe variant. 1 PublicationCorresponds to variant dbSNP:rs121912917EnsemblClinVar. | 1 | |
Natural variantiVAR_001805 | 1185 | G → V in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912917EnsemblClinVar. | 1 | |
Natural variantiVAR_001806 | 1188 | G → E in EDSVASC; severe variant. 2 PublicationsCorresponds to variant dbSNP:rs112456072EnsemblClinVar. | 1 | |
Natural variantiVAR_001807 | 1188 | G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779504EnsemblClinVar. | 1 |
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082043 | 49 | P → A in PMGEDSV; does not affect interaction with ADGRG1. 2 PublicationsCorresponds to variant dbSNP:rs1234344050EnsemblClinVar. | 1 | |
Natural variantiVAR_082044 | 428 – 1466 | Missing in PMGEDSV. 1 PublicationAdd BLAST | 1039 | |
Natural variantiVAR_082045 | 596 – 1466 | Missing in PMGEDSV. 1 PublicationAdd BLAST | 871 | |
Natural variantiVAR_082046 | 1284 | G → E in PMGEDSV. 1 PublicationCorresponds to variant dbSNP:rs587779528EnsemblClinVar. | 1 |
Keywords - Diseasei
Aortic aneurysm, Disease mutation, Ehlers-Danlos syndromeOrganism-specific databases
DisGeNETi | 1281 |
GeneReviewsi | COL3A1 |
MalaCardsi | COL3A1 |
MIMi | 130050, phenotype 618343, phenotype |
OpenTargetsi | ENSG00000168542 |
Orphaneti | 2500, Acrogeria 86, Familial abdominal aortic aneurysm 231160, Familial cerebral saccular aneurysm 286, Vascular Ehlers-Danlos syndrome |
PharmGKBi | PA26716 |
Miscellaneous databases
Pharosi | P02461, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2364188 |
DrugBanki | DB00048, Collagenase clostridium histolyticum |
Polymorphism and mutation databases
BioMutai | COL3A1 |
DMDMi | 124056490 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 23 | Add BLAST | 23 | |
PropeptideiPRO_0000005740 | 24 – 153 | N-terminal propeptideAdd BLAST | 130 | |
ChainiPRO_0000005741 | 154 – 1221 | Collagen alpha-1(III) chainAdd BLAST | 1068 | |
PropeptideiPRO_0000005742 | 1222 – 1466 | C-terminal propeptideAdd BLAST | 245 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 173 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 179 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 182 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 185 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 191 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 194 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 197 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 203 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 206 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 215 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 218 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 236 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 239 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 245 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 248 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 257 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 260 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 263 | 5-hydroxylysine; alternate1 Publication | 1 | |
Glycosylationi | 263 | O-linked (Gal...) hydroxylysine; alternate | 1 | |
Modified residuei | 281 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 284 | 5-hydroxylysine1 Publication | 1 | |
Modified residuei | 290 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 296 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 305 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 311 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 314 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 332 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 335 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 338 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 344 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 347 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 359 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 365 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 371 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 383 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 386 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 392 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 404 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 407 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 416 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 425 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 434 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 443 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 455 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 458 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 470 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 473 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 479 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 488 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 500 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 512 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 524 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 530 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 533 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 539 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 542 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 545 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 551 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 554 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 563 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 566 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 575 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 581 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 590 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 599 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 602 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 608 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 620 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 635 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 644 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 650 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 656 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 659 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 661 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 668 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 671 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 680 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 686 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 692 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 701 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 703 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 713 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 716 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 722 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 728 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 737 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 746 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 749 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 755 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 770 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 776 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 785 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 788 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 797 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 806 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 812 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 815 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 821 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 830 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 839 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 845 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 854 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 860 | 5-hydroxylysine1 Publication | 1 | |
Modified residuei | 866 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 869 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 875 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 881 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 884 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 890 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 892 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 899 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 905 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 914 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 917 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 929 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 935 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 941 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 944 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 962 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 965 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 971 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 977 | 5-hydroxylysine1 Publication | 1 | |
Modified residuei | 983 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 995 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1001 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1010 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1016 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1022 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1028 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1040 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1043 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1046 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1049 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1052 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1076 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1085 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1106 | 5-hydroxylysine1 Publication | 1 | |
Modified residuei | 1112 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1115 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1118 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1121 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1133 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1148 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1157 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1163 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1178 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1181 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1184 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1187 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1190 | 4-hydroxyproline1 Publication | 1 | |
Modified residuei | 1193 | 4-hydroxyproline1 Publication | 1 | |
Disulfide bondi | 1196 | InterchainPROSITE-ProRule annotation1 Publication | ||
Disulfide bondi | 1197 | InterchainPROSITE-ProRule annotation1 Publication | ||
Disulfide bondi | 1262 ↔ 1294 | PROSITE-ProRule annotation1 Publication | ||
Disulfide bondi | 1268 | Interchain (with C-1285)PROSITE-ProRule annotation1 Publication | ||
Disulfide bondi | 1285 | Interchain (with C-1268)PROSITE-ProRule annotation1 Publication | ||
Disulfide bondi | 1302 ↔ 1464 | PROSITE-ProRule annotation1 Publication | ||
Disulfide bondi | 1372 ↔ 1417 | PROSITE-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, HydroxylationProteomic databases
CPTACi | CPTAC-1180 |
jPOSTi | P02461 |
MassIVEi | P02461 |
PaxDbi | P02461 |
PeptideAtlasi | P02461 |
PRIDEi | P02461 |
ProteomicsDBi | 51522 [P02461-1] 51523 [P02461-2] |
PTM databases
GlyConnecti | 1127, 6 N-Linked glycans (1 site) |
GlyGeni | P02461, 5 sites, 2 O-linked glycans (3 sites) |
iPTMneti | P02461 |
PhosphoSitePlusi | P02461 |
Expressioni
Gene expression databases
Bgeei | ENSG00000168542, Expressed in uterine cervix and 239 other tissues |
ExpressionAtlasi | P02461, baseline and differential |
Genevisiblei | P02461, HS |
Organism-specific databases
HPAi | ENSG00000168542, Tissue enhanced (cervix, uterine, endometrium) |
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.
Interacts with ADGRG1 (PubMed:28258187).
1 PublicationBinary interactionsi
Hide detailsP02461
With | #Exp. | IntAct |
---|---|---|
AAEL010235 [O01949] from Aedes aegypti. | 2 | EBI-2431491,EBI-7685554 |
Isoform 1 [P02461-1]
With | #Exp. | IntAct |
---|---|---|
SPARC [P09486] | 4 | EBI-15740444,EBI-2800983 |
Isoform 2 [P02461-2]
With | #Exp. | IntAct |
---|---|---|
AP2B1 - isoform 2 [P63010-2] | 3 | EBI-12214501,EBI-11529439 |
KLHL12 [Q53G59] | 3 | EBI-12214501,EBI-740929 |
GO - Molecular functioni
- integrin binding Source: UniProtKB
- platelet-derived growth factor binding Source: MGI
- protease binding Source: CAFA
- SMAD binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 107678, 14 interactors |
ComplexPortali | CPX-1714, Collagen type III trimer |
DIPi | DIP-57177N |
IntActi | P02461, 29 interactors |
MINTi | P02461 |
STRINGi | 9606.ENSP00000304408 |
Miscellaneous databases
RNActi | P02461, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P02461 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P02461 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 30 – 89 | VWFCPROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 1232 – 1466 | Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST | 235 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 149 – 167 | Nonhelical region (N-terminal)Add BLAST | 19 | |
Regioni | 168 – 1196 | Triple-helical regionAdd BLAST | 1029 | |
Regioni | 1197 – 1205 | Nonhelical 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, SignalPhylogenomic databases
eggNOGi | KOG3544, Eukaryota |
GeneTreei | ENSGT00940000161229 |
HOGENOMi | CLU_001074_2_3_1 |
InParanoidi | P02461 |
OMAi | SPQFESY |
OrthoDBi | 1406711at2759 |
PhylomeDBi | P02461 |
TreeFami | TF344135 |
Family and domain databases
InterProi | View protein in InterPro IPR008160, Collagen IPR000885, Fib_collagen_C IPR001007, VWF_dom |
Pfami | View protein in Pfam PF01410, COLFI, 1 hit PF01391, Collagen, 8 hits PF00093, VWC, 1 hit |
SMARTi | View protein in SMART SM00038, COLFI, 1 hit SM00214, VWC, 1 hit |
PROSITEi | View protein in PROSITE PS51461, NC1_FIB, 1 hit PS01208, VWFC_1, 1 hit PS50184, VWFC_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH7C435 | H7C435_HUMAN | Collagen alpha-1(III) chain | COL3A1 | 90 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 163 | G → GG in CAA33387 (PubMed:2780304).Curated | 1 | |
Sequence conflicti | 168 | G → V AA sequence (PubMed:557335).Curated | 1 | |
Sequence conflicti | 226 – 228 | Missing AA sequence (PubMed:557335).Curated | 3 | |
Sequence conflicti | 241 | E → D in CAA33387 (PubMed:2780304).Curated | 1 | |
Sequence conflicti | 278 | T → A AA sequence (PubMed:557335).Curated | 1 | |
Sequence conflicti | 293 – 295 | NGA → DGS AA sequence (PubMed:557335).Curated | 3 | |
Sequence conflicti | 401 | A → L AA sequence (PubMed:7864881).Curated | 1 | |
Sequence conflicti | 409 | L → P AA sequence (PubMed:7864881).Curated | 1 | |
Sequence conflicti | 472 | E → D in CAA33387 (PubMed:2780304).Curated | 1 | |
Sequence conflicti | 488 – 490 | PGF → LGS in CAA33387 (PubMed:2780304).Curated | 3 | |
Sequence conflicti | 589 | A → E AA sequence (PubMed:7864881).Curated | 1 | |
Sequence conflicti | 614 | T → Y in CAA33387 (PubMed:2780304).Curated | 1 | |
Sequence conflicti | 635 | P → R in CAA33387 (PubMed:2780304).Curated | 1 | |
Sequence conflicti | 664 | D → E in CAA33387 (PubMed:2780304).Curated | 1 | |
Sequence conflicti | 676 | D → N AA sequence (PubMed:687591).Curated | 1 | |
Sequence conflicti | 803 | T → P AA sequence (PubMed:7864881).Curated | 1 | |
Sequence conflicti | 896 | S → A AA sequence (PubMed:6246925).Curated | 1 | |
Sequence conflicti | 980 | S → A AA sequence (PubMed:7016180).Curated | 1 | |
Sequence conflicti | 985 – 989 | ANGLS → PSGQN AA sequence (PubMed:7016180).Curated | 5 | |
Sequence conflicti | 1019 | D → Y in CAA29886 (PubMed:3357782).Curated | 1 | |
Sequence conflicti | 1067 | S → P AA sequence (PubMed:7864881).Curated | 1 | |
Sequence conflicti | 1070 | A → P AA sequence (PubMed:7864881).Curated | 1 | |
Sequence conflicti | 1097 | T → P AA sequence (PubMed:7016180).Curated | 1 | |
Sequence conflicti | 1153 – 1154 | TS → AT AA sequence (PubMed:7016180).Curated | 2 | |
Sequence conflicti | 1156 | H → S AA sequence (PubMed:7016180).Curated | 1 | |
Sequence conflicti | 1184 | P → S in CAA33387 (PubMed:2780304).Curated | 1 | |
Sequence conflicti | 1203 | A → P in CAA33387 (PubMed:2780304).Curated | 1 | |
Sequence conflicti | 1210 | G → A in CAA33387 (PubMed:2780304).Curated | 1 | |
Sequence conflicti | 1222 | D → P in AAA52002 (PubMed:2579949).Curated | 1 | |
Sequence conflicti | 1235 | M → I in AAA52002 (PubMed:2579949).Curated | 1 | |
Sequence conflicti | 1241 | V → A in CAA29886 (PubMed:3357782).Curated | 1 | |
Sequence conflicti | 1241 | V → A in CAA25879 (PubMed:6096827).Curated | 1 | |
Sequence conflicti | 1274 | S → T in AAA52002 (PubMed:2579949).Curated | 1 | |
Sequence conflicti | 1332 | M → I in AAA52002 (PubMed:2579949).Curated | 1 | |
Sequence conflicti | 1357 | L → P in AAA52002 (PubMed:2579949).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_082043 | 49 | P → A in PMGEDSV; does not affect interaction with ADGRG1. 2 PublicationsCorresponds to variant dbSNP:rs1234344050EnsemblClinVar. | 1 | |
Natural variantiVAR_001767 | 169 | L → F. Corresponds to variant dbSNP:rs111391222EnsemblClinVar. | 1 | |
Natural variantiVAR_001768 | 183 | G → C in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs121912926EnsemblClinVar. | 1 | |
Natural variantiVAR_011095 | 183 | G → D in EDSVASC. Corresponds to variant dbSNP:rs587779420EnsemblClinVar. | 1 | |
Natural variantiVAR_011096 | 183 | G → S in EDSVASC. Corresponds to variant dbSNP:rs121912926EnsemblClinVar. | 1 | |
Natural variantiVAR_011097 | 192 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779710EnsemblClinVar. | 1 | |
Natural variantiVAR_001769 | 201 | G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779436EnsemblClinVar. | 1 | |
Natural variantiVAR_011098 | 204 | G → D in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs587779626EnsemblClinVar. | 1 | |
Natural variantiVAR_011099 | 204 | G → S in EDSVASC. Corresponds to variant dbSNP:rs587779711EnsemblClinVar. | 1 | |
Natural variantiVAR_011100 | 210 | G → D in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011101 | 219 | G → C in EDSVASC. Corresponds to variant dbSNP:rs587779624EnsemblClinVar. | 1 | |
Natural variantiVAR_011102 | 225 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779533EnsemblClinVar. | 1 | |
Natural variantiVAR_001770 | 228 | G → E in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779555EnsemblClinVar. | 1 | |
Natural variantiVAR_011103 | 240 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779468EnsemblClinVar. | 1 | |
Natural variantiVAR_011104 | 243 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779629EnsemblClinVar. | 1 | |
Natural variantiVAR_011105 | 249 | G → D in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar. | 1 | |
Natural variantiVAR_011106 | 249 | G → V in EDSVASC. Corresponds to variant dbSNP:rs121912927EnsemblClinVar. | 1 | |
Natural variantiVAR_011107 | 252 | G → D in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar. | 1 | |
Natural variantiVAR_011108 | 252 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779705EnsemblClinVar. | 1 | |
Natural variantiVAR_011109 | 252 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779464EnsemblClinVar. | 1 | |
Natural variantiVAR_011110 | 255 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779605EnsemblClinVar. | 1 | |
Natural variantiVAR_011111 | 264 | G → R in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011112 | 267 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779427EnsemblClinVar. | 1 | |
Natural variantiVAR_037007 | 297 | G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs1553507557EnsemblClinVar. | 1 | |
Natural variantiVAR_001771 | 303 | G → R in EDSVASC. 1 PublicationCorresponds to variant dbSNP:rs121912919EnsemblClinVar. | 1 | |
Natural variantiVAR_011113 | 321 | G → V in EDSVASC. Corresponds to variant dbSNP:rs587779588EnsemblClinVar. | 1 | |
Natural variantiVAR_011114 | 327 | G → D in EDSVASC. 1 Publication | 1 | |
Natural variantiVAR_011115 | 345 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779419EnsemblClinVar. | 1 | |
Natural variantiVAR_011116 | 417 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779637EnsemblClinVar. | 1 | |
Natural variantiVAR_035738 | 420 | G → S in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs587779692EnsemblClinVar. | 1 | |
Natural variantiVAR_082044 | 428 – 1466 | Missing in PMGEDSV. 1 PublicationAdd BLAST | 1039 | |
Natural variantiVAR_011117 | 444 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779489EnsemblClinVar. | 1 | |
Natural variantiVAR_011118 | 489 | G → E in EDSVASC. Corresponds to variant dbSNP:rs587779476EnsemblClinVar. | 1 | |
Natural variantiVAR_011119 | 501 | G → R in EDSVASC. Corresponds to variant dbSNP:rs587779523EnsemblClinVar. | 1 | |
Natural variantiVAR_011120 | 519 | G → V in EDSVASC. | 1 | |
Natural variantiVAR_055665 | 534 | G → E. Corresponds to variant dbSNP:rs41263744Ensembl. | 1 | |
Natural variantiVAR_001772 | 540 | G → R in EDSVASC. 2 PublicationsCorresponds to variant dbSNP:rs587779584Ensembl |