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Protein

Collagen alpha-1(III) chain

Gene

COL3A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • integrin binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • platelet-derived growth factor binding Source: MGI

GO - Biological processi

  • aging Source: Ensembl
  • 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 catabolic process Source: Reactome
  • collagen fibril organization Source: UniProtKB
  • digestive tract development Source: Ensembl
  • extracellular fibril organization Source: UniProtKB
  • extracellular matrix organization Source: Reactome
  • 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
  • transforming growth factor beta receptor signaling pathway Source: UniProtKB
  • wound healing Source: UniProtKB
Complete GO annotation...

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168542-MONOMER.
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.

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

HGNCiHGNC:2201. COL3A1.

Subcellular locationi

GO - Cellular componenti

  • collagen type III trimer Source: UniProtKB
  • endoplasmic reticulum lumen Source: Reactome
  • 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 3 (EDS3)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. It is a form of Ehlers-Danlos syndrome characterized by marked joint hyperextensibility without skeletal deformity.
See also OMIM:130020
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001783804G → S in EDS3. 1 PublicationCorresponds to variant rs121912920dbSNPEnsembl.1
Ehlers-Danlos syndrome 4 (EDS4)26 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe most severe form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Characterized by the joint and dermal manifestations as in other forms of the syndrome, characteristic facial features (acrogeria) in most patients, 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 EDS4. 2 PublicationsCorresponds to variant rs121912926dbSNPEnsembl.1
Natural variantiVAR_011095183G → D in EDS4. Corresponds to variant rs587779420dbSNPEnsembl.1
Natural variantiVAR_011096183G → S in EDS4. Corresponds to variant rs121912926dbSNPEnsembl.1
Natural variantiVAR_011097192G → V in EDS4. Corresponds to variant rs587779710dbSNPEnsembl.1
Natural variantiVAR_001769201G → R in EDS4. 2 PublicationsCorresponds to variant rs587779436dbSNPEnsembl.1
Natural variantiVAR_011098204G → D in EDS4. 1 PublicationCorresponds to variant rs587779626dbSNPEnsembl.1
Natural variantiVAR_011099204G → S in EDS4. Corresponds to variant rs587779711dbSNPEnsembl.1
Natural variantiVAR_011100210G → D in EDS4. 1 Publication1
Natural variantiVAR_011101219G → C in EDS4. Corresponds to variant rs587779624dbSNPEnsembl.1
Natural variantiVAR_011102225G → V in EDS4. Corresponds to variant rs587779533dbSNPEnsembl.1
Natural variantiVAR_001770228G → E in EDS4. 2 PublicationsCorresponds to variant rs587779555dbSNPEnsembl.1
Natural variantiVAR_011103240G → R in EDS4. Corresponds to variant rs587779468dbSNPEnsembl.1
Natural variantiVAR_011104243G → V in EDS4. Corresponds to variant rs587779629dbSNPEnsembl.1
Natural variantiVAR_011105249G → D in EDS4. Corresponds to variant rs121912927dbSNPEnsembl.1
Natural variantiVAR_011106249G → V in EDS4. Corresponds to variant rs121912927dbSNPEnsembl.1
Natural variantiVAR_011107252G → D in EDS4. Corresponds to variant rs587779464dbSNPEnsembl.1
Natural variantiVAR_011108252G → R in EDS4. Corresponds to variant rs587779705dbSNPEnsembl.1
Natural variantiVAR_011109252G → V in EDS4. Corresponds to variant rs587779464dbSNPEnsembl.1
Natural variantiVAR_011110255G → V in EDS4. Corresponds to variant rs587779605dbSNPEnsembl.1
Natural variantiVAR_011111264G → R in EDS4. 1 Publication1
Natural variantiVAR_011112267G → V in EDS4. Corresponds to variant rs587779427dbSNPEnsembl.1
Natural variantiVAR_037007297G → R in EDS4. 1 Publication1
Natural variantiVAR_011113321G → V in EDS4. Corresponds to variant rs587779588dbSNPEnsembl.1
Natural variantiVAR_011114327G → D in EDS4. 1 Publication1
Natural variantiVAR_011115345G → R in EDS4. Corresponds to variant rs587779419dbSNPEnsembl.1
Natural variantiVAR_011116417G → R in EDS4. Corresponds to variant rs587779637dbSNPEnsembl.1
Natural variantiVAR_011117444G → R in EDS4. Corresponds to variant rs587779489dbSNPEnsembl.1
Natural variantiVAR_011118489G → E in EDS4. Corresponds to variant rs587779476dbSNPEnsembl.1
Natural variantiVAR_011119501G → R in EDS4. Corresponds to variant rs587779523dbSNPEnsembl.1
Natural variantiVAR_011120519G → V in EDS4. 1
Natural variantiVAR_001772540G → R in EDS4. 2 PublicationsCorresponds to variant rs587779584dbSNPEnsembl.1
Natural variantiVAR_011121549G → E in EDS4. Corresponds to variant rs587779679dbSNPEnsembl.1
Natural variantiVAR_011122552G → E in EDS4. Corresponds to variant rs121912928dbSNPEnsembl.1
Natural variantiVAR_001773567G → E in EDS4. 1 Publication1
Natural variantiVAR_001774582G → S in EDS4. 1 PublicationCorresponds to variant rs121912923dbSNPEnsembl.1
Natural variantiVAR_011123588G → D in EDS4. Corresponds to variant rs587779691dbSNPEnsembl.1
Natural variantiVAR_011124636G → R in EDS4. Corresponds to variant rs587779522dbSNPEnsembl.1
Natural variantiVAR_011125657G → E in EDS4. Corresponds to variant rs587779699dbSNPEnsembl.1
Natural variantiVAR_011126660G → D in EDS4. Corresponds to variant rs587779493dbSNPEnsembl.1
Natural variantiVAR_001777666G → D in EDS4. 1 PublicationCorresponds to variant rs121912921dbSNPEnsembl.1
Natural variantiVAR_011128699G → R in EDS4. Corresponds to variant rs587779668dbSNPEnsembl.1
Natural variantiVAR_001779726G → R in EDS4. 2 PublicationsCorresponds to variant rs587779638dbSNPEnsembl.1
Natural variantiVAR_011129738G → S in EDS4. Corresponds to variant rs121912925dbSNPEnsembl.1
Natural variantiVAR_011130738G → V in EDS4. Corresponds to variant rs587779615dbSNPEnsembl.1
Natural variantiVAR_011131744G → V in EDS4. Corresponds to variant rs587779697dbSNPEnsembl.1
Natural variantiVAR_001780756G → E in EDS4. 1 Publication1
Natural variantiVAR_001781762G → C in EDS4. 1 Publication1
Natural variantiVAR_001784828G → R in EDS4. 1 Publication1
Natural variantiVAR_011132828G → W in EDS4. Corresponds to variant rs587779486dbSNPEnsembl.1
Natural variantiVAR_037008830 – 838Missing in EDS4. 1 Publication9
Natural variantiVAR_011133852G → C in EDS4. Corresponds to variant rs587779690dbSNPEnsembl.1
Natural variantiVAR_011134879G → V in EDS4. Corresponds to variant rs587779645dbSNPEnsembl.1
Natural variantiVAR_011135882G → D in EDS4. Corresponds to variant rs587779622dbSNPEnsembl.1
Natural variantiVAR_011136900G → D in EDS4. Corresponds to variant rs587779599dbSNPEnsembl.1
Natural variantiVAR_011137903G → E in EDS4. Corresponds to variant rs587779505dbSNPEnsembl.1
Natural variantiVAR_001785909G → D in EDS4. 1 Publication1
Natural variantiVAR_011138909G → V in EDS4. Corresponds to variant rs587779483dbSNPEnsembl.1
Natural variantiVAR_011139918G → E in EDS4. Corresponds to variant rs587779662dbSNPEnsembl.1
Natural variantiVAR_011140924G → C in EDS4. Corresponds to variant rs587779471dbSNPEnsembl.1
Natural variantiVAR_001786936G → R in EDS4. 2 PublicationsCorresponds to variant rs587779566dbSNPEnsembl.1
Natural variantiVAR_001787936G → S in EDS4. 1
Natural variantiVAR_001788939G → D in EDS4. 1 PublicationCorresponds to variant rs112978464dbSNPEnsembl.1
Natural variantiVAR_011141942G → E in EDS4. Corresponds to variant rs587779517dbSNPEnsembl.1
Natural variantiVAR_001789957G → S in EDS4; severe variant. 1 PublicationCorresponds to variant rs121912913dbSNPEnsembl.1
Natural variantiVAR_001790960G → V in EDS4; severe variant. 1 PublicationCorresponds to variant rs121912922dbSNPEnsembl.1
Natural variantiVAR_011142966G → V in EDS4. Corresponds to variant rs587779571dbSNPEnsembl.1
Natural variantiVAR_011143972G → A in EDS4. Corresponds to variant rs587779559dbSNPEnsembl.1
Natural variantiVAR_011144984G → T in EDS4; requires 2 nucleotide substitutions. 1
Natural variantiVAR_001791996G → E in EDS4. 1 PublicationCorresponds to variant rs587779576dbSNPEnsembl.1
Natural variantiVAR_011145999G → R in EDS4. Corresponds to variant rs587779548dbSNPEnsembl.1
Natural variantiVAR_0111461011G → E in EDS4. Corresponds to variant rs587779552dbSNPEnsembl.1
Natural variantiVAR_0017921014G → E in EDS4. 1 PublicationCorresponds to variant rs121912916dbSNPEnsembl.1
Natural variantiVAR_0111471032G → V in EDS4. Corresponds to variant rs587779428dbSNPEnsembl.1
Natural variantiVAR_0111481035G → C in EDS4. Corresponds to variant rs587779704dbSNPEnsembl.1
Natural variantiVAR_0111491044G → D in EDS4. 1 Publication1
Natural variantiVAR_0017931050G → D in EDS4; mild variant. 1 PublicationCorresponds to variant rs121912914dbSNPEnsembl.1
Natural variantiVAR_0111501050G → V in EDS4. 1 PublicationCorresponds to variant rs121912914dbSNPEnsembl.1
Natural variantiVAR_0017941071G → V in EDS4. 1 PublicationCorresponds to variant rs587779709dbSNPEnsembl.1
Natural variantiVAR_0017951077G → V in EDS4. 1 PublicationCorresponds to variant rs121912915dbSNPEnsembl.1
Natural variantiVAR_0111511089G → D in EDS4. Corresponds to variant rs587779672dbSNPEnsembl.1
Natural variantiVAR_0111521098G → D in EDS4. 1 Publication1
Natural variantiVAR_0111531098G → V in EDS4. Corresponds to variant rs587779614dbSNPEnsembl.1
Natural variantiVAR_0017961101G → E in EDS4. 1 PublicationCorresponds to variant rs121912924dbSNPEnsembl.1
Natural variantiVAR_0017971104G → A in EDS4. 1 Publication1
Natural variantiVAR_0111541161G → V in EDS4. Corresponds to variant rs587779473dbSNPEnsembl.1
Natural variantiVAR_0111551164G → E in EDS4. Corresponds to variant rs587779431dbSNPEnsembl.1
Natural variantiVAR_0111561164G → R in EDS4. Corresponds to variant rs587779553dbSNPEnsembl.1
Natural variantiVAR_0017991167G → V in EDS4. 1 PublicationCorresponds to variant rs587779578dbSNPEnsembl.1
Natural variantiVAR_0018001170G → D in EDS4. 2 PublicationsCorresponds to variant rs587779465dbSNPEnsembl.1
Natural variantiVAR_0111571170G → V in EDS4. Corresponds to variant rs587779465dbSNPEnsembl.1
Natural variantiVAR_0018011173G → E in EDS4. 3 PublicationsCorresponds to variant rs121912918dbSNPEnsembl.1
Natural variantiVAR_0111581173G → R in EDS4; Gottron type acrogeria. 1 PublicationCorresponds to variant rs587779521dbSNPEnsembl.1
Natural variantiVAR_0018021176G → V in EDS4; severe. 1 Publication1
Natural variantiVAR_0111591179G → R in EDS4. Corresponds to variant rs587779574dbSNPEnsembl.1
Natural variantiVAR_0018031182G → E in EDS4. 1 PublicationCorresponds to variant rs111505097dbSNPEnsembl.1
Natural variantiVAR_0018041185G → D in EDS4; severe variant. 1 PublicationCorresponds to variant rs121912917dbSNPEnsembl.1
Natural variantiVAR_0018051185G → V in EDS4. 1 PublicationCorresponds to variant rs121912917dbSNPEnsembl.1
Natural variantiVAR_0018061188G → E in EDS4; severe variant. 2 PublicationsCorresponds to variant rs112456072dbSNPEnsembl.1
Natural variantiVAR_0018071188G → R in EDS4. 1 PublicationCorresponds to variant rs587779504dbSNPEnsembl.1
Aortic aneurysm, familial abdominal (AAA)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionA common multifactorial disorder characterized by permanent dilation of the abdominal aorta, usually due to degenerative changes in the aortic wall. Histologically, AAA is characterized by signs of chronic inflammation, destructive remodeling of the extracellular matrix, and depletion of vascular smooth muscle cells.
See also OMIM:100070
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001767169L → F in AAA. Corresponds to variant rs111391222dbSNPEnsembl.1
Natural variantiVAR_001782786G → R in AAA. 2 PublicationsCorresponds to variant rs113485686dbSNPEnsembl.1

Keywords - Diseasei

Aortic aneurysm, Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

DisGeNETi1281.
MalaCardsiCOL3A1.
MIMi100070. phenotype.
130020. phenotype.
130050. 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 residuei2635-hydroxylysine; alternate1
Glycosylationi263O-linked (Gal...); alternate1
Modified residuei2845-hydroxylysine1
Modified residuei8605-hydroxylysine1
Modified residuei9775-hydroxylysine1
Modified residuei10945-hydroxylysine; partial1
Modified residuei11065-hydroxylysine1
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

PaxDbiP02461.
PeptideAtlasiP02461.
PRIDEiP02461.

PTM databases

iPTMnetiP02461.
PhosphoSitePlusiP02461.

Expressioni

Gene expression databases

BgeeiENSG00000168542.
ExpressionAtlasiP02461. baseline and differential.
GenevisibleiP02461. HS.

Organism-specific databases

HPAiCAB016766.
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

WithEntry#Exp.IntActNotes
AAEL010235O019492EBI-2431491,EBI-7685554From a different organism.

GO - Molecular functioni

  • integrin binding Source: UniProtKB
  • platelet-derived growth factor binding Source: MGI

Protein-protein interaction databases

BioGridi107678. 9 interactors.
DIPiDIP-57177N.
IntActiP02461. 21 interactors.
MINTiMINT-7299332.
STRINGi9606.ENSP00000304408.

Structurei

Secondary structure

11466
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi1236 – 1249Combined sources14
Beta strandi1253 – 1257Combined sources5
Helixi1262 – 1268Combined sources7
Beta strandi1274 – 1279Combined sources6
Helixi1286 – 1288Combined sources3
Beta strandi1290 – 1295Combined sources6
Turni1296 – 1299Combined sources4
Beta strandi1300 – 1303Combined sources4
Beta strandi1305 – 1307Combined sources3
Beta strandi1309 – 1313Combined sources5
Beta strandi1320 – 1322Combined sources3
Helixi1328 – 1331Combined sources4
Beta strandi1339 – 1341Combined sources3
Beta strandi1343 – 1345Combined sources3
Helixi1347 – 1360Combined sources14
Beta strandi1364 – 1374Combined sources11
Turni1381 – 1384Combined sources4
Beta strandi1391 – 1393Combined sources3
Beta strandi1395 – 1397Combined sources3
Beta strandi1399 – 1404Combined sources6
Helixi1406 – 1408Combined sources3
Beta strandi1411 – 1415Combined sources5
Beta strandi1422 – 1434Combined sources13
Helixi1436 – 1438Combined sources3
Beta strandi1443 – 1445Combined sources3
Beta strandi1455 – 1465Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2V53X-ray3.20B/C/D564-584[»]
3DMWX-ray2.30A/B/C1158-1199[»]
4AE2X-ray1.68A/B/C1222-1466[»]
4AEJX-ray2.21A/B/C1222-1466[»]
4AK3X-ray3.50A1222-1466[»]
4GYXX-ray1.49A/B/C1158-1200[»]
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
Contains 1 fibrillar collagen NC1 domain.PROSITE-ProRule annotation
Contains 1 VWFC domain.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129673.
HOVERGENiHBG004933.
InParanoidiP02461.
KOiK19720.
OMAiAEKKHVW.
OrthoDBiEOG091G03LV.
PhylomeDBiP02461.
TreeFamiTF344135.

Family and domain databases

InterProiIPR008160. Collagen.
IPR000885. Fib_collagen_C.
IPR001007. VWF_dom.
[Graphical view]
PfamiPF01410. COLFI. 1 hit.
PF01391. Collagen. 8 hits.
PF00093. VWC. 1 hit.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
SM00214. VWC. 1 hit.
[Graphical view]
PROSITEiPS51461. NC1_FIB. 1 hit.
PS01208. VWFC_1. 1 hit.
PS50184. VWFC_2. 1 hit.
[Graphical view]

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

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

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 in AAA. Corresponds to variant rs111391222dbSNPEnsembl.1
Natural variantiVAR_001768183G → C in EDS4. 2 PublicationsCorresponds to variant rs121912926dbSNPEnsembl.1
Natural variantiVAR_011095183G → D in EDS4. Corresponds to variant rs587779420dbSNPEnsembl.1
Natural variantiVAR_011096183G → S in EDS4. Corresponds to variant rs121912926dbSNPEnsembl.1
Natural variantiVAR_011097192G → V in EDS4. Corresponds to variant rs587779710dbSNPEnsembl.1
Natural variantiVAR_001769201G → R in EDS4. 2 PublicationsCorresponds to variant rs587779436dbSNPEnsembl.1
Natural variantiVAR_011098204G → D in EDS4. 1 PublicationCorresponds to variant rs587779626dbSNPEnsembl.1
Natural variantiVAR_011099204G → S in EDS4. Corresponds to variant rs587779711dbSNPEnsembl.1
Natural variantiVAR_011100210G → D in EDS4. 1 Publication1
Natural variantiVAR_011101219G → C in EDS4. Corresponds to variant rs587779624dbSNPEnsembl.1
Natural variantiVAR_011102225G → V in EDS4. Corresponds to variant rs587779533dbSNPEnsembl.1
Natural variantiVAR_001770228G → E in EDS4. 2 PublicationsCorresponds to variant rs587779555dbSNPEnsembl.1
Natural variantiVAR_011103240G → R in EDS4. Corresponds to variant rs587779468dbSNPEnsembl.1
Natural variantiVAR_011104243G → V in EDS4. Corresponds to variant rs587779629dbSNPEnsembl.1
Natural variantiVAR_011105249G → D in EDS4. Corresponds to variant rs121912927dbSNPEnsembl.1
Natural variantiVAR_011106249G → V in EDS4. Corresponds to variant rs121912927dbSNPEnsembl.1
Natural variantiVAR_011107252G → D in EDS4. Corresponds to variant rs587779464dbSNPEnsembl.1
Natural variantiVAR_011108252G → R in EDS4. Corresponds to variant rs587779705dbSNPEnsembl.1
Natural variantiVAR_011109252G → V in EDS4. Corresponds to variant rs587779464dbSNPEnsembl.1
Natural variantiVAR_011110255G → V in EDS4. Corresponds to variant rs587779605dbSNPEnsembl.1
Natural variantiVAR_011111264G → R in EDS4. 1 Publication1
Natural variantiVAR_011112267G → V in EDS4. Corresponds to variant rs587779427dbSNPEnsembl.1
Natural variantiVAR_037007297G → R in EDS4. 1 Publication1
Natural variantiVAR_001771303G → R in fibromuscular dysplasia and aortic aneurysm. 1 PublicationCorresponds to variant rs121912919dbSNPEnsembl.1
Natural variantiVAR_011113321G → V in EDS4. Corresponds to variant rs587779588dbSNPEnsembl.1
Natural variantiVAR_011114327G → D in EDS4. 1 Publication1
Natural variantiVAR_011115345G → R in EDS4. Corresponds to variant rs587779419dbSNPEnsembl.1
Natural variantiVAR_011116417G → R in EDS4. Corresponds to variant rs587779637dbSNPEnsembl.1
Natural variantiVAR_035738420G → S in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs587779692dbSNPEnsembl.1
Natural variantiVAR_011117444G → R in EDS4. Corresponds to variant rs587779489dbSNPEnsembl.1
Natural variantiVAR_011118489G → E in EDS4. Corresponds to variant rs587779476dbSNPEnsembl.1
Natural variantiVAR_011119501G → R in EDS4. Corresponds to variant rs587779523dbSNPEnsembl.1
Natural variantiVAR_011120519G → V in EDS4. 1
Natural variantiVAR_055665534G → E.Corresponds to variant rs41263744dbSNPEnsembl.1
Natural variantiVAR_001772540G → R in EDS4. 2 PublicationsCorresponds to variant rs587779584dbSNPEnsembl.1
Natural variantiVAR_011121549G → E in EDS4. Corresponds to variant rs587779679dbSNPEnsembl.1
Natural variantiVAR_011122552G → E in EDS4. Corresponds to variant rs121912928dbSNPEnsembl.1
Natural variantiVAR_001773567G → E in EDS4. 1 Publication1
Natural variantiVAR_001774582G → S in EDS4. 1 PublicationCorresponds to variant rs121912923dbSNPEnsembl.1
Natural variantiVAR_011123588G → D in EDS4. Corresponds to variant rs587779691dbSNPEnsembl.1
Natural variantiVAR_001775602P → T.1 PublicationCorresponds to variant rs35795890dbSNPEnsembl.1
Natural variantiVAR_001776635P → L.1 Publication1
Natural variantiVAR_011124636G → R in EDS4. Corresponds to variant rs587779522dbSNPEnsembl.1
Natural variantiVAR_011125657G → E in EDS4. Corresponds to variant rs587779699dbSNPEnsembl.1
Natural variantiVAR_011126660G → D in EDS4. Corresponds to variant rs587779493dbSNPEnsembl.1
Natural variantiVAR_001777666G → D in EDS4. 1 PublicationCorresponds to variant rs121912921dbSNPEnsembl.1
Natural variantiVAR_011127668P → T.1 PublicationCorresponds to variant rs1801183dbSNPEnsembl.1
Natural variantiVAR_055666679A → T.1 PublicationCorresponds to variant rs41263773dbSNPEnsembl.1
Natural variantiVAR_055667686P → A.Corresponds to variant rs41263775dbSNPEnsembl.1
Natural variantiVAR_001778698A → T.2 PublicationsCorresponds to variant rs1800255dbSNPEnsembl.1
Natural variantiVAR_011128699G → R in EDS4. Corresponds to variant rs587779668dbSNPEnsembl.1
Natural variantiVAR_001779726G → R in EDS4. 2 PublicationsCorresponds to variant rs587779638dbSNPEnsembl.1
Natural variantiVAR_011129738G → S in EDS4. Corresponds to variant rs121912925dbSNPEnsembl.1
Natural variantiVAR_011130738G → V in EDS4. Corresponds to variant rs587779615dbSNPEnsembl.1
Natural variantiVAR_011131744G → V in EDS4. Corresponds to variant rs587779697dbSNPEnsembl.1
Natural variantiVAR_001780756G → E in EDS4. 1 Publication1
Natural variantiVAR_001781762G → C in EDS4. 1 Publication1
Natural variantiVAR_001782786G → R in AAA. 2 PublicationsCorresponds to variant rs113485686dbSNPEnsembl.1
Natural variantiVAR_001783804G → S in EDS3. 1 PublicationCorresponds to variant rs121912920dbSNPEnsembl.1
Natural variantiVAR_001784828G → R in EDS4. 1 Publication1
Natural variantiVAR_011132828G → W in EDS4. Corresponds to variant rs587779486dbSNPEnsembl.1
Natural variantiVAR_037008830 – 838Missing in EDS4. 1 Publication9
Natural variantiVAR_011133852G → C in EDS4. Corresponds to variant rs587779690dbSNPEnsembl.1
Natural variantiVAR_011134879G → V in EDS4. Corresponds to variant rs587779645dbSNPEnsembl.1
Natural variantiVAR_011135882G → D in EDS4. Corresponds to variant rs587779622dbSNPEnsembl.1
Natural variantiVAR_011136900G → D in EDS4. Corresponds to variant rs587779599dbSNPEnsembl.1
Natural variantiVAR_011137903G → E in EDS4. Corresponds to variant rs587779505dbSNPEnsembl.1
Natural variantiVAR_001785909G → D in EDS4. 1 Publication1
Natural variantiVAR_011138909G → V in EDS4. Corresponds to variant rs587779483dbSNPEnsembl.1
Natural variantiVAR_011139918G → E in EDS4. Corresponds to variant rs587779662dbSNPEnsembl.1
Natural variantiVAR_011140924G → C in EDS4. Corresponds to variant rs587779471dbSNPEnsembl.1
Natural variantiVAR_001786936G → R in EDS4. 2 PublicationsCorresponds to variant rs587779566dbSNPEnsembl.1
Natural variantiVAR_001787936G → S in EDS4. 1
Natural variantiVAR_001788939G → D in EDS4. 1 PublicationCorresponds to variant rs112978464dbSNPEnsembl.1
Natural variantiVAR_011141942G → E in EDS4. Corresponds to variant rs587779517dbSNPEnsembl.1
Natural variantiVAR_001789957G → S in EDS4; severe variant. 1 PublicationCorresponds to variant rs121912913dbSNPEnsembl.1
Natural variantiVAR_001790960G → V in EDS4; severe variant. 1 PublicationCorresponds to variant rs121912922dbSNPEnsembl.1
Natural variantiVAR_011142966G → V in EDS4. Corresponds to variant rs587779571dbSNPEnsembl.1
Natural variantiVAR_011143972G → A in EDS4. Corresponds to variant rs587779559dbSNPEnsembl.1
Natural variantiVAR_011144984G → T in EDS4; requires 2 nucleotide substitutions. 1
Natural variantiVAR_001791996G → E in EDS4. 1 PublicationCorresponds to variant rs587779576dbSNPEnsembl.1
Natural variantiVAR_011145999G → R in EDS4. Corresponds to variant rs587779548dbSNPEnsembl.1
Natural variantiVAR_0111461011G → E in EDS4. Corresponds to variant rs587779552dbSNPEnsembl.1
Natural variantiVAR_0017921014G → E in EDS4. 1 PublicationCorresponds to variant rs121912916dbSNPEnsembl.1
Natural variantiVAR_0111471032G → V in EDS4. Corresponds to variant rs587779428dbSNPEnsembl.1
Natural variantiVAR_0111481035G → C in EDS4. Corresponds to variant rs587779704dbSNPEnsembl.1
Natural variantiVAR_0111491044G → D in EDS4. 1 Publication1
Natural variantiVAR_0017931050G → D in EDS4; mild variant. 1 PublicationCorresponds to variant rs121912914dbSNPEnsembl.1
Natural variantiVAR_0111501050G → V in EDS4. 1 PublicationCorresponds to variant rs121912914dbSNPEnsembl.1
Natural variantiVAR_0017941071G → V in EDS4. 1 PublicationCorresponds to variant rs587779709dbSNPEnsembl.1
Natural variantiVAR_0017951077G → V in EDS4. 1 PublicationCorresponds to variant rs121912915dbSNPEnsembl.1
Natural variantiVAR_0111511089G → D in EDS4. Corresponds to variant rs587779672dbSNPEnsembl.1
Natural variantiVAR_0111521098G → D in EDS4. 1 Publication1
Natural variantiVAR_0111531098G → V in EDS4. Corresponds to variant rs587779614dbSNPEnsembl.1
Natural variantiVAR_0017961101G → E in EDS4. 1 PublicationCorresponds to variant rs121912924dbSNPEnsembl.1
Natural variantiVAR_0017971104G → A in EDS4. 1 Publication1
Natural variantiVAR_0111541161G → V in EDS4. Corresponds to variant rs587779473dbSNPEnsembl.1
Natural variantiVAR_0111551164G → E in EDS4. Corresponds to variant rs587779431dbSNPEnsembl.1
Natural variantiVAR_0111561164G → R in EDS4. Corresponds to variant rs587779553dbSNPEnsembl.1
Natural variantiVAR_0017981164G → S in spondyloepiphyseal dysplasia. 1
Natural variantiVAR_0017991167G → V in EDS4. 1 PublicationCorresponds to variant rs587779578dbSNPEnsembl.1
Natural variantiVAR_0018001170G → D in EDS4. 2 PublicationsCorresponds to variant rs587779465dbSNPEnsembl.1
Natural variantiVAR_0111571170G → V in EDS4. Corresponds to variant rs587779465dbSNPEnsembl.1
Natural variantiVAR_0018011173G → E in EDS4. 3 PublicationsCorresponds to variant rs121912918dbSNPEnsembl.1
Natural variantiVAR_0111581173G → R in EDS4; Gottron type acrogeria. 1 PublicationCorresponds to variant rs587779521dbSNPEnsembl.1
Natural variantiVAR_0018021176G → V in EDS4; severe. 1 Publication1
Natural variantiVAR_0111591179G → R in EDS4. Corresponds to variant rs587779574dbSNPEnsembl.1
Natural variantiVAR_0018031182G → E in EDS4. 1 PublicationCorresponds to variant rs111505097dbSNPEnsembl.1
Natural variantiVAR_0018041185G → D in EDS4; severe variant. 1 PublicationCorresponds to variant rs121912917dbSNPEnsembl.1
Natural variantiVAR_0018051185G → V in EDS4. 1 PublicationCorresponds to variant rs121912917dbSNPEnsembl.1
Natural variantiVAR_0018061188G → E in EDS4; severe variant. 2 PublicationsCorresponds to variant rs112456072dbSNPEnsembl.1
Natural variantiVAR_0018071188G → R in EDS4. 1 PublicationCorresponds to variant rs587779504dbSNPEnsembl.1
Natural variantiVAR_0200121205I → V.1 PublicationCorresponds to variant rs2271683dbSNPEnsembl.1
Natural variantiVAR_0301151353H → Q.7 PublicationsCorresponds to variant rs1516446dbSNPEnsembl.1
Natural variantiVAR_0357391434R → C in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant rs747324731dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022502847 – 1149Missing in isoform 2. 1 PublicationAdd BLAST303

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X14420 mRNA. Translation: CAA32583.1.
AY054301, AY016295 Genomic DNA. Translation: AAL13167.1.
KC567894 Genomic DNA. Translation: AGL34959.1.
GU143397 Genomic DNA. Translation: ACZ58371.1.
AC066694 Genomic DNA. Translation: AAY24164.1.
CH471058 Genomic DNA. Translation: EAX10910.1.
CH471058 Genomic DNA. Translation: EAX10911.1.
BC028178 mRNA. Translation: AAH28178.1.
M26939 Genomic DNA. Translation: AAA52040.1.
X07240 mRNA. Translation: CAA30229.1.
X15332 mRNA. Translation: CAA33387.1.
S62925 Genomic DNA. Translation: AAD13937.1.
S79877 mRNA. Translation: AAB35615.1.
M59312 Genomic DNA. Translation: AAA52041.1.
M59227 mRNA. Translation: AAB59383.1.
M55603 Genomic DNA. No translation available.
X06700 mRNA. Translation: CAA29886.1.
X01655 mRNA. Translation: CAA25821.1.
X01742 mRNA. Translation: CAA25879.1.
M13146 mRNA. Translation: AAA52003.1.
M11134 mRNA. Translation: AAA52004.1.
M10795
, M10615, M10793, M10794, M10800, M10801 Genomic DNA. Translation: AAA52002.1.
CCDSiCCDS2297.1. [P02461-1]
PIRiS05272. CGHU7L.
RefSeqiNP_000081.1. NM_000090.3.
UniGeneiHs.443625.

Genome annotation databases

EnsembliENST00000304636; ENSP00000304408; ENSG00000168542. [P02461-1]
ENST00000317840; ENSP00000315243; ENSG00000168542. [P02461-2]
GeneIDi1281.
KEGGihsa:1281.
UCSCiuc002uqj.2. human. [P02461-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

COL3A1

Collagen type III alpha-1 chain mutations

Wikipedia

Type-III collagen entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X14420 mRNA. Translation: CAA32583.1.
AY054301, AY016295 Genomic DNA. Translation: AAL13167.1.
KC567894 Genomic DNA. Translation: AGL34959.1.
GU143397 Genomic DNA. Translation: ACZ58371.1.
AC066694 Genomic DNA. Translation: AAY24164.1.
CH471058 Genomic DNA. Translation: EAX10910.1.
CH471058 Genomic DNA. Translation: EAX10911.1.
BC028178 mRNA. Translation: AAH28178.1.
M26939 Genomic DNA. Translation: AAA52040.1.
X07240 mRNA. Translation: CAA30229.1.
X15332 mRNA. Translation: CAA33387.1.
S62925 Genomic DNA. Translation: AAD13937.1.
S79877 mRNA. Translation: AAB35615.1.
M59312 Genomic DNA. Translation: AAA52041.1.
M59227 mRNA. Translation: AAB59383.1.
M55603 Genomic DNA. No translation available.
X06700 mRNA. Translation: CAA29886.1.
X01655 mRNA. Translation: CAA25821.1.
X01742 mRNA. Translation: CAA25879.1.
M13146 mRNA. Translation: AAA52003.1.
M11134 mRNA. Translation: AAA52004.1.
M10795
, M10615, M10793, M10794, M10800, M10801 Genomic DNA. Translation: AAA52002.1.
CCDSiCCDS2297.1. [P02461-1]
PIRiS05272. CGHU7L.
RefSeqiNP_000081.1. NM_000090.3.
UniGeneiHs.443625.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2V53X-ray3.20B/C/D564-584[»]
3DMWX-ray2.30A/B/C1158-1199[»]
4AE2X-ray1.68A/B/C1222-1466[»]
4AEJX-ray2.21A/B/C1222-1466[»]
4AK3X-ray3.50A1222-1466[»]
4GYXX-ray1.49A/B/C1158-1200[»]
ProteinModelPortaliP02461.
SMRiP02461.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107678. 9 interactors.
DIPiDIP-57177N.
IntActiP02461. 21 interactors.
MINTiMINT-7299332.
STRINGi9606.ENSP00000304408.

Chemistry databases

ChEMBLiCHEMBL2364188.
DrugBankiDB00048. Collagenase clostridium histolyticum.

PTM databases

iPTMnetiP02461.
PhosphoSitePlusiP02461.

Polymorphism and mutation databases

BioMutaiCOL3A1.
DMDMi124056490.

Proteomic databases

PaxDbiP02461.
PeptideAtlasiP02461.
PRIDEiP02461.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000304636; ENSP00000304408; ENSG00000168542. [P02461-1]
ENST00000317840; ENSP00000315243; ENSG00000168542. [P02461-2]
GeneIDi1281.
KEGGihsa:1281.
UCSCiuc002uqj.2. human. [P02461-1]

Organism-specific databases

CTDi1281.
DisGeNETi1281.
GeneCardsiCOL3A1.
GeneReviewsiCOL3A1.
HGNCiHGNC:2201. COL3A1.
HPAiCAB016766.
HPA007583.
MalaCardsiCOL3A1.
MIMi100070. phenotype.
120180. gene.
130020. phenotype.
130050. phenotype.
neXtProtiNX_P02461.
OpenTargetsiENSG00000168542.
Orphaneti2500. Acrogeria.
286. Ehlers-Danlos syndrome, vascular type.
86. Familial abdominal aortic aneurysm.
231160. Familial cerebral saccular aneurysm.
PharmGKBiPA26716.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3544. Eukaryota.
ENOG410XNMM. LUCA.
GeneTreeiENSGT00840000129673.
HOVERGENiHBG004933.
InParanoidiP02461.
KOiK19720.
OMAiAEKKHVW.
OrthoDBiEOG091G03LV.
PhylomeDBiP02461.
TreeFamiTF344135.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000168542-MONOMER.
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.

Miscellaneous databases

ChiTaRSiCOL3A1. human.
EvolutionaryTraceiP02461.
GeneWikiiCollagen,_type_III,_alpha_1.
GenomeRNAii1281.
PROiP02461.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168542.
ExpressionAtlasiP02461. baseline and differential.
GenevisibleiP02461. HS.

Family and domain databases

InterProiIPR008160. Collagen.
IPR000885. Fib_collagen_C.
IPR001007. VWF_dom.
[Graphical view]
PfamiPF01410. COLFI. 1 hit.
PF01391. Collagen. 8 hits.
PF00093. VWC. 1 hit.
[Graphical view]
ProDomiPD002078. Fib_collagen_C. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTiSM00038. COLFI. 1 hit.
SM00214. VWC. 1 hit.
[Graphical view]
PROSITEiPS51461. NC1_FIB. 1 hit.
PS01208. VWFC_1. 1 hit.
PS50184. VWFC_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCO3A1_HUMAN
AccessioniPrimary (citable) accession number: P02461
Secondary accession number(s): D2JYH5
, D3DPH4, P78429, Q15112, Q16403, Q53S91, Q541P8, Q6LDB3, Q6LDJ2, Q6LDJ3, Q7KZ56, Q8N6U4, Q9UC88, Q9UC89, Q9UC90, Q9UC91, R4N3C5, V9GZI1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 192 of the entry and version 4 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 2
    Human chromosome 2: 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.