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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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi1280 – 12801Calcium
Metal bindingi1282 – 12821Calcium
Metal bindingi1283 – 12831Calcium; via carbonyl oxygen
Metal bindingi1285 – 12851Calcium; via carbonyl oxygen
Metal bindingi1288 – 12881Calcium

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

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.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti804 – 8041G → S in EDS3. 1 Publication
VAR_001783
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831G → C in EDS4. 2 Publications
VAR_001768
Natural varianti183 – 1831G → D in EDS4.
VAR_011095
Natural varianti183 – 1831G → S in EDS4.
VAR_011096
Natural varianti192 – 1921G → V in EDS4.
VAR_011097
Natural varianti201 – 2011G → R in EDS4. 2 Publications
VAR_001769
Natural varianti204 – 2041G → D in EDS4. 1 Publication
VAR_011098
Natural varianti204 – 2041G → S in EDS4.
VAR_011099
Natural varianti210 – 2101G → D in EDS4. 1 Publication
VAR_011100
Natural varianti219 – 2191G → C in EDS4.
VAR_011101
Natural varianti225 – 2251G → V in EDS4.
VAR_011102
Natural varianti228 – 2281G → E in EDS4. 2 Publications
VAR_001770
Natural varianti240 – 2401G → R in EDS4.
VAR_011103
Natural varianti243 – 2431G → V in EDS4.
VAR_011104
Natural varianti249 – 2491G → D in EDS4.
VAR_011105
Natural varianti249 – 2491G → V in EDS4.
VAR_011106
Natural varianti252 – 2521G → D in EDS4.
VAR_011107
Natural varianti252 – 2521G → R in EDS4.
VAR_011108
Natural varianti252 – 2521G → V in EDS4.
VAR_011109
Natural varianti255 – 2551G → V in EDS4.
VAR_011110
Natural varianti264 – 2641G → R in EDS4. 1 Publication
VAR_011111
Natural varianti267 – 2671G → V in EDS4.
VAR_011112
Natural varianti297 – 2971G → R in EDS4. 1 Publication
VAR_037007
Natural varianti321 – 3211G → V in EDS4.
VAR_011113
Natural varianti327 – 3271G → D in EDS4. 1 Publication
VAR_011114
Natural varianti345 – 3451G → R in EDS4.
VAR_011115
Natural varianti417 – 4171G → R in EDS4.
VAR_011116
Natural varianti444 – 4441G → R in EDS4.
VAR_011117
Natural varianti489 – 4891G → E in EDS4.
VAR_011118
Natural varianti501 – 5011G → R in EDS4.
VAR_011119
Natural varianti519 – 5191G → V in EDS4.
VAR_011120
Natural varianti540 – 5401G → R in EDS4. 2 Publications
VAR_001772
Natural varianti549 – 5491G → E in EDS4.
VAR_011121
Natural varianti552 – 5521G → E in EDS4.
VAR_011122
Natural varianti567 – 5671G → E in EDS4. 1 Publication
VAR_001773
Natural varianti582 – 5821G → S in EDS4. 1 Publication
VAR_001774
Natural varianti588 – 5881G → D in EDS4.
VAR_011123
Natural varianti636 – 6361G → R in EDS4.
VAR_011124
Natural varianti657 – 6571G → E in EDS4.
VAR_011125
Natural varianti660 – 6601G → D in EDS4.
VAR_011126
Natural varianti666 – 6661G → D in EDS4. 1 Publication
VAR_001777
Natural varianti699 – 6991G → R in EDS4.
VAR_011128
Natural varianti726 – 7261G → R in EDS4. 2 Publications
VAR_001779
Natural varianti738 – 7381G → S in EDS4.
VAR_011129
Natural varianti738 – 7381G → V in EDS4.
VAR_011130
Natural varianti744 – 7441G → V in EDS4.
VAR_011131
Natural varianti756 – 7561G → E in EDS4. 1 Publication
VAR_001780
Natural varianti762 – 7621G → C in EDS4. 1 Publication
VAR_001781
Natural varianti828 – 8281G → R in EDS4. 1 Publication
VAR_001784
Natural varianti828 – 8281G → W in EDS4.
VAR_011132
Natural varianti830 – 8389Missing in EDS4. 1 Publication
VAR_037008
Natural varianti852 – 8521G → C in EDS4.
VAR_011133
Natural varianti879 – 8791G → V in EDS4.
VAR_011134
Natural varianti882 – 8821G → D in EDS4.
VAR_011135
Natural varianti900 – 9001G → D in EDS4.
VAR_011136
Natural varianti903 – 9031G → E in EDS4.
VAR_011137
Natural varianti909 – 9091G → D in EDS4. 1 Publication
VAR_001785
Natural varianti909 – 9091G → V in EDS4.
VAR_011138
Natural varianti918 – 9181G → E in EDS4.
VAR_011139
Natural varianti924 – 9241G → C in EDS4.
VAR_011140
Natural varianti936 – 9361G → R in EDS4. 2 Publications
VAR_001786
Natural varianti936 – 9361G → S in EDS4.
VAR_001787
Natural varianti939 – 9391G → D in EDS4. 1 Publication
VAR_001788
Natural varianti942 – 9421G → E in EDS4.
VAR_011141
Natural varianti957 – 9571G → S in EDS4; severe variant. 1 Publication
VAR_001789
Natural varianti960 – 9601G → V in EDS4; severe variant. 1 Publication
VAR_001790
Natural varianti966 – 9661G → V in EDS4.
VAR_011142
Natural varianti972 – 9721G → A in EDS4.
VAR_011143
Natural varianti984 – 9841G → T in EDS4; requires 2 nucleotide substitutions.
VAR_011144
Natural varianti996 – 9961G → E in EDS4. 1 Publication
VAR_001791
Natural varianti999 – 9991G → R in EDS4.
VAR_011145
Natural varianti1011 – 10111G → E in EDS4.
VAR_011146
Natural varianti1014 – 10141G → E in EDS4. 1 Publication
VAR_001792
Natural varianti1032 – 10321G → V in EDS4.
VAR_011147
Natural varianti1035 – 10351G → C in EDS4.
VAR_011148
Natural varianti1044 – 10441G → D in EDS4. 1 Publication
VAR_011149
Natural varianti1050 – 10501G → D in EDS4; mild variant. 1 Publication
VAR_001793
Natural varianti1050 – 10501G → V in EDS4. 1 Publication
VAR_011150
Natural varianti1071 – 10711G → V in EDS4. 1 Publication
VAR_001794
Natural varianti1077 – 10771G → V in EDS4. 1 Publication
VAR_001795
Natural varianti1089 – 10891G → D in EDS4.
VAR_011151
Natural varianti1098 – 10981G → D in EDS4. 1 Publication
VAR_011152
Natural varianti1098 – 10981G → V in EDS4.
VAR_011153
Natural varianti1101 – 11011G → E in EDS4. 1 Publication
VAR_001796
Natural varianti1104 – 11041G → A in EDS4. 1 Publication
VAR_001797
Natural varianti1161 – 11611G → V in EDS4.
VAR_011154
Natural varianti1164 – 11641G → E in EDS4.
VAR_011155
Natural varianti1164 – 11641G → R in EDS4.
VAR_011156
Natural varianti1167 – 11671G → V in EDS4. 1 Publication
VAR_001799
Natural varianti1170 – 11701G → D in EDS4. 2 Publications
VAR_001800
Natural varianti1170 – 11701G → V in EDS4.
VAR_011157
Natural varianti1173 – 11731G → E in EDS4. 3 Publications
VAR_001801
Natural varianti1173 – 11731G → R in EDS4; Gottron type acrogeria. 1 Publication
VAR_011158
Natural varianti1176 – 11761G → V in EDS4; severe. 1 Publication
VAR_001802
Natural varianti1179 – 11791G → R in EDS4.
VAR_011159
Natural varianti1182 – 11821G → E in EDS4. 1 Publication
VAR_001803
Natural varianti1185 – 11851G → D in EDS4; severe variant. 1 Publication
VAR_001804
Natural varianti1185 – 11851G → V in EDS4. 1 Publication
VAR_001805
Natural varianti1188 – 11881G → E in EDS4; severe variant. 2 Publications
VAR_001806
Natural varianti1188 – 11881G → R in EDS4. 1 Publication
VAR_001807
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti169 – 1691L → F in AAA.
VAR_001767
Natural varianti786 – 7861G → R in AAA. 2 Publications
VAR_001782

Keywords - Diseasei

Aortic aneurysm, Disease mutation, Ehlers-Danlos syndrome

Organism-specific databases

MalaCardsiCOL3A1.
MIMi100070. phenotype.
130020. phenotype.
130050. phenotype.
Orphaneti2500. Acrogeria.
286. Ehlers-Danlos syndrome, vascular type.
86. Familial abdominal aortic aneurysm.
231160. Familial cerebral saccular aneurysm.
PharmGKBiPA26716.

Chemistry

ChEMBLiCHEMBL2364188.
DrugBankiDB00048. Collagenase clostridium histolyticum.

Polymorphism and mutation databases

BioMutaiCOL3A1.
DMDMi124056490.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2323Add
BLAST
Propeptidei24 – 153130N-terminal propeptidePRO_0000005740Add
BLAST
Chaini154 – 12211068Collagen alpha-1(III) chainPRO_0000005741Add
BLAST
Propeptidei1222 – 1466245C-terminal propeptidePRO_0000005742Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei263 – 26315-hydroxylysine; alternate
Glycosylationi263 – 2631O-linked (Gal...); alternate
Modified residuei284 – 28415-hydroxylysine
Modified residuei860 – 86015-hydroxylysine
Modified residuei977 – 97715-hydroxylysine
Modified residuei1094 – 109415-hydroxylysine; partial
Modified residuei1106 – 110615-hydroxylysine
Disulfide bondi1196 – 1196InterchainPROSITE-ProRule annotation1 Publication
Disulfide bondi1197 – 1197InterchainPROSITE-ProRule annotation1 Publication
Disulfide bondi1262 ↔ 1294PROSITE-ProRule annotation1 Publication
Disulfide bondi1268 – 1268Interchain (with C-1285)PROSITE-ProRule annotation1 Publication
Disulfide bondi1285 – 1285Interchain (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.
PhosphoSiteiP02461.

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 interactions.
DIPiDIP-57177N.
IntActiP02461. 20 interactions.
MINTiMINT-7299332.
STRINGi9606.ENSP00000304408.

Structurei

Secondary structure

1
1466
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi1236 – 124914Combined sources
Beta strandi1253 – 12575Combined sources
Helixi1262 – 12687Combined sources
Beta strandi1274 – 12796Combined sources
Helixi1286 – 12883Combined sources
Beta strandi1290 – 12956Combined sources
Turni1296 – 12994Combined sources
Beta strandi1300 – 13034Combined sources
Beta strandi1305 – 13073Combined sources
Beta strandi1309 – 13135Combined sources
Beta strandi1320 – 13223Combined sources
Helixi1328 – 13314Combined sources
Beta strandi1339 – 13413Combined sources
Beta strandi1343 – 13453Combined sources
Helixi1347 – 136014Combined sources
Beta strandi1364 – 137411Combined sources
Turni1381 – 13844Combined sources
Beta strandi1391 – 13933Combined sources
Beta strandi1395 – 13973Combined sources
Beta strandi1399 – 14046Combined sources
Helixi1406 – 14083Combined sources
Beta strandi1411 – 14155Combined sources
Beta strandi1422 – 143413Combined sources
Helixi1436 – 14383Combined sources
Beta strandi1443 – 14453Combined sources
Beta strandi1455 – 146511Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
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. Positions 1249-1466.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02461.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini30 – 8960VWFCPROSITE-ProRule annotationAdd
BLAST
Domaini1232 – 1466235Fibrillar collagen NC1PROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni149 – 16719Nonhelical region (N-terminal)Add
BLAST
Regioni168 – 11961029Triple-helical regionAdd
BLAST
Regioni1197 – 12059Nonhelical region (C-terminal)

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti163 – 1631G → GG in CAA33387 (PubMed:2780304).Curated
Sequence conflicti168 – 1681G → V AA sequence (PubMed:557335).Curated
Sequence conflicti226 – 2283Missing AA sequence (PubMed:557335).Curated
Sequence conflicti241 – 2411E → D in CAA33387 (PubMed:2780304).Curated
Sequence conflicti278 – 2781T → A AA sequence (PubMed:557335).Curated
Sequence conflicti293 – 2953NGA → DGS AA sequence (PubMed:557335).Curated
Sequence conflicti401 – 4011A → L AA sequence (PubMed:7864881).Curated
Sequence conflicti409 – 4091L → P AA sequence (PubMed:7864881).Curated
Sequence conflicti472 – 4721E → D in CAA33387 (PubMed:2780304).Curated
Sequence conflicti488 – 4903PGF → LGS in CAA33387 (PubMed:2780304).Curated
Sequence conflicti589 – 5891A → E AA sequence (PubMed:7864881).Curated
Sequence conflicti614 – 6141T → Y in CAA33387 (PubMed:2780304).Curated
Sequence conflicti635 – 6351P → R in CAA33387 (PubMed:2780304).Curated
Sequence conflicti664 – 6641D → E in CAA33387 (PubMed:2780304).Curated
Sequence conflicti676 – 6761D → N AA sequence (PubMed:687591).Curated
Sequence conflicti803 – 8031T → P AA sequence (PubMed:7864881).Curated
Sequence conflicti896 – 8961S → A AA sequence (PubMed:6246925).Curated
Sequence conflicti980 – 9801S → A AA sequence (PubMed:7016180).Curated
Sequence conflicti985 – 9895ANGLS → PSGQN AA sequence (PubMed:7016180).Curated
Sequence conflicti1019 – 10191D → Y in CAA29886 (PubMed:3357782).Curated
Sequence conflicti1067 – 10671S → P AA sequence (PubMed:7864881).Curated
Sequence conflicti1070 – 10701A → P AA sequence (PubMed:7864881).Curated
Sequence conflicti1097 – 10971T → P AA sequence (PubMed:7016180).Curated
Sequence conflicti1153 – 11542TS → AT AA sequence (PubMed:7016180).Curated
Sequence conflicti1156 – 11561H → S AA sequence (PubMed:7016180).Curated
Sequence conflicti1184 – 11841P → S in CAA33387 (PubMed:2780304).Curated
Sequence conflicti1203 – 12031A → P in CAA33387 (PubMed:2780304).Curated
Sequence conflicti1210 – 12101G → A in CAA33387 (PubMed:2780304).Curated
Sequence conflicti1222 – 12221D → P in AAA52002 (PubMed:2579949).Curated
Sequence conflicti1235 – 12351M → I in AAA52002 (PubMed:2579949).Curated
Sequence conflicti1241 – 12411V → A in CAA29886 (PubMed:3357782).Curated
Sequence conflicti1241 – 12411V → A in CAA25879 (PubMed:6096827).Curated
Sequence conflicti1274 – 12741S → T in AAA52002 (PubMed:2579949).Curated
Sequence conflicti1332 – 13321M → I in AAA52002 (PubMed:2579949).Curated
Sequence conflicti1357 – 13571L → P in AAA52002 (PubMed:2579949).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti169 – 1691L → F in AAA.
VAR_001767
Natural varianti183 – 1831G → C in EDS4. 2 Publications
VAR_001768
Natural varianti183 – 1831G → D in EDS4.
VAR_011095
Natural varianti183 – 1831G → S in EDS4.
VAR_011096
Natural varianti192 – 1921G → V in EDS4.
VAR_011097
Natural varianti201 – 2011G → R in EDS4. 2 Publications
VAR_001769
Natural varianti204 – 2041G → D in EDS4. 1 Publication
VAR_011098
Natural varianti204 – 2041G → S in EDS4.
VAR_011099
Natural varianti210 – 2101G → D in EDS4. 1 Publication
VAR_011100
Natural varianti219 – 2191G → C in EDS4.
VAR_011101
Natural varianti225 – 2251G → V in EDS4.
VAR_011102
Natural varianti228 – 2281G → E in EDS4. 2 Publications
VAR_001770
Natural varianti240 – 2401G → R in EDS4.
VAR_011103
Natural varianti243 – 2431G → V in EDS4.
VAR_011104
Natural varianti249 – 2491G → D in EDS4.
VAR_011105
Natural varianti249 – 2491G → V in EDS4.
VAR_011106
Natural varianti252 – 2521G → D in EDS4.
VAR_011107
Natural varianti252 – 2521G → R in EDS4.
VAR_011108
Natural varianti252 – 2521G → V in EDS4.
VAR_011109
Natural varianti255 – 2551G → V in EDS4.
VAR_011110
Natural varianti264 – 2641G → R in EDS4. 1 Publication
VAR_011111
Natural varianti267 – 2671G → V in EDS4.
VAR_011112
Natural varianti297 – 2971G → R in EDS4. 1 Publication
VAR_037007
Natural varianti303 – 3031G → R in fibromuscular dysplasia and aortic aneurysm. 1 Publication
VAR_001771
Natural varianti321 – 3211G → V in EDS4.
VAR_011113
Natural varianti327 – 3271G → D in EDS4. 1 Publication
VAR_011114
Natural varianti345 – 3451G → R in EDS4.
VAR_011115
Natural varianti417 – 4171G → R in EDS4.
VAR_011116
Natural varianti420 – 4201G → S in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035738
Natural varianti444 – 4441G → R in EDS4.
VAR_011117
Natural varianti489 – 4891G → E in EDS4.
VAR_011118
Natural varianti501 – 5011G → R in EDS4.
VAR_011119
Natural varianti519 – 5191G → V in EDS4.
VAR_011120
Natural varianti534 – 5341G → E.
Corresponds to variant rs41263744 [ dbSNP | Ensembl ].
VAR_055665
Natural varianti540 – 5401G → R in EDS4. 2 Publications
VAR_001772
Natural varianti549 – 5491G → E in EDS4.
VAR_011121
Natural varianti552 – 5521G → E in EDS4.
VAR_011122
Natural varianti567 – 5671G → E in EDS4. 1 Publication
VAR_001773
Natural varianti582 – 5821G → S in EDS4. 1 Publication
VAR_001774
Natural varianti588 – 5881G → D in EDS4.
VAR_011123
Natural varianti602 – 6021P → T.1 Publication
Corresponds to variant rs35795890 [ dbSNP | Ensembl ].
VAR_001775
Natural varianti635 – 6351P → L.1 Publication
VAR_001776
Natural varianti636 – 6361G → R in EDS4.
VAR_011124
Natural varianti657 – 6571G → E in EDS4.
VAR_011125
Natural varianti660 – 6601G → D in EDS4.
VAR_011126
Natural varianti666 – 6661G → D in EDS4. 1 Publication
VAR_001777
Natural varianti668 – 6681P → T.1 Publication
Corresponds to variant rs1801183 [ dbSNP | Ensembl ].
VAR_011127
Natural varianti679 – 6791A → T.1 Publication
Corresponds to variant rs41263773 [ dbSNP | Ensembl ].
VAR_055666
Natural varianti686 – 6861P → A.
Corresponds to variant rs41263775 [ dbSNP | Ensembl ].
VAR_055667
Natural varianti698 – 6981A → T.2 Publications
Corresponds to variant rs1800255 [ dbSNP | Ensembl ].
VAR_001778
Natural varianti699 – 6991G → R in EDS4.
VAR_011128
Natural varianti726 – 7261G → R in EDS4. 2 Publications
VAR_001779
Natural varianti738 – 7381G → S in EDS4.
VAR_011129
Natural varianti738 – 7381G → V in EDS4.
VAR_011130
Natural varianti744 – 7441G → V in EDS4.
VAR_011131
Natural varianti756 – 7561G → E in EDS4. 1 Publication
VAR_001780
Natural varianti762 – 7621G → C in EDS4. 1 Publication
VAR_001781
Natural varianti786 – 7861G → R in AAA. 2 Publications
VAR_001782
Natural varianti804 – 8041G → S in EDS3. 1 Publication
VAR_001783
Natural varianti828 – 8281G → R in EDS4. 1 Publication
VAR_001784
Natural varianti828 – 8281G → W in EDS4.
VAR_011132
Natural varianti830 – 8389Missing in EDS4. 1 Publication
VAR_037008
Natural varianti852 – 8521G → C in EDS4.
VAR_011133
Natural varianti879 – 8791G → V in EDS4.
VAR_011134
Natural varianti882 – 8821G → D in EDS4.
VAR_011135
Natural varianti900 – 9001G → D in EDS4.
VAR_011136
Natural varianti903 – 9031G → E in EDS4.
VAR_011137
Natural varianti909 – 9091G → D in EDS4. 1 Publication
VAR_001785
Natural varianti909 – 9091G → V in EDS4.
VAR_011138
Natural varianti918 – 9181G → E in EDS4.
VAR_011139
Natural varianti924 – 9241G → C in EDS4.
VAR_011140
Natural varianti936 – 9361G → R in EDS4. 2 Publications
VAR_001786
Natural varianti936 – 9361G → S in EDS4.
VAR_001787
Natural varianti939 – 9391G → D in EDS4. 1 Publication
VAR_001788
Natural varianti942 – 9421G → E in EDS4.
VAR_011141
Natural varianti957 – 9571G → S in EDS4; severe variant. 1 Publication
VAR_001789
Natural varianti960 – 9601G → V in EDS4; severe variant. 1 Publication
VAR_001790
Natural varianti966 – 9661G → V in EDS4.
VAR_011142
Natural varianti972 – 9721G → A in EDS4.
VAR_011143
Natural varianti984 – 9841G → T in EDS4; requires 2 nucleotide substitutions.
VAR_011144
Natural varianti996 – 9961G → E in EDS4. 1 Publication
VAR_001791
Natural varianti999 – 9991G → R in EDS4.
VAR_011145
Natural varianti1011 – 10111G → E in EDS4.
VAR_011146
Natural varianti1014 – 10141G → E in EDS4. 1 Publication
VAR_001792
Natural varianti1032 – 10321G → V in EDS4.
VAR_011147
Natural varianti1035 – 10351G → C in EDS4.
VAR_011148
Natural varianti1044 – 10441G → D in EDS4. 1 Publication
VAR_011149
Natural varianti1050 – 10501G → D in EDS4; mild variant. 1 Publication
VAR_001793
Natural varianti1050 – 10501G → V in EDS4. 1 Publication
VAR_011150
Natural varianti1071 – 10711G → V in EDS4. 1 Publication
VAR_001794
Natural varianti1077 – 10771G → V in EDS4. 1 Publication
VAR_001795
Natural varianti1089 – 10891G → D in EDS4.
VAR_011151
Natural varianti1098 – 10981G → D in EDS4. 1 Publication
VAR_011152
Natural varianti1098 – 10981G → V in EDS4.
VAR_011153
Natural varianti1101 – 11011G → E in EDS4. 1 Publication
VAR_001796
Natural varianti1104 – 11041G → A in EDS4. 1 Publication
VAR_001797
Natural varianti1161 – 11611G → V in EDS4.
VAR_011154
Natural varianti1164 – 11641G → E in EDS4.
VAR_011155
Natural varianti1164 – 11641G → R in EDS4.
VAR_011156
Natural varianti1164 – 11641G → S in spondyloepiphyseal dysplasia.
VAR_001798
Natural varianti1167 – 11671G → V in EDS4. 1 Publication
VAR_001799
Natural varianti1170 – 11701G → D in EDS4. 2 Publications
VAR_001800
Natural varianti1170 – 11701G → V in EDS4.
VAR_011157
Natural varianti1173 – 11731G → E in EDS4. 3 Publications
VAR_001801
Natural varianti1173 – 11731G → R in EDS4; Gottron type acrogeria. 1 Publication
VAR_011158
Natural varianti1176 – 11761G → V in EDS4; severe. 1 Publication
VAR_001802
Natural varianti1179 – 11791G → R in EDS4.
VAR_011159
Natural varianti1182 – 11821G → E in EDS4. 1 Publication
VAR_001803
Natural varianti1185 – 11851G → D in EDS4; severe variant. 1 Publication
VAR_001804
Natural varianti1185 – 11851G → V in EDS4. 1 Publication
VAR_001805
Natural varianti1188 – 11881G → E in EDS4; severe variant. 2 Publications
VAR_001806
Natural varianti1188 – 11881G → R in EDS4. 1 Publication
VAR_001807
Natural varianti1205 – 12051I → V.1 Publication
Corresponds to variant rs2271683 [ dbSNP | Ensembl ].
VAR_020012
Natural varianti1353 – 13531H → Q.7 Publications
Corresponds to variant rs1516446 [ dbSNP | Ensembl ].
VAR_030115
Natural varianti1434 – 14341R → C in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035739

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei847 – 1149303Missing in isoform 2. 1 PublicationVSP_022502Add
BLAST

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
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. Positions 1249-1466.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107678. 9 interactions.
DIPiDIP-57177N.
IntActiP02461. 20 interactions.
MINTiMINT-7299332.
STRINGi9606.ENSP00000304408.

Chemistry

ChEMBLiCHEMBL2364188.
DrugBankiDB00048. Collagenase clostridium histolyticum.

PTM databases

iPTMnetiP02461.
PhosphoSiteiP02461.

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.
GeneCardsiCOL3A1.
GeneReviewsiCOL3A1.
HGNCiHGNC:2201. COL3A1.
HPAiCAB016766.
HPA007583.
MalaCardsiCOL3A1.
MIMi100070. phenotype.
120180. gene.
130020. phenotype.
130050. phenotype.
neXtProtiNX_P02461.
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

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.

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: September 7, 2016
This is version 189 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.