UniProtKB - Q76LX8 (ATS13_HUMAN)
Protein
A disintegrin and metalloproteinase with thrombospondin motifs 13
Gene
ADAMTS13
Organism
Homo sapiens (Human)
Status
Functioni
Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.1 Publication
Catalytic activityi
- The enzyme cleaves the von Willebrand factor at bond 842-Tyr-|-Met-843 within the A2 domain.1 Publication EC:3.4.24.87
Cofactori
Protein has several cofactor binding sites:- Zn2+By similarityNote: Binds 1 zinc ion per subunit.By similarity
- Ca2+1 PublicationNote: Binds 4 Ca2+ ions.1 Publication
Activity regulationi
Zinc and calcium ions cooperatively modulate enzyme activity. The cleavage of the pro-domain is not required for protease activity. Dependence on calcium for proteolytic activity is mediated by the high affinity site.3 Publications
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 83 | CalciumSequence analysis | 1 | |
Metal bindingi | 173 | CalciumSequence analysis | 1 | |
Metal bindingi | 182 | Calcium; high affinity1 Publication | 1 | |
Metal bindingi | 184 | Calcium; high affinity1 Publication | 1 | |
Metal bindingi | 187 | Calcium; high affinity1 Publication | 1 | |
Metal bindingi | 212 | Calcium; high affinity1 Publication | 1 | |
Metal bindingi | 224 | Zinc; catalyticBy similarity | 1 | |
Active sitei | 225 | PROSITE-ProRule annotation | 1 | |
Metal bindingi | 228 | Zinc; catalyticBy similarity | 1 | |
Metal bindingi | 234 | Zinc; catalyticBy similarity | 1 | |
Metal bindingi | 281 | CalciumSequence analysis | 1 | |
Metal bindingi | 284 | CalciumSequence analysis | 1 |
GO - Molecular functioni
- calcium ion binding Source: UniProtKB
- integrin binding Source: UniProtKB
- metalloendopeptidase activity Source: GO_Central
- metallopeptidase activity Source: UniProtKB
- zinc ion binding Source: UniProtKB
GO - Biological processi
- cell-matrix adhesion Source: UniProtKB
- cellular response to interferon-gamma Source: Ensembl
- cellular response to interleukin-4 Source: Ensembl
- cellular response to lipopolysaccharide Source: Ensembl
- cellular response to tumor necrosis factor Source: Ensembl
- extracellular matrix organization Source: GO_Central
- glycoprotein metabolic process Source: UniProtKB
- integrin-mediated signaling pathway Source: UniProtKB
- peptide catabolic process Source: UniProtKB
- platelet activation Source: UniProtKB
- protein processing Source: UniProtKB
- proteolysis Source: UniProtKB
- response to amine Source: Ensembl
- response to potassium ion Source: Ensembl
- response to toxic substance Source: Ensembl
Keywordsi
Molecular function | Hydrolase, Metalloprotease, Protease |
Biological process | Blood coagulation, Hemostasis |
Ligand | Calcium, Metal-binding, Zinc |
Enzyme and pathway databases
BRENDAi | 3.4.24.87, 2681 |
PathwayCommonsi | Q76LX8 |
Reactomei | R-HSA-5083635, Defective B3GALTL causes Peters-plus syndrome (PpS) R-HSA-5173214, O-glycosylation of TSR domain-containing proteins |
SIGNORi | Q76LX8 |
Protein family/group databases
MEROPSi | M12.241 |
Names & Taxonomyi
Protein namesi | Recommended name: A disintegrin and metalloproteinase with thrombospondin motifs 13 (EC:3.4.24.871 Publication)Short name: ADAM-TS 13 Short name: ADAM-TS13 Short name: ADAMTS-13 Alternative name(s): von Willebrand factor-cleaving protease Short name: vWF-CP Short name: vWF-cleaving protease |
Gene namesi | Name:ADAMTS13 Synonyms:C9orf8 ORF Names:UNQ6102/PRO20085 |
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
HGNCi | HGNC:1366, ADAMTS13 |
MIMi | 604134, gene |
neXtProti | NX_Q76LX8 |
VEuPathDBi | HostDB:ENSG00000160323.18 |
Subcellular locationi
Extracellular region or secreted
- Secreted 1 Publication
Note: Secretion enhanced by O-fucosylation of TSP type-1 repeats.
Endoplasmic reticulum
- endoplasmic reticulum lumen Source: Reactome
Extracellular region or secreted
- extracellular matrix Source: GO_Central
- extracellular space Source: Ensembl
Other locations
- cell surface Source: UniProtKB
Keywords - Cellular componenti
SecretedPathology & Biotechi
Involvement in diseasei
Thrombotic thrombocytopenic purpura, hereditary (TTP)20 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_067770 | 79 | I → M in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875297EnsemblClinVar. | 1 | |
Natural variantiVAR_027110 | 88 | V → M in TTP; reduces protein secretion and proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs281875302EnsemblClinVar. | 1 | |
Natural variantiVAR_027111 | 96 | H → D in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908467EnsemblClinVar. | 1 | |
Natural variantiVAR_027112 | 102 | R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908469EnsemblClinVar. | 1 | |
Natural variantiVAR_067771 | 119 | S → F in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875291EnsemblClinVar. | 1 | |
Natural variantiVAR_067772 | 178 | I → T in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875289EnsemblClinVar. | 1 | |
Natural variantiVAR_027113 | 193 | R → W in TTP; low activity. 2 PublicationsCorresponds to variant dbSNP:rs281875287EnsemblClinVar. | 1 | |
Natural variantiVAR_027114 | 196 | T → I in TTP. 3 PublicationsCorresponds to variant dbSNP:rs121908470EnsemblClinVar. | 1 | |
Natural variantiVAR_067773 | 203 | S → P in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875298EnsemblClinVar. | 1 | |
Natural variantiVAR_067774 | 232 | L → Q in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875292EnsemblClinVar. | 1 | |
Natural variantiVAR_027115 | 234 | H → Q in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875304EnsemblClinVar. | 1 | |
Natural variantiVAR_067775 | 235 | D → H in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875337EnsemblClinVar. | 1 | |
Natural variantiVAR_027116 | 250 | A → V in TTP; mild effect on protein secretion; strong reduction of proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs121908478EnsemblClinVar. | 1 | |
Natural variantiVAR_067776 | 263 | S → C in TTP. 2 PublicationsCorresponds to variant dbSNP:rs281875293EnsemblClinVar. | 1 | |
Natural variantiVAR_027117 | 268 | R → P in TTP; affects protein secretion. 2 PublicationsCorresponds to variant dbSNP:rs121908477EnsemblClinVar. | 1 | |
Natural variantiVAR_067777 | 304 | Y → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875285EnsemblClinVar. | 1 | |
Natural variantiVAR_067778 | 311 | C → Y in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875336EnsemblClinVar. | 1 | |
Natural variantiVAR_067780 | 347 | C → S in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875294EnsemblClinVar. | 1 | |
Natural variantiVAR_067781 | 349 | R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875288EnsemblClinVar. | 1 | |
Natural variantiVAR_067782 | 353 | P → L in TTP. 3 PublicationsCorresponds to variant dbSNP:rs281875338EnsemblClinVar. | 1 | |
Natural variantiVAR_027118 | 390 | W → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875306EnsemblClinVar. | 1 | |
Natural variantiVAR_027119 | 398 | R → H in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908471EnsemblClinVar. | 1 | |
Natural variantiVAR_067783 | 507 | R → Q in TTP. 2 PublicationsCorresponds to variant dbSNP:rs281875296EnsemblClinVar. | 1 | |
Natural variantiVAR_027122 | 508 | C → Y in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875305EnsemblClinVar. | 1 | |
Natural variantiVAR_067784 | 525 | G → D in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875286EnsemblClinVar. | 1 | |
Natural variantiVAR_027123 | 528 | R → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908473EnsemblClinVar. | 1 | |
Natural variantiVAR_067785 | 596 | A → V in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875299EnsemblClinVar. | 1 | |
Natural variantiVAR_067786 | 606 | A → P in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875290EnsemblClinVar. | 1 | |
Natural variantiVAR_067787 | 658 | Y → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875335EnsemblClinVar. | 1 | |
Natural variantiVAR_067788 | 671 | P → L in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875295EnsemblClinVar. | 1 | |
Natural variantiVAR_027126 | 673 | I → F in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875307EnsemblClinVar. | 1 | |
Natural variantiVAR_027127 | 692 | R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908475EnsemblClinVar. | 1 | |
Natural variantiVAR_067789 | 758 | C → R in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875300EnsemblClinVar. | 1 | |
Natural variantiVAR_067790 | 908 | C → S in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875301EnsemblClinVar. | 1 | |
Natural variantiVAR_027131 | 908 | C → Y in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875301EnsemblClinVar. | 1 | |
Natural variantiVAR_027132 | 951 | C → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908468EnsemblClinVar. | 1 | |
Natural variantiVAR_067791 | 977 – 979 | CAR → W in TTP. 1 Publication | 3 | |
Natural variantiVAR_027133 | 1024 | C → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908472EnsemblClinVar. | 1 | |
Natural variantiVAR_067792 | 1060 | R → W in TTP; affects protein secretion; the mutant protein has reduced protease activity. 3 PublicationsCorresponds to variant dbSNP:rs142572218EnsemblClinVar. | 1 | |
Natural variantiVAR_027136 | 1123 | R → C in TTP; impairs protein secretion; the mutant protein has reduced protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875340EnsemblClinVar. | 1 | |
Natural variantiVAR_027137 | 1213 | C → Y in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908474EnsemblClinVar. | 1 | |
Natural variantiVAR_067793 | 1219 | R → W in TTP; affects protein secretion; the mutant protein has reduced protease activity. 1 PublicationCorresponds to variant dbSNP:rs281875339EnsemblClinVar. | 1 | |
Natural variantiVAR_027138 | 1239 | G → V in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875303EnsemblClinVar. | 1 | |
Natural variantiVAR_027139 | 1336 | R → W in TTP; impairs protein secretion and proteolytic activity. 2 PublicationsCorresponds to variant dbSNP:rs281875308EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 71 | R → K: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with D-73. 1 Publication | 1 | |
Mutagenesisi | 73 | R → D: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with K-71. 1 Publication | 1 | |
Mutagenesisi | 83 | E → A: No change in calcium dependence for proteolysis. 1 Publication | 1 | |
Mutagenesisi | 173 | D → A: No change in calcium dependence for proteolysis. 1 Publication | 1 | |
Mutagenesisi | 184 | E → A: Dramatically reduced affinity for calcium. 1 Publication | 1 | |
Mutagenesisi | 187 | D → A: Dramatically reduced affinity for calcium. 1 Publication | 1 | |
Mutagenesisi | 212 | E → A: Dramatically reduced affinity for calcium. 1 Publication | 1 | |
Mutagenesisi | 399 | S → A: No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes secretion of ADAMTS13; when associated with A-698. 1 Publication | 1 | |
Mutagenesisi | 698 | S → A: No effect on cleavage of VWF and greatly reduced secretion of ADAMTS13. Abolishes secretion of ADAMTS13; when associated with A-399. 1 Publication | 1 | |
Mutagenesisi | 757 | S → A: No effect on cleavage of VWF and little change in secretion of ADAMTS13. 1 Publication | 1 | |
Mutagenesisi | 907 | S → A: No effect on cleavage of VWF and greatly reduced secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-965. 1 Publication | 1 | |
Mutagenesisi | 965 | S → A: No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-907. 1 Publication | 1 | |
Mutagenesisi | 1027 | S → A: No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-1087. 1 Publication | 1 | |
Mutagenesisi | 1087 | S → A: No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-1027. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 11093 |
MalaCardsi | ADAMTS13 |
MIMi | 274150, phenotype |
OpenTargetsi | ENSG00000160323 |
Orphaneti | 93583, Congenital thrombotic thrombocytopenic purpura |
PharmGKBi | PA24539 |
Miscellaneous databases
Pharosi | Q76LX8, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2346492 |
DrugBanki | DB13133, Von Willebrand Factor Human DB12872, Vonicog Alfa |
Genetic variation databases
BioMutai | ADAMTS13 |
DMDMi | 74749836 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 29 | Sequence analysisAdd BLAST | 29 | |
PropeptideiPRO_0000247510 | 30 – 74 | 3 PublicationsAdd BLAST | 45 | |
ChainiPRO_0000247511 | 75 – 1427 | A disintegrin and metalloproteinase with thrombospondin motifs 13Add BLAST | 1353 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 142 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 146 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Disulfide bondi | 155 ↔ 208 | By similarity | ||
Disulfide bondi | 202 ↔ 281 | By similarity | ||
Disulfide bondi | 242 ↔ 265 | By similarity | ||
Disulfide bondi | 311 ↔ 337 | Combined sources1 Publication | ||
Disulfide bondi | 322 ↔ 347 | Combined sources1 Publication | ||
Disulfide bondi | 332 ↔ 366 | Combined sources1 Publication | ||
Disulfide bondi | 360 ↔ 371 | Combined sources1 Publication | ||
Glycosylationi | 387 | C-linked (Man) tryptophanCombined sources | 1 | |
Disulfide bondi | 396 ↔ 433 | Combined sources1 Publication | ||
Glycosylationi | 399 | O-linked (Fuc...) serineCombined sources | 1 | |
Disulfide bondi | 400 ↔ 438 | Combined sources1 Publication | ||
Disulfide bondi | 411 ↔ 423 | Combined sources1 Publication | ||
Disulfide bondi | 450 ↔ 487 | Combined sources | ||
Disulfide bondi | 483 ↔ 522 | Combined sources1 Publication | ||
Disulfide bondi | 508 ↔ 527 | Combined sources1 Publication | ||
Disulfide bondi | 532 ↔ 548 | Combined sources1 Publication | ||
Disulfide bondi | 545 ↔ 555 | Combined sources1 Publication | ||
Glycosylationi | 552 | N-linked (GlcNAc...) asparagineCombined sources1 Publication | 1 | |
Glycosylationi | 579 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 614 | N-linked (GlcNAc...) asparagineCombined sources2 Publications | 1 | |
Glycosylationi | 667 | N-linked (GlcNAc...) (complex) asparagine2 Publications | 1 | |
Glycosylationi | 698 | O-linked (Fuc...) serine1 Publication | 1 | |
Glycosylationi | 707 | N-linked (GlcNAc...) (complex) asparagine1 Publication | 1 | |
Glycosylationi | 757 | O-linked (Fuc...) serine1 Publication | 1 | |
Glycosylationi | 828 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 907 | O-linked (Fuc...) serine1 Publication | 1 | |
Glycosylationi | 965 | O-linked (Fuc...) serine1 Publication | 1 | |
Glycosylationi | 1027 | O-linked (Fuc...) serine1 Publication | 1 | |
Glycosylationi | 1087 | O-linked (Fuc...) serine1 Publication | 1 | |
Glycosylationi | 1235 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 1354 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Post-translational modificationi
Glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X2-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS13. May also be C-glycosylated on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and also N-glycosylated. These other glycosylations can also facilitate secretion.5 Publications
The precursor is processed by a furin endopeptidase which cleaves off the pro-domain.
Keywords - PTMi
Cleavage on pair of basic residues, Disulfide bond, Glycoprotein, ZymogenProteomic databases
MassIVEi | Q76LX8 |
PaxDbi | Q76LX8 |
PeptideAtlasi | Q76LX8 |
PRIDEi | Q76LX8 |
ProteomicsDBi | 68682 [Q76LX8-1] 68683 [Q76LX8-2] 68684 [Q76LX8-3] 84255 |
PTM databases
GlyConnecti | 637, 10 N-Linked glycans (5 sites), 1 O-Linked glycan (3 sites) |
GlyGeni | Q76LX8, 27 sites, 3 O-linked glycans (8 sites) |
iPTMneti | Q76LX8 |
PhosphoSitePlusi | Q76LX8 |
Expressioni
Tissue specificityi
Plasma. Expressed primarily in liver.1 Publication
Gene expression databases
Bgeei | ENSG00000160323, Expressed in right lobe of liver and 142 other tissues |
ExpressionAtlasi | Q76LX8, baseline and differential |
Genevisiblei | Q76LX8, HS |
Organism-specific databases
HPAi | ENSG00000160323, Tissue enriched (liver) |
Interactioni
Binary interactionsi
Q76LX8
With | #Exp. | IntAct |
---|---|---|
VWF [P04275] | 19 | EBI-981764,EBI-981819 |
GO - Molecular functioni
- integrin binding Source: UniProtKB
Protein-protein interaction databases
DIPi | DIP-36050N |
IntActi | Q76LX8, 2 interactors |
STRINGi | 9606.ENSP00000360997 |
Chemistry databases
BindingDBi | Q76LX8 |
Miscellaneous databases
RNActi | Q76LX8, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q76LX8 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q76LX8 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 80 – 286 | Peptidase M12BPROSITE-ProRule annotationAdd BLAST | 207 | |
Domaini | 287 – 383 | DisintegrinAdd BLAST | 97 | |
Domaini | 384 – 439 | TSP type-1 1PROSITE-ProRule annotationAdd BLAST | 56 | |
Domaini | 682 – 730 | TSP type-1 2PROSITE-ProRule annotationAdd BLAST | 49 | |
Domaini | 742 – 805 | TSP type-1 3PROSITE-ProRule annotationAdd BLAST | 64 | |
Domaini | 808 – 859 | TSP type-1 4PROSITE-ProRule annotationAdd BLAST | 52 | |
Domaini | 896 – 950 | TSP type-1 5PROSITE-ProRule annotationAdd BLAST | 55 | |
Domaini | 951 – 1011 | TSP type-1 6PROSITE-ProRule annotationAdd BLAST | 61 | |
Domaini | 1012 – 1068 | TSP type-1 7PROSITE-ProRule annotationAdd BLAST | 57 | |
Domaini | 1072 – 1131 | TSP type-1 8PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 1192 – 1298 | CUB 1Add BLAST | 107 | |
Domaini | 1299 – 1427 | CUB 2Add BLAST | 129 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 440 – 556 | Cysteine-richAdd BLAST | 117 | |
Regioni | 556 – 685 | SpacerAdd BLAST | 130 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 498 – 500 | Cell attachment siteSequence analysis | 3 |
Domaini
The pro-domain is not required for folding or secretion and does not perform the common function of maintening enzyme latency.
The globular cysteineless spacer domain adopts a jelly-roll topology, and is necessary to recognize and cleave vWF. The C-terminal TSP type-1 and CUB domains may modulate this interaction.
Keywords - Domaini
Repeat, SignalPhylogenomic databases
eggNOGi | KOG3538, Eukaryota |
GeneTreei | ENSGT00940000158379 |
HOGENOMi | CLU_000660_10_1_1 |
InParanoidi | Q76LX8 |
OMAi | LRSVCEW |
OrthoDBi | 125522at2759 |
PhylomeDBi | Q76LX8 |
TreeFami | TF313537 |
Family and domain databases
Gene3Di | 2.20.100.10, 5 hits 3.40.390.10, 1 hit |
InterProi | View protein in InterPro IPR041645, ADAM_CR_2 IPR006586, ADAM_Cys-rich IPR013273, ADAMTS/ADAMTS-like IPR024079, MetalloPept_cat_dom_sf IPR001590, Peptidase_M12B IPR035914, Sperma_CUB_dom_sf IPR000884, TSP1_rpt IPR036383, TSP1_rpt_sf |
Pfami | View protein in Pfam PF17771, ADAM_CR_2, 1 hit PF01421, Reprolysin, 1 hit PF00090, TSP_1, 1 hit |
PRINTSi | PR01857, ADAMTSFAMILY |
SMARTi | View protein in SMART SM00608, ACR, 1 hit SM00209, TSP1, 7 hits |
SUPFAMi | SSF49854, SSF49854, 2 hits SSF82895, SSF82895, 5 hits |
PROSITEi | View protein in PROSITE PS50215, ADAM_MEPRO, 1 hit PS50092, TSP1, 4 hits PS00142, ZINC_PROTEASE, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q76LX8-1) [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
MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL
60 70 80 90 100
SPGAPLKGRP PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT
110 120 130 140 150
ERYVLTNLNI GAELLRDPSL GAQFRVHLVK MVILTEPEGA PNITANLTSS
160 170 180 190 200
LLSVCGWSQT INPEDDTDPG HADLVLYITR FDLELPDGNR QVRGVTQLGG
210 220 230 240 250
ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS GCGPSGHVMA
260 270 280 290 300
SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ
310 320 330 340 350
PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL
360 370 380 390 400
LVPLLDGTEC GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC
410 420 430 440 450
GGGVVTRRRQ CNNPRPAFGG RACVGADLQA EMCNTQACEK TQLEFMSQQC
460 470 480 490 500
ARTDGQPLRS SPGGASFYHW GAAVPHSQGD ALCRHMCRAI GESFIMKRGD
510 520 530 540 550
SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ VWDRCQVCGG
560 570 580 590 600
DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG
610 620 630 640 650
GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ
660 670 680 690 700
EDADIQVYRR YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG
710 720 730 740 750
AGLRWVNYSC LDQARKELVE TVQCQGSQQP PAWPEACVLE PCPPYWAVGD
760 770 780 790 800
FGPCSASCGG GLRERPVRCV EAQGSLLKTL PPARCRAGAQ QPAVALETCN
810 820 830 840 850
PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA PVTEGPGSVD
860 870 880 890 900
EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA
910 920 930 940 950
AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP
960 970 980 990 1000
CPARWQYKLA ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR
1010 1020 1030 1040 1050
PEPQEACSLE PCPPRWKVMS LGPCSASCGL GTARRSVACV QLDQGQDVEV
1060 1070 1080 1090 1100
DEAACAALVR PEASVPCLIA DCTYRWHVGT WMECSVSCGD GIQRRRDTCL
1110 1120 1130 1140 1150
GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGTPSLVP HEEAAAPGRT
1160 1170 1180 1190 1200
TATPAGASLE WSQARGLLFS PAPQPRRLLP GPQENSVQSS ACGRQHLEPT
1210 1220 1230 1240 1250
GTIDMRGPGQ ADCAVAIGRP LGEVVTLRVL ESSLNCSAGD MLLLWGRLTW
1260 1270 1280 1290 1300
RKMCRKLLDM TFSSKTNTLV VRQRCGRPGG GVLLRYGSQL APETFYRECD
1310 1320 1330 1340 1350
MQLFGPWGEI VSPSLSPATS NAGGCRLFIN VAPHARIAIH ALATNMGAGT
1360 1370 1380 1390 1400
EGANASYILI RDTHSLRTTA FHGQQVLYWE SESSQAEMEF SEGFLKAQAS
1410 1420
LRGQYWTLQS WVPEMQDPQS WKGKEGT
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF6V803 | F6V803_HUMAN | A disintegrin and metalloproteinase... | ADAMTS13 | 276 | Annotation score: | ||
A0A0B4J229 | A0A0B4J229_HUMAN | A disintegrin and metalloproteinase... | ADAMTS13 | 344 | Annotation score: | ||
E7EV88 | E7EV88_HUMAN | A disintegrin and metalloproteinase... | ADAMTS13 | 444 | Annotation score: | ||
A0A0C4DFV8 | A0A0C4DFV8_HUMAN | A disintegrin and metalloproteinase... | ADAMTS13 | 223 | Annotation score: |
Sequence cautioni
The sequence AAQ88485 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence CAB66743 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 101 | E → R AA sequence (PubMed:11574066).Curated | 1 |
Polymorphismi
Genetic variations in ADAMTS13 coding region influence plasmatic ADAMTS13 activity levels. Dependent on the sequence context, the same polymorphisms might be either positive or negative modifiers of gene expression, thereby altering the phenotype of ADAMTS13 deficiency.1 Publication
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027109 | 7 | R → W Does not affect protein secretion. 3 PublicationsCorresponds to variant dbSNP:rs34024143EnsemblClinVar. | 1 | |
Natural variantiVAR_067770 | 79 | I → M in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875297EnsemblClinVar. | 1 | |
Natural variantiVAR_027110 | 88 | V → M in TTP; reduces protein secretion and proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs281875302EnsemblClinVar. | 1 | |
Natural variantiVAR_027111 | 96 | H → D in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908467EnsemblClinVar. | 1 | |
Natural variantiVAR_027112 | 102 | R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908469EnsemblClinVar. | 1 | |
Natural variantiVAR_067771 | 119 | S → F in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875291EnsemblClinVar. | 1 | |
Natural variantiVAR_067772 | 178 | I → T in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875289EnsemblClinVar. | 1 | |
Natural variantiVAR_027113 | 193 | R → W in TTP; low activity. 2 PublicationsCorresponds to variant dbSNP:rs281875287EnsemblClinVar. | 1 | |
Natural variantiVAR_027114 | 196 | T → I in TTP. 3 PublicationsCorresponds to variant dbSNP:rs121908470EnsemblClinVar. | 1 | |
Natural variantiVAR_067773 | 203 | S → P in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875298EnsemblClinVar. | 1 | |
Natural variantiVAR_067774 | 232 | L → Q in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875292EnsemblClinVar. | 1 | |
Natural variantiVAR_027115 | 234 | H → Q in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875304EnsemblClinVar. | 1 | |
Natural variantiVAR_067775 | 235 | D → H in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875337EnsemblClinVar. | 1 | |
Natural variantiVAR_027116 | 250 | A → V in TTP; mild effect on protein secretion; strong reduction of proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs121908478EnsemblClinVar. | 1 | |
Natural variantiVAR_067776 | 263 | S → C in TTP. 2 PublicationsCorresponds to variant dbSNP:rs281875293EnsemblClinVar. | 1 | |
Natural variantiVAR_027117 | 268 | R → P in TTP; affects protein secretion. 2 PublicationsCorresponds to variant dbSNP:rs121908477EnsemblClinVar. | 1 | |
Natural variantiVAR_067777 | 304 | Y → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875285EnsemblClinVar. | 1 | |
Natural variantiVAR_067778 | 311 | C → Y in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875336EnsemblClinVar. | 1 | |
Natural variantiVAR_067779 | 339 | T → R1 PublicationCorresponds to variant dbSNP:rs149517360EnsemblClinVar. | 1 | |
Natural variantiVAR_067780 | 347 | C → S in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875294EnsemblClinVar. | 1 | |
Natural variantiVAR_067781 | 349 | R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875288EnsemblClinVar. | 1 | |
Natural variantiVAR_067782 | 353 | P → L in TTP. 3 PublicationsCorresponds to variant dbSNP:rs281875338EnsemblClinVar. | 1 | |
Natural variantiVAR_027118 | 390 | W → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875306EnsemblClinVar. | 1 | |
Natural variantiVAR_027119 | 398 | R → H in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908471EnsemblClinVar. | 1 | |
Natural variantiVAR_027120 | 448 | Q → E Does not affect protein secretion; normal proteolytic activity. 9 PublicationsCorresponds to variant dbSNP:rs2301612EnsemblClinVar. | 1 | |
Natural variantiVAR_027162 | 456 | Q → H1 PublicationCorresponds to variant dbSNP:rs36220239EnsemblClinVar. | 1 | |
Natural variantiVAR_027163 | 457 | P → L2 PublicationsCorresponds to variant dbSNP:rs36220240EnsemblClinVar. | 1 | |
Natural variantiVAR_027121 | 475 | P → S1 PublicationCorresponds to variant dbSNP:rs11575933EnsemblClinVar. | 1 | |
Natural variantiVAR_067783 | 507 | R → Q in TTP. 2 PublicationsCorresponds to variant dbSNP:rs281875296EnsemblClinVar. | 1 | |
Natural variantiVAR_027122 | 508 | C → Y in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875305EnsemblClinVar. | 1 | |
Natural variantiVAR_067784 | 525 | G → D in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875286EnsemblClinVar. | 1 | |
Natural variantiVAR_027123 | 528 | R → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908473EnsemblClinVar. | 1 | |
Natural variantiVAR_067785 | 596 | A → V in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875299EnsemblClinVar. | 1 | |
Natural variantiVAR_067786 | 606 | A → P in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875290EnsemblClinVar. | 1 | |
Natural variantiVAR_027124 | 618 | P → A4 PublicationsCorresponds to variant dbSNP:rs28647808EnsemblClinVar. | 1 | |
Natural variantiVAR_027125 | 625 | R → H2 PublicationsCorresponds to variant dbSNP:rs36090624EnsemblClinVar. | 1 | |
Natural variantiVAR_067787 | 658 | Y → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875335EnsemblClinVar. | 1 | |
Natural variantiVAR_067788 | 671 | P → L in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875295EnsemblClinVar. | 1 | |
Natural variantiVAR_027126 | 673 | I → F in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875307EnsemblClinVar. | 1 | |
Natural variantiVAR_027127 | 692 | R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908475EnsemblClinVar. | 1 | |
Natural variantiVAR_027128 | 732 | A → V3 PublicationsCorresponds to variant dbSNP:rs41314453EnsemblClinVar. | 1 | |
Natural variantiVAR_027164 | 740 | E → K1 PublicationCorresponds to variant dbSNP:rs36221451EnsemblClinVar. | 1 | |
Natural variantiVAR_067789 | 758 | C → R in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875300EnsemblClinVar. | 1 | |
Natural variantiVAR_027129 | 900 | A → V3 PublicationsCorresponds to variant dbSNP:rs685523EnsemblClinVar. | 1 | |
Natural variantiVAR_027130 | 903 | S → L2 PublicationsCorresponds to variant dbSNP:rs78977446Ensembl. | 1 | |
Natural variantiVAR_067790 | 908 | C → S in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875301EnsemblClinVar. | 1 | |
Natural variantiVAR_027131 | 908 | C → Y in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875301EnsemblClinVar. | 1 | |
Natural variantiVAR_027132 | 951 | C → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908468EnsemblClinVar. | 1 | |
Natural variantiVAR_067791 | 977 – 979 | CAR → W in TTP. 1 Publication | 3 | |
Natural variantiVAR_027165 | 982 | G → R1 PublicationCorresponds to variant dbSNP:rs36222275Ensembl. | 1 | |
Natural variantiVAR_027133 | 1024 | C → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908472EnsemblClinVar. | 1 | |
Natural variantiVAR_027134 | 1033 | A → T2 PublicationsCorresponds to variant dbSNP:rs28503257EnsemblClinVar. | 1 | |
Natural variantiVAR_067792 | 1060 | R → W in TTP; affects protein secretion; the mutant protein has reduced protease activity. 3 PublicationsCorresponds to variant dbSNP:rs142572218EnsemblClinVar. | 1 | |
Natural variantiVAR_027135 | 1095 | R → W in a patient with thrombotic thrombocytopenic purpura. 1 PublicationCorresponds to variant dbSNP:rs782383410Ensembl. | 1 | |
Natural variantiVAR_027136 | 1123 | R → C in TTP; impairs protein secretion; the mutant protein has reduced protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875340EnsemblClinVar. | 1 | |
Natural variantiVAR_027137 | 1213 | C → Y in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908474EnsemblClinVar. | 1 | |
Natural variantiVAR_067793 | 1219 | R → W in TTP; affects protein secretion; the mutant protein has reduced protease activity. 1 PublicationCorresponds to variant dbSNP:rs281875339EnsemblClinVar. | 1 | |
Natural variantiVAR_027166 | 1226 | T → I1 PublicationCorresponds to variant dbSNP:rs36222894EnsemblClinVar. | 1 | |
Natural variantiVAR_027138 | 1239 | G → V in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875303EnsemblClinVar. | 1 | |
Natural variantiVAR_067794 | 1314 | S → L Found in a patient with hemolytic uremic syndrome. 1 PublicationCorresponds to variant dbSNP:rs142060916EnsemblClinVar. | 1 | |
Natural variantiVAR_027139 | 1336 | R → W in TTP; impairs protein secretion and proteolytic activity. 2 PublicationsCorresponds to variant dbSNP:rs281875308EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055537 | 2 – 329 | Missing in isoform 4. 1 PublicationAdd BLAST | 328 | |
Alternative sequenceiVSP_020002 | 275 – 305 | Missing in isoform 3. 1 PublicationAdd BLAST | 31 | |
Alternative sequenceiVSP_055538 | 658 – 692 | YRRYG…WAAVR → GGVRAQLMHISWWSRPGLGE RDLCARGRWPGGSSD in isoform 4. 1 PublicationAdd BLAST | 35 | |
Alternative sequenceiVSP_055539 | 693 – 1427 | Missing in isoform 4. 1 PublicationAdd BLAST | 735 | |
Alternative sequenceiVSP_020003 | 1135 – 1190 | Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST | 56 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB069698 mRNA Translation: BAB69487.2 AY055376 mRNA Translation: AAL17652.1 AF414401 mRNA Translation: AAL11095.1 AJ305314 mRNA Translation: CAC83682.1 AJ420810 mRNA Translation: CAD12729.1 AJ011374 mRNA Translation: CAB66157.1 DQ422807 Genomic DNA Translation: ABD72606.1 AL158826, AL593848 Genomic DNA Translation: CAI12850.1 AL158826, AL593848 Genomic DNA Translation: CAI12851.1 AL158826, AL593848 Genomic DNA Translation: CAI12852.1 CH471090 Genomic DNA Translation: EAW88086.1 AY358118 mRNA Translation: AAQ88485.1 Different initiation. AL136809 mRNA Translation: CAB66743.1 Different initiation. |
CCDSi | CCDS6970.1 [Q76LX8-1] CCDS6971.1 [Q76LX8-3] CCDS6972.1 [Q76LX8-2] |
RefSeqi | NP_620594.1, NM_139025.4 [Q76LX8-1] NP_620595.1, NM_139026.4 [Q76LX8-3] NP_620596.2, NM_139027.4 [Q76LX8-2] |
Genome annotation databases
Ensembli | ENST00000355699; ENSP00000347927; ENSG00000160323 [Q76LX8-2] ENST00000356589; ENSP00000348997; ENSG00000160323 [Q76LX8-3] ENST00000371929; ENSP00000360997; ENSG00000160323 [Q76LX8-1] ENST00000626597; ENSP00000486201; ENSG00000281244 [Q76LX8-1] ENST00000626744; ENSP00000486734; ENSG00000281244 [Q76LX8-2] ENST00000630465; ENSP00000485989; ENSG00000281244 [Q76LX8-3] |
GeneIDi | 11093 |
KEGGi | hsa:11093 |
UCSCi | uc004cdv.6, human [Q76LX8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Wikipedia ADAMTS13 entry |
SeattleSNPs |
Mendelian genes ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13) Leiden Open Variation Database (LOVD) |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB069698 mRNA Translation: BAB69487.2 AY055376 mRNA Translation: AAL17652.1 AF414401 mRNA Translation: AAL11095.1 AJ305314 mRNA Translation: CAC83682.1 AJ420810 mRNA Translation: CAD12729.1 AJ011374 mRNA Translation: CAB66157.1 DQ422807 Genomic DNA Translation: ABD72606.1 AL158826, AL593848 Genomic DNA Translation: CAI12850.1 AL158826, AL593848 Genomic DNA Translation: CAI12851.1 AL158826, AL593848 Genomic DNA Translation: CAI12852.1 CH471090 Genomic DNA Translation: EAW88086.1 AY358118 mRNA Translation: AAQ88485.1 Different initiation. AL136809 mRNA Translation: CAB66743.1 Different initiation. |
CCDSi | CCDS6970.1 [Q76LX8-1] CCDS6971.1 [Q76LX8-3] CCDS6972.1 [Q76LX8-2] |
RefSeqi | NP_620594.1, NM_139025.4 [Q76LX8-1] NP_620595.1, NM_139026.4 [Q76LX8-3] NP_620596.2, NM_139027.4 [Q76LX8-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3GHM | X-ray | 2.60 | A | 287-685 | [»] | |
3GHN | X-ray | 2.80 | A | 287-685 | [»] | |
3VN4 | X-ray | 2.80 | A | 287-685 | [»] | |
6QIG | X-ray | 2.80 | A | 79-682 | [»] | |
SMRi | Q76LX8 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
DIPi | DIP-36050N |
IntActi | Q76LX8, 2 interactors |
STRINGi |