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UniProtKB - Q76LX8 (ATS13_HUMAN)

Entry version 170 (02 Jun 2021)
Sequence version 1 (19 Jul 2004)
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Protein

A disintegrin and metalloproteinase with thrombospondin motifs 13

Gene

ADAMTS13

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.

1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Protein has several cofactor binding sites:

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi83CalciumSequence analysis1
Metal bindingi173CalciumSequence analysis1
Metal bindingi182Calcium; high affinity1 Publication1
Metal bindingi184Calcium; high affinity1 Publication1
Metal bindingi187Calcium; high affinity1 Publication1
Metal bindingi212Calcium; high affinity1 Publication1
Metal bindingi224Zinc; catalyticBy similarity1
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei225PROSITE-ProRule annotation1
Metal bindingi228Zinc; catalyticBy similarity1
Metal bindingi234Zinc; catalyticBy similarity1
Metal bindingi281CalciumSequence analysis1
Metal bindingi284CalciumSequence analysis1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHydrolase, Metalloprotease, Protease
Biological processBlood coagulation, Hemostasis
LigandCalcium, Metal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		3.4.24.87, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q76LX8

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5083635, Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214, O-glycosylation of TSR domain-containing proteins

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q76LX8

Protein family/group databases

MEROPS protease database

More...MEROPSi		M12.241

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ADAMTS13
Synonyms:C9orf8
ORF Names:UNQ6102/PRO20085
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1366, ADAMTS13

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604134, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q76LX8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000160323.18

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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 OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06777079I → M in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875297EnsemblClinVar.1
Natural variantiVAR_02711088V → M in TTP; reduces protein secretion and proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs281875302EnsemblClinVar.1
Natural variantiVAR_02711196H → D in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908467EnsemblClinVar.1
Natural variantiVAR_027112102R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908469EnsemblClinVar.1
Natural variantiVAR_067771119S → F in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875291EnsemblClinVar.1
Natural variantiVAR_067772178I → T in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875289EnsemblClinVar.1
Natural variantiVAR_027113193R → W in TTP; low activity. 2 PublicationsCorresponds to variant dbSNP:rs281875287EnsemblClinVar.1
Natural variantiVAR_027114196T → I in TTP. 3 PublicationsCorresponds to variant dbSNP:rs121908470EnsemblClinVar.1
Natural variantiVAR_067773203S → P in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875298EnsemblClinVar.1
Natural variantiVAR_067774232L → Q in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875292EnsemblClinVar.1
Natural variantiVAR_027115234H → Q in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875304EnsemblClinVar.1
Natural variantiVAR_067775235D → H in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875337EnsemblClinVar.1
Natural variantiVAR_027116250A → V in TTP; mild effect on protein secretion; strong reduction of proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs121908478EnsemblClinVar.1
Natural variantiVAR_067776263S → C in TTP. 2 PublicationsCorresponds to variant dbSNP:rs281875293EnsemblClinVar.1
Natural variantiVAR_027117268R → P in TTP; affects protein secretion. 2 PublicationsCorresponds to variant dbSNP:rs121908477EnsemblClinVar.1
Natural variantiVAR_067777304Y → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875285EnsemblClinVar.1
Natural variantiVAR_067778311C → Y in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875336EnsemblClinVar.1
Natural variantiVAR_067780347C → S in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875294EnsemblClinVar.1
Natural variantiVAR_067781349R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875288EnsemblClinVar.1
Natural variantiVAR_067782353P → L in TTP. 3 PublicationsCorresponds to variant dbSNP:rs281875338EnsemblClinVar.1
Natural variantiVAR_027118390W → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875306EnsemblClinVar.1
Natural variantiVAR_027119398R → H in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908471EnsemblClinVar.1
Natural variantiVAR_067783507R → Q in TTP. 2 PublicationsCorresponds to variant dbSNP:rs281875296EnsemblClinVar.1
Natural variantiVAR_027122508C → Y in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875305EnsemblClinVar.1
Natural variantiVAR_067784525G → D in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875286EnsemblClinVar.1
Natural variantiVAR_027123528R → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908473EnsemblClinVar.1
Natural variantiVAR_067785596A → V in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875299EnsemblClinVar.1
Natural variantiVAR_067786606A → P in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875290EnsemblClinVar.1
Natural variantiVAR_067787658Y → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875335EnsemblClinVar.1
Natural variantiVAR_067788671P → L in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875295EnsemblClinVar.1
Natural variantiVAR_027126673I → F in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875307EnsemblClinVar.1
Natural variantiVAR_027127692R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908475EnsemblClinVar.1
Natural variantiVAR_067789758C → R in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875300EnsemblClinVar.1
Natural variantiVAR_067790908C → S in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875301EnsemblClinVar.1
Natural variantiVAR_027131908C → Y in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875301EnsemblClinVar.1
Natural variantiVAR_027132951C → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908468EnsemblClinVar.1
Natural variantiVAR_067791977 – 979CAR → W in TTP. 1 Publication3
Natural variantiVAR_0271331024C → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908472EnsemblClinVar.1
Natural variantiVAR_0677921060R → W in TTP; affects protein secretion; the mutant protein has reduced protease activity. 3 PublicationsCorresponds to variant dbSNP:rs142572218EnsemblClinVar.1
Natural variantiVAR_0271361123R → C in TTP; impairs protein secretion; the mutant protein has reduced protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875340EnsemblClinVar.1
Natural variantiVAR_0271371213C → Y in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908474EnsemblClinVar.1
Natural variantiVAR_0677931219R → W in TTP; affects protein secretion; the mutant protein has reduced protease activity. 1 PublicationCorresponds to variant dbSNP:rs281875339EnsemblClinVar.1
Natural variantiVAR_0271381239G → V in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875303EnsemblClinVar.1
Natural variantiVAR_0271391336R → W in TTP; impairs protein secretion and proteolytic activity. 2 PublicationsCorresponds to variant dbSNP:rs281875308EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi71R → K: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with D-73. 1 Publication1
Mutagenesisi73R → D: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with K-71. 1 Publication1
Mutagenesisi83E → A: No change in calcium dependence for proteolysis. 1 Publication1
Mutagenesisi173D → A: No change in calcium dependence for proteolysis. 1 Publication1
Mutagenesisi184E → A: Dramatically reduced affinity for calcium. 1 Publication1
Mutagenesisi187D → A: Dramatically reduced affinity for calcium. 1 Publication1
Mutagenesisi212E → A: Dramatically reduced affinity for calcium. 1 Publication1
Mutagenesisi399S → A: No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes secretion of ADAMTS13; when associated with A-698. 1 Publication1
Mutagenesisi698S → A: No effect on cleavage of VWF and greatly reduced secretion of ADAMTS13. Abolishes secretion of ADAMTS13; when associated with A-399. 1 Publication1
Mutagenesisi757S → A: No effect on cleavage of VWF and little change in secretion of ADAMTS13. 1 Publication1
Mutagenesisi907S → 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 Publication1
Mutagenesisi965S → 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 Publication1
Mutagenesisi1027S → 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 Publication1
Mutagenesisi1087S → 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 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		11093

MalaCards human disease database

More...MalaCardsi		ADAMTS13
MIMi274150, phenotype

Open Targets

More...OpenTargetsi		ENSG00000160323

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		93583, Congenital thrombotic thrombocytopenic purpura

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24539

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q76LX8, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2346492

Drug and drug target database

More...DrugBanki		DB13133, Von Willebrand Factor Human
DB12872, Vonicog Alfa

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ADAMTS13

Domain mapping of disease mutations (DMDM)

More...DMDMi		74749836

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 29Sequence analysisAdd BLAST29
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000024751030 – 743 PublicationsAdd BLAST45
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000024751175 – 1427A disintegrin and metalloproteinase with thrombospondin motifs 13Add BLAST1353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi142N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi146N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi155 ↔ 208By similarity
Disulfide bondi202 ↔ 281By similarity
Disulfide bondi242 ↔ 265By similarity
Disulfide bondi311 ↔ 337Combined sources1 Publication
Disulfide bondi322 ↔ 347Combined sources1 Publication
Disulfide bondi332 ↔ 366Combined sources1 Publication
Disulfide bondi360 ↔ 371Combined sources1 Publication
Glycosylationi387C-linked (Man) tryptophanCombined sources1
Disulfide bondi396 ↔ 433Combined sources1 Publication
Glycosylationi399O-linked (Fuc...) serineCombined sources1
Disulfide bondi400 ↔ 438Combined sources1 Publication
Disulfide bondi411 ↔ 423Combined sources1 Publication
Disulfide bondi450 ↔ 487Combined sources
Disulfide bondi483 ↔ 522Combined sources1 Publication
Disulfide bondi508 ↔ 527Combined sources1 Publication
Disulfide bondi532 ↔ 548Combined sources1 Publication
Disulfide bondi545 ↔ 555Combined sources1 Publication
Glycosylationi552N-linked (GlcNAc...) asparagineCombined sources1 Publication1
Glycosylationi579N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi614N-linked (GlcNAc...) asparagineCombined sources2 Publications1
Glycosylationi667N-linked (GlcNAc...) (complex) asparagine2 Publications1
Glycosylationi698O-linked (Fuc...) serine1 Publication1
Glycosylationi707N-linked (GlcNAc...) (complex) asparagine1 Publication1
Glycosylationi757O-linked (Fuc...) serine1 Publication1
Glycosylationi828N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi907O-linked (Fuc...) serine1 Publication1
Glycosylationi965O-linked (Fuc...) serine1 Publication1
Glycosylationi1027O-linked (Fuc...) serine1 Publication1
Glycosylationi1087O-linked (Fuc...) serine1 Publication1
Glycosylationi1235N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1354N-linked (GlcNAc...) asparagine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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, Zymogen

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q76LX8

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q76LX8

PeptideAtlas

More...PeptideAtlasi		Q76LX8

PRoteomics IDEntifications database

More...PRIDEi		Q76LX8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68682 [Q76LX8-1]
68683 [Q76LX8-2]
68684 [Q76LX8-3]
84255

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		637, 10 N-Linked glycans (5 sites), 1 O-Linked glycan (3 sites)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q76LX8, 27 sites, 3 O-linked glycans (8 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q76LX8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q76LX8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Plasma. Expressed primarily in liver.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000160323, Expressed in right lobe of liver and 143 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q76LX8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q76LX8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000160323, Tissue enriched (liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

Database of interacting proteins

More...DIPi		DIP-36050N

Protein interaction database and analysis system

More...IntActi		Q76LX8, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000360997

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q76LX8

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q76LX8, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11427
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q76LX8

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q76LX8

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini80 – 286Peptidase M12BPROSITE-ProRule annotationAdd BLAST207
Domaini287 – 383DisintegrinAdd BLAST97
Domaini384 – 439TSP type-1 1PROSITE-ProRule annotationAdd BLAST56
Domaini682 – 730TSP type-1 2PROSITE-ProRule annotationAdd BLAST49
Domaini742 – 805TSP type-1 3PROSITE-ProRule annotationAdd BLAST64
Domaini808 – 859TSP type-1 4PROSITE-ProRule annotationAdd BLAST52
Domaini896 – 950TSP type-1 5PROSITE-ProRule annotationAdd BLAST55
Domaini951 – 1011TSP type-1 6PROSITE-ProRule annotationAdd BLAST61
Domaini1012 – 1068TSP type-1 7PROSITE-ProRule annotationAdd BLAST57
Domaini1072 – 1131TSP type-1 8PROSITE-ProRule annotationAdd BLAST60
Domaini1192 – 1298CUB 1Add BLAST107
Domaini1299 – 1427CUB 2Add BLAST129

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni51 – 70DisorderedSequence analysisAdd BLAST20
Regioni440 – 556Cysteine-richAdd BLAST117
Regioni556 – 685SpacerAdd BLAST130

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi498 – 500Cell attachment siteSequence analysis3

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>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, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3538, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158379

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000660_10_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q76LX8

Identification of Orthologs from Complete Genome Data

More...OMAi		LRSVCEW

Database of Orthologous Groups

More...OrthoDBi		125522at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q76LX8

TreeFam database of animal gene trees

More...TreeFami		TF313537

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.20.100.10, 5 hits
3.40.390.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF17771, ADAM_CR_2, 1 hit
PF01421, Reprolysin, 1 hit
PF00090, TSP_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01857, ADAMTSFAMILY

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00608, ACR, 1 hit
SM00209, TSP1, 7 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49854, SSF49854, 2 hits
SSF82895, SSF82895, 5 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50215, ADAM_MEPRO, 1 hit
PS50092, TSP1, 4 hits
PS00142, ZINC_PROTEASE, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
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
Length:1,427
Mass (Da):153,604
Last modified:July 19, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA2103AFABC1A4445
GO
Isoform 2 (identifier: Q76LX8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1135-1190: Missing.

Show »
Length:1,371
Mass (Da):147,804
Checksum:iAE4C713AE5B64DFC
GO
Isoform 3 (identifier: Q76LX8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     275-305: Missing.
     1135-1190: Missing.

Show »
Length:1,340
Mass (Da):144,517
Checksum:i0BFBEF4C3D58B2C2
GO
Isoform 4 (identifier: Q76LX8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2-329: Missing.
     658-692: YRRYGEEYGNLTRPDITFTYFQPKPRQAWVWAAVR → GGVRAQLMHISWWSRPGLGERDLCARGRWPGGSSD
     693-1427: Missing.

Show »
Length:364
Mass (Da):39,864
Checksum:iDA42FC5F5345F3A0
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6V803F6V803_HUMAN
A disintegrin and metalloproteinase...
ADAMTS13
276Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0B4J229A0A0B4J229_HUMAN
A disintegrin and metalloproteinase...
ADAMTS13
344Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EV88E7EV88_HUMAN
A disintegrin and metalloproteinase...
ADAMTS13
444Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DFV8A0A0C4DFV8_HUMAN
A disintegrin and metalloproteinase...
ADAMTS13
223Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti101E → R AA sequence (PubMed:11574066).Curated1

<p>This subsection of the 'Sequence' section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement%5Fin%5Fdisease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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 keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0271097R → W Does not affect protein secretion. 3 PublicationsCorresponds to variant dbSNP:rs34024143EnsemblClinVar.1
Natural variantiVAR_06777079I → M in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875297EnsemblClinVar.1
Natural variantiVAR_02711088V → M in TTP; reduces protein secretion and proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs281875302EnsemblClinVar.1
Natural variantiVAR_02711196H → D in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908467EnsemblClinVar.1
Natural variantiVAR_027112102R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908469EnsemblClinVar.1
Natural variantiVAR_067771119S → F in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875291EnsemblClinVar.1
Natural variantiVAR_067772178I → T in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875289EnsemblClinVar.1
Natural variantiVAR_027113193R → W in TTP; low activity. 2 PublicationsCorresponds to variant dbSNP:rs281875287EnsemblClinVar.1
Natural variantiVAR_027114196T → I in TTP. 3 PublicationsCorresponds to variant dbSNP:rs121908470EnsemblClinVar.1
Natural variantiVAR_067773203S → P in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875298EnsemblClinVar.1
Natural variantiVAR_067774232L → Q in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875292EnsemblClinVar.1
Natural variantiVAR_027115234H → Q in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875304EnsemblClinVar.1
Natural variantiVAR_067775235D → H in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875337EnsemblClinVar.1
Natural variantiVAR_027116250A → V in TTP; mild effect on protein secretion; strong reduction of proteolytic activity. 1 PublicationCorresponds to variant dbSNP:rs121908478EnsemblClinVar.1
Natural variantiVAR_067776263S → C in TTP. 2 PublicationsCorresponds to variant dbSNP:rs281875293EnsemblClinVar.1
Natural variantiVAR_027117268R → P in TTP; affects protein secretion. 2 PublicationsCorresponds to variant dbSNP:rs121908477EnsemblClinVar.1
Natural variantiVAR_067777304Y → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875285EnsemblClinVar.1
Natural variantiVAR_067778311C → Y in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875336EnsemblClinVar.1
Natural variantiVAR_067779339T → R1 PublicationCorresponds to variant dbSNP:rs149517360EnsemblClinVar.1
Natural variantiVAR_067780347C → S in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875294EnsemblClinVar.1
Natural variantiVAR_067781349R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875288EnsemblClinVar.1
Natural variantiVAR_067782353P → L in TTP. 3 PublicationsCorresponds to variant dbSNP:rs281875338EnsemblClinVar.1
Natural variantiVAR_027118390W → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875306EnsemblClinVar.1
Natural variantiVAR_027119398R → H in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908471EnsemblClinVar.1
Natural variantiVAR_027120448Q → E Does not affect protein secretion; normal proteolytic activity. 9 PublicationsCorresponds to variant dbSNP:rs2301612EnsemblClinVar.1
Natural variantiVAR_027162456Q → H1 PublicationCorresponds to variant dbSNP:rs36220239EnsemblClinVar.1
Natural variantiVAR_027163457P → L2 PublicationsCorresponds to variant dbSNP:rs36220240EnsemblClinVar.1
Natural variantiVAR_027121475P → S1 PublicationCorresponds to variant dbSNP:rs11575933EnsemblClinVar.1
Natural variantiVAR_067783507R → Q in TTP. 2 PublicationsCorresponds to variant dbSNP:rs281875296EnsemblClinVar.1
Natural variantiVAR_027122508C → Y in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875305EnsemblClinVar.1
Natural variantiVAR_067784525G → D in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875286EnsemblClinVar.1
Natural variantiVAR_027123528R → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908473EnsemblClinVar.1
Natural variantiVAR_067785596A → V in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875299EnsemblClinVar.1
Natural variantiVAR_067786606A → P in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875290EnsemblClinVar.1
Natural variantiVAR_027124618P → A4 PublicationsCorresponds to variant dbSNP:rs28647808EnsemblClinVar.1
Natural variantiVAR_027125625R → H2 PublicationsCorresponds to variant dbSNP:rs36090624EnsemblClinVar.1
Natural variantiVAR_067787658Y → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875335EnsemblClinVar.1
Natural variantiVAR_067788671P → L in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875295EnsemblClinVar.1
Natural variantiVAR_027126673I → F in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875307EnsemblClinVar.1
Natural variantiVAR_027127692R → C in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908475EnsemblClinVar.1
Natural variantiVAR_027128732A → V3 PublicationsCorresponds to variant dbSNP:rs41314453EnsemblClinVar.1
Natural variantiVAR_027164740E → K1 PublicationCorresponds to variant dbSNP:rs36221451EnsemblClinVar.1
Natural variantiVAR_067789758C → R in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875300EnsemblClinVar.1
Natural variantiVAR_027129900A → V3 PublicationsCorresponds to variant dbSNP:rs685523EnsemblClinVar.1
Natural variantiVAR_027130903S → L2 PublicationsCorresponds to variant dbSNP:rs78977446EnsemblClinVar.1
Natural variantiVAR_067790908C → S in TTP. 1 PublicationCorresponds to variant dbSNP:rs281875301EnsemblClinVar.1
Natural variantiVAR_027131908C → Y in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875301EnsemblClinVar.1
Natural variantiVAR_027132951C → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908468EnsemblClinVar.1
Natural variantiVAR_067791977 – 979CAR → W in TTP. 1 Publication3
Natural variantiVAR_027165982G → R1 PublicationCorresponds to variant dbSNP:rs36222275Ensembl.1
Natural variantiVAR_0271331024C → G in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908472EnsemblClinVar.1
Natural variantiVAR_0271341033A → T2 PublicationsCorresponds to variant dbSNP:rs28503257EnsemblClinVar.1
Natural variantiVAR_0677921060R → W in TTP; affects protein secretion; the mutant protein has reduced protease activity. 3 PublicationsCorresponds to variant dbSNP:rs142572218EnsemblClinVar.1
Natural variantiVAR_0271351095R → W in a patient with thrombotic thrombocytopenic purpura. 1 PublicationCorresponds to variant dbSNP:rs782383410Ensembl.1
Natural variantiVAR_0271361123R → C in TTP; impairs protein secretion; the mutant protein has reduced protease activity. 2 PublicationsCorresponds to variant dbSNP:rs281875340EnsemblClinVar.1
Natural variantiVAR_0271371213C → Y in TTP. 1 PublicationCorresponds to variant dbSNP:rs121908474EnsemblClinVar.1
Natural variantiVAR_0677931219R → W in TTP; affects protein secretion; the mutant protein has reduced protease activity. 1 PublicationCorresponds to variant dbSNP:rs281875339EnsemblClinVar.1
Natural variantiVAR_0271661226T → I1 PublicationCorresponds to variant dbSNP:rs36222894EnsemblClinVar.1
Natural variantiVAR_0271381239G → V in TTP; impairs protein secretion. 1 PublicationCorresponds to variant dbSNP:rs281875303EnsemblClinVar.1
Natural variantiVAR_0677941314S → L Found in a patient with hemolytic uremic syndrome. 1 PublicationCorresponds to variant dbSNP:rs142060916EnsemblClinVar.1
Natural variantiVAR_0271391336R → W in TTP; impairs protein secretion and proteolytic activity. 2 PublicationsCorresponds to variant dbSNP:rs281875308EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0555372 – 329Missing in isoform 4. 1 PublicationAdd BLAST328
Alternative sequenceiVSP_020002275 – 305Missing in isoform 3. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_055538658 – 692YRRYG…WAAVR → GGVRAQLMHISWWSRPGLGE RDLCARGRWPGGSSD in isoform 4. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_055539693 – 1427Missing in isoform 4. 1 PublicationAdd BLAST735
Alternative sequenceiVSP_0200031135 – 1190Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST56

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6970.1 [Q76LX8-1]
CCDS6971.1 [Q76LX8-3]
CCDS6972.1 [Q76LX8-2]

NCBI Reference Sequences

More...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

Ensembl eukaryotic genome annotation project

More...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]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		11093

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:11093

UCSC genome browser

More...UCSCi		uc004cdv.6, human [Q76LX8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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.
CCDSiCCDS6970.1 [Q76LX8-1]
CCDS6971.1 [Q76LX8-3]
CCDS6972.1 [Q76LX8-2]
RefSeqiNP_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:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3GHMX-ray2.60A287-685[»]
3GHNX-ray2.80A287-685[»]
3VN4X-ray2.80A287-685[»]
6QIGX-ray2.80A79-682[»]
SMRiQ76LX8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

DIPiDIP-36050N
IntActiQ76LX8, 2 interactors
STRINGi9606.ENSP00000360997

Chemistry databases

BindingDBiQ76LX8
ChEMBLiCHEMBL2346492
DrugBankiDB13133, Von Willebrand Factor Human
DB12872, Vonicog Alfa

Protein family/group databases

MEROPSiM12.241

PTM databases

GlyConnecti637, 10 N-Linked glycans (5 sites), 1 O-Linked glycan (3 sites)
GlyGeniQ76LX8, 27 sites, 3 O-linked glycans (8 sites)
iPTMnetiQ76LX8
PhosphoSitePlusiQ76LX8

Genetic variation databases

BioMutaiADAMTS13
DMDMi74749836

Proteomic databases

MassIVEiQ76LX8
PaxDbiQ76LX8
PeptideAtlasiQ76LX8
PRIDEiQ76LX8
ProteomicsDBi68682 [Q76LX8-1]
68683 [Q76LX8-2]
68684 [Q76LX8-3]
84255

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		Q76LX8, 61 sequenced antibodies

Antibodypedia a portal for validated antibodies

More...Antibodypediai		31871, 514 antibodies

The DNASU plasmid repository

More...DNASUi		11093

Genome annotation databases

EnsembliENST00000355699; 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]
GeneIDi11093
KEGGihsa:11093
UCSCiuc004cdv.6, human [Q76LX8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		11093
DisGeNETi11093

GeneCards: human genes, protein and diseases

More...GeneCardsi		ADAMTS13
HGNCiHGNC:1366, ADAMTS13
HPAiENSG00000160323, Tissue enriched (liver)
MalaCardsiADAMTS13
MIMi274150, phenotype
604134, gene
neXtProtiNX_Q76LX8
OpenTargetsiENSG00000160323
Orphaneti93583, Congenital thrombotic thrombocytopenic purpura
PharmGKBiPA24539
VEuPathDBiHostDB:ENSG00000160323.18

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3538, Eukaryota
GeneTreeiENSGT00940000158379
HOGENOMiCLU_000660_10_1_1
InParanoidiQ76LX8
OMAiLRSVCEW
OrthoDBi125522at2759
PhylomeDBiQ76LX8
TreeFamiTF313537

Enzyme and pathway databases

BRENDAi3.4.24.87, 2681
PathwayCommonsiQ76LX8
ReactomeiR-HSA-5083635, Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214, O-glycosylation of TSR domain-containing proteins
SIGNORiQ76LX8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		11093, 3 hits in 989 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ADAMTS13, human
EvolutionaryTraceiQ76LX8

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ADAMTS13

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		11093
PharosiQ76LX8, Tbio

Protein Ontology

More...PROi		PR:Q76LX8
RNActiQ76LX8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000160323, Expressed in right lobe of liver and 143 other tissues
ExpressionAtlasiQ76LX8, baseline and differential
GenevisibleiQ76LX8, HS

Family and domain databases

Gene3Di2.20.100.10, 5 hits
3.40.390.10, 1 hit
InterProiView 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
PfamiView protein in Pfam
PF17771, ADAM_CR_2, 1 hit
PF01421, Reprolysin, 1 hit
PF00090, TSP_1, 1 hit
PRINTSiPR01857, ADAMTSFAMILY
SMARTiView protein in SMART
SM00608, ACR, 1 hit
SM00209, TSP1, 7 hits
SUPFAMiSSF49854, SSF49854, 2 hits
SSF82895, SSF82895, 5 hits
PROSITEiView protein in PROSITE
PS50215, ADAM_MEPRO, 1 hit
PS50092, TSP1, 4 hits
PS00142, ZINC_PROTEASE, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiATS13_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q76LX8
Secondary accession number(s): Q6UY16
, Q710F6, Q711T8, Q96L37, Q9H0G3, Q9UGQ1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: July 19, 2004
Last modified: June 2, 2021
This is version 170 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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