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Aliases for ADAMTS13 Gene

Aliases for ADAMTS13 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 13 2 3
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 13 2 3
  • Von Willebrand Factor-Cleaving Protease 3 4
  • VWF-Cleaving Protease 3 4
  • ADAM-TS13 3 4
  • ADAMTS-13 3 4
  • C9orf8 3 4
  • VWF-CP 3 4
  • VWFCP 3 6
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 13 3
  • EC 63
  • EC 63
  • EC 4
  • ADAM-TS 13 4
  • TTP 6

External Ids for ADAMTS13 Gene

Previous Symbols for ADAMTS13 Gene

  • C9orf8

Summaries for ADAMTS13 Gene

Entrez Gene Summary for ADAMTS13 Gene

  • This gene encodes a member of a family of proteins containing several distinct regions, including a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. The enzyme encoded by this gene specifically cleaves von Willebrand Factor (vWF). Defects in this gene are associated with thrombotic thrombocytopenic purpura. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for ADAMTS13 Gene

ADAMTS13 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 13) is a Protein Coding gene. Diseases associated with ADAMTS13 include thrombotic thrombocytopenic purpura and thrombotic thrombocytopenic purpura, familial. GO annotations related to this gene include calcium ion binding and integrin binding. An important paralog of this gene is ADAMTSL1.

UniProtKB/Swiss-Prot for ADAMTS13 Gene

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

Gene Wiki entry for ADAMTS13 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS13 Gene

Genomics for ADAMTS13 Gene

Genomic Location for ADAMTS13 Gene

133,414,339 bp from pter
133,459,403 bp from pter
45,065 bases
Plus strand

Genomic View for ADAMTS13 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ADAMTS13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS13 Gene

Regulatory Elements for ADAMTS13 Gene

Proteins for ADAMTS13 Gene

  • Protein details for ADAMTS13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 13
    Protein Accession:
    Secondary Accessions:
    • Q6UY16
    • Q710F6
    • Q711T8
    • Q96L37
    • Q9H0G3
    • Q9UGQ1

    Protein attributes for ADAMTS13 Gene

    1427 amino acids
    Molecular mass:
    153604 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 4 Ca(2+) ions.;
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available
    • Sequence=AAQ88485.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAB66743.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADAMTS13 Gene

    Alternative splice isoforms for ADAMTS13 Gene


neXtProt entry for ADAMTS13 Gene

Proteomics data for ADAMTS13 Gene at MOPED

Selected DME Specific Peptides for ADAMTS13 Gene

Post-translational modifications for ADAMTS13 Gene

  • Glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(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.
  • The precursor is processed by a furin endopeptidase which cleaves off the pro-domain
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn142, Asn146, Asn552, Asn579, Asn614, Asn667, Ser698, Asn707, Ser757, Asn828, Ser907, Ser965, Ser1027, Ser1087, Asn1235, and Asn1354

Other Protein References for ADAMTS13 Gene

Domains for ADAMTS13 Gene

Gene Families for ADAMTS13 Gene

  • ADAMTS :ADAM metallopeptidases with thrombospondin type 1 motif

Graphical View of Domain Structure for InterPro Entry



  • The pro-domain is not required for folding or secretion and does not perform the common function of maintening enzyme latency:
    • Q76LX8
  • 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:
    • Q76LX8
  • Contains 2 CUB domains.:
    • Q76LX8
  • Contains 1 disintegrin domain.:
    • Q76LX8
  • Contains 1 peptidase M12B domain.:
    • Q76LX8
  • Contains 8 TSP type-1 domains.:
    • Q76LX8
genes like me logo Genes that share domains with ADAMTS13: view

Function for ADAMTS13 Gene

Molecular function for ADAMTS13 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Cleaves the vWF at the 842-Tyr- -Met-843 in the A2 domain of the vWF subunit
UniProtKB/Swiss-Prot CatalyticActivity: The enzyme cleaves the von Willebrand factor at bond Tyr(842)- -Met(843) within the A2 domain
UniProtKB/Swiss-Prot EnzymeRegulation: 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.
UniProtKB/Swiss-Prot Function: Cleaves the vWF multimers in plasma into smaller forms thereby controlling vWF-mediated platelet thrombus formation.

Enzyme Numbers (IUBMB) for ADAMTS13 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 endopeptidase activity --
GO:0004222 metalloendopeptidase activity IEA --
GO:0005178 integrin binding TAS 11557746
GO:0005509 calcium ion binding TAS 11557746
GO:0005515 protein binding IPI 12775718
genes like me logo Genes that share ontologies with ADAMTS13: view
genes like me logo Genes that share phenotypes with ADAMTS13: view

Animal Models for ADAMTS13 Gene

MGI Knock Outs for ADAMTS13:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for ADAMTS13 Gene

Localization for ADAMTS13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS13 Gene

Secreted. Note=Secretion enhanced by O-fucosylation of TSP type-1 repeats.

Subcellular locations from

Jensen Localization Image for ADAMTS13 Gene COMPARTMENTS Subcellular localization image for ADAMTS13 gene
Compartment Confidence
extracellular 5
plasma membrane 3
lysosome 1

Gene Ontology (GO) - Cellular Components for ADAMTS13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix TAS 11557746
GO:0005615 extracellular space IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0009986 cell surface NAS 11557746
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with ADAMTS13: view

Pathways for ADAMTS13 Gene

SuperPathways for ADAMTS13 Gene

No Data Available

Interacting Proteins for ADAMTS13 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: ENSP00000360997 Q76LX8-ATS13_HUMAN for ADAMTS13 Gene via STRING UniProtKB I2D

Gene Ontology (GO) - Biological Process for ADAMTS13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006493 protein O-linked glycosylation TAS --
GO:0006508 proteolysis IDA 11535495
GO:0007160 cell-matrix adhesion NAS 11557746
GO:0007229 integrin-mediated signaling pathway NAS 11557746
GO:0009100 glycoprotein metabolic process NAS 11557746
genes like me logo Genes that share ontologies with ADAMTS13: view

No data available for Pathways by source for ADAMTS13 Gene

Compounds for ADAMTS13 Gene

(1) HMDB Compounds for ADAMTS13 Gene

Compound Synonyms Cas Number PubMed IDs
  • Ca

(19) Novoseek inferred chemical compound relationships for ADAMTS13 Gene

Compound -log(P) Hits PubMed IDs
ristocetin 68.5 8
rituximab 64.1 11
ticlopidine 56.1 5
vincristine 28.2 3
cyclosporin a 20.4 5
genes like me logo Genes that share compounds with ADAMTS13: view

Transcripts for ADAMTS13 Gene

Unigene Clusters for ADAMTS13 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 13:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS13 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - -
SP8: -
SP9: - - - -

ExUns: 21a · 21b · 21c ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b
SP1: - -
SP2: - - -
SP3: - - -

Relevant External Links for ADAMTS13 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ADAMTS13 Gene

mRNA expression in normal human tissues for ADAMTS13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADAMTS13 Gene

This gene is overexpressed in Liver (7.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for ADAMTS13 Gene

SOURCE GeneReport for Unigene cluster for ADAMTS13 Gene Hs.131433

mRNA Expression by UniProt/SwissProt for ADAMTS13 Gene

Tissue specificity: Plasma. Expressed primarily in liver.
genes like me logo Genes that share expressions with ADAMTS13: view

Orthologs for ADAMTS13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTS13 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ADAMTS13 35
  • 98.94 (n)
  • 98.62 (a)
  • 98 (a)
(Bos Taurus)
Mammalia ADAMTS13 35
  • 77.88 (n)
  • 72.03 (a)
  • 72 (a)
(Canis familiaris)
Mammalia ADAMTS13 35
  • 79.89 (n)
  • 74.49 (a)
  • 67 (a)
(Mus musculus)
Mammalia Adamts13 35
  • 76.64 (n)
  • 71.65 (a)
Adamts13 16
Adamts13 36
  • 70 (a)
(Monodelphis domestica)
Mammalia ADAMTS13 36
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia ADAMTS13 36
  • 59 (a)
(Rattus norvegicus)
Mammalia LOC102554393 35
  • 76.32 (n)
  • 70.55 (a)
(Gallus gallus)
Aves ADAMTS13 35
  • 61.96 (n)
  • 57.53 (a)
  • 49 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 20 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts13 35
  • 54.12 (n)
  • 48.3 (a)
(Danio rerio)
Actinopterygii adamts13 35
  • 50.35 (n)
  • 43.27 (a)
adamts13 36
  • 41 (a)
Species with no ortholog for ADAMTS13:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ADAMTS13 Gene

Gene Tree for ADAMTS13 (if available)
Gene Tree for ADAMTS13 (if available)

Paralogs for ADAMTS13 Gene Pseudogenes for ADAMTS13 Gene

genes like me logo Genes that share paralogs with ADAMTS13: view

Variants for ADAMTS13 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS13 Gene

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

Sequence variations from dbSNP and Humsavar for ADAMTS13 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs592514 -- 133,444,720(+) GAAGC(A/T)CAGGG intron-variant
rs602184 -- 133,442,287(-) TTTCG(C/T)TCAGC intron-variant
rs603551 -- 133,441,968(-) TTACA(C/T)GATAG intron-variant
rs606492 -- 133,437,330(-) acagt(A/G)agctg intron-variant
rs622620 -- 133,436,096(-) ctcac(A/G)cgtgt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS13 Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
dgv8325n71 CNV Loss 21882294
nsv894080 CNV Loss 21882294
nsv894081 CNV Loss 21882294
nsv894082 CNV Loss 21882294
dgv8328n71 CNV Loss 21882294
nsv894086 CNV Gain 21882294
nsv894087 CNV Gain 21882294
dgv8329n71 CNV Loss 21882294
nsv894090 CNV Loss 21882294
esv26825 CNV Loss 19812545
nsv894091 CNV Loss 21882294
nsv894094 CNV Loss 21882294
nsv894095 CNV Loss 21882294
nsv894096 CNV Loss 21882294

Relevant External Links for ADAMTS13 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for ADAMTS13 Gene

(1) OMIM Diseases for ADAMTS13 Gene (604134)


  • Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]: A hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. recessive. {ECO:0000269 PubMed:11586351, ECO:0000269 PubMed:12181489, ECO:0000269 PubMed:12393505, ECO:0000269 PubMed:12614216, ECO:0000269 PubMed:12753286, ECO:0000269 PubMed:14512317, ECO:0000269 PubMed:14563640, ECO:0000269 PubMed:15009458, ECO:0000269 PubMed:15126318, ECO:0000269 PubMed:15327386, ECO:0000269 PubMed:16449289, ECO:0000269 PubMed:16453338, ECO:0000269 PubMed:16796708, ECO:0000269 PubMed:16807643, ECO:0000269 PubMed:17003922, ECO:0000269 PubMed:18443791, ECO:0000269 PubMed:19055667, ECO:0000269 PubMed:19116307, ECO:0000269 PubMed:22075512}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(53) Novoseek inferred disease relationships for ADAMTS13 Gene

Disease -log(P) Hits PubMed IDs
purpura thrombotic thrombocytopenic 97.9 156
idiopathic thrombotic thrombocytopenic purpura 94.5 12
anemia hemolytic microangiopathic 89.1 3
uremic syndrome 85 9
thrombocytopenia 82.7 29

Relevant External Links for ADAMTS13

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ADAMTS13: view

Publications for ADAMTS13 Gene

  1. Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura. (PMID: 11557746) Zheng X. … Fujikawa K. (J. Biol. Chem. 2001) 2 3 4 23
  2. Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13. (PMID: 14512317) Pimanda J.E. … Hogg P.J. (Blood 2004) 3 4 23 48
  3. Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome. (PMID: 14563640) Matsumoto M. … Fujimura Y. (Blood 2004) 3 4 23
  4. Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome). (PMID: 15009458) Veyradier A. … Girma J.P. (J. Thromb. Haemost. 2004) 3 4 23
  5. Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura. (PMID: 15126318) Uchida T. … Murata M. (Blood 2004) 3 4 23

Products for ADAMTS13 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Extracellular Matrix & Adhesion Molecules in human,mouse,rat
  • QIAGEN qRT-PCR Assays for microRNAs that regulate ADAMTS13
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for ADAMTS13
    • Block miRNA regulation of ADAMTS13 using miScript Target Protectors

    Sources for ADAMTS13 Gene

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