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Aliases for ADAMTS13 Gene

Aliases for ADAMTS13 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 13 2 3 5
  • 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
  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 13 3
  • EC 3.4.24.14 63
  • EC 3.4.24.82 63
  • EC 3.4.24.87 4
  • ADAM-TS 13 4
  • VWFCP 3

External Ids for ADAMTS13 Gene

Previous HGNC Symbols for ADAMTS13 Gene

  • C9orf8

Previous GeneCards Identifiers for ADAMTS13 Gene

  • GC09P127376
  • GC09P127843
  • GC09P129634
  • GC09P131563
  • GC09P133316
  • GC09P135276
  • GC09P136279
  • GC09P105781

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, familial and thrombocytopenic purpura, autoimmune. Among its related pathways are O-linked glycosylation and Transport to the Golgi and subsequent modification. GO annotations related to this gene include calcium ion binding and metalloendopeptidase activity. 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

Regulatory Elements for ADAMTS13 Gene

Genomic Location for ADAMTS13 Gene

Chromosome:
9
Start:
133,414,339 bp from pter
End:
133,459,403 bp from pter
Size:
45,065 bases
Orientation:
Plus strand

Genomic View for ADAMTS13 Gene

Genes around ADAMTS13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS13 Gene

Proteins for ADAMTS13 Gene

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

    Protein Symbol:
    Q76LX8-ATS13_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 13
    Protein Accession:
    Q76LX8
    Secondary Accessions:
    • Q6UY16
    • Q710F6
    • Q711T8
    • Q96L37
    • Q9H0G3
    • Q9UGQ1

    Protein attributes for ADAMTS13 Gene

    Size:
    1427 amino acids
    Molecular mass:
    153604 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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.
  • Glycosylation at Asn 142, Asn 146, Trp 387, Ser 399, Asn 552, Asn 579, Asn 614, Asn 667, Ser 698, Asn 707, Ser 757, Asn 828, Ser 907, Ser 965, Ser 1027, Ser 1087, Asn 1235, and Asn 1354
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for ADAMTS13 Gene

Gene Families for ADAMTS13 Gene

Graphical View of Domain Structure for InterPro Entry

Q76LX8

UniProtKB/Swiss-Prot:

ATS13_HUMAN :
  • The pro-domain is not required for folding or secretion and does not perform the common function of maintening enzyme latency.
Domain:
  • 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.
  • Contains 2 CUB domains.
  • Contains 1 disintegrin domain.
  • Contains 1 peptidase M12B domain.
  • Contains 8 TSP type-1 domains.
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:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS13: view
genes like me logo Genes that share phenotypes with ADAMTS13: view

Human Phenotype Ontology for ADAMTS13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADAMTS13 Gene

MGI Knock Outs for ADAMTS13:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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

COMPARTMENTS
Jensen Localization Image for ADAMTS13 Gene COMPARTMENTS Subcellular localization image for ADAMTS13 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
plasma membrane 3
cytosol 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ADAMTS13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IEA,TAS 11557746
genes like me logo Genes that share ontologies with ADAMTS13: view

Pathways & Interactions for ADAMTS13 Gene

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

Pathways by source for ADAMTS13 Gene

Interacting Proteins for ADAMTS13 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000360997%0d%0a9606.ENSP00000261405%0d%0a
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:0006508 proteolysis IEA,IDA 11535495
GO:0007160 cell-matrix adhesion NAS 11557746
GO:0007229 integrin-mediated signaling pathway NAS 11557746
GO:0009636 response to toxic substance IEA --
GO:0016485 protein processing TAS 11557746
genes like me logo Genes that share ontologies with ADAMTS13: view

No data available for SIGNOR curated interactions for ADAMTS13 Gene

Drugs & Compounds for ADAMTS13 Gene

(13) Drugs for ADAMTS13 Gene - From: Novoseek, ClinicalTrials, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
rituximab Approved Pharma Therapeutic Antibodies 1582
calcium Nutra 0
Antirheumatic Agents Pharma 8496
Immunologic Factors Pharma 18483

(8) Additional Compounds for ADAMTS13 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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: - - - - -
SP7:
SP8: -
SP9: - - - -
SP10:

ExUns: 21a · 21b · 21c ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for ADAMTS13 Gene

GeneLoc Exon Structure for
ADAMTS13
ECgene alternative splicing isoforms for
ADAMTS13

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 (x7.2).

Protein differential expression in normal tissues from HIPED for ADAMTS13 Gene

This gene is overexpressed in Serum (59.8) and Plasma (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

Q76LX8-ATS13_HUMAN
Tissue specificity: Plasma. Expressed primarily in liver.
genes like me logo Genes that share expression patterns with ADAMTS13: view

Protein tissue co-expression partners for ADAMTS13 Gene

Primer Products

In Situ Assay Products

Orthologs for ADAMTS13 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTS13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS13 35
  • 98.94 (n)
  • 98.62 (a)
ADAMTS13 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ADAMTS13 36
  • 72 (a)
OneToOne
ADAMTS13 35
  • 77.88 (n)
  • 72.03 (a)
dog
(Canis familiaris)
Mammalia ADAMTS13 35
  • 79.89 (n)
  • 74.49 (a)
ADAMTS13 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adamts13 16
Adamts13 36
  • 70 (a)
OneToOne
Adamts13 35
  • 76.64 (n)
  • 71.65 (a)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS13 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS13 36
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC102554393 35
  • 76.32 (n)
  • 70.55 (a)
chicken
(Gallus gallus)
Aves ADAMTS13 35
  • 61.96 (n)
  • 57.53 (a)
ADAMTS13 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 20 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts13 35
  • 54.12 (n)
  • 48.3 (a)
zebrafish
(Danio rerio)
Actinopterygii adamts13 36
  • 41 (a)
OneToOne
adamts13 35
  • 50.35 (n)
  • 43.27 (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

ENSEMBL:
Gene Tree for ADAMTS13 (if available)
TreeFam:
Gene Tree for ADAMTS13 (if available)

Paralogs for ADAMTS13 Gene

Paralogs for ADAMTS13 Gene

Pseudogenes.org 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

Q76LX8-ATS13_HUMAN
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
rs34024143 - 133,422,462(+) ACCCC(C/G/T)GGGCA intron-variant, reference, missense
rs281875302 Thrombotic thrombocytopenic purpura congenital (TTP) 133,424,410(+) TGGCC(A/G)TGGGC nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs121908467 Thrombotic thrombocytopenic purpura congenital (TTP) 133,424,434(+) AGGCT(C/G)ACCAG nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs121908469 Thrombotic thrombocytopenic purpura congenital (TTP) 133,424,452(+) CAGAG(C/T)GCTAT nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs281875287 Thrombotic thrombocytopenic purpura congenital (TTP) 133,426,236(+) AGGTG(C/T)GGGGC nc-transcript-variant, upstream-variant-2KB, reference, missense

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

Variation tolerance for ADAMTS13 Gene

Residual Variation Intolerance Score: 95.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.78; 86.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS13 Gene

HapMap Linkage Disequilibrium report
ADAMTS13
Human Gene Mutation Database (HGMD)
ADAMTS13

Disorders for ADAMTS13 Gene

MalaCards: The human disease database

(30) MalaCards diseases for ADAMTS13 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombotic thrombocytopenic purpura, familial
  • purpura, thrombotic thrombocytopenic
thrombocytopenic purpura, autoimmune
  • autoimmune thrombocytopenic purpura
familial thrombotic thrombocytopenia purpura
  • familial thrombotic thrombocytopenic purpura
purpura
  • purpuric disorder
thrombotic thrombocytopenic purpura
  • moschcowitz's syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ATS13_HUMAN
  • 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.

Relevant External Links for ADAMTS13

Genetic Association Database (GAD)
ADAMTS13
Human Genome Epidemiology (HuGE) Navigator
ADAMTS13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS13
genes like me logo Genes that share disorders with ADAMTS13: view

No data available for Genatlas for ADAMTS13 Gene

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 67
  2. ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura. (PMID: 19847791) Lotta L.A. … Peyvandi F. (Hum. Mutat. 2010) 3 23
  3. Multi-step binding of ADAMTS-13 to von Willebrand factor. (PMID: 19765212) Feys H.B. … Sadler J.E. (J. Thromb. Haemost. 2009) 3 23
  4. Reduced ADAMTS13 activity in delayed cerebral ischemia after aneurysmal subarachnoid hemorrhage. (PMID: 19584892) Vergouwen M.D. … Meijers J.C. (J. Cereb. Blood Flow Metab. 2009) 3 23
  5. Lower levels of ADAMTS13 are associated with cardiovascular disease in young patients. (PMID: 19439298) Bongers T.N. … Leebeek F.W. (Atherosclerosis 2009) 3 23

Products for ADAMTS13 Gene

Sources for ADAMTS13 Gene

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