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ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif 13 [ Homo sapiens (human) ]

Gene ID: 11093, updated on 11-Apr-2024

Summary

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Official Symbol
ADAMTS13provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 13provided by HGNC
Primary source
HGNC:HGNC:1366
See related
Ensembl:ENSG00000160323 MIM:604134; AllianceGenome:HGNC:1366
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VWFCP; C9orf8; vWF-CP; ADAM-TS13; ADAMTS-13
Summary
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]
Expression
Broad expression in liver (RPKM 4.0), testis (RPKM 2.7) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
9q34.2
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (133414337..133459386)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (145628765..145673828)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136279457..136324508)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29237 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136234564-136235235 Neighboring gene surfeit 2 Neighboring gene surfeit 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20454 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20455 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20456 Neighboring gene serine/threonine kinase like domain containing 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr9:136257045-136257682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136265498-136266135 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136267839-136268006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136269742-136270242 Neighboring gene REX4 homolog, 3'-5' exonuclease Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29239 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29240 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20458 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136295843-136296052 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:136321575-136321727 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136322178-136323045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20459 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20461 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136327558-136328114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29242 Neighboring gene uncharacterized LOC124902295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29244 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20462 Neighboring gene calcium channel flower domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:136344231-136344732 Neighboring gene solute carrier family 2 member 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. In vitro characterization of a novel Arg102 mutation in the ADAMTS13 metalloprotease domain. De Waele L, et al. J Thromb Haemost, 2023 Mar. PMID 36696198
  2. Recombinant ADAMTS13 for Hereditary Thrombotic Thrombocytopenic Purpura. Asmis LM, et al. N Engl J Med, 2022 Dec 22. PMID 36546627
  3. An update on the pathogenesis and diagnosis of thrombotic thrombocytopenic purpura. Gómez-Seguí I, et al. Expert Rev Hematol, 2023 Jan. PMID 36537217
  4. From the Discovery of ADAMTS13 to Current Understanding of Its Role in Health and Disease. Woods AI, et al. Semin Thromb Hemost, 2023 Apr. PMID 36368692
  5. ADAMTS13 conformation and immunoprofiles in Japanese patients with immune-mediated thrombotic thrombocytopenic purpura. Sakai K, et al. Blood Adv, 2023 Jan 10. PMID 36306339, Free PMC Article

See all (528) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ADAMTS-13 conformation influences autoimmune recognition in immune thrombotic thrombocytopenic purpura.
    Title: ADAMTS-13 conformation influences autoimmune recognition in immune thrombotic thrombocytopenic purpura.
  2. Ischemic Stroke Thrombus Perviousness Is Associated with Distinguishable Proteomic Features and Susceptibility to ADAMTS13-Augmented Thrombolysis.
    Title: Ischemic Stroke Thrombus Perviousness Is Associated with Distinguishable Proteomic Features and Susceptibility to ADAMTS13-Augmented Thrombolysis.
  3. Persistently elevated sFlt-1 and recovery of reduced ADAMTS13 activity in malignant hypertension.
    Title: Persistently elevated sFlt-1 and recovery of reduced ADAMTS13 activity in malignant hypertension.
  4. ADAMTS13 inhibits H2O2-induced human venous endothelial cell injury to attenuate deep-vein thrombosis by blocking the p38/ERK signaling pathway.
    Title: ADAMTS13 inhibits H(2)O(2)-induced human venous endothelial cell injury to attenuate deep-vein thrombosis by blocking the p38/ERK signaling pathway.
  5. ADAMTS13 regulates angiogenic markers via Ephrin/Eph signaling in human mesenchymal stem cells under serum-deprivation stress.
    Title: ADAMTS13 regulates angiogenic markers via Ephrin/Eph signaling in human mesenchymal stem cells under serum-deprivation stress.
  6. A Moderate Decrease in ADAMTS13 Activity Correlates with the Severity of STEC-HUS.
    Title: A Moderate Decrease in ADAMTS13 Activity Correlates with the Severity of STEC-HUS.
  7. Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.
    Title: Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.
  8. Evaluating von Willebrand factor and ADAMTS13 levels in thalassemia major patients and assessing a possible association with Thrombospondin-1.
    Title: Evaluating von Willebrand factor and ADAMTS13 levels in thalassemia major patients and assessing a possible association with Thrombospondin-1.
  9. Impact of the von Willebrand factor-ADAMTS-13 axis on the risk of future venous thromboembolism.
    Title: Impact of the von Willebrand factor-ADAMTS-13 axis on the risk of future venous thromboembolism.
  10. From the Discovery of ADAMTS13 to Current Understanding of Its Role in Health and Disease.
    Title: From the Discovery of ADAMTS13 to Current Understanding of Its Role in Health and Disease.
Submit: New GeneRIF Correction See all GeneRIFs (500)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Upshaw-Schulman syndrome
MedGen: C1268935 OMIM: 274150 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
EBI GWAS Catalog
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
EBI GWAS Catalog
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ42993, MGC118899, MGC118900, DKFZp434C2322

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding TAS
Traceable Author Statement
more info
 PubMed 
enables integrin binding TAS
Traceable Author Statement
more info
 PubMed 
enables metalloendopeptidase activity EXP
Inferred from Experiment
more info
 PubMed 
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metalloendopeptidase activity TAS
Traceable Author Statement
more info
  
enables metallopeptidase activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables zinc ion binding TAS
Traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in blood coagulation TAS
Traceable Author Statement
more info
  
involved_in cell-matrix adhesion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular response to interleukin-4 IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to type II interferon IEA
Inferred from Electronic Annotation
more info
  
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glycoprotein metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in integrin-mediated signaling pathway NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in peptide catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in platelet activation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in protein catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in protein processing TAS
Traceable Author Statement
more info
 PubMed 
involved_in proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to amine IEA
Inferred from Electronic Annotation
more info
  
involved_in response to potassium ion IEA
Inferred from Electronic Annotation
more info
  
involved_in response to toxic substance IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell surface NAS
Non-traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
  
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular matrix TAS
Traceable Author Statement
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 13
Names
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13
vWF-cleaving protease
von Willebrand factor-cleaving protease
NP_620594.1
NP_620595.1
NP_620596.2
XP_011516478.1
XP_011516480.1
XP_011516481.1
XP_016869721.1
XP_016869722.1
XP_016869723.1
XP_016869724.1
XP_047278655.1
XP_047278656.1
XP_054187537.1
XP_054187538.1
XP_054187539.1
XP_054187540.1
XP_054187541.1
XP_054187542.1
XP_054187543.1
XP_054187544.1
XP_054187545.1
XP_054217833.1
XP_054217834.1
XP_054217835.1
XP_054217836.1
XP_054217837.1
XP_054217838.1
XP_054217839.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011934.2 RefSeqGene

    Range
    12662..50065
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_544

mRNA and Protein(s)

  1. NM_139025.5 → NP_620594.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_620594.1

    Status: REVIEWED

    Source sequence(s)
    AL593848
    Consensus CDS
    CCDS6970.1
    UniProtKB/Swiss-Prot
    Q6UY16, Q710F6, Q711T8, Q76LX8, Q96L37, Q9H0G3, Q9UGQ1
    Related
    ENSP00000360997.3, ENST00000371929.7
    Conserved Domains (3) summary
    smart00209
    Location:387 → 439
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:80 → 283
    ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
    pfam05986
    Location:559 → 680
    ADAM_spacer1; ADAM-TS Spacer 1

  2. NM_139026.6 → NP_620595.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 3 preproprotein

    See identical proteins and their annotated locations for NP_620595.1

    Status: REVIEWED

    Source sequence(s)
    AL593848
    Consensus CDS
    CCDS6971.1
    UniProtKB/Swiss-Prot
    Q76LX8
    Related
    ENSP00000348997.2, ENST00000356589.6
    Conserved Domains (3) summary
    smart00209
    Location:356 → 408
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:80 → 277
    ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
    pfam05986
    Location:528 → 649
    ADAM_spacer1; ADAM-TS Spacer 1

  3. NM_139027.6 → NP_620596.2  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_620596.2

    Status: REVIEWED

    Source sequence(s)
    AL593848
    Consensus CDS
    CCDS6972.1
    UniProtKB/Swiss-Prot
    Q76LX8
    Related
    ENSP00000347927.2, ENST00000355699.7
    Conserved Domains (3) summary
    smart00209
    Location:387 → 439
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:80 → 283
    ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
    pfam05986
    Location:559 → 680
    ADAM_spacer1; ADAM-TS Spacer 1

RNA

  1. NR_024514.3 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL593848
    Related
    ENST00000485925.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    133414337..133459386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014233.2 → XP_016869722.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

    Conserved Domains (3) summary
    smart00209
    Location:257 → 309
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:429 → 550
    ADAM_spacer1; ADAM-TS Spacer 1
    cl00064
    Location:1 → 153
    ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

  2. XM_017014232.2 → XP_016869721.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

  3. XM_047422699.1 → XP_047278655.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2

  4. XM_017014235.2 → XP_016869724.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X8

  5. XM_047422700.1 → XP_047278656.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X9

  6. XM_017014234.2 → XP_016869723.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5

    Conserved Domains (2) summary
    smart00209
    Location:57 → 109
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:229 → 350
    ADAM_spacer1; ADAM-TS Spacer 1

  7. XM_011518176.4 → XP_011516478.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4

    See identical proteins and their annotated locations for XP_011516478.1

    Conserved Domains (2) summary
    smart00209
    Location:59 → 111
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:231 → 352
    ADAM_spacer1; ADAM-TS Spacer 1

  8. XM_011518179.1 → XP_011516481.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7

    See identical proteins and their annotated locations for XP_011516481.1

    Conserved Domains (1) summary
    smart00209
    Location:301 → 360
    TSP1; Thrombospondin type 1 repeats

  9. XM_011518178.3 → XP_011516480.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6

    See identical proteins and their annotated locations for XP_011516480.1

    Conserved Domains (1) summary
    pfam05986
    Location:114 → 235
    ADAM_spacer1; ADAM-TS Spacer 1

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_009646201.1 Reference GRCh38.p14 PATCHES

    Range
    240431..285480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331564.1 → XP_054187539.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

  2. XM_054331562.1 → XP_054187537.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

  3. XM_054331563.1 → XP_054187538.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2

  4. XM_054331569.1 → XP_054187544.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X8

  5. XM_054331570.1 → XP_054187545.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X9

  6. XM_054331566.1 → XP_054187541.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5

  7. XM_054331565.1 → XP_054187540.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4

  8. XM_054331568.1 → XP_054187543.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7

  9. XM_054331567.1 → XP_054187542.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    145628765..145673828
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361858.1 → XP_054217833.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X10

  2. XM_054361860.1 → XP_054217835.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

  3. XM_054361859.1 → XP_054217834.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

  4. XM_054361862.1 → XP_054217837.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5

  5. XM_054361861.1 → XP_054217836.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4

  6. XM_054361864.1 → XP_054217839.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7

  7. XM_054361863.1 → XP_054217838.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_139028.2: Suppressed sequence

    Description
    NM_139028.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q76LX8.1 GenPept UniProtKB/Swiss-Prot:Q76LX8

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