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

Gene ID: 11093, updated on 12-Aug-2018

Summary

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; Vega:OTTHUMG00000020876
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

Genomic context

See ADAMTS13 in Genome Data Viewer
Location:
9q34.2
Exon count:
32
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (133414339..133459403)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (136279459..136324525)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene surfeit 2 Neighboring gene surfeit 4 Neighboring gene serine/threonine kinase like domain containing 1 Neighboring gene REX4 homolog, 3'-5' exonuclease Neighboring gene calcium channel flower domain containing 1 Neighboring gene solute carrier family 2 member 6

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
    Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
    O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42993, MGC118899, MGC118900, DKFZp434C2322

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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_139025.4NP_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

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB069698, AF414401, AV655072
    Consensus CDS
    CCDS6970.1
    UniProtKB/Swiss-Prot
    Q76LX8
    Related
    ENSP00000360997.3, OTTHUMP00000022496, ENST00000371929.7, OTTHUMT00000054920
    Conserved Domains (3) summary
    smart00209
    Location:387439
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:80283
    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:559680
    ADAM_spacer1; ADAM-TS Spacer 1
  2. NM_139026.4NP_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

    Description
    Transcript Variant: This variant (3) uses alternate in-frame splice sites at two exons, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AB069698, AF414401, AJ305314, AV655072
    Consensus CDS
    CCDS6971.1
    UniProtKB/Swiss-Prot
    Q76LX8
    Related
    ENSP00000348997.2, OTTHUMP00000022498, ENST00000356589.6, OTTHUMT00000054922
    Conserved Domains (3) summary
    smart00209
    Location:356408
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:80277
    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:528649
    ADAM_spacer1; ADAM-TS Spacer 1
  3. NM_139027.4NP_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

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB069698, AF414401, AJ420810, AV655072
    Consensus CDS
    CCDS6972.1
    UniProtKB/Swiss-Prot
    Q76LX8
    Related
    ENSP00000347927.2, OTTHUMP00000022497, ENST00000355699.6, OTTHUMT00000054921
    Conserved Domains (3) summary
    smart00209
    Location:387439
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:80283
    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:559680
    ADAM_spacer1; ADAM-TS Spacer 1

RNA

  1. NR_024514.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon and lacks multiple internal exons, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.
    Source sequence(s)
    AF414401, AV655072, BC034404, DB069518
    Related
    ENST00000485925.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    133414339..133459403
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014233.1XP_016869722.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2

    Conserved Domains (3) summary
    smart00209
    Location:257309
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:429550
    ADAM_spacer1; ADAM-TS Spacer 1
    cl00064
    Location:1153
    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_017014232.1XP_016869721.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

  3. XM_017014235.1XP_016869724.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X7

  4. XM_017014234.2XP_016869723.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X4

    Conserved Domains (2) summary
    smart00209
    Location:57109
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:229350
    ADAM_spacer1; ADAM-TS Spacer 1
  5. XM_011518176.3XP_011516478.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

    See identical proteins and their annotated locations for XP_011516478.1

    Conserved Domains (2) summary
    smart00209
    Location:59111
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:231352
    ADAM_spacer1; ADAM-TS Spacer 1
  6. XM_011518179.1XP_011516481.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X6

    See identical proteins and their annotated locations for XP_011516481.1

    Conserved Domains (1) summary
    smart00209
    Location:301360
    TSP1; Thrombospondin type 1 repeats
  7. XM_011518178.2XP_011516480.1  A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X5

    See identical proteins and their annotated locations for XP_011516480.1

    Conserved Domains (1) summary
    pfam05986
    Location:114235
    ADAM_spacer1; ADAM-TS Spacer 1

RNA

  1. XR_001746171.1 RNA Sequence

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_009646201.1 Reference GRCh38.p12 PATCHES

    Range
    240433..285497
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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