Adamts13 ADAM metallopeptidase with thrombospondin type 1 motif 13 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Adamts13provided by MGI
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 13provided by MGI
Primary source: MGI:MGI:2685556
See related: Ensembl:ENSMUSG00000014852 AllianceGenome:MGI:2685556
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm710; vWF-CP; ADAM-TS13; ADAMTS-13
Summary: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. In certain mouse strains (C57BL/6, for example) an intracisternal A-type particle (IAP) retrotransposon sequence is located in the intron 23 that causes an alternate splicing event resulting in a shorter transcript variants encoding shorter isoforms. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme that cleaves von Willebrand factor (VWF) in circulating blood. [provided by RefSeq, Jul 2016]
Expression: Biased expression in liver adult (RPKM 2.2), liver E18 (RPKM 1.0) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 A3; 2 19.14 cM

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (26863363..26899638)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (26973361..27009625)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ADAMTS13 deficiency exacerbates neuroinflammation by targeting matrix metalloproteinase-9 in ischemic brain injury.
Title: ADAMTS13 deficiency exacerbates neuroinflammation by targeting matrix metalloproteinase-9 in ischemic brain injury.
Regulation of von Willebrand factor by ADAMTS13 ameliorates lipopolysaccharide-induced lung injury in mice.
Title: Regulation of von Willebrand factor by ADAMTS13 ameliorates lipopolysaccharide-induced lung injury in mice.
ADAMTS-13-regulated nuclear factor E2-related factor 2 signaling inhibits ferroptosis to ameliorate cisplatin-induced acute kidney injuy.
Title: ADAMTS-13-regulated nuclear factor E2-related factor 2 signaling inhibits ferroptosis to ameliorate cisplatin-induced acute kidney injuy.
Antibodies that conformationally activate ADAMTS13 allosterically enhance metalloprotease domain function.
Title: Antibodies that conformationally activate ADAMTS13 allosterically enhance metalloprotease domain function.
Endothelial CD40 Mediates Microvascular von Willebrand Factor-Dependent Platelet Adhesion Inducing Inflammatory Venothrombosis in ADAMTS13 Knockout Mice.
Title: Endothelial CD40 Mediates Microvascular von Willebrand Factor-Dependent Platelet Adhesion Inducing Inflammatory Venothrombosis in ADAMTS13 Knockout Mice.
These results support a synergistic effect of severe ADAMTS13 deficiency and complement activation in pathogenesis of thrombotic microangiopathy in mice.
Title: Synergistic effects of ADAMTS13 deficiency and complement activation in pathogenesis of thrombotic microangiopathy.
ADAMTS13 knockout promotes the occurrence of early brain injury after experimental subarachnoid hemorrhage.
Title: Role of von Willebrand factor and ADAMTS-13 in early brain injury after experimental subarachnoid hemorrhage.
ADAMTS13-vWF axis is partially involved in the pathophysiology of kidney ischemic reperfusion injury.
Title: ADAMTS13-von Willebrand factor axis is involved in the pathophysiology of kidney ischaemia-reperfusion injury.
Adamts13 deficiency in obese mice promotes hepatic microthrombosis.
Title: ADAMTS13 deficiency promotes microthrombosis in a murine model of diet-induced liver steatosis.
ADAMTS13 retards progression of diabetic nephropathy, most likely by inhibiting VWF-dependent intrarenal thrombosis.
Title: ADAMTS13 Retards Progression of Diabetic Nephropathy by Inhibiting Intrarenal Thrombosis in Mice.

Submit: New GeneRIF Correction See all GeneRIFs (53)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Spontaneous (1) 1 citation
Targeted (6) 1 citation

General gene information

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Markers

Adamts13 (e-PCR), detects polymorphism
- UniSTS:532641

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase activity	ISO Inferred from Sequence Orthology more info
enables peptidase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in blood coagulation	IEA Inferred from Electronic Annotation more info
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 extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in peptide catabolic process	IEA Inferred from Electronic Annotation more info
involved_in peptide catabolic process	ISO Inferred from Sequence Orthology more info
involved_in protein catabolic process	IEA Inferred from Electronic Annotation more info
involved_in protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	ISO Inferred from Sequence Orthology more info
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
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: A disintegrin and metalloproteinase with thrombospondin motifs 13

Names: a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13; a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13; vWF-CP mRNA for von Willebrand factor-cleaving; vWF-cleaving protease; von Willebrand factor-cleaving protease

NP_001001322.1

EC 3.4.24.87

NP_001277392.1

EC 3.4.24.87

NP_001277393.1

EC 3.4.24.87

NP_001277394.1

EC 3.4.24.87

XP_006498163.1

EC 3.4.24.87

XP_006498166.1

EC 3.4.24.87

XP_006498167.1

EC 3.4.24.87

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.

mRNA and Protein(s)

NM_001001322.2 → NP_001001322.1 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001001322.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AB095445, AB112362

Consensus CDS

CCDS15820.1

UniProtKB/Swiss-Prot

A2ALB4, Q769J6, Q76LW1

Related

ENSMUSP00000099955.4, ENSMUST00000102891.4

Conserved Domains (3) summary

smart00209
Location:392 → 444

TSP1; Thrombospondin type 1 repeats

cd04273
Location:82 → 286

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:565 → 683

ADAM_spacer1; ADAM-TS Spacer 1
NM_001290463.1 → NP_001277392.1 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AB095445, AB112362

UniProtKB/Swiss-Prot

Q769J6

Conserved Domains (3) summary

smart00209
Location:392 → 444

TSP1; Thrombospondin type 1 repeats

cd04273
Location:82 → 286

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:565 → 683

ADAM_spacer1; ADAM-TS Spacer 1
NM_001290464.1 → NP_001277393.1 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform IAP-a precursor

Status: REVIEWED

Description

Transcript Variant: This variant (IAP-a) lacks seven 3' exons but instead contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (IAP-a) has a distinct C-terminus and is shorter than isoform 1. This isoform (IAP-a) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AL773563, AL845266

Consensus CDS

CCDS71010.1

UniProtKB/TrEMBL

A2ALB3, A7LM19

Related

ENSMUSP00000014996.8, ENSMUST00000014996.14

Conserved Domains (3) summary

smart00209
Location:392 → 444

TSP1; Thrombospondin type 1 repeats

cd04273
Location:82 → 286

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:565 → 683

ADAM_spacer1; ADAM-TS Spacer 1
NM_001290465.1 → NP_001277394.1 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform IAP-b precursor

Status: REVIEWED

Description

Transcript Variant: This variant (IAP-b) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, and it also lacks seven 3' exons but instead contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (IAP-b) has a distinct C-terminus and is shorter than isoform 1. This isoform (IAP-b) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AL773563, AL845266, EU034706

UniProtKB/TrEMBL

A7LM19

Conserved Domains (2) summary

smart00209
Location:392 → 444

TSP1; Thrombospondin type 1 repeats

cd04273
Location:82 → 286

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 ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

26863363..26899638

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006498100.5 → XP_006498163.1 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X1

Conserved Domains (3) summary

smart00209
Location:392 → 444

TSP1; Thrombospondin type 1 repeats

cd04273
Location:82 → 286

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 ...

pfam17771
Location:306 → 376

ADAM_CR_2; ADAM cysteine-rich domain
XM_006498104.5 → XP_006498167.1 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X3

UniProtKB/TrEMBL

A7LM19

Conserved Domains (4) summary

smart00209
Location:392 → 444

TSP1; Thrombospondin type 1 repeats

cd04273
Location:82 → 286

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:565 → 683

ADAM_spacer1; ADAM-TS Spacer 1

pfam17771
Location:306 → 376

ADAM_CR_2; ADAM cysteine-rich domain
XM_006498103.5 → XP_006498166.1 A disintegrin and metalloproteinase with thrombospondin motifs 13 isoform X2

UniProtKB/TrEMBL

A7LM19

Conserved Domains (4) summary

smart00209
Location:392 → 444

TSP1; Thrombospondin type 1 repeats

cd04273
Location:82 → 286

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:565 → 683

ADAM_spacer1; ADAM-TS Spacer 1

pfam17771
Location:306 → 376

ADAM_CR_2; ADAM cysteine-rich domain