Adamts3 ADAM metallopeptidase with thrombospondin type 1 motif 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Adamts3provided by MGI
Official Full Name: ADAM metallopeptidase with thrombospondin type 1 motif 3provided by MGI
Primary source: MGI:MGI:3045353
See related: Ensembl:ENSMUSG00000043635 AllianceGenome:MGI:3045353
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 1100001H14Rik; 6330442E02Rik
Summary: Enables peptidase activity. Acts upstream of or within in utero embryonic development and protein processing. Predicted to be located in extracellular space. Predicted to be active in extracellular matrix. Is expressed in embryo; footplate apical ectodermal ridge; and handplate apical ectodermal ridge. Human ortholog(s) of this gene implicated in Hennekam syndrome. Orthologous to human ADAMTS3 (ADAM metallopeptidase with thrombospondin type 1 motif 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in limb E14.5 (RPKM 3.5), CNS E18 (RPKM 3.3) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 E1; 5 44.32 cM

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (89821700..90031521, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (89673841..89883668, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

ADAMTS-3 was identified as the protease that cleaves and inactivates Reelin in the cerebral cortex and hippocampus. ADAMTS-3 was expressed in the excitatory neurons of the embryonic and postnatal cerebral cortex and hippocampus.
Title: Secreted Metalloproteinase ADAMTS-3 Inactivates Reelin.
an ADAMTS3 knockout mouse (Adamts3(-/-)) model was created to determine in vivo the actual functions of ADAMTS3.
Title: ADAMTS3 activity is mandatory for embryonic lymphangiogenesis and regulates placental angiogenesis.

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Variation

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Alleles

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

Spontaneous (1) 1 citation
Targeted (4) 1 citation
Endonuclease-mediated (2)

General gene information

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Markers

GDB:455130 (e-PCR)
- UniSTS:157452

Adamts3 (e-PCR), detects polymorphism
- UniSTS:532650

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in collagen biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within in utero embryonic development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of vascular endothelial growth factor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein processing	IDA Inferred from Direct Assay more info	PubMed
involved_in protein processing	ISO Inferred from Sequence Orthology more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in vascular endothelial growth factor production	ISO Inferred from Sequence Orthology 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 3

Names: a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 3

NP_001074870.1

EC 3.4.24.-

NP_808540.2

EC 3.4.24.-

XP_017176420.1

EC 3.4.24.-

XP_036021118.1

EC 3.4.24.-

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_001081401.2 → NP_001074870.1 A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform 2 precursor

See identical proteins and their annotated locations for NP_001074870.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate in-frame exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the same N- and C-termini compared to isoform 1.

Source sequence(s)

AC102039, AC102056, AC156611

Consensus CDS

CCDS39140.1

UniProtKB/TrEMBL

B2RY57, G3X9D2

Related

ENSMUSP00000058552.6, ENSMUST00000061427.10

Conserved Domains (6) summary

smart00209
Location:554 → 605

TSP1; Thrombospondin type 1 repeats

cd04273
Location:256 → 457

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 ...

pfam01421
Location:258 → 460

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:66 → 200

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:713 → 827

ADAM_spacer1; ADAM-TS Spacer 1

pfam08686
Location:1023 → 1051

PLAC; PLAC (protease and lacunin) domain
NM_177872.2 → NP_808540.2 A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform 1 precursor

Status: VALIDATED

Description

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

Source sequence(s)

AC102039, AC102056, AC156611

Consensus CDS

CCDS51542.1

UniProtKB/TrEMBL

B2RY45, E9Q287

Related

ENSMUSP00000132219.2, ENSMUST00000163159.8

Conserved Domains (6) summary

smart00209
Location:554 → 605

TSP1; Thrombospondin type 1 repeats

cd04273
Location:256 → 457

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 ...

pfam01421
Location:258 → 460

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:66 → 200

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:713 → 828

ADAM_spacer1; ADAM-TS Spacer 1

pfam08686
Location:1024 → 1052

PLAC; PLAC (protease and lacunin) domain

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_000071.7 Reference GRCm39 C57BL/6J

Range

89821700..90031521 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036165225.1 → XP_036021118.1 A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform X1

Conserved Domains (6) summary

smart00209
Location:554 → 605

TSP1; Thrombospondin type 1 repeats

cd04273
Location:256 → 457

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:713 → 827

ADAM_spacer1; ADAM-TS Spacer 1

pfam01562
Location:43 → 201

Pep_M12B_propep; Reprolysin family propeptide

pfam17771
Location:472 → 540

ADAM_CR_2; ADAM cysteine-rich domain

pfam19030
Location:849 → 904

TSP1_ADAMTS; Thrombospondin type 1 domain
XM_017320931.3 → XP_017176420.1 A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform X2

Conserved Domains (4) summary

smart00209
Location:554 → 605

TSP1; Thrombospondin type 1 repeats

cd04273
Location:256 → 457

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 ...

pfam01562
Location:43 → 201

Pep_M12B_propep; Reprolysin family propeptide

pfam17771
Location:472 → 540

ADAM_CR_2; ADAM cysteine-rich domain