Adamts20 a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Adamts20provided by MGI
Official Full Name: a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20provided by MGI
Primary source: MGI:MGI:2660628
See related: Ensembl:ENSMUSG00000022449 AllianceGenome:MGI:2660628
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: bt; Adamst20
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. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Certain mutations in this gene cause defective development of neural crest-derived melanoblasts resulting in a "belted" phenotype that is characterized by white spots in the lumbar region. [provided by RefSeq, Jul 2016]
Expression: Biased expression in CNS E11.5 (RPKM 1.8), CNS E18 (RPKM 1.4) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 E3; 15 48.2 cM

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (94166177..94329966, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (94268314..94432074, complement)

Chromosome 15 - NC_000081.7 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?

Results provide compelling evidence that ADAMTS9 and ADAMTS20 were differentially sensitive to B3GLCT inactivation and suggest that the developmental defects in PTRPLS result from disruption of a subset of highly sensitive POFUT2/B3GLCT targets such as ADAMTS20.
Title: ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.
ADAMTS9 or ADAMTS20 mutagenesis impaired neural and yolk sac ciliogenesis, leading to morphogenetic anomalies resulting from impaired hedgehog signaling, which is transduced by primary cilia.
Title: Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis.
These findings support a model in which cooperative versican proteolysis by ADAMTS9 in vascular endothelium and by ADAMTS20 in palate mesenchyme drives palatal shelf sculpting and extension.
Title: Cooperation of two ADAMTS metalloproteases in closure of the mouse palate identifies a requirement for versican proteolysis in regulating palatal mesenchyme proliferation.
show that combinatorial mouse alleles for the secreted metalloproteases Adamts5, Adamts20 (bt), and Adamts9 result in fully penetrant soft-tissue syndactyly.
Title: ADAMTS metalloproteases generate active versican fragments that regulate interdigital web regression.
Adamts20 mutations in belted (bt) mice cause white spotting of the dorsal and ventral torso, indicative of defective neural crest (NC)-derived melanoblast development.
Title: The secreted metalloprotease ADAMTS20 is required for melanoblast survival.
ADAMTS-9 and ADAMTS-20 have an identical modular structure, are distinct in possessing 15 thrombospondin type I repeats and a unique C-terminal domain, and have a similar gene structure
Title: Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1.
This protein is identified and characterized and its relation to other disintegrins and thrombospondin 1 repeats is examined.
Title: Identification and characterization of ADAMTS-20 defines a novel subfamily of metalloproteinases-disintegrins with multiple thrombospondin-1 repeats and a unique GON domain.
Results suggest that the role of ADAMTS proteases, including ADAMTS20, in the regulation of cell migration has been conserved in mammalian development.
Title: A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation.

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Variation

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Alleles

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

Spontaneous (12) 1 citation
Chemically induced (ENU) (12)
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15Mit245 (e-PCR), detects polymorphism
- UniSTS:127617

Adamts20 (e-PCR), detects polymorphism
- UniSTS:532649

Adamts20 (e-PCR), detects polymorphism
- UniSTS:468181

Adamts20 (e-PCR), detects polymorphism
- UniSTS:468182

AI450842 (e-PCR)
- UniSTS:209139

Homology

Homologs of the Adamts20 gene: The Adamts20 gene is conserved in human, Rhesus monkey, dog, cow, rat, chicken, and frog.
Orthologs from Annotation Pipeline: 319 organisms have orthologs with human gene Adamts20
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables hydrolase activity	IEA Inferred from Electronic Annotation 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	PubMed
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metallopeptidase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IEA Inferred from Electronic Annotation more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of melanocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of melanocyte differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within proteolysis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of developmental pigmentation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: A disintegrin and metalloproteinase with thrombospondin motifs 20

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_001164785.1 → NP_001158257.1 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AC084382, AC084384, AI450842, AK090358, AK142029

Consensus CDS

CCDS49711.1

UniProtKB/TrEMBL

Q3UQW9

Related

ENSMUSP00000121696.2, ENSMUST00000155907.2

Conserved Domains (5) summary

smart00209
Location:556 → 608

TSP1; Thrombospondin type 1 repeats

cd04273
Location:255 → 461

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:255 → 464

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:64 → 185

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:718 → 836

ADAM_spacer1; ADAM-TS Spacer 1
NM_001164786.1 → NP_001158258.1 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1. This isoform (3) may undergo proteolytic processing similar to isoform 1.

Source sequence(s)

AC084382, AK090358

Related

ENSMUST00000129195.8

Conserved Domains (1) summary

cd04273
Location:255 → 461

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 ...
NM_177431.5 → NP_803180.3 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_803180.3

Status: REVIEWED

Description

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

Source sequence(s)

AC084382, AC084384, AK090358, AK142029

Consensus CDS

CCDS27770.1

UniProtKB/Swiss-Prot

E9QLA1, P59511

UniProtKB/TrEMBL

Q3UQW9

Related

ENSMUSP00000036330.5, ENSMUST00000035342.11

Conserved Domains (6) summary

smart00209
Location:556 → 608

TSP1; Thrombospondin type 1 repeats

cd04273
Location:255 → 461

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:255 → 464

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:64 → 185

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:718 → 836

ADAM_spacer1; ADAM-TS Spacer 1

pfam08685
Location:1710 → 1905

GON; GON domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...

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

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

94166177..94329966 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520863.4 → XP_006520926.1 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X1

Conserved Domains (6) summary

smart00209
Location:565 → 617

TSP1; Thrombospondin type 1 repeats

cd04273
Location:264 → 470

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:50 → 195

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:727 → 845

ADAM_spacer1; ADAM-TS Spacer 1

pfam08685
Location:1719 → 1914

GON; GON domain

pfam17771
Location:485 → 552

ADAM_CR_2; ADAM cysteine-rich domain
XM_011245594.4 → XP_011243896.1 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X2

Conserved Domains (6) summary

smart00209
Location:556 → 608

TSP1; Thrombospondin type 1 repeats

cd04273
Location:255 → 461

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:41 → 186

Pep_M12B_propep; Reprolysin family propeptide

pfam05986
Location:718 → 836

ADAM_spacer1; ADAM-TS Spacer 1

pfam08685
Location:1710 → 1824

GON; GON domain

pfam17771
Location:476 → 543

ADAM_CR_2; ADAM cysteine-rich domain
XM_017316581.3 → XP_017172070.1 A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X3

Conserved Domains (3) summary

smart00209
Location:626 → 682

TSP1; Thrombospondin type 1 repeats

pfam05986
Location:140 → 258

ADAM_spacer1; ADAM-TS Spacer 1

pfam08685
Location:1132 → 1246

GON; GON domain