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Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif 20 [ Mus musculus (house mouse) ]

Gene ID: 223838, updated on 21-Apr-2024

Summary

Official Symbol
Adamts20provided by MGI
Official Full Name
ADAM metallopeptidase 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
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
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
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Genomic context

Location:
15 E3; 15 48.2 cM
Exon count:
41
Annotation release Status Assembly Chr Location
RS_2024_02 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_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 41388 Neighboring gene STARR-seq mESC enhancer starr_39543 Neighboring gene STARR-seq mESC enhancer starr_39544 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:94018122-94018312 Neighboring gene RIKEN cDNA D630010B17 gene Neighboring gene STARR-seq mESC enhancer starr_39547 Neighboring gene STARR-positive B cell enhancer mm9_chr15:94351032-94351333 Neighboring gene STARR-positive B cell enhancer ABC_E3153 Neighboring gene STARR-seq mESC enhancer starr_39549 Neighboring gene pseudouridylate synthase 7-like Neighboring gene interleukin-1 receptor-associated kinase 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (13)  1 citation
  • Chemically induced (ENU) (12) 
  • Endonuclease-mediated (1) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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
 
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
 
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
 
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
 
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

Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 20
Names
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 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)

  1. NM_001164785.2NP_001158257.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform 2 precursor

    Status: VALIDATED

    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
    Consensus CDS
    CCDS49711.1
    UniProtKB/TrEMBL
    Q3UQW9
    Related
    ENSMUSP00000121696.2, ENSMUST00000155907.2
    Conserved Domains (5) summary
    smart00209
    Location:556608
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:255461
    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:255464
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:64185
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:718836
    ADAM_spacer1; ADAM-TS Spacer 1
  2. NM_001164786.2NP_001158258.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform 3 precursor

    Status: VALIDATED

    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, AC084384
    UniProtKB/TrEMBL
    Q3ULV2
    Related
    ENSMUST00000129195.8
    Conserved Domains (1) summary
    cd04273
    Location:255461
    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 ...
  3. NM_177431.6NP_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: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC084382, AC084384
    Consensus CDS
    CCDS27770.1
    UniProtKB/Swiss-Prot
    E9QLA1, P59511
    UniProtKB/TrEMBL
    Q0V926
    Related
    ENSMUSP00000036330.5, ENSMUST00000035342.11
    Conserved Domains (6) summary
    smart00209
    Location:556608
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:255461
    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:255464
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:64185
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:718836
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08685
    Location:17101905
    GON; GON 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

  1. NC_000081.7 Reference GRCm39 C57BL/6J

    Range
    94166177..94329966 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    Q0V926
    Conserved Domains (6) summary
    smart00209
    Location:565617
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:264470
    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:50195
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:727845
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08685
    Location:17191914
    GON; GON domain
    pfam17771
    Location:485552
    ADAM_CR_2; ADAM cysteine-rich domain
  2. XM_011245594.4XP_011243896.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X2

    UniProtKB/TrEMBL
    Q0V926
    Conserved Domains (6) summary
    smart00209
    Location:556608
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:255461
    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:41186
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:718836
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08685
    Location:17101824
    GON; GON domain
    pfam17771
    Location:476543
    ADAM_CR_2; ADAM cysteine-rich domain
  3. XM_017316581.3XP_017172070.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X3

    Conserved Domains (3) summary
    smart00209
    Location:626682
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:140258
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08685
    Location:11321246
    GON; GON domain

RNA

  1. XR_001781518.2 RNA Sequence