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ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 [ Homo sapiens (human) ]

Gene ID: 80070, updated on 5-Sep-2021

Summary

Official Symbol
ADAMTS20provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 20provided by HGNC
Primary source
HGNC:HGNC:17178
See related
Ensembl:ENSG00000173157 MIM:611681
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
GON-1; ADAM-TS20; ADAMTS-20
Summary
The protein encoded by this gene is a member of the ADAMTS family of zinc-dependent proteases. The encoded protein has a signal peptide that is cleaved to release the mature peptide, which is secreted and found in the extracellular matrix. This protein may be involved in tissue remodeling. [provided by RefSeq, Sep 2011]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See ADAMTS20 in Genome Data Viewer
Location:
12q12
Exon count:
40
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (43352843..43552203, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (43747669..43946006, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S36 pseudogene 5 Neighboring gene long intergenic non-protein coding RNA 2461 Neighboring gene ribosomal protein L21 pseudogene 101 Neighboring gene THAP domain containing 12 pseudogene

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions.
GeneReviews: Not available
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
is_active_in extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 20
Names
a disintegrin-like and metalloprotease (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.

Genomic

  1. NG_028228.1 RefSeqGene

    Range
    4719..203056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025003.5NP_079279.3  A disintegrin and metalloproteinase with thrombospondin motifs 20 preproprotein

    See identical proteins and their annotated locations for NP_079279.3

    Status: REVIEWED

    Source sequence(s)
    AC090525, AC120104, AF488804, AJ515153, CN292892
    Consensus CDS
    CCDS31778.2
    UniProtKB/Swiss-Prot
    P59510
    Related
    ENSP00000374071.3, ENST00000389420.8
    Conserved Domains (7) summary
    smart00209
    Location:559611
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:259464
    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:259467
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:64185
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:721840
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08685
    Location:17141909
    GON; GON domain
    cl15278
    Location:14821525
    TSP_1; Thrombospondin type 1 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    43352843..43552203 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011538754.2XP_011537056.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X1

    Conserved Domains (7) summary
    smart00209
    Location:560612
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:259464
    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:259467
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:64185
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:722841
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08685
    Location:17151910
    GON; GON domain
    cl15278
    Location:14831526
    TSP_1; Thrombospondin type 1 domain
  2. XM_017019979.1XP_016875468.1  A disintegrin and metalloproteinase with thrombospondin motifs 20 isoform X2

    Conserved Domains (5) summary
    smart00209
    Location:155207
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:317436
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08685
    Location:13101505
    GON; GON domain
    cl00064
    Location:459
    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 ...
    cl15278
    Location:10781121
    TSP_1; Thrombospondin type 1 domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_175851.1: Suppressed sequence

    Description
    NM_175851.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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