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ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 [ Homo sapiens (human) ]

Gene ID: 9508, updated on 20-Dec-2019

Summary

Official Symbol
ADAMTS3provided by HGNC
Official Full Name
ADAM metallopeptidase with thrombospondin type 1 motif 3provided by HGNC
Primary source
HGNC:HGNC:219
See related
Ensembl:ENSG00000156140 MIM:605011
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
HKLLS3; ADAMTS-4
Summary
This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease, a member of the procollagen aminopropeptidase subfamily of proteins, may play a role in the processing of type II fibrillar collagen in articular cartilage. [provided by RefSeq, Feb 2016]
Expression
Broad expression in testis (RPKM 1.4), ovary (RPKM 1.0) and 22 other tissues See more
Orthologs

Genomic context

See ADAMTS3 in Genome Data Viewer
Location:
4q13.3
Exon count:
24
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (72280969..72569221, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (73146686..73434516, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs2570 Neighboring gene Sharpr-MPRA regulatory region 3382 Neighboring gene neuropeptide FF receptor 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 67 Neighboring gene uncharacterized LOC105377273 Neighboring gene RNA, U4atac small nuclear 9, 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
HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3
MedGen: C4748408 OMIM: 618154 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
NHGRI GWA Catalog
Genome-wide association scan of dental caries in the permanent dentition.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of ADAM metallopeptidase with thrombospondin type 1 motif 3 protein (ADAMTS3) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0366

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
metalloendopeptidase activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with collagen-containing extracellular matrix TAS
Traceable Author Statement
more info
PubMed 
extracellular exosome HDA PubMed 
extracellular matrix NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
A disintegrin and metalloproteinase with thrombospondin motifs 3
Names
ADAM-TS 3
ADAM-TS3
ADAMTS-3
PC II-NP
a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3
procollagen II N-proteinase
procollagen II amino propeptide-processing enzyme
zinc metalloendopeptidase
NP_055058.2
XP_011530723.1
XP_011530724.1

NCBI Reference Sequences (RefSeq)

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_046955.1 RefSeqGene

    Range
    4579..292831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_014243.3NP_055058.2  A disintegrin and metalloproteinase with thrombospondin motifs 3 preproprotein

    See identical proteins and their annotated locations for NP_055058.2

    Status: REVIEWED

    Source sequence(s)
    AB002364, AC104814, AF247668, AK295131, BC016451, BC130287
    Consensus CDS
    CCDS3553.1
    UniProtKB/Swiss-Prot
    O15072
    UniProtKB/TrEMBL
    B7Z2U9, Q96AY5
    Related
    ENSP00000286657.4, ENST00000286657.10
    Conserved Domains (6) summary
    smart00209
    Location:554605
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:256457
    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:258460
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:66200
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:713827
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10231051
    PLAC; PLAC (protease and lacunin) domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    72280969..72569221 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532422.3XP_011530724.1  A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform X2

    Conserved Domains (6) summary
    smart00209
    Location:526577
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:228429
    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:230432
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:38172
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:685799
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:9951023
    PLAC; PLAC (protease and lacunin) domain
  2. XM_011532421.2XP_011530723.1  A disintegrin and metalloproteinase with thrombospondin motifs 3 isoform X1

    Conserved Domains (6) summary
    smart00209
    Location:535586
    TSP1; Thrombospondin type 1 repeats
    cd04273
    Location:237438
    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:239441
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:47181
    Pep_M12B_propep; Reprolysin family propeptide
    pfam05986
    Location:694808
    ADAM_spacer1; ADAM-TS Spacer 1
    pfam08686
    Location:10041032
    PLAC; PLAC (protease and lacunin) domain
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