ADAMTS6 Gene (Protein Coding)

ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6

GC05M065148
GIFtS:
40
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 T... See more...

Aliases for ADAMTS6 Gene

Aliases for ADAMTS6 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6 2 3 5
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 6 2 3 4
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 6 2 3
  • ADAM-TS 6 3 4
  • ADAM-TS6 3 4
  • ADAMTS-6 3 4
  • EC 3.4.24.82 54
  • EC 3.4.24.- 4

External Ids for ADAMTS6 Gene

Previous GeneCards Identifiers for ADAMTS6 Gene

  • GC05M064657
  • GC05M066048
  • GC05M064480
  • GC05M064526
  • GC05M064545
  • GC05M061399

Summaries for ADAMTS6 Gene

Entrez Gene Summary for ADAMTS6 Gene

  • 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 enzyme. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]

GeneCards Summary for ADAMTS6 Gene

ADAMTS6 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6) is a Protein Coding gene. Diseases associated with ADAMTS6 include Inguinal Hernia and Weill-Marchesani Syndrome. Among its related pathways are O-linked glycosylation and O-glycosylation of TSR domain-containing proteins. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS10.

Additional gene information for ADAMTS6 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADAMTS6 Gene

Genomics for ADAMTS6 Gene

GeneHancer (GH) Regulatory Elements for ADAMTS6 Gene

Promoters and enhancers for ADAMTS6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADAMTS6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTS6 gene promoter:
  • AML1a
  • E47
  • Evi-1
  • Hand1
  • IRF-2
  • IRF-7A
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • Sox9

Genomic Locations for ADAMTS6 Gene

Genomic Locations for ADAMTS6 Gene
chr5:65,148,736-65,482,027
(GRCh38/hg38)
Size:
333,292 bases
Orientation:
Minus strand
chr5:64,444,563-64,777,747
(GRCh37/hg19)
Size:
333,185 bases
Orientation:
Minus strand

Genomic View for ADAMTS6 Gene

Genes around ADAMTS6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS6 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ADAMTS6 Gene

Proteins for ADAMTS6 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ADAMTS6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKP5-ATS6_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 6
    Protein Accession:
    Q9UKP5
    Secondary Accessions:
    • Q59EX6
    • Q5IR87
    • Q5IR88
    • Q5IR89
    • Q68DL1

    Protein attributes for ADAMTS6 Gene

    Size:
    1117 amino acids
    Molecular mass:
    125273 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAMTS6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS6 Gene

Protein Expression for ADAMTS6 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ADAMTS6 Gene

Q9UKP5:
  • VETLVVAD
  • CSRTCGGGV

Post-translational modifications for ADAMTS6 Gene

  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylated. Can be O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X(2)-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTS family members. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion (By similarity).
  • Glycosylation at Asn99, Asn172, Asn222, Asn234, Asn724, and Asn956
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADAMTS6 Gene

Gene Families for ADAMTS6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted secreted proteins

Protein Domains for ADAMTS6 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ADAMTS6 Gene

GenScript: Design optimal peptide antigens:
  • A disintegrin and metalloproteinase with thrombospondin motifs 6 (ATS6_HUMAN)
  • ADAMTS6 variant 2 (Q5IR90_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UKP5

UniProtKB/Swiss-Prot:

ATS6_HUMAN :
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
Domain:
  • The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix.
genes like me logo Genes that share domains with ADAMTS6: view

Function for ADAMTS6 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ADAMTS6 Gene

UniProtKB/Swiss-Prot Induction:
Isoform 1 and isoform 2 expressions are up-regulated by TNF in retinal pigment epithelial cells.
GENATLAS Biochemistry:
a disintegrin-like and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif 6,expressed in the periimplantation period in mouse embryo and adult tissues,extracellular matrix protein

Enzyme Numbers (IUBMB) for ADAMTS6 Gene

Phenotypes From GWAS Catalog for ADAMTS6 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity TAS 10464288
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ADAMTS6: view
genes like me logo Genes that share phenotypes with ADAMTS6: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS6

CRISPR Products

miRNA for ADAMTS6 Gene

miRTarBase miRNAs that target ADAMTS6

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADAMTS6 Gene

Localization for ADAMTS6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS6 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADAMTS6 gene
Compartment Confidence
extracellular 4
plasma membrane 2
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for ADAMTS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with ADAMTS6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAMTS6 Gene

Pathways & Interactions for ADAMTS6 Gene

genes like me logo Genes that share pathways with ADAMTS6: view

Gene Ontology (GO) - Biological Process for ADAMTS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003279 cardiac septum development IEA --
GO:0006508 proteolysis IEA --
GO:0007507 heart development IEA --
GO:0035904 aorta development IEA --
GO:0060976 coronary vasculature development IEA --
genes like me logo Genes that share ontologies with ADAMTS6: view

No data available for SIGNOR curated interactions for ADAMTS6 Gene

Drugs & Compounds for ADAMTS6 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for ADAMTS6 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ADAMTS6 Gene

(1) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(183) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS6 Gene

No ASD Table

Relevant External Links for ADAMTS6 Gene

GeneLoc Exon Structure for
ADAMTS6
ECgene alternative splicing isoforms for
ADAMTS6

Expression for ADAMTS6 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS6 Gene

mRNA expression in normal human tissues for ADAMTS6 Gene
mRNA expression by BioGPS for ADAMTS6 GenemRNA expression by GTEx for ADAMTS6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS6 Gene



NURSA nuclear receptor signaling pathways regulating expression of ADAMTS6 Gene:

ADAMTS6

SOURCE GeneReport for Unigene cluster for ADAMTS6 Gene:

Hs.482291

mRNA Expression by UniProt/SwissProt for ADAMTS6 Gene:

Q9UKP5-ATS6_HUMAN
Tissue specificity: Expressed at low levels in placenta and barely detectable in a number of other tissues.

Evidence on tissue expression from TISSUES for ADAMTS6 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with ADAMTS6: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS6 Gene

Orthologs for ADAMTS6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ADAMTS6 33 32
  • 99.7 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ADAMTS6 33
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ADAMTS6 33 32
  • 95.88 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ADAMTS6 33 32
  • 95.88 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Adamts6 17 33 32
  • 92.84 (n)
rat
(Rattus norvegicus)
 Mammalia Adamts6 32
  • 92.18 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ADAMTS6 33
  • 89 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ADAMTS6 33 32
  • 87.44 (n)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia adamts6 32
  • 81.56 (n)
zebrafish
(Danio rerio)
 Actinopterygii adamts6 33 32
  • 75.21 (n)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta CG14869 33
  • 19 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea gon-1 33
  • 16 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 49 (a)
 OneToMany
Species where no ortholog for ADAMTS6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADAMTS6 Gene

ENSEMBL:
Gene Tree for ADAMTS6 (if available)
TreeFam:
Gene Tree for ADAMTS6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADAMTS6: view image

Paralogs for ADAMTS6 Gene

Paralogs for ADAMTS6 Gene

(13) SIMAP similar genes for ADAMTS6 Gene using alignment to 3 proteins:

  • ATS6_HUMAN
  • D6R9L6_HUMAN
  • Q5IR90_HUMAN
genes like me logo Genes that share paralogs with ADAMTS6: view

Variants for ADAMTS6 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ADAMTS6 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000001800 -- 65,423,603(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000012046 -- 65,336,145(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000014382 -- 65,448,137(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000016559 -- 65,302,687(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000018503 -- 65,310,067(-) G/A genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS6 Gene

Variant ID Type Subtype PubMed ID
dgv5693n100 CNV gain 25217958
esv2672410 CNV deletion 23128226
esv26770 CNV loss 19812545
esv2730275 CNV deletion 23290073
esv2730276 CNV deletion 23290073
esv3347526 CNV insertion 20981092
esv3375527 CNV duplication 20981092
esv3431828 CNV duplication 20981092
esv3566025 CNV deletion 23714750
esv3566027 CNV deletion 23714750
esv3605299 CNV loss 21293372
esv3605300 CNV loss 21293372
esv3605301 CNV loss 21293372
esv8314 CNV gain 19470904
nsv1073887 CNV deletion 25765185
nsv1115692 CNV duplication 24896259
nsv474000 CNV novel sequence insertion 20440878
nsv477387 CNV novel sequence insertion 20440878
nsv4863 CNV insertion 18451855
nsv512852 CNV insertion 21212237
nsv830325 CNV gain 17160897
nsv968184 CNV duplication 23825009
nsv980650 CNV duplication 23825009

Variation tolerance for ADAMTS6 Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.19; 52.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADAMTS6 Gene

Human Gene Mutation Database (HGMD)
ADAMTS6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS6 Gene

Disorders for ADAMTS6 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADAMTS6 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
inguinal hernia
  • hernia inguinal
weill-marchesani syndrome
  • wms
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTS6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADAMTS6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS6 Gene

Publications for ADAMTS6 Gene

  1. ADAM-TS5, ADAM-TS6, and ADAM-TS7, novel members of a new family of zinc metalloproteases. General features and genomic distribution of the ADAM-TS family. (PMID: 10464288) Hurskainen TL … Apte SS (The Journal of biological chemistry 1999) 2 3 4 23 56
  2. Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control. (PMID: 16129570) Bevitt DJ … McKie N (Gene 2005) 3 4 23 56
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  4. Expression of ADAMTS metalloproteinases in the retinal pigment epithelium derived cell line ARPE-19: transcriptional regulation by TNFalpha. (PMID: 12697333) Bevitt DJ … McKie N (Biochimica et biophysica acta 2003) 4 23 56
  5. Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. (PMID: 30012220) Prins BP … Jamshidi Y (Genome biology 2018) 3 56

ExternalLinks

View latest publications for ADAMTS6 gene in Mastermind

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