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Aliases for ADAMTS6 Gene

Aliases for ADAMTS6 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 6 2 3 5
  • 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
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 6 2
  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 6 3
  • EC 3.4.24.82 63
  • 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 coffin-siris syndrome. Among its related pathways are O-glycosylation of TSR domain-containing proteins and Infectious disease. GO annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is ADAMTS20.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS6 Gene

Genomics for ADAMTS6 Gene

Regulatory Elements for ADAMTS6 Gene

Enhancers for ADAMTS6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ADAMTS6 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADAMTS6 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADAMTS6 Gene

Chromosome:
5
Start:
65,148,736 bp from pter
End:
65,482,027 bp from pter
Size:
333,292 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 StructureGene Density

RefSeq DNA sequence for ADAMTS6 Gene

Proteins for ADAMTS6 Gene

  • 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

Proteomics data for ADAMTS6 Gene at MOPED

Selected DME Specific Peptides for ADAMTS6 Gene

Post-translational modifications for ADAMTS6 Gene

  • 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).
  • The precursor is cleaved by a furin endopeptidase.
  • Glycosylation at Asn 99, Asn 172, Asn 222, Asn 234, Asn 724, and Asn 956
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADAMTS6 Gene

Gene Families for ADAMTS6 Gene

Suggested Antigen Peptide Sequences for ADAMTS6 Gene

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.
  • Contains 1 disintegrin domain.
  • Contains 1 peptidase M12B domain.
  • Contains 1 PLAC domain.
  • Contains 5 TSP type-1 domains.
genes like me logo Genes that share domains with ADAMTS6: view

Function for ADAMTS6 Gene

Molecular function for ADAMTS6 Gene

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
UniProtKB/Swiss-Prot Induction:
Isoform 1 and isoform 2 expressions are up-regulated by TNF in retinal pigment epithelial cells.

Enzyme Numbers (IUBMB) for ADAMTS6 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity 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

miRNA for ADAMTS6 Gene

miRTarBase miRNAs that target ADAMTS6

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for ADAMTS6 Gene COMPARTMENTS Subcellular localization image for ADAMTS6 gene
Compartment Confidence
extracellular 4
nucleus 3
plasma membrane 3
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for ADAMTS6 Gene

Pathways & Interactions for ADAMTS6 Gene

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

Interacting Proteins for ADAMTS6 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000370443%0d%0a9606.ENSP00000356480%0d%0a
Selected Interacting proteins: Q9UKP5-ATS6_HUMAN ENSP00000370443 for ADAMTS6 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for ADAMTS6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0035904 aorta 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

No Compound Related Data Available

Transcripts for ADAMTS6 Gene

Unigene Clusters for ADAMTS6 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 6:
Representative Sequences:

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

mRNA expression in normal human tissues 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



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.
genes like me logo Genes that share expression patterns with ADAMTS6: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia ADAMTS6 35
  • 95.88 (n)
  • 98.12 (a)
ADAMTS6 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADAMTS6 35
  • 95.88 (n)
  • 98.48 (a)
ADAMTS6 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adamts6 35
  • 92.84 (n)
  • 95.97 (a)
Adamts6 16
Adamts6 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS6 35
  • 99.7 (n)
  • 99.91 (a)
ADAMTS6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adamts6 35
  • 92.18 (n)
  • 95.79 (a)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS6 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS6 36
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS6 35
  • 87.44 (n)
  • 92.66 (a)
ADAMTS6 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts6 35
  • 81.56 (n)
  • 89.62 (a)
zebrafish
(Danio rerio)
Actinopterygii adamts6 35
  • 75.21 (n)
  • 83.27 (a)
adamts6 36
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14869 36
  • 19 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gon-1 36
  • 16 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for ADAMTS6:
  • 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)

Paralogs for ADAMTS6 Gene

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

Variants for ADAMTS6 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs715676 -- 65,154,646(+) CAGAT(A/T)CTTCA intron-variant
rs786538 -- 65,461,031(+) acagg(A/C)tcaga intron-variant, upstream-variant-2KB
rs786699 -- 65,379,654(+) CAGTG(A/C)CCCCG intron-variant
rs786700 -- 65,382,494(+) ATGTA(C/T)TGATG intron-variant
rs786701 -- 65,397,098(+) atttc(C/T)tctct intron-variant

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

Variant ID Type Subtype PubMed ID
dgv6083n71 CNV Gain 21882294
dgv6084n71 CNV Gain 21882294
nsv4863 CNV Insertion 18451855
nsv512852 CNV Insertion 21212237
nsv830325 CNV Gain 17160897
esv2730275 CNV Deletion 23290073
esv8314 CNV Gain 19470904
esv26770 CNV Loss 19812545
esv2672410 CNV Deletion 23128226
esv2730276 CNV Deletion 23290073

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)

Relevant External Links for ADAMTS6 Gene

HapMap Linkage Disequilibrium report
ADAMTS6
Human Gene Mutation Database (HGMD)
ADAMTS6

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

Disorders for ADAMTS6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADAMTS6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
coffin-siris syndrome
  • dwarfism-onychodysplasia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ADAMTS6

Genetic Association Database (GAD)
ADAMTS6
Human Genome Epidemiology (HuGE) Navigator
ADAMTS6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS6
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. (PMID: 10464288) Hurskainen T.L. … Apte S.S. (J. Biol. Chem. 1999) 2 3 4 23 67
  2. Analysis of full length ADAMTS6 transcript reveals alternative splicing and a role for the 5' untranslated region in translational control. (PMID: 16129570) Bevitt D.J. … McKie N. (Gene 2005) 3 23
  3. The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family. (PMID: 26025392) Kelwick R. … Edwards D.R. (Genome Biol. 2015) 3
  4. The central role of EED in the orchestration of polycomb group complexes. (PMID: 24457600) Cao Q. … Chinnaiyan A.M. (Nat Commun 2014) 3
  5. Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay. (PMID: 25250687) Malli T. … Webersinke G. (Am. J. Med. Genet. A 2014) 3

Products for ADAMTS6 Gene

Sources for ADAMTS6 Gene

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