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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
- ADAM-TS6 2 3 4
- A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 6 2 3
- ADAM-TS 6 3 4
- ADAMTS-6 3 4
- EC 3.4.24.82 51
- EC 3.4.24.- 4
- ADAMTS6 5
External Ids for ADAMTS6 Gene
- HGNC: 222
- Entrez Gene: 11174
- Ensembl: ENSG00000049192
- OMIM: 605008
- UniProtKB: Q9UKP5
Previous GeneCards Identifiers for ADAMTS6 Gene
- GC05M064657
- GC05M066048
- GC05M064480
- GC05M064526
- GC05M064545
- GC05M061399
Summaries 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 Metabolism of proteins 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
- HGNC(222)
- Entrez Gene(11174)
- Ensembl(ENSG00000049192)
- OMIM(605008)
- UniProtKB(Q9UKP5)
- Open Targets Platform(ENSG00000049192)
- Monarch Initiative
- Search for ADAMTS6 at DataMed
- Search for ADAMTS6 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADAMTS6
- 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
- chr5:65,148,736-65,482,663
- (GRCh38/hg38)
- Size:
- 333,928 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:
-
- 5q12.3 by HGNC
- 5q12.3 by Entrez Gene
- 5q12.3 by Ensembl
ADAMTS6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
- Miscellaneous:
-
- [Isoform 2]: Contains critical point mutations in the region encoding the catalytic domain as well as 2 point mutations compared with genomic sequence. May either be a rare polymorphism or may have arisen through a combination of aberrant RNA editing and point mutation/sequencing error.
Protein Expression for ADAMTS6 Gene
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
- NX_Q9UKP5 (NX_Q9UKP5-1)
- Modification sites at PhosphoSitePlus
Other Protein References for ADAMTS6 Gene
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-
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Protein Products
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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
- InterPro:
- Blocks:
-
- Disintegrin
- Thrombospondin type 1 repeat signature
- Metalloendopeptidase M12B
- 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
Q9UKP5UniProtKB/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.
Function for ADAMTS6 Gene
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
| 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 | -- |
Phenotypes for ADAMTS6 Gene
- MGI mutant phenotypes for ADAMTS6:
- inferred from 9 alleles
- GenomeRNAi human phenotypes for ADAMTS6:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- shRNA abundance <= 50%
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance (Z-score < -2)
- Increased HPV18 LCR reporter activity
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Increased shRNA abundance (Z-score > 2)
- Decreased caspase 3/7 activity
Animal Model Products
-
Taconic Biosciences Mouse Models for ADAMTS6
CRISPR Products
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miRNA for ADAMTS6 Gene
- miRTarBase miRNAs that target ADAMTS6
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Cell Line Products
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Horizon Cell Lines for ADAMTS6
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.
| Compartment | Confidence |
|---|---|
| extracellular | 4 |
| plasma membrane | 3 |
| nucleus | 3 |
| cytoskeleton | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0031012 | extracellular matrix | IBA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAMTS6 Gene
Pathways & Interactions for ADAMTS6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | O-glycosylation of TSR domain-containing proteins | ||
| 2 | Diseases of glycosylation | ||
| 3 | Metabolism of proteins | ||
| 4 | HIV Life Cycle |
.45
|
|
| 5 | O-linked glycosylation | ||
Pathways by source for ADAMTS6 Gene
8 Reactome pathways for ADAMTS6 Gene
Interacting Proteins for ADAMTS6 Gene
GPS-Prot Interaction Network for ADAMTS6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003279 | cardiac septum development | IEA | -- |
| GO:0006508 | proteolysis | IEA | -- |
| GO:0007507 | heart development | IEA | -- |
| GO:0030198 | extracellular matrix organization | IBA | 21873635 |
| GO:0035904 | aorta development | IEA | -- |
No data available for SIGNOR curated interactions for ADAMTS6 Gene
Transcripts for ADAMTS6 Gene
mRNA/cDNA for ADAMTS6 Gene
- 1 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000381055 7309 nts (view in UCSC)
- ENST00000381052 6956 nts (view in UCSC)
- ENST00000314351 1322 nts (view in UCSC)
- ENST00000417396 550 nts (view in UCSC)
- ENST00000470597 2850 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ADAMTS6 - Select products 50% OFF >
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-
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-
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- Sino Biological Human cDNA Clone for ADAMTS6
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Relevant External Links for ADAMTS6 Gene
- GeneLoc Exon Structure for
- ADAMTS6
Expression for ADAMTS6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Cartilage (Muscoskeletal System)
- Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
- NULL (Uncategorized)
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADAMTS6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADAMTS6
SOURCE GeneReport for Unigene cluster for ADAMTS6 Gene:
Hs.482291mRNA 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(4.3)
Primer Products
-
OriGene qPCR primer pairs for ADAMTS6
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ADAMTS6 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ADAMTS6 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ADAMTS6 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ADAMTS6 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Adamts6 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Adamts6 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ADAMTS6 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ADAMTS6 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | adamts6 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | adamts6 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG14869 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | gon-1 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for ADAMTS6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Variants for ADAMTS6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADAMTS6 Gene
| SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 786057 | Benign: not provided | 65,224,338(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS6 Gene
Disorders for ADAMTS6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| inguinal hernia |
|
|
| weill-marchesani syndrome |
|
|
| keratoconus |
|
|
| geleophysic dysplasia |
|
|
Search ADAMTS6 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for ADAMTS6
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS6 Gene
Publications for ADAMTS6 Gene
- 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
- 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
- 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 41
- 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
- Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6. (PMID: 30012220) Prins BP … Jamshidi Y (Genome biology 2018) 3
ExternalLinks
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Sources for ADAMTS6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
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