Aliases for ADAMTS6 Gene
Aliases for ADAMTS6 Gene
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-linked glycosylation. 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
- Monarch Initiative
- Search for ADAMTS6 at DataMed
- Search for ADAMTS6 at HumanCyc
No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 dump
GeneHancers around ADAMTS6 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ADAMTS6 gene promoter:
Regulatory Element Products
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)
Genomic View for ADAMTS6 Gene
Genes around ADAMTS6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q12.3 by Ensembl
- 5q12.3 by Entrez Gene
- 5q12.3 by HGNC
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
Protein Expression for ADAMTS6 Gene
Selected DME Specific Peptides for ADAMTS6 Gene
- Q9UKP5:
-
- VETLVVAD
- CSRTCGGGV
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 Asn99, posLast=172172, Asn222, Asn234, Asn724, and Asn956
- Modification sites at PhosphoSitePlus
Other Protein References for ADAMTS6 Gene
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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
Suggested Antigen Peptide Sequences for ADAMTS6 Gene
- GenScript: Design optimal peptide antigens:
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
- 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
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:0008270 | zinc ion binding | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for ADAMTS6 Gene
- MGI mutant phenotypes for ADAMTS6:
- inferred from 9 alleles
- GenomeRNAi human phenotypes for ADAMTS6:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Increased shRNA abundance (Z-score > 2)
- Dynamic nuclei (hole, folded or small irregular)
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased transferrin (TF) endocytosis
- Increased HPV18 LCR reporter activity
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased caspase 3/7 activity
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miRNA for ADAMTS6 Gene
- miRTarBase miRNAs that target ADAMTS6
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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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 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005578 | proteinaceous extracellular matrix | IEA | -- |
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA | -- |
No data available for SIGNOR curated interactions for ADAMTS6 Gene
Transcripts for ADAMTS6 Gene
mRNA/cDNA for ADAMTS6 Gene
- (15) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (183) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ADAMTS6 Gene
CRISPR Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for ADAMTS6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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, PaxDb, and MOPED for ADAMTS6 Gene
NURSA nuclear receptor signaling pathways regulating expression of ADAMTS6 Gene:
ADAMTS6SOURCE 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)
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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 33 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ADAMTS6 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ADAMTS6 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | ADAMTS6 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Adamts6 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Adamts6 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ADAMTS6 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ADAMTS6 33 34 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | adamts6 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | adamts6 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG14869 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | gon-1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
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)
Paralogs for ADAMTS6 Gene
Paralogs for ADAMTS6 Gene
(13) SIMAP similar genes for ADAMTS6 Gene using alignment to 3 proteins:
Variants 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 |
| 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 |
|
|
| coffin-siris syndrome 1 |
|
|
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
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 22 58
- 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 22 58
- 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 44 58
- 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 22 58
- The ADAMTS (A Disintegrin and Metalloproteinase with Thrombospondin motifs) family. (PMID: 26025392) Kelwick R … Edwards DR (Genome biology 2015) 3 58
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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- genomics-online: gRNA clones - Search results for 45 available ADAMTS6 gene related products
- Overview of 45 available ADAMTS6 gene related products
- genomics-online: primer clones - Search results for 45 available ADAMTS6 gene related products
- Overview of 45 available ADAMTS6 gene related products
- genomics-online: shRNA clones - Search results for 45 available ADAMTS6 gene related products
- Overview of 45 available ADAMTS6 gene related products
Sources for ADAMTS6 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems