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 O-linked glycosylation and Metabolism of 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
- 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 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:
-
- IRF-7A
- Sox9
- IRF-2
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- AML1a
- Hand1
- E47
- Evi-1
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)
- 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 Entrez Gene
- 5q12.3 by HGNC
- 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
Protein Expression for ADAMTS6 Gene
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 Asn956, Asn724, Asn234, posLast=222222, posLast=172172, and Asn99
- 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
- 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 HPV18 LCR reporter activity
- Decreased shRNA abundance (Z-score < -2)
- Dynamic nuclei (hole, folded or small irregular)
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased caspase 3/7 activity
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
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miRNA for ADAMTS6 Gene
- miRTarBase miRNAs that target ADAMTS6
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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 | -- |
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:0035904 | aorta development | IEA | -- |
| GO:0060976 | coronary vasculature development | 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 :
-
- ENST00000381055 7311 bps (uc003jtp.4)
- ENST00000381052 6956 bps (uc063dzd.1)
- ENST00000314351 1322 bps (uc063dze.1)
- ENST00000417396 550 bps (uc063dzf.1)
- ENST00000470597 2850 bps (uc063dzg.1)
Unigene Clusters for ADAMTS6 Gene
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- Sino Biological Human cDNA Clone for ADAMTS6
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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
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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-
OriGene qPCR primer pairs for ADAMTS6
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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 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ADAMTS6 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ADAMTS6 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ADAMTS6 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Adamts6 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Adamts6 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ADAMTS6 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ADAMTS6 34 33 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | adamts6 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | adamts6 34 33 |
|
OneToOne | |
| 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)
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
| 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
- ADAMTS6 suppresses tumor progression via the ERK signaling pathway and serves as a prognostic marker in human breast cancer. (PMID: 27542224) Xie Y … Zheng H (Oncotarget 2016) 3 58
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- Boster Bio Antibodies for ADAMTS6
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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
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt