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Aliases for ADAMTS1 Gene

Aliases for ADAMTS1 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 1 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 1 2 3
  • ADAM-TS 1 3 4
  • ADAM-TS1 3 4
  • ADAMTS-1 3 4
  • METH-1 3 4
  • METH1 3 4
  • A Disintegrin And Metalloproteinase With Thrombospondin Motifs 1 3
  • Human Metalloproteinase With Thrombospondin Type 1 Motifs 3
  • EC 3.4.24.82 61
  • EC 3.4.24.14 61
  • EC 3.4.24.- 4
  • EC 3.4.24 61
  • KIAA1346 4
  • C3-C5 3

External Ids for ADAMTS1 Gene

Previous GeneCards Identifiers for ADAMTS1 Gene

  • GC21M024787
  • GC21M027130
  • GC21M028208
  • GC21M013613

Summaries for ADAMTS1 Gene

Entrez Gene Summary for ADAMTS1 Gene

  • This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) 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 protein encoded by this gene contains two disintegrin loops and three C-terminal TS motifs and has anti-angiogenic activity. The expression of this gene may be associated with various inflammatory processes as well as development of cancer cachexia. This gene is likely to be necessary for normal growth, fertility, and organ morphology and function. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADAMTS1 Gene

ADAMTS1 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 1) is a Protein Coding gene. Diseases associated with ADAMTS1 include Type 2A Von Willebrand Disease and Verrucous Keratotic Hemangioma. Among its related pathways are Degradation of the extracellular matrix and Adhesion. GO annotations related to this gene include heparin binding and metallopeptidase activity. An important paralog of this gene is ADAMTS15.

UniProtKB/Swiss-Prot for ADAMTS1 Gene

  • Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover (By similarity). Has angiogenic inhibitor activity. Active metalloprotease, which may be associated with various inflammatory processes as well as development of cancer cachexia. May play a critical role in follicular rupture.

Gene Wiki entry for ADAMTS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS1 Gene

Genomics for ADAMTS1 Gene

Regulatory Elements for ADAMTS1 Gene

Enhancers for ADAMTS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G026961 1.8 FANTOM5 Ensembl ENCODE dbSUPER 4.4 -119.8 -119758 6.7 TBP ELF3 RAD21 YY1 GATA2 SCRT2 FOS ZHX1 ZNF263 ZNF202 ADAMTS5 ADAMTS1 MIR4759
GH21G026841 1.7 FANTOM5 ENCODE dbSUPER 4.1 +0.7 666 6.1 PKNOX1 FOXA2 SIN3A FEZF1 GLI4 ZNF48 ZNF2 YY1 GLIS2 KLF7 ADAMTS1 ADAMTS5 GC21M026844 CYYR1
GH21G026813 0.6 ENCODE 11.3 +30.6 30587 2.5 CTCF ZNF654 ZSCAN4 ZNF10 ZFP37 CEBPB EP300 ADAMTS1 GC21M026844 CYYR1
GH21G026799 1.4 FANTOM5 Ensembl ENCODE 2.1 +44.2 44154 3.3 GTF2F1 TBP ZSCAN5A PKNOX1 JUN FEZF1 ZFHX2 ZNF302 EGR2 ZNF280D ADAMTS1 GC21M026844 CYYR1
GH21G026916 0.6 FANTOM5 ENCODE 1.9 -71.3 -71307 1.0 TEAD4 ADAMTS5 LOC105372760 ADAMTS1 GC21M026919
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAMTS1 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000140881 509 4601 PKNOX1 SIN3A FEZF1 GLI4 ZNF48 ZNF2 YY1 GLIS2 KLF7 FOS

Genomic Location for ADAMTS1 Gene

Chromosome:
21
Start:
26,835,747 bp from pter
End:
26,845,409 bp from pter
Size:
9,663 bases
Orientation:
Minus strand

Genomic View for ADAMTS1 Gene

Genes around ADAMTS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS1 Gene

Proteins for ADAMTS1 Gene

  • Protein details for ADAMTS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UHI8-ATS1_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 1
    Protein Accession:
    Q9UHI8
    Secondary Accessions:
    • D3DSD5
    • Q9NSJ8
    • Q9P2K0
    • Q9UH83
    • Q9UP80

    Protein attributes for ADAMTS1 Gene

    Size:
    967 amino acids
    Molecular mass:
    105358 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD48080.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92584.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ADAMTS1 Gene

neXtProt entry for ADAMTS1 Gene

Selected DME Specific Peptides for ADAMTS1 Gene

Q9UHI8:
  • GLKHYLLT
  • DTAILFTRQ
  • VIEDDGL
  • CSRTCGGGV
  • SCSVIED
  • CDTLGMADVGT
  • HFPWADGTSCGEGK
  • KHPSIRN
  • CDPSRSCS
  • DKCGVCGG
  • AHELGHVF
  • GQCVKAGCD
  • PWGDCSR
  • SKKKFDKC

Post-translational modifications for ADAMTS1 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.
  • Ubiquitination at Lys735
  • Glycosylation at Thr170, Thr197, posLast=208208, posLast=547547, Asn720, and Asn764
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ADAMTS1 (ADAMTS1)

Assay Products

  • Cloud-Clone Corp. Assay Kits for ADAMTS1

Domains & Families for ADAMTS1 Gene

Gene Families for ADAMTS1 Gene

Suggested Antigen Peptide Sequences for ADAMTS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UHI8

UniProtKB/Swiss-Prot:

ATS1_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.
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
genes like me logo Genes that share domains with ADAMTS1: view

Function for ADAMTS1 Gene

Molecular function for ADAMTS1 Gene

GENATLAS Biochemistry:
a disintegrin-like and metalloprotease domain (reprolysin type) with thrombospondin type 1 motif 1,extracellular matrix protein,inflammation-induced gene inhibiting endothelial cell proliferation,vascular endothelial growth factor induced angiogenesis
UniProtKB/Swiss-Prot CatalyticActivity:
Cleaves aggrecan at the 1938-Glu- -Leu-1939 site, within the chondroitin sulfate attachment domain.
UniProtKB/Swiss-Prot Function:
Cleaves aggrecan, a cartilage proteoglycan, and may be involved in its turnover (By similarity). Has angiogenic inhibitor activity. Active metalloprotease, which may be associated with various inflammatory processes as well as development of cancer cachexia. May play a critical role in follicular rupture.

Enzyme Numbers (IUBMB) for ADAMTS1 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008201 heparin binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA,TAS 10438512
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ADAMTS1: view
genes like me logo Genes that share phenotypes with ADAMTS1: view

Animal Models for ADAMTS1 Gene

MGI Knock Outs for ADAMTS1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADAMTS1

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADAMTS1 Gene

Localization for ADAMTS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS1 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 ADAMTS1 gene
Compartment Confidence
cytosol 5
extracellular 4
plasma membrane 3
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ADAMTS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005604 basement membrane IEA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ADAMTS1: view

Pathways & Interactions for ADAMTS1 Gene

genes like me logo Genes that share pathways with ADAMTS1: view

Pathways by source for ADAMTS1 Gene

Gene Ontology (GO) - Biological Process for ADAMTS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001542 ovulation from ovarian follicle IEA --
GO:0001822 kidney development IEA --
GO:0006508 proteolysis IEA --
GO:0007229 integrin-mediated signaling pathway TAS 8995297
GO:0008285 negative regulation of cell proliferation TAS 10438512
genes like me logo Genes that share ontologies with ADAMTS1: view

No data available for SIGNOR curated interactions for ADAMTS1 Gene

Drugs & Compounds for ADAMTS1 Gene

(9) Drugs for ADAMTS1 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pravastatin Approved Pharma Competitive, Inhibitor 150
Chondroitin sulfate Approved Nutra 0
hmg coa reductase inhibitors Pharma 0
Chondroitin Nutra 44

(1) Additional Compounds for ADAMTS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ADAMTS1: view

Transcripts for ADAMTS1 Gene

Unigene Clusters for ADAMTS1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:

Relevant External Links for ADAMTS1 Gene

GeneLoc Exon Structure for
ADAMTS1
ECgene alternative splicing isoforms for
ADAMTS1

Expression for ADAMTS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS1 Gene

mRNA differential expression in normal tissues according to GTEx for ADAMTS1 Gene

This gene is overexpressed in Ovary (x5.5) and Artery - Tibial (x4.0).

Protein differential expression in normal tissues from HIPED for ADAMTS1 Gene

This gene is overexpressed in Cerebrospinal fluid (41.3), Vitreous humor (8.4), Bone marrow mesenchymal stem cell (6.3), and Breast (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ADAMTS1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ADAMTS1 Gene:

ADAMTS1

SOURCE GeneReport for Unigene cluster for ADAMTS1 Gene:

Hs.643357

Evidence on tissue expression from TISSUES for ADAMTS1 Gene

  • Nervous system(4.7)
  • Heart(4.6)
  • Lung(2.5)
  • Muscle(2.5)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with ADAMTS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS1 Gene

Orthologs for ADAMTS1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ADAMTS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS1 34 35
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia ADAMTS1 34 35
  • 84.53 (n)
cow
(Bos Taurus)
Mammalia ADAMTS1 34 35
  • 83.65 (n)
rat
(Rattus norvegicus)
Mammalia Adamts1 34
  • 81.6 (n)
mouse
(Mus musculus)
Mammalia Adamts1 34 16 35
  • 81.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS1 34 35
  • 74.53 (n)
lizard
(Anolis carolinensis)
Reptilia ADAMTS1 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts1 34
  • 71.35 (n)
zebrafish
(Danio rerio)
Actinopterygii adamts1 34 35
  • 62.3 (n)
Species where no ortholog for ADAMTS1 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for ADAMTS1 Gene

ENSEMBL:
Gene Tree for ADAMTS1 (if available)
TreeFam:
Gene Tree for ADAMTS1 (if available)

Paralogs for ADAMTS1 Gene

Variants for ADAMTS1 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS1 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1000124274 -- 26,839,478(+) TGAAA(C/T)TGAAG intron-variant
rs1000237600 -- 26,839,733(+) GTGTG(C/T)TTCAC reference, missense
rs1000248134 -- 26,842,818(+) AAAAA(C/T)ATTTG intron-variant
rs1000328136 -- 26,845,506(+) AAGAC(A/G)CCGCC upstream-variant-2KB
rs1000846019 -- 26,845,705(+) GGTTT(C/T)CTGGA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS1 Gene

Variant ID Type Subtype PubMed ID
nsv1066573 CNV gain 25217958
nsv3482 CNV deletion 18451855
nsv470897 CNV loss 18288195
nsv528278 CNV gain 19592680
nsv834068 CNV loss 17160897
nsv953351 CNV deletion 24416366

Variation tolerance for ADAMTS1 Gene

Residual Variation Intolerance Score: 30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.70; 66.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS1 Gene

Human Gene Mutation Database (HGMD)
ADAMTS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS1 Gene

Disorders for ADAMTS1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for ADAMTS1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
type 2a von willebrand disease
  • von willebrand disease type iia
verrucous keratotic hemangioma
brown-sequard syndrome
  • brown-squard syndrome
mongolian spot
  • mongolian macula
spinal cord disease
  • myelopathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ADAMTS1

Genetic Association Database (GAD)
ADAMTS1
Human Genome Epidemiology (HuGE) Navigator
ADAMTS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS1
genes like me logo Genes that share disorders with ADAMTS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADAMTS1 Gene

Publications for ADAMTS1 Gene

  1. METH-1, a human ortholog of ADAMTS-1, and METH-2 are members of a new family of proteins with angio-inhibitory activity. (PMID: 10438512) Vazquez F. … Iruela-Arispe M.L. (J. Biol. Chem. 1999) 2 3 4 22 64
  2. Crystal structures of human ADAMTS-1 reveal a conserved catalytic domain and a disintegrin-like domain with a fold homologous to cysteine-rich domains. (PMID: 17897672) Gerhardt S. … Abbott W.M. (J. Mol. Biol. 2007) 3 4 22 64
  3. ADAMTS1 is a unique hypoxic early response gene expressed by endothelial cells. (PMID: 19349275) Hatipoglu O.F. … Ninomiya Y. (J. Biol. Chem. 2009) 3 22 64
  4. The 3'-untranslated region of ADAMTS1 regulates its mRNA stability. (PMID: 19404339) Hatipoglu O.F. … Ninomiya Y. (Acta Med. Okayama 2009) 3 22 64
  5. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke M.M. … Psaty B.M. (Stroke 2009) 3 46 64

Products for ADAMTS1 Gene

Sources for ADAMTS1 Gene

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