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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 56
  • EC 3.4.24.14 56
  • EC 3.4.24.- 4
  • EC 3.4.24 56
  • 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 Mongolian Spot and Spinal Cord Astrocytoma. Among its related pathways are Metabolism of proteins and O-linked glycosylation. Gene Ontology (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, at the 1938-Glu- -Leu-1939 site (within the chondroitin sulfate attachment domain), 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ADAMTS1 Gene

Promoters and enhancers for ADAMTS1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I026841 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 562.4 +0.7 666 6.1 PKNOX1 FOXA2 SIN3A FEZF1 GLI4 ZNF48 ZNF2 YY1 GLIS2 ZNF213 ADAMTS1 GC21M026844 ADAMTS5 CYYR1
GH21I026961 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.4 -119.8 -119758 6.7 CTCF MXI1 USF1 SUZ12 MAX CEBPG ZIC2 RAD21 E2F1 ZNF335 ADAMTS5 ADAMTS1 MIR4759
GH21I026813 Enhancer 0.5 ENCODE 11.3 +30.6 30587 2.5 CTCF ZNF654 ZNF10 ZSCAN4 ZFP37 CEBPB EP300 ADAMTS1 GC21M026844 CYYR1
GH21I026799 Enhancer 1.3 FANTOM5 Ensembl ENCODE 2.1 +44.2 44153 3.3 ZSCAN5A PKNOX1 JUN ZNF529 MZF1 FEZF1 ZFHX2 ZNF302 ZNF214 EGR2 ENSG00000232692 ADAMTS1 GC21M026844 CYYR1
GH21I026839 Enhancer 1 ENCODE dbSUPER 0.8 +4.7 4744 1.7 ZSCAN4 RAD21 ZNF366 SCRT2 ATF7 ZNF391 SP3 ZNF362 USF2 CEBPB ADAMTS1 GC21M026844 CYYR1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ADAMTS1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADAMTS1 gene promoter:

Genomic Locations for ADAMTS1 Gene

Genomic Locations for ADAMTS1 Gene
chr21:26,835,747-26,845,409
(GRCh38/hg38)
Size:
9,663 bases
Orientation:
Minus strand
chr21:28,208,066-28,217,728
(GRCh37/hg19)

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 posLast=735735
  • Glycosylation at posLast=170170, posLast=197197, posLast=208208, Asn547, posLast=720720, and posLast=764764
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS1 Gene

Domains & Families for ADAMTS1 Gene

Gene Families for ADAMTS1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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 Function:
Cleaves aggrecan, a cartilage proteoglycan, at the 1938-Glu- -Leu-1939 site (within the chondroitin sulfate attachment domain), 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

Phenotypes From GWAS Catalog 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

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADAMTS1 Gene

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 154
Chondroitin sulfate Approved, Investigational Nutra 0
hmg coa reductase inhibitors Pharma 0
Chondroitin Nutra 48

(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:

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

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 33 34
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia ADAMTS1 33 34
  • 84.53 (n)
cow
(Bos Taurus)
Mammalia ADAMTS1 33 34
  • 83.65 (n)
rat
(Rattus norvegicus)
Mammalia Adamts1 33
  • 81.6 (n)
mouse
(Mus musculus)
Mammalia Adamts1 33 16 34
  • 81.04 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS1 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS1 33 34
  • 74.53 (n)
lizard
(Anolis carolinensis)
Reptilia ADAMTS1 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adamts1 33
  • 71.35 (n)
zebrafish
(Danio rerio)
Actinopterygii adamts1 33 34
  • 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 Variation AA Info Type
rs1000124274 -- 26,839,478(-) T/C intron_variant
rs1000237600 -- 26,839,733(-) C/T coding_sequence_variant, missense_variant
rs1000248134 -- 26,842,818(-) T/C intron_variant
rs1000328136 -- 26,845,506(-) G/A upstream_transcript_variant
rs1000846019 -- 26,845,705(-) C/T upstream_transcript_variant

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)

Additional Variant Information 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

(8) MalaCards diseases for ADAMTS1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mongolian spot
  • mongolian macula
spinal cord astrocytoma
  • astrocytoma of spinal cord
brown-sequard syndrome
  • brown-squard syndrome
spinal cord disease
  • myelopathy
aortic disease
  • aortic disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ADAMTS1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Vázquez F … Iruela-Arispe ML (The Journal of biological chemistry 1999) 2 3 4 22 58
  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 WM (Journal of molecular biology 2007) 3 4 22 58
  3. ADAMTS1 is a unique hypoxic early response gene expressed by endothelial cells. (PMID: 19349275) Hatipoglu OF … Ninomiya Y (The Journal of biological chemistry 2009) 3 22 58
  4. The 3'-untranslated region of ADAMTS1 regulates its mRNA stability. (PMID: 19404339) Hatipoglu OF … Ninomiya Y (Acta medica Okayama 2009) 3 22 58
  5. Gene variants associated with ischemic stroke: the cardiovascular health study. (PMID: 19023099) Luke MM … Psaty BM (Stroke 2009) 3 44 58

Products for ADAMTS1 Gene

Sources for ADAMTS1 Gene

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