Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ADAMTS9 Gene

Aliases for ADAMTS9 Gene

  • ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9 2 3 5
  • A Disintegrin-Like And Metalloprotease (Reprolysin Type) With Thrombospondin Type 1 Motif, 9 2
  • EC 3.4.24.14 61
  • EC 3.4.24.82 61
  • EC 3.4.24.- 4
  • ADAM-TS 9 4
  • ADAM-TS9 4
  • ADAMTS-9 4
  • KIAA1312 4

External Ids for ADAMTS9 Gene

Previous GeneCards Identifiers for ADAMTS9 Gene

  • GC03M063400
  • GC03M063939
  • GC03M064356
  • GC03M064458
  • GC03M064476

Summaries for ADAMTS9 Gene

Entrez Gene Summary for ADAMTS9 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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]

GeneCards Summary for ADAMTS9 Gene

ADAMTS9 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 9) is a Protein Coding gene. Among its related pathways are Degradation of the extracellular matrix and O-glycosylation of TSR domain-containing proteins. GO annotations related to this gene include metalloendopeptidase activity and endopeptidase activity. An important paralog of this gene is ADAMTS20.

UniProtKB/Swiss-Prot for ADAMTS9 Gene

  • Cleaves the large aggregating proteoglycans, aggrecan and versican. Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos.

Gene Wiki entry for ADAMTS9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADAMTS9 Gene

Genomics for ADAMTS9 Gene

Regulatory Elements for ADAMTS9 Gene

Enhancers for ADAMTS9 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
GH03G064684 1.5 FANTOM5 ENCODE dbSUPER 20.3 +1.2 1239 5.4 PKNOX1 FOXA2 ARNT SIN3A FEZF1 GLI4 ZNF121 GLIS2 KLF7 FOS ADAMTS9 ADAMTS9-AS2
GH03G064665 1 Ensembl ENCODE dbSUPER 21.4 +21.9 21870 1.2 CTCF ETV6 NR3C1 NR2F2 ADAMTS9 ADAMTS9-AS2 GC03P064577 GC03P064578
GH03G064650 1 Ensembl ENCODE 11 +37.1 37121 1.7 CTCF PKNOX1 JUN FEZF1 ZIC2 ZBTB40 CTBP1 FOXK2 SCRT2 ETV6 ADAMTS9 ADAMTS9-AS2 GC03P064577 GC03P064578
GH03G064594 0.8 Ensembl ENCODE 10 +92.4 92415 1.4 JUN MAX FOS RAD21 NR2F2 ADAMTS9-AS1 ADAMTS9 GC03P064577 GC03P064578 ADAMTS9-AS2
GH03G064642 0.6 ENCODE 10.6 +44.9 44941 0.2 KLF17 ZIC2 ZSCAN16 ZNF341 WT1 TRIM28 TCF7L2 SP7 ADAMTS9 ADAMTS9-AS2 GC03P064577 GC03P064578
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADAMTS9 on UCSC Golden Path with GeneCards custom track

Promoters for ADAMTS9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000153743 1100 4600 PKNOX1 FOXA2 ARNT SIN3A FEZF1 GLI4 ZNF121 GLIS2 KLF7 FOS

Genomic Location for ADAMTS9 Gene

Chromosome:
3
Start:
64,515,654 bp from pter
End:
64,688,000 bp from pter
Size:
172,347 bases
Orientation:
Minus strand

Genomic View for ADAMTS9 Gene

Genes around ADAMTS9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADAMTS9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADAMTS9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADAMTS9 Gene

Proteins for ADAMTS9 Gene

  • Protein details for ADAMTS9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2N4-ATS9_HUMAN
    Recommended name:
    A disintegrin and metalloproteinase with thrombospondin motifs 9
    Protein Accession:
    Q9P2N4
    Secondary Accessions:
    • A1L4L0
    • B7ZVX9
    • B9ZVN0
    • Q9NR29

    Protein attributes for ADAMTS9 Gene

    Size:
    1935 amino acids
    Molecular mass:
    216491 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADAMTS9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADAMTS9 Gene

Selected DME Specific Peptides for ADAMTS9 Gene

Q9P2N4:
  • VCGGDNS
  • DKCGVCGG
  • AHELGHVF

Post-translational modifications for ADAMTS9 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 posLast=112112, posLast=135135, Asn271, posLast=749749, Asn840, Asn1213, Asn1267, Asn1788, and Asn1806
  • Modification sites at PhosphoSitePlus

Other Protein References for ADAMTS9 Gene

Domains & Families for ADAMTS9 Gene

Gene Families for ADAMTS9 Gene

Suggested Antigen Peptide Sequences for ADAMTS9 Gene

Graphical View of Domain Structure for InterPro Entry

Q9P2N4

UniProtKB/Swiss-Prot:

ATS9_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 ancillary domains, including the TSRs domain, are required for specific extracellular localization and for its versicanase and aggrecanase activities.
  • 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.
  • The GON domain mediates protease-independent function in ER to Golgi transport.
genes like me logo Genes that share domains with ADAMTS9: view

Function for ADAMTS9 Gene

Molecular function for ADAMTS9 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Cleaves aggrecan at the 1838-Glu- -Ala-1839 site and versican at the 1428-Glu- -Ala-1429 site.
UniProtKB/Swiss-Prot Function:
Cleaves the large aggregating proteoglycans, aggrecan and versican. Has a protease-independent function in promoting the transport from the endoplasmic reticulum to the Golgi apparatus of a variety of secretory cargos.

Enzyme Numbers (IUBMB) for ADAMTS9 Gene

Gene Ontology (GO) - Molecular Function for ADAMTS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA,IDA 12514189
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with ADAMTS9: view
genes like me logo Genes that share phenotypes with ADAMTS9: view

Animal Models for ADAMTS9 Gene

MGI Knock Outs for ADAMTS9:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADAMTS9 Gene

Localization for ADAMTS9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADAMTS9 Gene

Secreted, extracellular space, extracellular matrix. Endoplasmic reticulum.

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 ADAMTS9 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 3
plasma membrane 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ADAMTS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IDA 12514189
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with ADAMTS9: view

Pathways & Interactions for ADAMTS9 Gene

genes like me logo Genes that share pathways with ADAMTS9: view

Gene Ontology (GO) - Biological Process for ADAMTS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA,IDA 12514189
GO:0006516 glycoprotein catabolic process TAS 10936055
GO:0006810 transport IEA --
GO:0007275 multicellular organism development TAS 10936055
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with ADAMTS9: view

No data available for SIGNOR curated interactions for ADAMTS9 Gene

Drugs & Compounds for ADAMTS9 Gene

No Compound Related Data Available

Transcripts for ADAMTS9 Gene

Unigene Clusters for ADAMTS9 Gene

ADAM metallopeptidase with thrombospondin type 1 motif, 9:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADAMTS9 Gene

No ASD Table

Relevant External Links for ADAMTS9 Gene

GeneLoc Exon Structure for
ADAMTS9
ECgene alternative splicing isoforms for
ADAMTS9

Expression for ADAMTS9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADAMTS9 Gene

Protein differential expression in normal tissues from HIPED for ADAMTS9 Gene

This gene is overexpressed in Pancreas (36.5) and Heart (32.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ADAMTS9 Gene



Protein tissue co-expression partners for ADAMTS9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADAMTS9 Gene:

ADAMTS9

SOURCE GeneReport for Unigene cluster for ADAMTS9 Gene:

Hs.656071

mRNA Expression by UniProt/SwissProt for ADAMTS9 Gene:

Q9P2N4-ATS9_HUMAN
Tissue specificity: Highly expressed in all fetal tissues. Expressed in a number of adult tissues with highest expression in heart, placenta and skeletal muscle.

Evidence on tissue expression from TISSUES for ADAMTS9 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with ADAMTS9: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADAMTS9 Gene

Orthologs for ADAMTS9 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADAMTS9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADAMTS9 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia ADAMTS9 34 35
  • 90.67 (n)
cow
(Bos Taurus)
Mammalia ADAMTS9 34 35
  • 90.23 (n)
mouse
(Mus musculus)
Mammalia Adamts9 34 16 35
  • 86.41 (n)
rat
(Rattus norvegicus)
Mammalia Adamts9 34
  • 86.27 (n)
oppossum
(Monodelphis domestica)
Mammalia ADAMTS9 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADAMTS9 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADAMTS9 34 35
  • 73.7 (n)
lizard
(Anolis carolinensis)
Reptilia ADAMTS9 35
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii adamts9 34 35
  • 66.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6107 36
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea gon-1 34
  • 49.88 (n)
Species where no ortholog for ADAMTS9 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)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ADAMTS9 Gene

ENSEMBL:
Gene Tree for ADAMTS9 (if available)
TreeFam:
Gene Tree for ADAMTS9 (if available)

Paralogs for ADAMTS9 Gene

genes like me logo Genes that share paralogs with ADAMTS9: view

Variants for ADAMTS9 Gene

Sequence variations from dbSNP and Humsavar for ADAMTS9 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000002276 -- 64,681,927(+) TTAGA(G/T)AGCCT intron-variant
rs1000028209 -- 64,640,368(+) GCTTT(A/G)CCAAT intron-variant
rs1000048023 -- 64,605,999(+) ATTGC(C/T)AAATG intron-variant
rs1000050823 -- 64,568,031(+) TCAGT(A/G)CAGTC intron-variant
rs1000052612 -- 64,670,785(+) TTAGA(C/T)TTTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADAMTS9 Gene

Variant ID Type Subtype PubMed ID
dgv2709e59 CNV duplication 20981092
dgv2710e59 CNV tandem duplication 20981092
dgv289n21 CNV gain 19592680
dgv809n67 CNV gain 20364138
esv28694 CNV gain 19812545
esv3326518 CNV insertion 20981092
esv3596407 CNV gain 21293372
esv3596408 CNV gain 21293372
nsv1014598 CNV gain 25217958
nsv834718 CNV gain 17160897

Variation tolerance for ADAMTS9 Gene

Residual Variation Intolerance Score: 2.52% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.51; 82.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADAMTS9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADAMTS9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADAMTS9 Gene

Disorders for ADAMTS9 Gene

Relevant External Links for ADAMTS9

Genetic Association Database (GAD)
ADAMTS9
Human Genome Epidemiology (HuGE) Navigator
ADAMTS9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADAMTS9

No disorders were found for ADAMTS9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ADAMTS9 Gene

Publications for ADAMTS9 Gene

  1. Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1. (PMID: 12514189) Somerville R.P. … Apte S.S. (J. Biol. Chem. 2003) 3 4 22 64
  2. ADAMTS 9, a novel member of the ADAM-TS/Metallospondin gene family. (PMID: 10936055) Clark M.E. … Maki R.A. (Genomics 2000) 2 3 4 64
  3. Identification of a novel ADAMTS9/GON-1 function for protein transport from the ER to the Golgi. (PMID: 22419820) Yoshina S. … Mitani S. (Mol. Biol. Cell 2012) 3 4 64
  4. Genome-wide association analysis of age-at-onset in Alzheimer's disease. (PMID: 22005931) Kamboh M.I. … Lopez O.L. (Mol. Psychiatry 2012) 3 46 64
  5. Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI. (PMID: 19933996) Zhao J. … Grant S.F. (Diabetes 2010) 3 46 64

Products for ADAMTS9 Gene

Sources for ADAMTS9 Gene

Content
Loading form....