Human Gene ADAMTS9 (ENST00000498707.5) from GENCODE V49
  Description: ADAM metallopeptidase with thrombospondin type 1 motif 9, transcript variant 1 (from RefSeq NM_182920.2)
Gencode Transcript: ENST00000498707.5
Gencode Gene: ENSG00000163638.13
Transcript (Including UTRs)
   Position: hg38 chr3:64,515,654-64,688,000 Size: 172,347 Total Exon Count: 40 Strand: -
Coding Region
   Position: hg38 chr3:64,522,171-64,687,657 Size: 165,487 Coding Exon Count: 39 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2025-09-17 13:57:07

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:64,515,654-64,688,000)mRNA (may differ from genome)Protein (1935 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGImyGene2OMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ATS9_HUMAN
DESCRIPTION: RecName: Full=A disintegrin and metalloproteinase with thrombospondin motifs 9; Short=ADAM-TS 9; Short=ADAM-TS9; Short=ADAMTS-9; EC=3.4.24.-; Flags: Precursor;
FUNCTION: Cleaves the large aggregating proteoglycans, aggrecan and versican.
CATALYTIC ACTIVITY: Cleaves aggrecan at the 1838-Glu-|-Ala-1839 site and versican at the 1428-Glu-|-Ala-1429 site.
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
TISSUE SPECIFICITY: Highly expressed in all fetal tissues. Expressed in a number of adult tissues with highest expression in heart, placenta and skeletal muscle.
DOMAIN: The spacer domain and the TSP type-1 domains are important for a tight interaction with the extracellular matrix (By similarity).
DOMAIN: The ancillary domains, including the TSRs domain, are required for specific extracellular localization and for its versicanase and aggrecanase activities.
DOMAIN: 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.
PTM: The precursor is cleaved by a furin endopeptidase (By similarity).
SIMILARITY: Contains 1 disintegrin domain.
SIMILARITY: Contains 1 GON domain.
SIMILARITY: Contains 1 peptidase M12B domain.
SIMILARITY: Contains 15 TSP type-1 domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: ADAMTS9
Diseases sorted by gene-association score: peters-plus syndrome (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.68 RPKM in Adipose - Visceral (Omentum)
Total median expression: 177.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -180.70343-0.527 Picture PostScript Text
3' UTR -377.101473-0.256 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010294 - ADAM_spacer1
IPR024079 - MetalloPept_cat_dom
IPR012314 - Pept_M12B_GON-ADAMTSs
IPR001590 - Peptidase_M12B
IPR013273 - Peptidase_M12B_ADAM-TS
IPR002870 - Peptidase_M12B_N
IPR000884 - Thrombospondin_1_rpt

Pfam Domains:
PF05986 - ADAM-TS Spacer 1
PF08685 - GON domain
PF01562 - Reprolysin family propeptide
PF01421 - Reprolysin (M12B) family zinc metalloprotease
PF00090 - Thrombospondin type 1 domain

ModBase Predicted Comparative 3D Structure on Q9P2N4
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein SequenceProtein Sequence Protein Sequence 
AlignmentAlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
GO:0004222 metalloendopeptidase activity
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0003179 heart valve morphogenesis
GO:0003229 ventricular cardiac muscle tissue development
GO:0006508 proteolysis
GO:0006516 glycoprotein catabolic process
GO:0007275 multicellular organism development
GO:0010596 negative regulation of endothelial cell migration
GO:0015031 protein transport
GO:0016192 vesicle-mediated transport
GO:0030198 extracellular matrix organization
GO:0035909 aorta morphogenesis
GO:0045636 positive regulation of melanocyte differentiation
GO:0048070 regulation of developmental pigmentation
GO:0090673 endothelial cell-matrix adhesion
GO:1903671 negative regulation of sprouting angiogenesis

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005783 endoplasmic reticulum
GO:0009986 cell surface
GO:0043231 intracellular membrane-bounded organelle
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  BC130578 - Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9, mRNA (cDNA clone MGC:163450 IMAGE:40146609), complete cds.
BC171764 - Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9, mRNA (cDNA clone MGC:198478 IMAGE:9054417), complete cds.
AF488803 - Homo sapiens a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 9B (ADAMTS9) mRNA, complete cds.
AB037733 - Homo sapiens mRNA for KIAA1312 protein, partial cds.
AF261918 - Homo sapiens disintegrin metalloproteinase with thrombospondin repeats (ADAMTS9) mRNA, complete cds.
BC026271 - Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9, mRNA (cDNA clone IMAGE:4249695).
AK124945 - Homo sapiens cDNA FLJ42955 fis, clone BRSTN2008930.
AK300357 - Homo sapiens cDNA FLJ57005 complete cds, highly similar to ADAMTS-9 precursor (EC 3.4.24.-) (A disintegrinand metalloproteinase with thrombospondin motifs 9).
AK303343 - Homo sapiens cDNA FLJ54662 complete cds, highly similar to ADAMTS-9 precursor (EC 3.4.24.-) (A disintegrinand metalloproteinase with thrombospondin motifs 9).
LF207301 - JP 2014500723-A/14804: Polycomb-Associated Non-Coding RNAs.
MA442878 - JP 2018138019-A/14804: Polycomb-Associated Non-Coding RNAs.
LF364354 - JP 2014500723-A/171857: Polycomb-Associated Non-Coding RNAs.
MA599931 - JP 2018138019-A/171857: Polycomb-Associated Non-Coding RNAs.
LF364356 - JP 2014500723-A/171859: Polycomb-Associated Non-Coding RNAs.
MA599933 - JP 2018138019-A/171859: Polycomb-Associated Non-Coding RNAs.
BC036770 - Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9, mRNA (cDNA clone IMAGE:5760026), with apparent retained intron.
AK310571 - Homo sapiens cDNA, FLJ17613.
LF207304 - JP 2014500723-A/14807: Polycomb-Associated Non-Coding RNAs.
MA442881 - JP 2018138019-A/14807: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9P2N4 (Reactome details) participates in the following event(s):

R-HSA-5173005 B3GALTL transfers glucose to O-fucosyl-proteins
R-HSA-5173192 POFUT2 transfers fucose to TSR domain-containing proteins
R-HSA-1592310 Aggrecan degradation by ADAMTSs
R-NUL-2533988 Aggrecan degradation by ADAMTS4,ADAMTS5
R-HSA-5173214 O-glycosylation of TSR domain-containing proteins
R-HSA-5083635 Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-5173105 O-linked glycosylation
R-HSA-3906995 Diseases associated with O-glycosylation of proteins
R-HSA-1474244 Extracellular matrix organization
R-HSA-597592 Post-translational protein modification
R-HSA-3781865 Diseases of glycosylation
R-HSA-392499 Metabolism of proteins
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A1L4L0, ATS9_HUMAN, B7ZVX9, B9ZVN0, ENST00000498707.1, ENST00000498707.2, ENST00000498707.3, ENST00000498707.4, KIAA1312, NM_182920, Q9NR29, Q9P2N4, uc003dmg.1, uc003dmg.2, uc003dmg.3, uc003dmg.4
UCSC ID: ENST00000498707.5
RefSeq Accession: NM_182920.2
Protein: Q9P2N4 (aka ATS9_HUMAN)
CCDS: CCDS2903.1, CCDS82801.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.