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    ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 [ Homo sapiens (human) ]

    Gene ID: 56999, updated on 9-Dec-2024

    Summary

    Official Symbol
    ADAMTS9provided by HGNC
    Official Full Name
    ADAM metallopeptidase with thrombospondin type 1 motif 9provided by HGNC
    Primary source
    HGNC:HGNC:13202
    See related
    Ensembl:ENSG00000163638 MIM:605421; AllianceGenome:HGNC:13202
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Broad expression in placenta (RPKM 16.1), endometrium (RPKM 10.3) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ADAMTS9 in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (64515654..64688000, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (64559268..64731664, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (64501330..64673676, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377123 Neighboring gene PRICKLE2 divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64474389-64475332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64475333-64476276 Neighboring gene MPRA-validated peak4681 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:64493024-64494223 Neighboring gene RNA, U6 small nuclear 739, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:64526487-64527686 Neighboring gene ADAMTS9 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr3:64582623-64583210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:64627975-64628476 Neighboring gene NANOG hESC enhancer GRCh37_chr3:64663850-64664351 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:64670743-64671244 Neighboring gene ADAMTS9 antisense RNA 2 Neighboring gene uncharacterized LOC105377124 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:64930462-64931334 Neighboring gene MPRA-validated peak4685 silencer Neighboring gene uncharacterized LOC124909390

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study of liver enzymes in korean children.
    EBI GWAS Catalog
    Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    EBI GWAS Catalog
    Seven new loci associated with age-related macular degeneration.
    EBI GWAS Catalog
    Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
    EBI GWAS Catalog
    White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42955, KIAA1312

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metallopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in aorta morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in camera-type eye morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cornea development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endothelial cell-matrix adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in extracellular matrix organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart valve morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endothelial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of sprouting angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of melanocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to bacterium IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with collagen-containing extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    A disintegrin and metalloproteinase with thrombospondin motifs 9
    Names
    a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001318781.2NP_001305710.1  A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 4 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 4 which is shorter than isoform 1. This isoform (4) may undergo proteolytic processing similar to isoform 1.
      Source sequence(s)
      AC096888, AC122178, AF488803, BC026271, BC171764
      Consensus CDS
      CCDS82801.1
      UniProtKB/Swiss-Prot
      Q9P2N4
      Related
      ENSP00000295903.4, ENST00000295903.8
      Conserved Domains (6) summary
      smart00209
      Location:563614
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:293468
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01421
      Location:293471
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:73206
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:725843
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08685
      Location:17101906
      GON; GON domain
    2. NM_182920.2NP_891550.1  A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_891550.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB037733, AC122178, AF488803, BC026271, BC036770, BX482310, CD103111
      Consensus CDS
      CCDS2903.1
      UniProtKB/Swiss-Prot
      A1L4L0, B7ZVX9, B9ZVN0, Q9NR29, Q9P2N4
      Related
      ENSP00000418735.1, ENST00000498707.5
      Conserved Domains (6) summary
      smart00209
      Location:591642
      TSP1; Thrombospondin type 1 repeats
      cd04273
      Location:293496
      ZnMc_ADAMTS_like; Zinc-dependent metalloprotease, ADAMTS_like subgroup. ADAMs (A Disintegrin And Metalloprotease) are glycoproteins, which play roles in cell signaling, cell fusion, and cell-cell interactions. This particular subfamily represents domain architectures that ...
      pfam01421
      Location:293499
      Reprolysin; Reprolysin (M12B) family zinc metalloprotease
      pfam01562
      Location:73206
      Pep_M12B_propep; Reprolysin family propeptide
      pfam05986
      Location:753871
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08685
      Location:17381934
      GON; GON domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      64515654..64688000 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007095711.1 RNA Sequence

    2. XR_245151.1 RNA Sequence

    3. XR_007095712.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      64559268..64731664 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008486756.1 RNA Sequence

    2. XR_008486755.1 RNA Sequence

    3. XR_008486757.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020249.2: Suppressed sequence

      Description
      NM_020249.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    2. NM_182921.1: Suppressed sequence

      Description
      NM_182921.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.