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

Gene ID: 56999, updated on 20-Apr-2020

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
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

Genomic context

See ADAMTS9 in Genome Data Viewer
Location:
3p14.1
Exon count:
41
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (64515654..64688000, complement)
105 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 PRICKLE2 divergent transcript Neighboring gene uncharacterized LOC105377123 Neighboring gene RNA, U6 small nuclear 739, pseudogene Neighboring gene ADAMTS9 antisense RNA 1 Neighboring gene ADAMTS9 antisense RNA 2 Neighboring gene uncharacterized LOC105377124 Neighboring gene uncharacterized LOC107986017

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ42955, KIAA1312

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
metallopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endothelial cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization ISS
Inferred from Sequence or Structural Similarity
more info
 
glycoprotein catabolic process TAS
Traceable Author Statement
more info
PubMed 
heart valve morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organism development TAS
Traceable Author Statement
more info
PubMed 
negative regulation of endothelial cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of melanocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
protein transport IEA
Inferred from Electronic Annotation
more info
 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
vesicle-mediated transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
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 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
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)

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
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_245151.1 RNA Sequence

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