MGP Database

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MGP003676

UniProt Annotations

Entry Information
Gene NameADAM metallopeptidase domain 9
Protein EntryADAM9_HUMAN
UniProt IDQ13443
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13443-1; Sequence=Displayed; Name=2; IsoId=Q13443-2; Sequence=VSP_011057, VSP_011058; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.;
CautionHas sometimes been referred to as ADAM-12. {ECO:0000305}.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000305}; Note=Binds 1 zinc ion per subunit. {ECO:0000305};
DiseaseCone-rod dystrophy 9 (CORD9) [MIM:612775]: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. {ECO:0000269|PubMed:19409519}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionProbable zinc protease. May mediate cell-cell or cell- matrix interactions. Isoform 2 displays alpha-secretase activity for APP. {ECO:0000269|PubMed:12054541}.
InteractionQ9UI95:MAD2L2; NbExp=3; IntAct=EBI-77903, EBI-77889; Q9UKS6:PACSIN3; NbExp=2; IntAct=EBI-77903, EBI-77926; Q99962:SH3GL2; NbExp=2; IntAct=EBI-77903, EBI-77938;
SimilarityContains 1 disintegrin domain. {ECO:0000255|PROSITE- ProRule:PRU00068}.
SimilarityContains 1 EGF-like domain. {ECO:0000255|PROSITE- ProRule:PRU00076}.
SimilarityContains 1 peptidase M12B domain. {ECO:0000255|PROSITE-ProRule:PRU00276}.
Subcellular LocationIsoform 1: Cell membrane; Single-pass type I membrane protein.
Subcellular LocationIsoform 2: Secreted.
SubunitInteracts with SH3GL2 and SNX9 through its cytoplasmic tail. {ECO:0000269|PubMed:10531379}.
Tissue SpecificityWidely expressed. Expressed in chondrocytes. Isoform 2 is highly expressed in liver and heart. {ECO:0000269|PubMed:12054541, ECO:0000269|PubMed:7584026, ECO:0000269|PubMed:8647900, ECO:0000269|PubMed:9016778}.
Web ResourceName=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ADAM9ID573ch8p11.html";
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