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MGP005824

UniProt Annotations

Entry Information
Gene Nameadrenocortical dysplasia homolog (mouse)
Protein EntryACD_HUMAN
UniProt IDQ96AP0
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96AP0-1; Sequence=Displayed; Name=2; IsoId=Q96AP0-2; Sequence=VSP_019066;
FunctionComponent of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity. Plays a role in shelterin complex assembly. May play a role in organogenesis. {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:16166375, ECO:0000269|PubMed:16880378, ECO:0000269|PubMed:17237768, ECO:0000269|PubMed:20231318}.
InteractionQ9H668:OBFC1; NbExp=4; IntAct=EBI-717666, EBI-746930; Q9NUX5:POT1; NbExp=3; IntAct=EBI-717666, EBI-752420; Q9NUX5-2:POT1; NbExp=3; IntAct=EBI-717666, EBI-752435; Q9BSI4-3:TINF2; NbExp=5; IntAct=EBI-717666, EBI-717418; Q92900:UPF1; NbExp=3; IntAct=EBI-717666, EBI-373471;
Sequence CautionSequence=AAX82621.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Subcellular LocationNucleus {ECO:0000269|PubMed:15181449}. Chromosome, telomere {ECO:0000269|PubMed:15181449}.
SubunitComponent of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Forms heterodimers with POT1. Identified in a complex with POT1 and single-stranded telomeric DNA. Interacts with STN1/OBFC1 and TINF2. {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:15231715, ECO:0000269|PubMed:15316005, ECO:0000269|PubMed:15383534, ECO:0000269|PubMed:17237768, ECO:0000269|PubMed:19648609}.
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