Protein: Adrenocortical dysplasia protein homolog (POT1 and TIN2-interacting protein) (Q96AP0)
Organism: Homo sapiens (Human)
Function: Component 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 recruiting telomerase to telomeres and increasing its processivity. May play a role in organogenesis.
Subcellular location: Nucleus {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:25205116, ECO:0000269|PubMed:25233904}. Chromosome, telomere {ECO:0000269|PubMed:15181449, ECO:0000269|PubMed:25205116, ECO:0000269|PubMed:25233904}.
Sequence: MAGSGRLVLRPWIRELILGSETPSSPRAGQLLEVLQDAEAAVAGPSHAPDTSDVGATLLVSDGTHSVRCLVTREALDTSDWEEKEFGFRGTEGRLLLLQDCGVHVQVAEGGAPAEFYLQVDRFSLLPTEQPRLRVPGCNQDLDVQKKLYDCLEEHLSESTSSNAGLSLSQLLDEMREDQEHQGALVCLAESCLTLEGPCTAPPVTHWAASRCKATGEAVYTVPSSMLCISENDQLILSSLGPCQRTQGPELPPPDPALQDLSLTLIASPPSSPSSSGTPALPGHMSSEESGTSISLLPALSLAAPDPGQRSSSQPSPAICSAPATLTPRSPHASRTPSSPLQSCTPSLSPRSHVPSPHQALVTRPQKPSLEFKEFVGLPCKNRPPFPRTGATRGAQEPCSVWEPPKRHRDGSAFQYEYEPPCTSLCARVQAVRLPPQLMAWALHFLMDAQPGSEPTPM
InterPro domains: - IPR019437: Shelterin complex subunit TPP1/Est3 (domain) [9-156]
- IPR028631: Adrenocortical dysplasia protein (family) [1-456]
Interaction partners: - Telomeric repeat-binding factor 1
- Telomeric repeat-binding factor 2-interacting protein 1
- TERF1-interacting nuclear factor 2
- Telomeric repeat-binding factor 2
- Protection of telomeres protein 1
- Telomerase reverse transcriptase
- CST complex subunit STN1
- CST complex subunit CTC1
- CST complex subunit TEN1
- Histone H2B type 2-F
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0097159 (organic cyclic compound binding), GO:1901363 (heterocyclic compound binding), GO:0005515 (protein binding), GO:0003676 (nucleic acid binding), GO:0003677 (DNA binding), GO:0043565 (sequence-specific DNA binding), GO:0042162 (telomeric DNA binding)
Biological Process (BP): GO:0008150 (biological process), GO:0008152 (metabolic process), GO:0065007 (biological regulation), GO:0050896 (response to stimulus), GO:0050789 (regulation of biological process), GO:0009987 (cellular process), GO:0048519 (negative regulation of biological process), GO:0044237 (cellular metabolic process), GO:0019222 (regulation of metabolic process), GO:0006807 (nitrogen compound metabolic process), GO:0050794 (regulation of cellular process), GO:0051716 (cellular response to stimulus), GO:0071840 (cellular component organization or biogenesis), GO:0006950 (response to stress), GO:0071704 (organic substance metabolic process), GO:0048523 (negative regulation of cellular process), GO:0044238 (primary metabolic process), GO:0009892 (negative regulation of metabolic process), GO:0051172 (negative regulation of nitrogen compound metabolic process), GO:1901360 (organic cyclic compound metabolic process), GO:0006139 (nucleobase-containing compound metabolic process), GO:0046483 (heterocycle metabolic process), GO:0033554 (cellular response to stress), GO:0010605 (negative regulation of macromolecule metabolic process), GO:0009889 (regulation of biosynthetic process), GO:0051171 (regulation of nitrogen compound metabolic process), GO:0060255 (regulation of macromolecule metabolic process), GO:0031323 (regulation of cellular metabolic process), GO:0016043 (cellular component organization), GO:0006725 (cellular aromatic compound metabolic process), GO:0034641 (cellular nitrogen compound metabolic process), GO:0080090 (regulation of primary metabolic process), GO:0031324 (negative regulation of cellular metabolic process), GO:0044260 (cellular macromolecule metabolic process), GO:0043170 (macromolecule metabolic process), GO:0010556 (regulation of macromolecule biosynthetic process), GO:0090304 (nucleic acid metabolic process), GO:0006974 (cellular response to DNA damage stimulus), GO:0031326 (regulation of cellular biosynthetic process), GO:0006259 (DNA metabolic process), GO:0019219 (regulation of nucleobase-containing compound metabolic process), GO:0051252 (regulation of RNA metabolic process), GO:0006996 (organelle organization), GO:0051253 (negative regulation of RNA metabolic process), GO:0045934 (negative regulation of nucleobase-containing compound metabolic process), GO:0010468 (regulation of gene expression), GO:0000723 (telomere maintenance), GO:2001141 (regulation of RNA biosynthetic process), GO:0000723 (telomere maintenance), GO:0006355 (regulation of DNA-templated transcription), GO:0006281 (DNA repair), GO:0051276 (chromosome organization), GO:0032200 (telomere organization), GO:0016233 (telomere capping), GO:1903506 (regulation of nucleic acid-templated transcription), GO:0006302 (double-strand break repair), GO:0006303 (double-strand break repair via nonhomologous end joining)
Cellular Component (CC): GO:0005575 (cellular component), GO:0110165 (cellular anatomical entity), GO:0005654 (nucleoplasm), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:0031974 (membrane-enclosed lumen), GO:0016604 (nuclear body), GO:0043229 (intracellular organelle), GO:0043233 (organelle lumen), GO:0043227 (membrane-bounded organelle), GO:0070013 (intracellular organelle lumen), GO:0043231 (intracellular membrane-bounded organelle), GO:0031981 (nuclear lumen), GO:0005634 (nucleus)