Protein: Q96AP0

UniprotKB AC UniprotKB ID Gene name Full name Species Curated set
Q96AP0 (Uniprot) ACD_HUMAN ACD Adrenocortical dysplasia protein homolog human No
Uniprot: 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. more..
MoonDB Dissimilar Functions
GO ID 1 Function 1 Module ID 1 GO ID 2 Function 2 Module ID 2 Association Probability (PrOnto) Interaction Probability (PrOnto)
GO:0009056 catabolic process 125 GO:0009059 macromolecule biosynthetic process 211, 273, 391, 551 6.37e-04 1.88e-40
Biological Processes
Module ID (MoonGO) GO ID (BP) GO Name
40 GO:0051276 chromosome organization
40 GO:0090304 nucleic acid metabolic process
40 GO:0060255 regulation of macromolecule metabolic process
107 GO:0016070 RNA metabolic process
107 GO:0044267 cellular protein metabolic process
107 GO:0034654 nucleobase-containing compound biosynthetic process
107 GO:2000112 regulation of cellular macromolecule biosynthetic process
107 GO:0010468 regulation of gene expression
107 GO:0019219 regulation of nucleobase-containing compound metabolic process
107 GO:0007165 signal transduction
125 GO:0044248 cellular catabolic process
125 GO:0016567 protein ubiquitination
125 GO:0060255 regulation of macromolecule metabolic process
161 GO:0090304 nucleic acid metabolic process
211 GO:0034645 cellular macromolecule biosynthetic process
211 GO:0044271 cellular nitrogen compound biosynthetic process
211 GO:0090304 nucleic acid metabolic process
211 GO:0060255 regulation of macromolecule metabolic process
237 GO:0022607 cellular component assembly
237 GO:0034645 cellular macromolecule biosynthetic process
237 GO:0044271 cellular nitrogen compound biosynthetic process
237 GO:0006464 cellular protein modification process
237 GO:0051649 establishment of localization in cell
237 GO:0010467 gene expression
237 GO:0031324 negative regulation of cellular metabolic process
237 GO:0010605 negative regulation of macromolecule metabolic process
237 GO:0051172 negative regulation of nitrogen compound metabolic process
237 GO:0090304 nucleic acid metabolic process
237 GO:0033365 protein localization to organelle
237 GO:0015031 protein transport
237 GO:0050790 regulation of catalytic activity
237 GO:0051128 regulation of cellular component organization
239 GO:0006139 nucleobase-containing compound metabolic process
273 GO:0034645 cellular macromolecule biosynthetic process
273 GO:0044271 cellular nitrogen compound biosynthetic process
273 GO:0006464 cellular protein modification process
273 GO:0051252 regulation of RNA metabolic process
273 GO:0010468 regulation of gene expression
316 GO:0044267 cellular protein metabolic process
316 GO:0060255 regulation of macromolecule metabolic process
319 GO:0060255 regulation of macromolecule metabolic process
391 GO:0034645 cellular macromolecule biosynthetic process
391 GO:0090304 nucleic acid metabolic process
391 GO:0034654 nucleobase-containing compound biosynthetic process
391 GO:0060255 regulation of macromolecule metabolic process
391 GO:0019219 regulation of nucleobase-containing compound metabolic process
393 GO:0044267 cellular protein metabolic process
405 GO:0090304 nucleic acid metabolic process
405 GO:0060255 regulation of macromolecule metabolic process
405 GO:0019219 regulation of nucleobase-containing compound metabolic process
540 GO:0022607 cellular component assembly
551 GO:0034645 cellular macromolecule biosynthetic process
551 GO:0090304 nucleic acid metabolic process
551 GO:0034654 nucleobase-containing compound biosynthetic process
551 GO:0010604 positive regulation of macromolecule metabolic process
551 GO:0051173 positive regulation of nitrogen compound metabolic process
614 GO:0006139 nucleobase-containing compound metabolic process
706 GO:0044267 cellular protein metabolic process
706 GO:0090304 nucleic acid metabolic process
706 GO:0034654 nucleobase-containing compound biosynthetic process
706 GO:2000112 regulation of cellular macromolecule biosynthetic process
706 GO:0010468 regulation of gene expression
706 GO:0019219 regulation of nucleobase-containing compound metabolic process
706 GO:0007165 signal transduction
756 GO:0007165 signal transduction
761 GO:0031324 negative regulation of cellular metabolic process
761 GO:0010605 negative regulation of macromolecule metabolic process
761 GO:0051172 negative regulation of nitrogen compound metabolic process
761 GO:0090304 nucleic acid metabolic process
761 GO:0034654 nucleobase-containing compound biosynthetic process
761 GO:2000112 regulation of cellular macromolecule biosynthetic process
761 GO:0019219 regulation of nucleobase-containing compound metabolic process
860 GO:0090304 nucleic acid metabolic process
860 GO:0034654 nucleobase-containing compound biosynthetic process
860 GO:2000112 regulation of cellular macromolecule biosynthetic process
860 GO:0019219 regulation of nucleobase-containing compound metabolic process
Cellular Components
Module ID (MoonGO) GO ID (CC) GO Name
11 GO:0005634 nucleus
34 GO:0005634 nucleus
40 GO:0043232 intracellular non-membrane-bounded organelle
40 GO:0005654 nucleoplasm
107 GO:0005829 cytosol
107 GO:0005654 nucleoplasm
125 GO:0005829 cytosol
125 GO:0005634 nucleus
161 GO:0005634 nucleus
211 GO:0005829 cytosol
211 GO:0031981 nuclear lumen
237 GO:0005829 cytosol
237 GO:0012505 endomembrane system
237 GO:0005615 extracellular space
237 GO:0043232 intracellular non-membrane-bounded organelle
237 GO:0070013 intracellular organelle lumen
237 GO:0044428 nuclear part
237 GO:0031982 vesicle
239 GO:0043232 intracellular non-membrane-bounded organelle
239 GO:0031981 nuclear lumen
271 GO:0005634 nucleus
273 GO:0043232 intracellular non-membrane-bounded organelle
273 GO:0005654 nucleoplasm
291 GO:0043232 intracellular non-membrane-bounded organelle
291 GO:0005634 nucleus
316 GO:0005634 nucleus
317 GO:0005829 cytosol
319 GO:0005829 cytosol
319 GO:0005634 nucleus
391 GO:0070013 intracellular organelle lumen
391 GO:0005634 nucleus
393 GO:0043232 intracellular non-membrane-bounded organelle
393 GO:0005634 nucleus
405 GO:0005829 cytosol
405 GO:0043232 intracellular non-membrane-bounded organelle
405 GO:0070013 intracellular organelle lumen
405 GO:0005634 nucleus
540 GO:0005829 cytosol
540 GO:0043232 intracellular non-membrane-bounded organelle
540 GO:0005634 nucleus
551 GO:0005829 cytosol
551 GO:0005615 extracellular space
551 GO:0043232 intracellular non-membrane-bounded organelle
551 GO:0005654 nucleoplasm
551 GO:0031982 vesicle
614 GO:0005829 cytosol
614 GO:0005634 nucleus
706 GO:0005829 cytosol
706 GO:0031981 nuclear lumen
756 GO:0005576 extracellular region
756 GO:0005886 plasma membrane
756 GO:0031982 vesicle
761 GO:0005654 nucleoplasm
860 GO:0043232 intracellular non-membrane-bounded organelle
860 GO:0005634 nucleus
GO ID (BP) GO Name Evidence Code (GO EC)
GO:0000723 telomere maintenance IDA
GO:0001501 skeletal system development IEA
GO:0001655 urogenital system development IEA
GO:0006886 intracellular protein transport IMP
GO:0016233 telomere capping TAS
GO:0030326 embryonic limb morphogenesis IEA
GO:0031848 protection from non-homologous end joining at telomere ISS
GO:0032202 telomere assembly IMP
GO:0032211 negative regulation of telomere maintenance via telomerase TAS
GO:0032212 positive regulation of telomere maintenance via telomerase IDA
GO:0035282 segmentation IEA
GO:0051973 positive regulation of telomerase activity IDA
GO:0060381 positive regulation of single-stranded telomeric DNA binding IDA
GO:0070198 protein localization to chromosome, telomeric region IMP
GO:0070200 establishment of protein localization to telomere IMP
GO ID (CC) GO Name Evidence Code (GO EC)
GO:0000783 nuclear telomere cap complex IDA
GO:0000784 nuclear chromosome, telomeric region IDA
GO:0005654 nucleoplasm TAS
GO:0016604 nuclear body IDA
GO:0070187 shelterin complex IDA
No pairs of PrOnto dissimilar CC GO terms found.
PMID Article Title
14702039 Complete sequencing and characterization of 21,243 full-length human cDNAs.
15181449 PTOP interacts with POT1 and regulates its localization to telomeres.
15231715 POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex.
15316005 TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres.
15383534 Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins.
15489334 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15537664 Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator.
15616553 The sequence and analysis of duplication-rich human chromosome 16.
16166375 Shelterin: the protein complex that shapes and safeguards human telomeres.
16880378 A critical role for TPP1 and TIN2 interaction in high-order telomeric complex assembly.
17237768 The POT1-TPP1 telomere complex is a telomerase processivity factor.
18220336 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18669648 A quantitative atlas of mitotic phosphorylation.
19413330 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19648609 OB fold-containing protein 1 (OBFC1), a human homolog of yeast Stn1, associates with TPP1 and is implicated in telomere length regulation.
19690332 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
20068231 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20231318 Functional interaction between telomere protein TPP1 and telomerase.
23186163 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
24275569 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
25205116 Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
25233904 Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
28112733 Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.
OMIM ID Disease Name
616553 Dyskeratosis congenita, autosomal dominant, 6
616553 Dyskeratosis congenita, autosomal recessive, 7
Domain Name Domain ID Source
ACD IPR028631 InterPro
PTHR14487 PTHR14487 PANTHER