Protein: Q96AP0 | MoonDB v2.0

UniprotKB AC	UniprotKB ID	Gene name	Full name	Species	Curated set
Q96AP0 (Uniprot)	ACD_HUMAN	ACD	Adrenocortical dysplasia protein homolog	human	No

Protein Function

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 dama more..

MoonDB Dissimilar Functions

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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

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MoonDB Network Modules

Biological Processes

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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

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Cellular Components

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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

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Protein GO Annotations

Biological Processes

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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

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Cellular Components

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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

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Dissimilar Cellular Components (PrOnto)

No pairs of PrOnto dissimilar CC GO terms found.

All Protein Interactions

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Interactor	Also a MoonDB EMF protein
1433E_HUMAN	Yes: P62258 (MoonDB)
ABC3F_HUMAN	No
ACTB_HUMAN	No
ADPRH_HUMAN	No
AF1L2_HUMAN	No
AIPL1_HUMAN	No
ANKY2_HUMAN	No
ANXA8_HUMAN	No
BAG3_HUMAN	No
CHIP_HUMAN	Yes: Q9UNE7 (MoonDB)

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Publications Associated

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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.

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OMIM Diseases Associated

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OMIM ID	Disease Name
616553	Dyskeratosis congenita, autosomal dominant, 6
616553	Dyskeratosis congenita, autosomal recessive, 7

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Protein Domains Associated

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Domain Name	Domain ID	Source
ACD	IPR028631	InterPro
PTHR14487	PTHR14487	PANTHER

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