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Guidelines

MIRAGE

ACD shelterin complex subunit and telomerase recruitment factor

Summary

Gene Symbol

ACD

Organism

Homo sapiens (human)

External Links

NCBI Gene

65057

KEGG Gene ID

PubChem

65057

Alliance of Genome Resources

HGNC:25070

Annotation

Keyword

3D-structure
Alternative splicing
DNA-binding
Disease variant
Dyskeratosis congenita
Isopeptide bond
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
Telomere
Ubl conjugation

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q96AP0	POT1 and TIN2-interacting protein
A0A8Q3WM11

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 30 in total

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GO Term	Evidence Code	PMID
telomere maintenance	IDA
telomere maintenance	IEA
skeletal system development
urogenital system development
intracellular protein transport	IMP

GO Hierarchy

biological process

cellular process [inference]

metabolic process [inference]

biosynthetic process [inference]

macromolecule biosynthetic process [inference]

nucleic acid biosynthetic process [inference]

DNA biosynthetic process [inference]

RNA-templated DNA biosynthetic process [inference]

telomere maintenance via telomerase

nucleobase-containing compound biosynthetic process [inference]

nucleic acid biosynthetic process [inference]

DNA biosynthetic process [inference]

RNA-templated DNA biosynthetic process [inference]

telomere maintenance via telomerase

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

nucleic acid biosynthetic process [inference]

DNA biosynthetic process [inference]

RNA-templated DNA biosynthetic process [inference]

telomere maintenance via telomerase

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomere maintenance via telomere lengthening [inference]

telomere maintenance via telomerase

telomere capping

telomere maintenance in response to DNA damage [inference]

protection from non-homologous end joining at telomere

DNA biosynthetic process [inference]

RNA-templated DNA biosynthetic process [inference]

telomere maintenance via telomerase

nucleic acid biosynthetic process [inference]

DNA biosynthetic process [inference]

RNA-templated DNA biosynthetic process [inference]

telomere maintenance via telomerase

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleic acid biosynthetic process [inference]

DNA biosynthetic process [inference]

RNA-templated DNA biosynthetic process [inference]

telomere maintenance via telomerase

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

telomere maintenance

telomere maintenance via telomere lengthening [inference]

telomere maintenance via telomerase

telomere capping

telomere maintenance in response to DNA damage [inference]

protection from non-homologous end joining at telomere

DNA biosynthetic process [inference]

RNA-templated DNA biosynthetic process [inference]

telomere maintenance via telomerase

nucleic acid biosynthetic process [inference]

DNA biosynthetic process [inference]

RNA-templated DNA biosynthetic process [inference]

telomere maintenance via telomerase

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

telomere maintenance in response to DNA damage [inference]

protection from non-homologous end joining at telomere

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

chromosome organization [inference]

telomere organization [inference]

telomere maintenance

telomere maintenance via telomere lengthening [inference]

telomere maintenance via telomerase

telomere capping

telomere maintenance in response to DNA damage [inference]

protection from non-homologous end joining at telomere

telomere assembly

cellular component assembly [inference]

telomere assembly

multicellular organismal process [inference]

pattern specification process [inference]

regionalization [inference]

segmentation

developmental process [inference]

anatomical structure morphogenesis [inference]

appendage morphogenesis [inference]

limb morphogenesis [inference]

embryonic limb morphogenesis

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis

embryonic morphogenesis [inference]

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis

anatomical structure development [inference]

system development [inference]

animal gross anatomical part developmental process [inference]

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

telomere maintenance in response to DNA damage [inference]

protection from non-homologous end joining at telomere

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

telomere maintenance in response to DNA damage [inference]

protection from non-homologous end joining at telomere

localization [inference]

macromolecule localization [inference]

intracellular protein localization [inference]

protein transport [inference]

intracellular protein transport

protein localization to organelle [inference]

protein localization to chromosome [inference]

protein localization to chromosome, telomeric region

establishment of localization [inference]

transport [inference]

protein transport [inference]

intracellular protein transport

intracellular transport [inference]

intracellular protein transport

establishment of protein localization [inference]

protein transport [inference]

intracellular protein transport

establishment of protein localization to organelle [inference]

establishment of protein localization to chromosome [inference]

establishment of protein localization to telomere

establishment of localization in cell [inference]

intracellular transport [inference]

intracellular protein transport

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport

biological regulation [inference]

regulation of biological process [inference]

regulation of localization [inference]

regulation of protein localization [inference]

regulation of establishment of protein localization [inference]

regulation of establishment of protein localization to chromosome [inference]

regulation of establishment of protein localization to telomere

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of telomere maintenance

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of chromosome organization [inference]

positive regulation of telomere maintenance

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of cellular component organization [inference]

negative regulation of organelle organization [inference]

negative regulation of chromosome organization [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

regulation of cellular process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

regulation of macromolecule biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

regulation of DNA biosynthetic process [inference]

regulation of telomere maintenance via telomerase [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of telomere maintenance

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

regulation of DNA biosynthetic process [inference]

regulation of telomere maintenance via telomerase [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of telomere maintenance

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

regulation of DNA metabolic process [inference]

regulation of telomere maintenance [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of telomere maintenance

regulation of telomere maintenance via telomere lengthening [inference]

regulation of telomere maintenance via telomerase [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of DNA metabolic process [inference]

positive regulation of telomere maintenance

regulation of DNA biosynthetic process [inference]

regulation of telomere maintenance via telomerase [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

regulation of DNA metabolic process [inference]

regulation of telomere maintenance [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of telomere maintenance

regulation of telomere maintenance via telomere lengthening [inference]

regulation of telomere maintenance via telomerase [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of DNA metabolic process [inference]

positive regulation of telomere maintenance

regulation of DNA biosynthetic process [inference]

regulation of telomere maintenance via telomerase [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of cellular process [inference]

positive regulation of metabolic process [inference]

positive regulation of macromolecule metabolic process [inference]

positive regulation of DNA metabolic process [inference]

positive regulation of telomere maintenance

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of chromosome organization [inference]

positive regulation of telomere maintenance

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of biosynthetic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule biosynthetic process [inference]

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of nucleobase-containing compound metabolic process [inference]

negative regulation of DNA metabolic process [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of DNA biosynthetic process [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of cellular component organization [inference]

negative regulation of organelle organization [inference]

negative regulation of chromosome organization [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

regulation of cellular component organization [inference]

regulation of organelle organization [inference]

positive regulation of organelle organization [inference]

positive regulation of chromosome organization [inference]

positive regulation of telomere maintenance

negative regulation of organelle organization [inference]

negative regulation of chromosome organization [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

regulation of chromosome organization [inference]

regulation of telomere maintenance [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of telomere maintenance

regulation of telomere maintenance via telomere lengthening [inference]

regulation of telomere maintenance via telomerase [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

negative regulation of chromosome organization [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of chromosome organization [inference]

positive regulation of telomere maintenance

negative regulation of cellular component organization [inference]

negative regulation of organelle organization [inference]

negative regulation of chromosome organization [inference]

negative regulation of telomere maintenance [inference]

negative regulation of telomere maintenance via telomere lengthening [inference]

negative regulation of telomere maintenance via telomerase

positive regulation of cellular component organization [inference]

positive regulation of organelle organization [inference]

positive regulation of chromosome organization [inference]

positive regulation of telomere maintenance

Displaying entries **1 - 5** of 16 in total

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GO Term	Evidence Code	PMID
chromosome, telomeric region	IDA
chromosome, telomeric region	IEA
chromosome, telomeric region	HDA
nuclear telomere cap complex	IDA
nuclear telomere cap complex	IEA

GO Hierarchy

cellular component

protein-containing complex [inference]

protein-DNA complex [inference]

telomere cap complex [inference]

nuclear telomere cap complex

shelterin complex

nuclear protein-containing complex [inference]

nuclear telomere cap complex

shelterin complex

telomerase holoenzyme complex

catalytic complex [inference]

telomerase holoenzyme complex

ribonucleoprotein complex [inference]

telomerase holoenzyme complex

cellular anatomical structure [inference]

nucleoplasm

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

membraneless organelle [inference]

intracellular membraneless organelle [inference]

nuclear body

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular membraneless organelle [inference]

nuclear body

chromosomal region [inference]

chromosome, telomeric region

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
protein binding	IPI
telomerase inhibitor activity	IDA
telomeric repeat DNA binding	IDA
telomeric repeat DNA binding	IBA
telomeric repeat DNA binding	IEA

GO Hierarchy

molecular function

binding [inference]

nucleic acid binding [inference]

DNA binding [inference]

sequence-specific DNA binding [inference]

telomeric repeat DNA binding

protein binding

enzyme binding [inference]

DNA polymerase binding

protein-containing complex binding

molecular function regulator activity [inference]

enzyme regulator activity [inference]

enzyme inhibitor activity [inference]

telomerase inhibitor activity

molecular function inhibitor activity [inference]

enzyme inhibitor activity [inference]

telomerase inhibitor activity

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0070023	autosomal dominant dyskeratosis congenita 6	Alliance of Genome Resources

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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026