Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65057
Gene name	ACD shelterin complex subunit and telomerase recruitment factor
Gene symbol	ACD
Synonyms (NCBI Gene)	DKCA6DKCB7PIP1PTOPTINT1TPP1
Chromosome	16
Chromosome location	16q22.1
Summary	This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030394	hsa-miR-24-3p	Microarray	19748357
MIRT1924776	hsa-miR-3911	CLIP-seq
MIRT1924777	hsa-miR-574-5p	CLIP-seq
MIRT1924778	hsa-miR-759	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000723	Process	Telomere maintenance	IDA	15181449
GO:0000723	Process	Telomere maintenance	IEA
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000781	Component	Chromosome, telomeric region	IDA	15380063, 23685356, 24270157, 25172512
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000783	Component	Nuclear telomere cap complex	IDA	16880378
GO:0000783	Component	Nuclear telomere cap complex	IEA
GO:0001501	Process	Skeletal system development	IEA
GO:0001655	Process	Urogenital system development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	15181449, 15231715, 15380063, 15383534, 16189514, 16880378, 17237768, 17632522, 19648609, 21044950, 21829167, 22101936, 22763445, 25172512, 25416956, 25910212, 26496610, 28514442, 31515488, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005697	Component	Telomerase holoenzyme complex	IEA
GO:0006886	Process	Intracellular protein transport	IMP	15181449
GO:0007004	Process	Telomere maintenance via telomerase	IDA	17237768
GO:0007004	Process	Telomere maintenance via telomerase	IEA
GO:0007004	Process	Telomere maintenance via telomerase	TAS	25467444
GO:0010521	Function	Telomerase inhibitor activity	IDA	25172512
GO:0016233	Process	Telomere capping	IBA
GO:0016233	Process	Telomere capping	IDA	21852327, 25172512
GO:0016233	Process	Telomere capping	IEA
GO:0016233	Process	Telomere capping	IGI	17632522
GO:0016233	Process	Telomere capping	NAS	17237767
GO:0016233	Process	Telomere capping	TAS	17237768
GO:0016604	Component	Nuclear body	IDA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0031848	Process	Protection from non-homologous end joining at telomere	IEA
GO:0031848	Process	Protection from non-homologous end joining at telomere	ISS	18185984
GO:0032202	Process	Telomere assembly	IMP	16880378
GO:0032206	Process	Positive regulation of telomere maintenance	NAS	15383534
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IBA
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IDA	25172512
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IGI	15181449
GO:0032211	Process	Negative regulation of telomere maintenance via telomerase	IMP	15380063
GO:0035282	Process	Segmentation	IEA
GO:0042162	Function	Telomeric DNA binding	IBA
GO:0042162	Function	Telomeric DNA binding	IDA	23685356
GO:0042162	Function	Telomeric DNA binding	IEA
GO:0044877	Function	Protein-containing complex binding	IPI	25172512
GO:0070182	Function	DNA polymerase binding	IPI	17237767, 25172512
GO:0070182	Function	DNA polymerase binding	TAS	25467444
GO:0070187	Component	Shelterin complex	IBA
GO:0070187	Component	Shelterin complex	IDA	15383534, 23685356
GO:0070187	Component	Shelterin complex	IEA
GO:0070187	Component	Shelterin complex	IMP	21852327
GO:0070187	Component	Shelterin complex	IPI	15383534
GO:0070187	Component	Shelterin complex	TAS	17237768
GO:0070198	Process	Protein localization to chromosome, telomeric region	IBA
GO:0070198	Process	Protein localization to chromosome, telomeric region	IDA	15181449
GO:0070198	Process	Protein localization to chromosome, telomeric region	IMP	15181449
GO:0070200	Process	Establishment of protein localization to telomere	IMP	25589350
GO:0070200	Process	Establishment of protein localization to telomere	TAS	25467444
GO:0070203	Process	Regulation of establishment of protein localization to telomere	IDA	25172512

MIM	HGNC	e!Ensembl
609377	25070	ENSG00000102977

Q96AP0

Protein name

Adrenocortical dysplasia protein homolog (POT1 and TIN2-interacting protein)

Protein 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

PDB

2I46 , 5H65 , 5I2X , 5I2Y , 5UN7 , 5XYF , 7QXA , 7QXB , 7QXS , 7S1T , 7TRE , 8SOJ , 8SOK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10341	TPP1	11 → 120		Family

Sequence

MAGSGRLVLRPWIRELILGSETPSSPRAGQLLEVLQDAEAAVAGPSHAPDTSDVGATLLV
SDGTHSVRCLVTREALDTSDWEEKEFGFRGTEGRLLLLQDCGVHVQVAEGGAPAEFYLQV
DRFSLLPTEQPRLRVPGCNQDLDVQKKLYDCLEEHLSESTSSNAGLSLSQLLDEMREDQE
HQGALVCLAESCLTLEGPCTAPPVTHWAASRCKATGEAVYTVPSSMLCISENDQLILSSL
GPCQRTQGPELPPPDPALQDLSLTLIASPPSSPSSSGTPALPGHMSSEESGTSISLLPAL
SLAAPDPGQRSSSQPSPAICSAPATLTPRSPHASRTPSSPLQSCTPSLSPRSHVPSPHQA
LVTRPQKPSLEFKEFVGLPCKNRPPFPRTGATRGAQEPCSVWEPPKRHRDGSAFQYEYEP
PCTSLCARVQAVRLPPQLMAWALHFLMDAQPGSEPTPM

Sequence length

458

Interactions

View interactions

	Reactome
			Recognition and association of DNA glycosylase with site containing an affected purine Cleavage of the damaged purine Packaging Of Telomere Ends Telomere Extension By Telomerase DNA Damage/Telomere Stress Induced Senescence

653

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dyskeratosis congenita, autosomal dominant 6	Pathogenic; Likely pathogenic	rs797045144, rs759257949, rs1277350671, rs1303559181	RCV000190903 RCV004585160 RCV001523790 RCV001523791
Dyskeratosis congenita, autosomal recessive 7	Pathogenic	rs797045144	RCV000190904

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
ACD-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs778255016, rs755523137, rs528476326, rs200298308, rs2052907559, rs374417270, rs2543606711, rs745443998, rs928618096, rs895563147, rs2052926994, rs1050346, rs149365469, rs139438549, rs72549181 View all (4 more)	RCV003898355 RCV003930882 RCV003900568 RCV003911089 RCV003913530 RCV003896139 RCV004753555 RCV003971268 RCV003926609 RCV003420595 RCV003405769 RCV003942619 RCV003962366 RCV003953202 RCV003945674 RCV003912895 RCV003902972 RCV003413886 RCV003405289
ACD-related short telomere syndrome	Conflicting classifications of pathogenicity	rs755371076	RCV005361571
Hereditary cancer-predisposing syndrome	Benign; Likely benign	rs14920	RCV005426163
Long telomere syndrome	Uncertain significance	rs767285943, rs370512338	RCV004565696 RCV004564545
Sarcoma	Uncertain significance	rs571116752	RCV005901995
Uveal melanoma	Likely benign	rs376038080	RCV005931262

Show/Hide Text Mining Associations (26)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Achalasia Addisonianism Alacrimia syndrome	Associate	17466001
Adrenal Insufficiency	Associate	17466001
Anemia Aplastic	Associate	25205116
Bone Marrow Failure Disorders	Associate	25205116
Breast Neoplasms	Inhibit	25219965
Cardiovascular Diseases	Associate	20937264
Cataract Age Related Nuclear	Inhibit	21527554
Cerebral Infarction	Associate	20937264
Chronic Limb Threatening Ischemia	Associate	38092392
Colorectal Neoplasms	Associate	32586834
Congenital Bone Marrow Failure Syndromes	Associate	25205116
Crohn Disease	Associate	29374777
Diabetes Mellitus Type 2	Associate	21665207
Glucocorticoid Deficiency 2	Associate	17466001
Hoyeraal Hreidarsson syndrome	Associate	25233904, 26810774
Leukemia	Associate	26345285
Leukemia Lymphocytic Chronic B Cell	Associate	27528712
Melanoma	Associate	25505254, 33982545
Melanoma Cutaneous Malignant	Associate	36356143
Neoplasms	Associate	25219965, 25505254
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	26345285
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	21056083
Rectal Neoplasms	Associate	35409691
Renal Insufficiency Chronic	Associate	38092392
Smoke Inhalation Injury	Associate	32586834
Telomeric 22q13 Monosomy Syndrome	Associate	21527554, 33446513

ACD (ACD shelterin complex subunit and telomerase recruitment factor)