ACD - ACD shelterin complex subunit and telomerase recruitment factor Gene

Also Known as PIP1; PTOP; TPP1; TINT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 65057

About ACD

Cytogenetic location: 16q22.1 Genomic coordinates (GRCh38): 16:67,657,512-67,660,260 (from NCBI)

This gene has 44 transcripts (splice variants), 142 orthologues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 8.8), testis (RPKM 8.5) and 25 other tissues.

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 Other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of Telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I. [provided by RefSeq, Jul 2008]

ACD Products (3)

mRNA	Protein	Name
NM_001082486.2	NP_001075955.2	adrenocortical dysplasia protein homolog isoform 1
NM_001410884.1	NP_001397813.1	adrenocortical dysplasia protein homolog isoform 3
NM_022914.3	NP_075065.3	adrenocortical dysplasia protein homolog isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA polymerase binding	IPI IPI: Inferred from physical interaction	17237767	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	15181449	GOA
enables protein-containing complex binding	IPI IPI: Inferred from physical interaction	25172512	GOA
enables telomerase inhibitor activity	IDA IDA: Inferred from direct assay	25172512	GOA
enables telomeric DNA binding	IDA IDA: Inferred from direct assay	23685356	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in establishment of protein localization to telomere	IMP IMP: Inferred from mutant phenotype	25589350	GOA
involved in intracellular protein transport	IMP IMP: Inferred from mutant phenotype	15181449	GOA
involved in negative regulation of telomere maintenance via telomerase	IDA IDA: Inferred from direct assay	25172512	GOA
involved in negative regulation of telomere maintenance via telomerase	IGI IGI: Inferred from genetic interaction	15181449	GOA
involved in negative regulation of telomere maintenance via telomerase	IMP IMP: Inferred from mutant phenotype	15380063	GOA
involved in positive regulation of single-stranded telomeric DNA binding	IDA IDA: Inferred from direct assay	17237767	GOA
involved in protein localization to chromosome, telomeric region	IDA IDA: Inferred from direct assay	15181449	GOA
involved in protein localization to chromosome, telomeric region	IMP IMP: Inferred from mutant phenotype	15181449	GOA
involved in regulation of establishment of protein localization to telomere	IDA IDA: Inferred from direct assay	25172512	GOA
involved in telomere assembly	IMP IMP: Inferred from mutant phenotype	16880378	GOA
involved in telomere capping	IDA IDA: Inferred from direct assay	21852327	GOA
involved in telomere capping	IGI IGI: Inferred from genetic interaction	17632522	GOA
acts upstream of or within telomere maintenance	IDA IDA: Inferred from direct assay	15181449	GOA
involved in telomere maintenance via telomerase	IDA IDA: Inferred from direct assay	17237768	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	15380063	GOA
part of nuclear telomere cap complex	IDA IDA: Inferred from direct assay	16880378	GOA
part of shelterin complex	IDA IDA: Inferred from direct assay	15383534	GOA
part of shelterin complex	IMP IMP: Inferred from mutant phenotype	21852327	GOA
part of shelterin complex	IPI IPI: Inferred from physical interaction	15383534	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ACD Protein Structure

TPP1

0
100
200
300
400
500
544 a.a.

Protein Preferred Names	Protein Names
adrenocortical dysplasia protein homolog	POT1 and TIN2-interacting protein

ACD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ACD	Q96AP0	STIP1	Homo sapiens	P31948	BiFC	21044950
Intra	ACD	Q96AP0	DPYSL3	Homo sapiens	Q14195	BiFC	21044950
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5-1	GMS	16880378
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5-1	Anti Tag CoIP	16880378
Cross	ACD	Q96AP0	Rnf8	Mus musculus	Q8VC56	Anti Tag CoIP	22101936
Intra	ACD	Q96AP0	RGS3	Homo sapiens	P49796	BiFC	21044950
Intra	ACD	Q96AP0	TBCD	Homo sapiens	Q9BTW9	BiFC	21044950
Intra	ACD	Q96AP0	YWHAE	Homo sapiens	P62258	BiFC	21044950
Intra	ACD	Q96AP0	EIF3G	Homo sapiens	O75821	BiFC	21044950
Cross	ACD	Q96AP0	Pot1	Mus musculus	Q91WC1	Anti Tag CoIP	22101936
Intra	ACD	Q96AP0	TUBB2A	Homo sapiens	Q13885	BiFC	21044950
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	Anti Tag CoIP	33961781
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	BiFC	21044950
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	Y2H Prey Pooling	25416956
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	GMS	16880378
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	Anti Tag CoIP	16880378
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4	Pull Down	21044950
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	Y2H	15231715
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	Anti Tag CoIP	15383534
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	IF	15231715
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	Anti Tag CoIP	15231715
Intra	ACD	Q96AP0	TINF2	Homo sapiens	Q9BSI4-3	GMS	15383534
Intra	ACD	Q96AP0	STN1	Homo sapiens	Q9H668	BiFC	19648609
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	GMS	15383534
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	Anti Tag CoIP	15383534
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	Anti Tag CoIP	33961781
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	BiFC	21044950
Intra	ACD	Q96AP0	POT1	Homo sapiens	Q9NUX5	Anti Tag CoIP	28514442
Intra	ACD	Q96AP0	PDLIM2	Homo sapiens	Q96JY6	BiFC	21044950

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Dyskeratosis Congenita, Autosomal Dominant 6	DKCA6 Dyskeratosis Congenita, Autosomal Recessive 7 Autosomal Dominant Dyskeratosis Congenita 6 Hereditary Isolated Aplastic Anemia Dyskeratosis Congenita, Autosomal Dominant, 6 Dyskeratosis Congenita, Autosomal Recessive, 7 DKCB7
Hoyeraal Hreidarsson Syndrome	Hoyeraal-Hreidarsson Syndrome Progressive Pancytopenia-Immunodeficiency-Cerebellar Hypoplasia Syndrome Cerebellar Hypoplasia With Pancytopenia Growth Retardation Prenatal With Progressive Pancytopenia And Cerebellar Hypoplasia
Dyskeratosis Congenita Autosomal Recessive	Autosomal Recessive Dyskeratosis Congenita Dkcb Dyskeratosis Congenita, Autosomal Recessive
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Pulmonary Fibrosis	Fibrosis Of Lung
Dyskeratosis Congenita, Autosomal Dominant 3	DKCA3 Autosomal Dominant Dyskeratosis Congenita 3 Dyskeratosis Congenita, Autosomal Dominant, 3 Dyskeratosis Congenita, Autosomal Dominant, Type 3
Revesz Syndrome	Exudative Retinopathy With Bone Marrow Failure DKCA5 Dyskeratosis Congenita, Autosomal Dominant 5 Dyskeratosis Congenita With Bilateral Exudative Retinopathy Retinopathy-Anemia-Central Nervous System Anomalies Syndrome Revesz-Debuse Syndrome Dyskeratosis Congenita, Autosomal Dominant, 5 Revesz Debuse Syndrome
Sacral Defect With Anterior Meningocele	Caudal Regression Syndrome Caudal Regression Sequence Sacral Agenesis Caudal Dysgenesis Syndrome SDAM Caudal Dysplasia Sequence Caudal Dysplasia Sacral Agenesis Syndrome Sacral Regression Syndrome Sacral Defect And Anterior Sacral Meningocele Rudd Klimek Syndrome Sirenomelia
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Dyskeratosis Congenita, Autosomal Recessive 1	DKCB1 Autosomal Recessive Dyskeratosis Congenita 1 Dyskeratosis Congenita, Autosomal Recessive, 1 Dyskeratosis Congenita, Autosomal Recessive, Type 1
Coats Disease	Exudative Retinopathy Retinal Telangiectasis Coats' Disease Leber Miliary Aneurysm Coats' Syndrome Congenital Retinal Telangiectasia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Approval
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0579	Cyclosporin A	Inhibitor	99.94%	Yes

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-10063	Ispronicline	Agonist	98.24%	Phase 2

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P990676	VIB-9600	Inhibitor	99.41%	Phase 1

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0579S	Cyclosporin A-d4	Inhibitor	99.59%	Unkown
HY-B0579S2	Cyclosporin A acetate-d4	Inhibitor	99.90%	Unkown
HY-B0579S3	Cyclosporin A-13C2,d4	Inhibitor	95.21%	Unkown
HY-W101384	Ac-D-2-Nal-OH		99.93%	Unkown
HY-B0579S5	Cyclosporin A-d12	Inhibitor	/	Unkown
HY-114680	ACD-10284		/	Unkown
HY-124133	JNJ-42905343	Inhibitor	/	Unkown
HY-RS00148	ACD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W044285	Fmoc-D-4-Aph(cBm)-OH		/	Unkown
HY-B0579S1	Cyclosporin A-d3	Inhibitor	/	Unkown
HY-RS17284	Acd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23739	Acd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990258	Anti-Mouse CLEC9A/CD370 Antibody (7H11)	Inhibitor	95%	Unkown
HY-P991570	Zaptuzumab		99.0%	Unkown
HY-P991881	KY1070		/	Unkown
HY-P991819	Anti-Mouse ICAM-1 Antibody (BE29G1)	Inhibitor	/	Unkown
HY-P992333	CLT030 Antibody	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ACD	VGNC	VGNC:69533
Rattus norvegicus	ACD	RGD	RGD:1565053
Mus musculus	ACD	MGD	MGI:87873
Felis catus	ACD	VGNC	VGNC:59505
Bos taurus	ACD	VGNC	VGNC:25534
Canis familiaris	ACD	VGNC	VGNC:37502
Others	ACD	NCBI