ACD - ACD shelterin complex subunit and telomerase recruitment factor Gene

Homo sapiens

Also known as PIP1; PTOP; TPP1; TINT1

Gene ID: 65057 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0579	Cyclosporin A	Inhibitor	99.90%	Yes

Clinical Phase

Bioactive Molecules (1)

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

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-B0579S	Cyclosporin A-d4		99.20%	Unkown
HY-B0579S2	Cyclosporin A acetate-d4	Inhibitor	99.90%	Unkown
HY-B0579S3	Cyclosporin A-13C2,d4	Inhibitor	/	Unkown
HY-RS00148	ACD Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W044285	Fmoc-D-4-Aph(cBm)-OH		/	Unkown
HY-W101384	Ac-D-2-Nal-OH		/	Unkown
HY-114680	ACD-10284		/	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
Macaca fascicularis	ACD	NCBI	NCBI:102147132
Others	ACD	NCBI

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