CTC1 - CST telomere replication complex component 1 Gene

Also Known as CRMCC; AAF132; AAF-132; C17orf68; tmp494178

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80169

About CTC1

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:8,224,815-8,248,056 (from NCBI)

This gene has 28 transcripts (splice variants), 181 orthologues and is associated with 4 phenotypes. Ubiquitous expression in lymph node (RPKM 10.4), spleen (RPKM 9.8) and 25 other tissues.

Summary

This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]

CTC1 Products (2)

mRNA	Protein	Name
NM_001411067.1	NP_001397996.1	CST complex subunit CTC1 isoform 2
NM_025099.6	NP_079375.3	CST complex subunit CTC1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19854130	GOA
enables telomeric DNA binding	IDA IDA: Inferred from direct assay	19854130	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in negative regulation of telomere maintenance via telomerase	IDA IDA: Inferred from direct assay	22763445	GOA
involved in telomere maintenance	IMP IMP: Inferred from mutant phenotype	19854131	GOA

Cellular Component GO Annotation	Evidence	Références	Source
part of CST complex	IDA IDA: Inferred from direct assay	19854130	GOA
located in chromosome, telomeric region	IDA IDA: Inferred from direct assay	19854130	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19854130	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

CTC1 Protein Structure

CTC1

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1217 a.a.

Protein Preferred Names	Protein Names
CST complex subunit CTC1	CST telomere maintenance complex component 1

CTC1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	CTC1	Q2NKJ3	TEN1	Homo sapiens	Q86WV5	GMS	19854130
Intra	CTC1	Q2NKJ3	TEN1	Homo sapiens	Q86WV5	Anti Tag CoIP	19854130
Intra	CTC1	Q2NKJ3	APPBP2	Homo sapiens	Q92624	Y2H Array	25416956
Intra	CTC1	Q2NKJ3	STN1	Homo sapiens	Q9H668	IF	19854130
Intra	CTC1	Q2NKJ3	STN1	Homo sapiens	Q9H668	Anti Tag CoIP	19854130
Intra	CTC1	Q2NKJ3	STN1	Homo sapiens	Q9H668	GMS	19854130

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Coats Plus Syndrome Cerebroretinal Microangiopathy With Calcifications And Cysts Crmcc CRMCC1 Microangiopathy, Cerebroretinal, With Calcifications And Cysts Cerebral Small Vessel Diseases
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
Retinal Telangiectasia
Coats Disease	Exudative Retinopathy Retinal Telangiectasis Coats' Disease Leber Miliary Aneurysm Coats' Syndrome Congenital Retinal Telangiectasia
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
Dextrocardia	Heart Predominantly In Right Hemithorax Heart In Right Chest Right-Sided Heart Congenital Dextrocardia Of Heart Transposition Of Heart
Portal Hypertension	Hypertension, Portal Hypertension Portal Pht - [Portal Hypertension] Portal Htn
Glioblastoma Mesenchymal Subtype
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	X-Linked Dyserythropoietic Anemia X-Linked Dyserythropoietic Anemia With Abnormal Platelets And Neutropenia XLANP Anemia, X-Linked, With/Without Neutropenia And/Or Platelet Abnormalities X-Linked Anemia With/Without Neutropenia And/Or Platelet Abnormalities Anemia Without Thrombocytopenia, X-Linked XLAWT Anemia X-Linked With Variable Neutropenia
Leukodystrophy	Leukodystrophies
Spasticity
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
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Thrombocytopenia	Low Platelet Count Low Platelets Decreased Platelets Platelet Dysfunction Nos
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome

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

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS03286	CTC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W392413	Glutathione monoethyl ester	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CTC1	VGNC	VGNC:71586
Felis catus	CTC1	VGNC	VGNC:61244
Mus musculus	CTC1	MGD	MGI:1916214
Rattus norvegicus	CTC1	RGD	RGD:1563106
Bos taurus	CTC1	VGNC	VGNC:27787
Canis familiaris	CTC1	VGNC	VGNC:39689
Others	CTC1	NCBI