1. Gene
  2. CTC1 - CST telomere replication complex component 1 Gene

CTC1 - CST telomere replication complex component 1 Gene

中文名称:CST 端粒复制复杂组件 1

种属: Homo sapiens

同用名: CRMCC; AAF132; AAF-132; C17orf68; tmp494178

基因 ID: 80169 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 CST 复合体的一个成分。这种复合物在保护端粒免于降解方面起着至关重要的作用。该蛋白质还与 CST 复合物亚基 STN1 形成异二聚体,形成酶 α 辅助因子。这种酶调节 DNA 复制。该基因的突变是导致钙化和囊肿的脑视网膜微血管病的原因。交替剪接导致编码和非编码变体。[RefSeq 提供,2012 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
19854130 GOA
enables telomeric DNA binding IDA
IDA: 通过直接分析推断
19854130 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of telomere maintenance via telomerase IDA
IDA: 通过直接分析推断
22763445 GOA
involved in telomere maintenance IMP
IMP: 通过突变表型推断
19854131 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of CST complex IDA
IDA: 通过直接分析推断
19854130 GOA
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
19854130 GOA
located in nucleus IDA
IDA: 通过直接分析推断
19854130 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CTC1 蛋白结构

CTC1

CTC1: CST, telomere maintenance, complex subunit CTC1 (60 - 1201)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1217 a.a.
蛋白主名 其他名称

CST complex subunit CTC1

CST telomere maintenance complex component 1

CTC1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
CTC1 Q2NKJ3 TEN1 Homo sapiens Q86WV5
GMS
19854130
种属内
CTC1 Q2NKJ3 TEN1 Homo sapiens Q86WV5 19854130
种属内
CTC1 Q2NKJ3 APPBP2 Homo sapiens Q92624 25416956
种属内
CTC1 Q2NKJ3 STN1 Homo sapiens Q9H668
IF
19854130
种属内
CTC1 Q2NKJ3 STN1 Homo sapiens Q9H668 19854130
种属内
CTC1 Q2NKJ3 STN1 Homo sapiens Q9H668
GMS
19854130
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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