1. Gene
  2. RTEL1 - regulator of telomere elongation helicase 1 Gene

RTEL1 - regulator of telomere elongation helicase 1 Gene

中文名称:端粒延长解旋酶 1 调节因子

种属: Homo sapiens

同用名: NHL; RTEL; DKCA4; DKCB5; PFBMFT3; C20orf41

基因 ID: 51750 | 基因类型: protein coding

关于 RTEL1

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,657,810-63,696,253 (from NCBI)

This gene has 21 transcripts (splice variants), 196 orthologues, 3 paralogues and is associated with 6 phenotypes. Ubiquitous expression in testis (RPKM 6.4), appendix (RPKM 4.8) and 25 other tissues.

功能概要

该基因编码一种 DNA 解旋酶,它在端粒的稳定性、保护和延长中发挥作用,并与已知在 DNA 复制过程中保护端粒的 shelterin 复合物中的蛋白质相互作用。该基因的突变与先天性角化不良和 Hoyerall-Hreidarsson 综合征有关。将该基因通读转录到邻近的下游基因中,该基因编码肿瘤坏死因子受体超家族成员 6b,生成非编码转录本。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2013 年 9 月]

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

RTEL1 基因产物(4)

mRNA Protein Name
NM_001283009.2 NP_001269938.1 regulator of telomere elongation helicase 1 isoform 3
NM_001283010.1 NP_001269939.1 regulator of telomere elongation helicase 1 isoform 4
NM_016434.4 NP_057518.1 regulator of telomere elongation helicase 1 isoform 1
NM_032957.5 NP_116575.3 regulator of telomere elongation helicase 1 isoform 2
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 ATP binding IMP
IMP: 通过突变表型推断
18957201 GOA
enables DNA helicase activity IMP
IMP: 通过突变表型推断
18957201 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23585563 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of t-circle formation IMP
IMP: 通过突变表型推断
25620558 GOA
involved in positive regulation of telomere capping IMP
IMP: 通过突变表型推断
23959892 GOA
involved in positive regulation of telomere maintenance via telomere lengthening IMP
IMP: 通过突变表型推断
23959892 GOA
involved in regulation of double-strand break repair via homologous recombination IMP
IMP: 通过突变表型推断
18957201 GOA
involved in telomere maintenance IMP
IMP: 通过突变表型推断
23453664 GOA
involved in telomeric loop disassembly IMP
IMP: 通过突变表型推断
25620558 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
23585563 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

RTEL1 蛋白结构

DEAD_2

DEAD_2: DEAD_2 (111 - 272)

Helicase_C_2

Helicase_C_2: Helicase C-terminal domain (546 - 731)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1300 a.a.
蛋白主名 其他名称

regulator of telomere elongation helicase 1

regulator of telomere length

RTEL1 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
Intra RTEL1 Q9NZ71 MMS19 Homo sapiens Q96T76
Anti Bait CoIP
23585563
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
Dyskeratosis Congenita, Autosomal Recessive 5

Dyskeratosis Congenita, Autosomal Dominant, 4

DKCB5

Autosomal Dominant Dyskeratosis Congenita 4

DKCA4

Autosomal Recessive Dyskeratosis Congenita 5

Dyskeratosis Congenita, Autosomal Recessive, 5

Dyskeratosis Congenita, Autosomal Dominant 4

Dyskeratosis Congenita, Autosomal Recessive, Type 5

Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3

PFBMFT3

Pulmonary Fibrosis, And/Or Bone Marrow Failure, Telomere-Related, 3

Fibrosis, Pulmonary, And/Or Bone Marrow Failure, Telomere-Related, Type 3

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

Interstitial Lung Disease 2

Idiopathic Pulmonary Fibrosis

Ipf

Fibrocystic Pulmonary Dysplasia

Pulmonary Fibrosis, Idiopathic

Pulmonary Fibrosis, Idiopathic, Susceptibility To

Cryptogenic Fibrosing Alveolitis

ILD2

Idiopathic Pulmonary Fibrosis, Familial

Fibrosing Alveolitis, Cryptogenic

Uip

Fibrosing Alveolitis

Interstitial Pneumonitis, Usual

Familial Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis, Chronic Form

Usual Interstitial Pneumonia

Fibrosing Alveolitis Cryptogenic

Hamman-Rich Disease

Idiopathic Pulmonary Fibrosis Familial

Interstitial Pneumonitis Usual

Fibrosis Idiopathic Pulmonary

Fibrosis, Pulmonary, Idiopathic

Hamman-Rich Syndrome

Chronic Idiopathic Pulmonary Fibrosis

Acute Interstitial Pneumonia

Interstitial Pulmonary Fibrosis

Ipf - [Idiopathic Pulmonary Fibrosis]

Idiopathic Lung Fibrosis

Fibrosing Lung Disease

Pulmonary Fibrosis Nos

Fibrosing Pneumonitis

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

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Pulmonary Fibrosis

Fibrosis Of Lung

Dyskeratosis Congenita Autosomal Recessive

Autosomal Recessive Dyskeratosis Congenita

Dkcb

Dyskeratosis Congenita, Autosomal Recessive

Cerebellar Hypoplasia
Fanconi Anemia, Complementation Group J

Fanconi Anemia Complementation Group J

FANCJ

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

Warsaw Breakage Syndrome

WABS

WBRS

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

Immunodeficiency 55

Combined Immunodeficiency Due To Gins1 Deficiency

IMD55

Cid Due To Gins1 Deficiency

Combined Immunodeficiency With Intrauterine Growth Retardation-Nk Cell Deficiency-Neutropenia

Combined Immunodeficiency With Intrauterine Growth Retardation-Natural Killer Cell Deficiency-Neutropenia

Melanoma-Astrocytoma Syndrome

Melanoma And Neural System Tumor Syndrome

Melanoma Astrocytoma Syndrome

MASTS

Xeroderma Pigmentosum, Complementation Group D

Xeroderma Pigmentosum, Group D

Xpdc

Xeroderma Pigmentosum Iv

XPD

Xeroderma Pigmentosum Group D

Xeroderma Pigmentosum Viii

Xp Group D

Xp Group H

Xp4

Xp8

Xph

Xp, Group D

Xp4 Xeroderma Pigmentosum Viii, Formerly

Xp8, Formerly

Xp, Group H, Formerly

Xph, Formerly

Xeroderma Pigmentosum Complementation Group D

XP-D

Xp-D/Cs

Idiopathic Interstitial Pneumonia

Hamman-Rich Syndrome

Diffuse Idiopathic Pulmonary Fibrosis

Idiopathic Fibrosing Alveolitis

Ipf

Idiopathic Interstitial Pneumonias

Idiopathic Interstitial Pneumonia, Not Otherwise Specified

Pulmonary Fibrosis

Nonspecific Interstitial Pneumonia

Nsip

Non-Specific Interstitial Pneumonia

Non-Specific Idiopathic Interstitial Pneumonia

Non-Specific Interstitial Pneumonia Nos

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Coats Disease

Exudative Retinopathy

Retinal Telangiectasis

Coats' Disease

Leber Miliary Aneurysm

Coats' Syndrome

Congenital Retinal Telangiectasia

Enchondromatosis, Multiple, Ollier Type

Ollier Disease

Enchondromatosis

Dyschondroplasia

Osteochondromatosis

Multiple Cartilaginous Enchondroses

Multiple Enchondromatosis

Enchondromatosis With Haemangiomata

Enchondromatosis, Multiple

Kast'S Syndrome

Ollier'S Syndrome

Enchondromatosis Multiple

ENCHOM

Maffucci Disease

Olliers Disease

Hereditary Multiple Exostoses

Chondromatosis

Trichothiodystrophy

Ttd

Amish Brittle Hair Syndrome

Bids Syndrome

Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome

Ibids

Pibids

Trichothiodystrophy Syndromes

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 1

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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

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

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Mus musculus RTEL1 MGD MGI:2139369
Rattus norvegicus RTEL1 RGD RGD:1306721
Macaca mulatta RTEL1 VGNC VGNC:108030