RTEL1 - regulator of telomere elongation helicase 1 Gene

Homo sapiens

Also known as NHL; RTEL; DKCA4; DKCB5; PFBMFT3; C20orf41

Gene ID: 51750 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IMP IMP: Inferred from mutant phenotype	18957201	GOA
enables DNA helicase activity	IMP IMP: Inferred from mutant phenotype	18957201	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23585563	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of t-circle formation	IMP IMP: Inferred from mutant phenotype	25620558	GOA
involved in positive regulation of telomere capping	IMP IMP: Inferred from mutant phenotype	23959892	GOA
involved in positive regulation of telomere maintenance via telomere lengthening	IMP IMP: Inferred from mutant phenotype	23959892	GOA
involved in regulation of double-strand break repair via homologous recombination	IMP IMP: Inferred from mutant phenotype	18957201	GOA
involved in telomere maintenance	IMP IMP: Inferred from mutant phenotype	23453664	GOA
involved in telomeric loop disassembly	IMP IMP: Inferred from mutant phenotype	25620558	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	23585563	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

RTEL1 Protein Structure

DEAD_2

Helicase_C_2

0
200
400
600
800
1000
1200
1300 a.a.

Protein Preferred Names

Protein Names

regulator of telomere elongation helicase 1

regulator of telomere length

RTEL1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RTEL1	Q9NZ71	MMS19	Homo sapiens	Q96T76	Anti Bait CoIP	23585563

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12317	RTEL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RTEL1	MGD	MGI:2139369
Rattus norvegicus	RTEL1	RGD	RGD:1306721
Macaca mulatta	RTEL1	VGNC	VGNC:108030

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