RTEL1 - regulator of telomere elongation helicase 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51750

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	Verweise	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	Verweise	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	Verweise	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	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS12317	RTEL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	RTEL1	NCBI