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Aliases for RTEL1 Gene

Aliases for RTEL1 Gene

  • Regulator Of Telomere Elongation Helicase 1 2 3 5
  • C20orf41 3 4
  • NHL 3 4
  • Chromosome 20 Open Reading Frame 41 2
  • Regulator Of Telomere Length 3
  • Novel Helicase-Like 4
  • EC 3.6.4.12 4
  • KIAA1088 4
  • EC 3.6.1 58
  • PFBMFT3 3
  • DKCA4 3
  • DKCB5 3
  • RTEL 3

External Ids for RTEL1 Gene

Previous HGNC Symbols for RTEL1 Gene

  • C20orf41

Previous GeneCards Identifiers for RTEL1 Gene

  • GC20P061760
  • GC20P062289
  • GC20P059019

Summaries for RTEL1 Gene

Entrez Gene Summary for RTEL1 Gene

  • 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]

GeneCards Summary for RTEL1 Gene

RTEL1 (Regulator Of Telomere Elongation Helicase 1) is a Protein Coding gene. Diseases associated with RTEL1 include Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3 and Dyskeratosis Congenita, Autosomal Recessive 5. Among its related pathways are Cytosolic iron-sulfur cluster assembly and DNA Double-Strand Break Repair. GO annotations related to this gene include nucleic acid binding and ATP-dependent helicase activity. An important paralog of this gene is RTEL1-TNFRSF6B.

UniProtKB/Swiss-Prot for RTEL1 Gene

  • ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.

Additional gene information for RTEL1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RTEL1 Gene

Genomics for RTEL1 Gene

Regulatory Elements for RTEL1 Gene

Enhancers for RTEL1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20H063694 1.5 Ensembl ENCODE dbSUPER 39.7 +40.0 39951 7 HNRNPUL1 MLX GLIS2 ZNF207 FOS RUNX3 PAF1 SP3 SP5 MXD4 RTEL1 DIDO1 LIME1 CICP4 PRPF6 GMEB2 UCKL1 YTHDF1 MIR647 SLC2A4RG
GH20H063845 1.6 Ensembl ENCODE dbSUPER 36.4 +189.5 189517 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YBX1 FEZF1 DMAP1 ZBTB7B DIDO1 MIR647 UCKL1 PCMTD2 TNFRSF6B RTEL1 ZNF512B PRPF6 ENSG00000237371 CICP4
GH20H063657 1.2 ENCODE 45.8 +0.6 625 2 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 ZNF610 GLIS1 DIDO1 GMEB2 LINC00029 MIR647 RTEL1 LOC105372725 STMN3 UCKL1 TCEA2 MRGBP
GH20H062922 1.7 FANTOM5 ENCODE dbSUPER 21.8 -731.3 -731345 8 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 DIDO1 GMEB2 TAF4 RTEL1 GID8 ARFRP1 MRGBP TNFRSF6B YTHDF1 LSM14B
GH20H063735 1.4 ENCODE dbSUPER 22.5 +81.0 81033 6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 DIDO1 RTEL1 LIME1 ENSG00000237371 MIR647 GMEB2 PRPF6 ARFRP1 ENSG00000273047 SLC2A4RG
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RTEL1 on UCSC Golden Path with GeneCards custom track

Promoters for RTEL1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000139936 790 1201 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZFP41 ZNF610 NBN

Genomic Location for RTEL1 Gene

Chromosome:
20
Start:
63,657,810 bp from pter
End:
63,696,253 bp from pter
Size:
38,444 bases
Orientation:
Plus strand

Genomic View for RTEL1 Gene

Genes around RTEL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RTEL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RTEL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RTEL1 Gene

Proteins for RTEL1 Gene

  • Protein details for RTEL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZ71-RTEL1_HUMAN
    Recommended name:
    Regulator of telomere elongation helicase 1
    Protein Accession:
    Q9NZ71
    Secondary Accessions:
    • A2A397
    • A2A398
    • B4DRM5
    • B4DYM3
    • B4E3N6
    • E1P5J4
    • E1P5J5
    • Q5JTV3
    • Q5JTV4
    • Q9BW37
    • Q9H402
    • Q9H4X6
    • Q9NX25
    • Q9NZ73
    • Q9UPR4
    • Q9Y4R6

    Protein attributes for RTEL1 Gene

    Size:
    1219 amino acids
    Molecular mass:
    133683 Da
    Quaternary structure:
    • Interacts with TERF1. Interacts (via PIP-box) with PCNA; the interaction is direct and essential for suppressing telomere fragility. Interacts with MMS19; the interaction mediates the association of RTEL1 with the cytosolic iron-sulfur protein assembly (CIA) complex.
    Miscellaneous:
    • Amplified in gastric tumors.

    Alternative splice isoforms for RTEL1 Gene

neXtProt entry for RTEL1 Gene

Selected DME Specific Peptides for RTEL1 Gene

Q9NZ71:
  • SRTHSQL
  • ILTSGTLAP
  • CVLGSREQLCI
  • RAVNQAIGRVIRH
  • ILDIEDL
  • AALTTAKPE
  • DIIQIVFSVD
  • LCIHPEV
  • KTQSKISS
  • GATFLAVCRGKASEGLDFSD
  • CQQEYMTKVLECLQ
  • PYNYLLD
  • NGRGVIVTGLPYPPRMDPRV
  • GVTKPGSYIFELFAEAQITFQTKGCIL
  • DEAHNVEKMCEE
  • FVRPHHKQ
  • KVNGILES
  • ESPTGTGK
  • ECLSSLGK

Post-translational modifications for RTEL1 Gene

  • Ubiquitination at isoforms=2, 4, 6, 7, 8, 9543 and Lys626
  • Modification sites at PhosphoSitePlus

Domains & Families for RTEL1 Gene

Gene Families for RTEL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for RTEL1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZ71

UniProtKB/Swiss-Prot:

RTEL1_HUMAN :
  • The PIP-box (PCNA interacting peptide) motif mediates the interaction with PCNA and localization to replication foci.
  • Belongs to the helicase family. RAD3/XPD subfamily.
Domain:
  • The PIP-box (PCNA interacting peptide) motif mediates the interaction with PCNA and localization to replication foci.
Family:
  • Belongs to the helicase family. RAD3/XPD subfamily.
genes like me logo Genes that share domains with RTEL1: view

Function for RTEL1 Gene

Molecular function for RTEL1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.

Enzyme Numbers (IUBMB) for RTEL1 Gene

Phenotypes From GWAS Catalog for RTEL1 Gene

Gene Ontology (GO) - Molecular Function for RTEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0004003 ATP-dependent DNA helicase activity TAS --
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI 23959892
genes like me logo Genes that share ontologies with RTEL1: view
genes like me logo Genes that share phenotypes with RTEL1: view

Human Phenotype Ontology for RTEL1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RTEL1 Gene

MGI Knock Outs for RTEL1:

Animal Model Products

CRISPR Products

miRNA for RTEL1 Gene

miRTarBase miRNAs that target RTEL1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RTEL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Transcription Factor Targets and HOMER Transcription for RTEL1 Gene

Localization for RTEL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RTEL1 Gene

Nucleus. Note=Colocalizes with PCNA within the replication foci in S-phase cells. {ECO:0000255 HAMAP-Rule:MF_03065}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RTEL1 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RTEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region ISS --
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with RTEL1: view

Pathways & Interactions for RTEL1 Gene

genes like me logo Genes that share pathways with RTEL1: view

Gene Ontology (GO) - Biological Process for RTEL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance ISS --
GO:0000732 strand displacement TAS,ISS --
GO:0006139 nucleobase-containing compound metabolic process IEA --
GO:0006260 DNA replication IEA --
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with RTEL1: view

No data available for SIGNOR curated interactions for RTEL1 Gene

Drugs & Compounds for RTEL1 Gene

(3) Drugs for RTEL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Nutra Agonist 0

(1) Additional Compounds for RTEL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with RTEL1: view

Transcripts for RTEL1 Gene

Unigene Clusters for RTEL1 Gene

Regulator of telomere elongation helicase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RTEL1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RTEL1 Gene

No ASD Table

Relevant External Links for RTEL1 Gene

GeneLoc Exon Structure for
RTEL1
ECgene alternative splicing isoforms for
RTEL1

Expression for RTEL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RTEL1 Gene

Protein differential expression in normal tissues from HIPED for RTEL1 Gene

This gene is overexpressed in Serum (59.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RTEL1 Gene



NURSA nuclear receptor signaling pathways regulating expression of RTEL1 Gene:

RTEL1

SOURCE GeneReport for Unigene cluster for RTEL1 Gene:

Hs.745057

Evidence on tissue expression from TISSUES for RTEL1 Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RTEL1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • salivary gland
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • urinary bladder
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RTEL1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for RTEL1 Gene

Orthologs for RTEL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RTEL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RTEL1 33
  • 98.62 (n)
-- 34
  • 86 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RTEL1 33
  • 81.42 (n)
-- 34
  • 74 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RTEL1 33 34
  • 81.08 (n)
mouse
(Mus musculus)
Mammalia Rtel1 33 16 34
  • 78.38 (n)
rat
(Rattus norvegicus)
Mammalia Rtel1 33
  • 78.26 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 62 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 61 (a)
OneToMany
chicken
(Gallus gallus)
Aves RTEL1 33
  • 61.9 (n)
-- 34
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii rtel1 33 34
  • 58.28 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta RTEL1_ANOGA 33
  • 53.23 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4078 33 34
  • 51.09 (n)
worm
(Caenorhabditis elegans)
Secernentea rtel-1 33 34
  • 44.91 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CHL1 34
  • 21 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G79950 33
  • 47.14 (n)
rice
(Oryza sativa)
Liliopsida Os01g0592900 33
  • 50.31 (n)
Os.33016 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToMany
Species where no ortholog for RTEL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for RTEL1 Gene

ENSEMBL:
Gene Tree for RTEL1 (if available)
TreeFam:
Gene Tree for RTEL1 (if available)

Paralogs for RTEL1 Gene

Paralogs for RTEL1 Gene

(5) SIMAP similar genes for RTEL1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with RTEL1: view

Variants for RTEL1 Gene

Sequence variations from dbSNP and Humsavar for RTEL1 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs370343781 Pathogenic, Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] 63,687,765(+) GAGAT(G/T)CAGAT nc-transcript-variant, reference, missense
rs398123016 Pathogenic, Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] 63,690,161(+) CTTTG(G/T)CCATG nc-transcript-variant, reference, missense
rs398123018 Pathogenic, Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] 63,693,160(+) TTGTG(A/C/G/T)GGCCC nc-transcript-variant, reference, synonymous-codon, missense
rs398123019 Pathogenic, Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] 63,672,607(+) TTGAC(A/G)AAGCT nc-transcript-variant, reference, missense
rs398123048 Pathogenic, Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190] 63,689,821(+) GTGAT(C/G)CGGCA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for RTEL1 Gene

Variant ID Type Subtype PubMed ID
dgv7676n54 CNV loss 21841781
esv2006909 CNV deletion 18987734
esv2722952 CNV deletion 23290073
esv2722953 CNV deletion 23290073
esv2722954 CNV deletion 23290073
esv2722955 CNV deletion 23290073
esv2722956 CNV deletion 23290073
esv2722957 CNV deletion 23290073
esv2722958 CNV deletion 23290073
esv2758806 CNV gain+loss 17122850
esv2762091 CNV loss 21179565
esv29168 CNV loss 19812545
esv3385870 CNV duplication 20981092
esv3646324 CNV loss 21293372
esv5108 CNV loss 18987735
esv988534 CNV gain 20482838
esv992110 CNV insertion 20482838
nsv1072137 CNV deletion 25765185
nsv1160690 CNV deletion 26073780
nsv179257 CNV deletion 16902084
nsv189 CNV insertion 15895083
nsv3449 CNV insertion 18451855
nsv428381 CNV gain+loss 18775914
nsv470563 CNV loss 18288195
nsv586611 CNV loss 21841781
nsv820558 CNV deletion 20802225
nsv953308 CNV deletion 24416366
nsv954284 CNV deletion 24416366
nsv9828 CNV gain+loss 18304495

Variation tolerance for RTEL1 Gene

Residual Variation Intolerance Score: 95.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.80; 79.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RTEL1 Gene

Human Gene Mutation Database (HGMD)
RTEL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RTEL1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RTEL1 Gene

Disorders for RTEL1 Gene

MalaCards: The human disease database

(18) MalaCards diseases for RTEL1 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
  • pulmonary fibrosis and/or bone marrow failure, telomere-related 3
dyskeratosis congenita, autosomal recessive 5
  • dyskeratosis congenita, autosomal dominant 4
dyskeratosis congenita
  • zinsser-cole-engman syndrome
rtel1-related dyskeratosis congenita
  • dyskeratosis congenita, autosomal dominant 4
pulmonary fibrosis, idiopathic
  • idiopathic pulmonary fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search RTEL1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RTEL1_HUMAN
  • Dyskeratosis congenita, autosomal dominant, 4 (DKCA4) [MIM:615190]: A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269 PubMed:23329068}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dyskeratosis congenita, autosomal recessive, 5 (DKCB5) [MIM:615190]: A form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. DKCB5 is characterized by onset of bone marrow failure and immunodeficiency in early childhood. Most patients also have growth and developmental delay and cerebellar hypoplasia, consistent with a clinical diagnosis of Hoyeraal-Hreidarsson syndrome. {ECO:0000269 PubMed:23329068, ECO:0000269 PubMed:23453664, ECO:0000269 PubMed:23591994, ECO:0000269 PubMed:23959892, ECO:0000269 PubMed:24009516}. Note=The disease is caused by mutations affecting the gene represented in this entry. RTEL1 mutations have also been found in patients with a dyskeratosis congenita-like phenotype consisting of one feature of dyskeratosis congenita and short telomeres, in the absence of the typical DKC diagnostic triad (PubMed:23329068). {ECO:0000269 PubMed:23329068}.
  • Pulmonary fibrosis, and/or bone marrow failure, telomere-related, 3 (PFBMFT3) [MIM:616373]: A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length. {ECO:0000269 PubMed:25848748}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RTEL1

Genetic Association Database (GAD)
RTEL1
Human Genome Epidemiology (HuGE) Navigator
RTEL1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RTEL1
genes like me logo Genes that share disorders with RTEL1: view

No data available for Genatlas for RTEL1 Gene

Publications for RTEL1 Gene

  1. Overexpression of M68/DcR3 in human gastrointestinal tract tumors independent of gene amplification and its location in a four-gene cluster. (PMID: 10655513) Bai C … Caskey CT (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 22 60
  2. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening. (PMID: 25848748) Stuart BD … Garcia CK (Nature genetics 2015) 3 4 60
  3. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. (PMID: 24009516) Ballew BJ … Petrini JH (PLoS genetics 2013) 3 4 60
  4. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. (PMID: 23959892) Deng Z … Tzfati Y (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 60
  5. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. (PMID: 23591994) Le Guen T … Revy P (Human molecular genetics 2013) 3 4 60

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