• Gene id: 51750

Gene Summary

• Gene Symbol: RTEL1   Gene   UCSC   Ensembl
• Aliases: C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL
• Gene name: regulator of telomere elongation helicase 1
• Alternate names: regulator of telomere elongation helicase 1, regulator of telomere length,
• Gene location: 20q13.33 (63657809: 63696252)     Exons: 35     NC_000020.11
• Gene summary(Entrez): 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 w
• OMIM: 608833

Protein Summary

• Protein general information: Q9NZ71  
  • Name: Regulator of telomere elongation helicase 1 (EC 3.6.4.12) (Novel helicase like)
  • Length: 1219  
  • Mass: 133683
• Sequence:

  MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWREHLRDGISARKIAER
  AQGELFPDRALSSWGNAAAAAGDPIACYTDIPKIIYASRTHSQLTQVINELRNTSYRPKVCVLGSREQLCIHPEV
  KKQESNHLQIHLCRKKVASRSCHFYNNVEEKSLEQELASPILDIEDLVKSGSKHRVCPYYLSRNLKQQADIIFMP
  YNYLLDAKSRRAHNIDLKGTVVIFDEAHNVEKMCEESASFDLTPHDLASGLDVIDQVLEEQTKAAQQGEPHPEFS
  ADSPSPGLNMELEDIAKLKMILLRLEGAIDAVELPGDDSGVTKPGSYIFELFAEAQITFQTKGCILDSLDQIIQH
  LAGRAGVFTNTAGLQKLADIIQIVFSVDPSEGSPGSPAGLGALQSYKVHIHPDAGHRRTAQRSDAWSTTAARKRG
  KVLSYWCFSPGHSMHELVRQGVRSLILTSGTLAPVSSFALEMQIPFPVCLENPHIIDKHQIWVGVVPRGPDGAQL
  SSAFDRRFSEECLSSLGKALGNIARVVPYGLLIFFPSYPVMEKSLEFWRARDLARKMEALKPLFVEPRSKGSFSE
  TISAYYARVAAPGSTGATFLAVCRGKASEGLDFSDTNGRGVIVTGLPYPPRMDPRVVLKMQFLDEMKGQGGAGGQ
  FLSGQEWYRQQASRAVNQAIGRVIRHRQDYGAVFLCDHRFAFADARAQLPSWVRPHVRVYDNFGHVIRDVAQFFR
  VAERTMPAPAPRATAPSVRGEDAVSEAKSPGPFFSTRKAKSLDLHVPSLKQRSSGSPAAGDPESSLCVEYEQEPV
  PARQRPRGLLAALEHSEQRAGSPGEEQAHSCSTLSLLSEKRPAEEPRGGRKKIRLVSHPEEPVAGAQTDRAKLFM
  VAVKQELSQANFATFTQALQDYKGSDDFAALAACLGPLFAEDPKKHNLLQGFYQFVRPHHKQQFEEVCIQLTGRG
  CGYRPEHSIPRRQRAQPVLDPTGRTAPDPKLTVSTAAAQQLDPQEHLNQGRPHLSPRPPPTGDPGSQPQWGSGVP
  RAGKQGQHAVSAYLADARRALGSAGCSQLLAALTAYKQDDDLDKVLAVLAALTTAKPEDFPLLHRFSMFVRPHHK
  QRFSQTCTDLTGRPYPGMEPPGPQEERLAVPPVLTHRAPQPGPSRSEKTGKTQSKISSFLRQRPAGTVGAGGEDA
  GPSQSSGPPHGPAASEWGL

• Structural information:
  • Protein Domains: (7..29-)
    (/note="Helicase-ATP-binding)
    (/evidence="ECO:0000255|HAMAP-Rule:MF_03065"-)
  • Interpro: IPR006555  IPR010614  IPR014013  IPR006554  IPR027417   IPR013020  IPR030845  
  • Prosite: PS51193
  • STRING: ENSP00000353332
• Other Databases: GeneCards:  RTEL1  Malacards:  RTEL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904430	negative regulation of t-circle formation	IBA	biological process
GO:0070182	DNA polymerase binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005524	ATP binding	IBA	molecular function
GO:0090657	telomeric loop disassembly	IBA	biological process
GO:0045910	negative regulation of DNA recombination	IBA	biological process
GO:0032508	DNA duplex unwinding	IBA	biological process
GO:0010569	regulation of double-strand break repair via homologous recombination	IBA	biological process
GO:0003678	DNA helicase activity	IBA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0000723	telomere maintenance	IMP	biological process
GO:0000723	telomere maintenance	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000723	telomere maintenance	IEA	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006139	nucleobase-containing compound metabolic process	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0000732	strand displacement	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904355	positive regulation of telomere capping	IMP	biological process
GO:0032206	positive regulation of telomere maintenance	ISS	biological process
GO:0090657	telomeric loop disassembly	ISS	biological process
GO:1904535	positive regulation of telomeric loop disassembly	ISS	biological process
GO:1904358	positive regulation of telomere maintenance via telomere lengthening	IMP	biological process
GO:0043247	telomere maintenance in response to DNA damage	ISS	biological process
GO:1904430	negative regulation of t-circle formation	ISS	biological process
GO:1904506	negative regulation of telomere maintenance in response to DNA damage	ISS	biological process
GO:0003678	DNA helicase activity	ISS	molecular function
GO:0031297	replication fork processing	ISS	biological process
GO:0032508	DNA duplex unwinding	ISS	biological process
GO:1902990	mitotic telomere maintenance via semi-conservative replication	ISS	biological process
GO:1904430	negative regulation of t-circle formation	TAS	biological process
GO:1904430	negative regulation of t-circle formation	ISS	biological process
GO:0090657	telomeric loop disassembly	IMP	biological process
GO:0000732	strand displacement	ISS	biological process
GO:0045910	negative regulation of DNA recombination	ISS	biological process
GO:0000781	chromosome, telomeric region	ISS	cellular component
GO:1904430	negative regulation of t-circle formation	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0000723	telomere maintenance	IEA	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0010569	regulation of double-strand break repair via homologous recombination	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005524	ATP binding	IMP	molecular function
GO:0010569	regulation of double-strand break repair via homologous recombination	IMP	biological process
GO:0003678	DNA helicase activity	IMP	molecular function

Diseases

Associated diseases	References
Dyskeratosis congenita	KEGG:H00507
Dyskeratosis congenita	KEGG:H00507
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq