KEGG   Homo sapiens (human): 51750
Entry
51750             CDS       T01001                                 
Symbol
RTEL1, C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL
Name
(RefSeq) regulator of telomere elongation helicase 1
  KO
K11136  regulator of telomere elongation helicase 1 [EC:5.6.2.3]
Organism
hsa  Homo sapiens (human)
Network
nt06506  Double-strand break repair
nt06510  Telomere length regulation
  Element
N01449  Synthesis-dependent strand annealing
N01477  Telomere elongation
Disease
H00507  Dyskeratosis congenita
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    51750 (RTEL1)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.3  DNA 5'-3' helicase
     51750 (RTEL1)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Other termination factors
    51750 (RTEL1)
SSDB
Motif
Pfam: DEAD_2 Helicase_C_2 ResIII DEAD SNF2-rel_dom CCM2_C
Other DBs
NCBI-GeneID: 51750
NCBI-ProteinID: NP_057518
OMIM: 608833
HGNC: 15888
Ensembl: ENSG00000258366
UniProt: Q9NZ71
Structure
Position
20:63657810..63696253
AA seq 1219 aa
MPKIVLNGVTVDFPFQPYKCQQEYMTKVLECLQQKVNGILESPTGTGKTLCLLCTTLAWR
EHLRDGISARKIAERAQGELFPDRALSSWGNAAAAAGDPIACYTDIPKIIYASRTHSQLT
QVINELRNTSYRPKVCVLGSREQLCIHPEVKKQESNHLQIHLCRKKVASRSCHFYNNVEE
KSLEQELASPILDIEDLVKSGSKHRVCPYYLSRNLKQQADIIFMPYNYLLDAKSRRAHNI
DLKGTVVIFDEAHNVEKMCEESASFDLTPHDLASGLDVIDQVLEEQTKAAQQGEPHPEFS
ADSPSPGLNMELEDIAKLKMILLRLEGAIDAVELPGDDSGVTKPGSYIFELFAEAQITFQ
TKGCILDSLDQIIQHLAGRAGVFTNTAGLQKLADIIQIVFSVDPSEGSPGSPAGLGALQS
YKVHIHPDAGHRRTAQRSDAWSTTAARKRGKVLSYWCFSPGHSMHELVRQGVRSLILTSG
TLAPVSSFALEMQIPFPVCLENPHIIDKHQIWVGVVPRGPDGAQLSSAFDRRFSEECLSS
LGKALGNIARVVPYGLLIFFPSYPVMEKSLEFWRARDLARKMEALKPLFVEPRSKGSFSE
TISAYYARVAAPGSTGATFLAVCRGKASEGLDFSDTNGRGVIVTGLPYPPRMDPRVVLKM
QFLDEMKGQGGAGGQFLSGQEWYRQQASRAVNQAIGRVIRHRQDYGAVFLCDHRFAFADA
RAQLPSWVRPHVRVYDNFGHVIRDVAQFFRVAERTMPAPAPRATAPSVRGEDAVSEAKSP
GPFFSTRKAKSLDLHVPSLKQRSSGSPAAGDPESSLCVEYEQEPVPARQRPRGLLAALEH
SEQRAGSPGEEQAHSCSTLSLLSEKRPAEEPRGGRKKIRLVSHPEEPVAGAQTDRAKLFM
VAVKQELSQANFATFTQALQDYKGSDDFAALAACLGPLFAEDPKKHNLLQGFYQFVRPHH
KQQFEEVCIQLTGRGCGYRPEHSIPRRQRAQPVLDPTGRTAPDPKLTVSTAAAQQLDPQE
HLNQGRPHLSPRPPPTGDPGSQPQWGSGVPRAGKQGQHAVSAYLADARRALGSAGCSQLL
AALTAYKQDDDLDKVLAVLAALTTAKPEDFPLLHRFSMFVRPHHKQRFSQTCTDLTGRPY
PGMEPPGPQEERLAVPPVLTHRAPQPGPSRSEKTGKTQSKISSFLRQRPAGTVGAGGEDA
GPSQSSGPPHGPAASEWGL
NT seq 3660 nt   +upstreamnt  +downstreamnt
atgcccaagatagtcctgaatggtgtgaccgtagacttccctttccagccctacaaatgc
caacaggagtacatgaccaaggtcctggaatgtctgcagcagaaggtgaatggcatcctg
gagagccctacgggtacagggaagacgctgtgcctgctgtgcaccacgctggcctggcga
gaacacctccgagacggcatctctgcccgcaagattgccgagagggcgcaaggagagctt
ttcccggatcgggccttgtcatcctggggcaacgctgctgctgctgctggagaccccata
gcttgctacacggacatcccaaagattatttacgcctccaggacccactcgcaactcaca
caggtcatcaacgagcttcggaacacctcctaccggcctaaggtgtgtgtgctgggctcc
cgggagcagctgtgcatccatcctgaggtgaagaaacaagagagtaaccatctacagatc
cacttgtgccgtaagaaggtggcaagtcgctcctgtcatttctacaacaacgtagaagaa
aaaagcctggagcaggagctggccagccccatcctggacattgaggacttggtcaagagc
ggaagcaagcacagggtgtgcccttactacctgtcccggaacctgaagcagcaagccgac
atcatattcatgccgtacaattacttgttggatgccaagagccgcagagcacacaacatt
gacctgaaggggacagtcgtgatctttgacgaagctcacaacgtggagaagatgtgtgaa
gaatcggcatcctttgacctgactccccatgacctggcttcaggactggacgtcatagac
caggtgctggaggagcagaccaaggcagcgcagcagggtgagccccacccggagttcagc
gcggactcccccagcccagggctgaacatggagctggaagacattgcaaagctgaagatg
atcctgctgcgcctggagggggccatcgatgctgttgagctgcctggagacgacagcggt
gtcaccaagccagggagctacatctttgagctgtttgctgaagcccagatcacgtttcag
accaagggctgcatcctggactcgctggaccagatcatccagcacctggcaggacgtgct
ggagtgttcaccaacacggccggactgcagaagctggcggacattatccagattgtgttc
agtgtggacccctccgagggcagccctggttccccagcagggctgggggccttacagtcc
tataaggtgcacatccatcctgatgctggtcaccggaggacggctcagcggtctgatgcc
tggagcaccactgcagccagaaagcgagggaaggtgctgagctactggtgcttcagtccc
ggccacagcatgcacgagctggtccgccagggcgtccgctccctcatccttaccagcggc
acgctggccccggtgtcctcctttgctctggagatgcagatccctttcccagtctgcctg
gagaacccacacatcatcgacaagcaccagatctgggtgggggtcgtccccagaggcccc
gatggagcccagttgagctccgcgtttgacagacggttttccgaggagtgcttatcctcc
ctggggaaggctctgggcaacatcgcccgcgtggtgccctatgggctcctgatcttcttc
ccttcctatcctgtcatggagaagagcctggagttctggcgggcccgcgacttggccagg
aagatggaggcgctgaagccgctgtttgtggagcccaggagcaaaggcagcttctccgag
accatcagtgcttactatgcaagggttgccgcccctgggtccaccggcgccaccttcctg
gcggtctgccggggcaaggccagcgaggggctggacttctcagacacgaatggccgtggt
gtgattgtcacgggcctcccgtaccccccacgcatggacccccgggttgtcctcaagatg
cagttcctggatgagatgaagggccagggtggggctgggggccagttcctctctgggcag
gagtggtaccggcagcaggcgtccagggctgtgaaccaggccatcgggcgagtgatccgg
caccgccaggactacggagctgtcttcctctgtgaccacaggttcgcctttgccgacgca
agagcccaactgccctcctgggtgcgtccccacgtcagggtgtatgacaactttggccat
gtcatccgagacgtggcccagttcttccgtgttgccgagcgaactatgccagcgccggcc
ccccgggctacagcacccagtgtgcgtggagaagatgctgtcagcgaggccaagtcgcct
ggccccttcttctccaccaggaaagctaagagtctggacctgcatgtccccagcctgaag
cagaggtcctcagggtcaccagctgccggggaccccgagagtagcctgtgtgtggagtat
gagcaggagccagttcctgcccggcagaggcccagggggctgctggccgccctggagcac
agcgaacagcgggcggggagccctggcgaggagcaggcccacagctgctccaccctgtcc
ctcctgtctgagaagaggccggcagaagaaccgcgaggagggaggaagaagatccggctg
gtcagccacccggaggagcccgtggctggtgcacagacggacagggccaagctcttcatg
gtggccgtgaagcaggagttgagccaagccaactttgccaccttcacccaggccctgcag
gactacaagggttccgatgacttcgccgccctggccgcctgtctcggccccctctttgct
gaggaccccaagaagcacaacctgctccaaggcttctaccagtttgtgcggccccaccat
aagcagcagtttgaggaggtctgtatccagctgacaggacgaggctgtggctatcggcct
gagcacagcattccccgaaggcagcgggcacagccggtcctggaccccactggaagaacg
gcgccggatcccaagctgaccgtgtccacggctgcagcccagcagctggacccccaagag
cacctgaaccagggcaggccccacctgtcgcccaggccacccccaacaggagaccctggc
agccaaccacagtgggggtctggagtgcccagagcagggaagcagggccagcacgccgtg
agcgcctacctggctgatgcccgcagggccctggggtccgcgggctgtagccaactcttg
gcagcgctgacagcctataagcaagacgacgacctcgacaaggtgctggctgtgttggcc
gccctgaccactgcaaagccagaggacttccccctgctgcacaggttcagcatgtttgtg
cgtccacaccacaagcagcgcttctcacagacgtgcacagacctgaccggccggccctac
ccgggcatggagccaccgggaccccaggaggagaggcttgccgtgcctcctgtgcttacc
cacagggctccccaaccaggcccctcacggtccgagaagaccgggaagacccagagcaag
atctcgtccttccttagacagaggccagcagggactgtgggggcgggcggtgaggatgca
ggtcccagccagtcctcaggacctccccacgggcctgcagcatctgagtggggcctctag

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Network (4)   
   KEGG NETWORK (4)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Chemical reaction (1)   
   KEGG ENZYME (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (25)   
   KEGG ORTHOLOGY (1)   
   RefGene (18)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (21)   
   RefSeq(nuc) (5)   
   GenBank (8)   
   EMBL (8)   
3D Structure (3)   
   PDB (3)   
Protein domain (6)   
   Pfam (6)   
All databases (75)   

Download RDF
DBGET integrated database retrieval system