KEGG   Homo sapiens (human): 7012
Entry
7012              ncRNA     T01001                                 
Symbol
TERC, DKCA1, PFBMFT2, SCARNA19, TER, TR, TRC3, hTR
Name
(RefSeq) telomerase RNA component
  KO
K22183  telomerase RNA component
Organism
hsa  Homo sapiens (human)
Pathway
hsa05200  Pathways in cancer
hsa05225  Hepatocellular carcinoma
hsa05226  Gastric cancer
Network
nt06232  Telomerase activity (cancer)
nt06261  Gastric cancer
nt06263  Hepatocellular carcinoma
nt06510  Telomere length regulation
  Element
N00239  Telomerase activity
N00240  TERT-overexpression to telomerase activity
N01475  Telomerase RNA maturation
N01476  Assembly and trafficking of telomerase
N01477  Telomere elongation
Disease
H00507  Dyskeratosis congenita
H01132  Aplastic anemia
H01299  Idiopathic pulmonary fibrosis
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    7012 (TERC)
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    7012 (TERC)
   05226 Gastric cancer
    7012 (TERC)
 09180 Brite Hierarchies
  09184 RNA family
   03100 Non-coding RNAs [BR:hsa03100]
    7012 (TERC)
Non-coding RNAs [BR:hsa03100]
 Other eukaryotic RNA
  Unclassified
   7012 (TERC)
SSDB
Other DBs
NCBI-GeneID: 7012
OMIM: 602322
HGNC: 11727
Ensembl: ENSG00000277925
LinkDB
Position
3:complement(169764610..169765060)
NT seq 451 nt   +upstreamnt  +downstreamnt
gggttgcggagggtgggcctgggaggggtggtggccattttttgtctaaccctaactgag
aagggcgtaggcgccgtgcttttgctccccgcgcgctgtttttctcgctgactttcagcg
ggcggaaaagcctcggcctgccgccttccaccgttcattctagagcaaacaaaaaatgtc
agctgctggcccgttcgcccctcccggggacctgcggcgggtcgcctgcccagcccccga
accccgcctggaggccgcggtcggcccggggcttctccggaggcacccactgccaccgcg
aagagttgggctctgtcagccgcgggtctctcgggggcgagggcgaggttcaggcctttc
aggccgcaggaagaggaacggagcgagtccccgcgcgcggcgcgattccctgagctgtgg
gacgtgcacccaggactcggctcacacatgc

KEGG   Homo sapiens (human): 7015
Entry
7015              CDS       T01001                                 
Symbol
TERT, CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1, TP2, TRT, hEST2, hTRT
Name
(RefSeq) telomerase reverse transcriptase
  KO
K11126  telomerase reverse transcriptase [EC:2.7.7.49]
Organism
hsa  Homo sapiens (human)
Pathway
hsa05165  Human papillomavirus infection
hsa05166  Human T-cell leukemia virus 1 infection
hsa05200  Pathways in cancer
hsa05225  Hepatocellular carcinoma
hsa05226  Gastric cancer
Network
nt06160  Human T-cell leukemia virus 1 (HTLV-1)
nt06166  Human papillomavirus (HPV)
nt06232  Telomerase activity (cancer)
nt06261  Gastric cancer
nt06263  Hepatocellular carcinoma
nt06510  Telomere length regulation
  Element
N00240  TERT-overexpression to telomerase activity
N00373  HPV E6 to NFX1-mediated transcription
N00512  HTLV-1 Tax to c-myc-mediated transcription
N01476  Assembly and trafficking of telomerase
N01477  Telomere elongation
Disease
H00003  Acute myeloid leukemia
H00018  Gastric cancer
H00038  Melanoma
H00048  Hepatocellular carcinoma
H00507  Dyskeratosis congenita
H00764  Chromosome 5p deletion syndrome
H01132  Aplastic anemia
H01299  Idiopathic pulmonary fibrosis
H01667  Medulloblastoma
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Drug target
Ateganosine: D13071
Imetelstat (DG03283): D09629 D09630<US>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    7015 (TERT)
  09162 Cancer: specific types
   05225 Hepatocellular carcinoma
    7015 (TERT)
   05226 Gastric cancer
    7015 (TERT)
  09172 Infectious disease: viral
   05166 Human T-cell leukemia virus 1 infection
    7015 (TERT)
   05165 Human papillomavirus infection
    7015 (TERT)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03032 DNA replication proteins [BR:hsa03032]
    7015 (TERT)
Enzymes [BR:hsa01000]
 2. Transferases
  2.7  Transferring phosphorus-containing groups
   2.7.7  Nucleotidyltransferases
    2.7.7.49  RNA-directed DNA polymerase
     7015 (TERT)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomerase complex (animals)
    7015 (TERT)
   Telomerase complex (fungi)
    7015 (TERT)
SSDB
Motif
Pfam: TERT_C Telomerase_RBD RVT_1
Other DBs
NCBI-GeneID: 7015
NCBI-ProteinID: NP_937983
OMIM: 187270
HGNC: 11730
Ensembl: ENSG00000164362
UniProt: O14746
Structure
LinkDB
Position
5:complement(1253167..1295068)
AA seq 1132 aa
MPRAPRCRAVRSLLRSHYREVLPLATFVRRLGPQGWRLVQRGDPAAFRALVAQCLVCVPW
DARPPPAAPSFRQVSCLKELVARVLQRLCERGAKNVLAFGFALLDGARGGPPEAFTTSVR
SYLPNTVTDALRGSGAWGLLLRRVGDDVLVHLLARCALFVLVAPSCAYQVCGPPLYQLGA
ATQARPPPHASGPRRRLGCERAWNHSVREAGVPLGLPAPGARRRGGSASRSLPLPKRPRR
GAAPEPERTPVGQGSWAHPGRTRGPSDRGFCVVSPARPAEEATSLEGALSGTRHSHPSVG
RQHHAGPPSTSRPPRPWDTPCPPVYAETKHFLYSSGDKEQLRPSFLLSSLRPSLTGARRL
VETIFLGSRPWMPGTPRRLPRLPQRYWQMRPLFLELLGNHAQCPYGVLLKTHCPLRAAVT
PAAGVCAREKPQGSVAAPEEEDTDPRRLVQLLRQHSSPWQVYGFVRACLRRLVPPGLWGS
RHNERRFLRNTKKFISLGKHAKLSLQELTWKMSVRDCAWLRRSPGVGCVPAAEHRLREEI
LAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRE
LSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKA
LFSVLNYERARRPGLLGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTI
PQDRLTEVIASIIKPQNTYCVRRYAVVQKAAHGHVRKAFKSHVSTLTDLQPYMRQFVAHL
QETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSYVQCQGIPQGSILSTL
LCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNL
RKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTF
NRGFKAGRNMRRKLFGVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLP
FHQQVWKNPTFFLRVISDTASLCYSILKAKNAGMSLGAKGAAGPLPSEAVQWLCHQAFLL
KLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAANPALPSDFKTILD
NT seq 3399 nt   +upstreamnt  +downstreamnt
atgccgcgcgctccccgctgccgagccgtgcgctccctgctgcgcagccactaccgcgag
gtgctgccgctggccacgttcgtgcggcgcctggggccccagggctggcggctggtgcag
cgcggggacccggcggctttccgcgcgctggtggcccagtgcctggtgtgcgtgccctgg
gacgcacggccgccccccgccgccccctccttccgccaggtgtcctgcctgaaggagctg
gtggcccgagtgctgcagaggctgtgcgagcgcggcgcgaagaacgtgctggccttcggc
ttcgcgctgctggacggggcccgcgggggcccccccgaggccttcaccaccagcgtgcgc
agctacctgcccaacacggtgaccgacgcactgcgggggagcggggcgtgggggctgctg
ctgcgccgcgtgggcgacgacgtgctggttcacctgctggcacgctgcgcgctctttgtg
ctggtggctcccagctgcgcctaccaggtgtgcgggccgccgctgtaccagctcggcgct
gccactcaggcccggcccccgccacacgctagtggaccccgaaggcgtctgggatgcgaa
cgggcctggaaccatagcgtcagggaggccggggtccccctgggcctgccagccccgggt
gcgaggaggcgcgggggcagtgccagccgaagtctgccgttgcccaagaggcccaggcgt
ggcgctgcccctgagccggagcggacgcccgttgggcaggggtcctgggcccacccgggc
aggacgcgtggaccgagtgaccgtggtttctgtgtggtgtcacctgccagacccgccgaa
gaagccacctctttggagggtgcgctctctggcacgcgccactcccacccatccgtgggc
cgccagcaccacgcgggccccccatccacatcgcggccaccacgtccctgggacacgcct
tgtcccccggtgtacgccgagaccaagcacttcctctactcctcaggcgacaaggagcag
ctgcggccctccttcctactcagctctctgaggcccagcctgactggcgctcggaggctc
gtggagaccatctttctgggttccaggccctggatgccagggactccccgcaggttgccc
cgcctgccccagcgctactggcaaatgcggcccctgtttctggagctgcttgggaaccac
gcgcagtgcccctacggggtgctcctcaagacgcactgcccgctgcgagctgcggtcacc
ccagcagccggtgtctgtgcccgggagaagccccagggctctgtggcggcccccgaggag
gaggacacagacccccgtcgcctggtgcagctgctccgccagcacagcagcccctggcag
gtgtacggcttcgtgcgggcctgcctgcgccggctggtgcccccaggcctctggggctcc
aggcacaacgaacgccgcttcctcaggaacaccaagaagttcatctccctggggaagcat
gccaagctctcgctgcaggagctgacgtggaagatgagcgtgcgggactgcgcttggctg
cgcaggagcccaggggttggctgtgttccggccgcagagcaccgtctgcgtgaggagatc
ctggccaagttcctgcactggctgatgagtgtgtacgtcgtcgagctgctcaggtctttc
ttttatgtcacggagaccacgtttcaaaagaacaggctctttttctaccggaagagtgtc
tggagcaagttgcaaagcattggaatcagacagcacttgaagagggtgcagctgcgggag
ctgtcggaagcagaggtcaggcagcatcgggaagccaggcccgccctgctgacgtccaga
ctccgcttcatccccaagcctgacgggctgcggccgattgtgaacatggactacgtcgtg
ggagccagaacgttccgcagagaaaagagggccgagcgtctcacctcgagggtgaaggca
ctgttcagcgtgctcaactacgagcgggcgcggcgccccggcctcctgggcgcctctgtg
ctgggcctggacgatatccacagggcctggcgcaccttcgtgctgcgtgtgcgggcccag
gacccgccgcctgagctgtactttgtcaaggtggatgtgacgggcgcgtacgacaccatc
ccccaggacaggctcacggaggtcatcgccagcatcatcaaaccccagaacacgtactgc
gtgcgtcggtatgccgtggtccagaaggccgcccatgggcacgtccgcaaggccttcaag
agccacgtctctaccttgacagacctccagccgtacatgcgacagttcgtggctcacctg
caggagaccagcccgctgagggatgccgtcgtcatcgagcagagctcctccctgaatgag
gccagcagtggcctcttcgacgtcttcctacgcttcatgtgccaccacgccgtgcgcatc
aggggcaagtcctacgtccagtgccaggggatcccgcagggctccatcctctccacgctg
ctctgcagcctgtgctacggcgacatggagaacaagctgtttgcggggattcggcgggac
gggctgctcctgcgtttggtggatgatttcttgttggtgacacctcacctcacccacgcg
aaaaccttcctcaggaccctggtccgaggtgtccctgagtatggctgcgtggtgaacttg
cggaagacagtggtgaacttccctgtagaagacgaggccctgggtggcacggcttttgtt
cagatgccggcccacggcctattcccctggtgcggcctgctgctggatacccggaccctg
gaggtgcagagcgactactccagctatgcccggacctccatcagagccagtctcaccttc
aaccgcggcttcaaggctgggaggaacatgcgtcgcaaactctttggggtcttgcggctg
aagtgtcacagcctgtttctggatttgcaggtgaacagcctccagacggtgtgcaccaac
atctacaagatcctcctgctgcaggcgtacaggtttcacgcatgtgtgctgcagctccca
tttcatcagcaagtttggaagaaccccacatttttcctgcgcgtcatctctgacacggcc
tccctctgctactccatcctgaaagccaagaacgcagggatgtcgctgggggccaagggc
gccgccggccctctgccctccgaggccgtgcagtggctgtgccaccaagcattcctgctc
aagctgactcgacaccgtgtcacctacgtgccactcctggggtcactcaggacagcccag
acgcagctgagtcggaagctcccggggacgacgctgactgccctggaggccgcagccaac
ccggcactgccctcagacttcaagaccatcctggactga

KEGG   Homo sapiens (human): 8607
Entry
8607              CDS       T01001                                 
Symbol
RUVBL1, ECP-54, ECP54, INO80H, NMP_238, NMP238, PONTIN, Pontin52, RVB1, TIH1, TIP49, TIP49A
Name
(RefSeq) RuvB like AAA ATPase 1
  KO
K04499  RuvB-like protein 1 [EC:5.6.2.4]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
hsa04310  Wnt signaling pathway
Network
nt06510  Telomere length regulation
  Element
N01476  Assembly and trafficking of telomerase
N01477  Telomere elongation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    8607 (RUVBL1)
 09130 Environmental Information Processing
  09132 Signal transduction
   04310 Wnt signaling pathway
    8607 (RUVBL1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    8607 (RUVBL1)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    8607 (RUVBL1)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.6  Isomerases altering macromolecular conformation
   5.6.2  Enzymes altering nucleic acid conformation
    5.6.2.4  DNA 3'-5' helicase
     8607 (RUVBL1)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HAT complexes
    TIP60 complex
     8607 (RUVBL1)
  Chromatin remodeling factors
   SRCAP complex
    8607 (RUVBL1)
   INO80 complex
    8607 (RUVBL1)
   INO80 complex (yeast)
    8607 (RUVBL1)
   SWR1 complex
    8607 (RUVBL1)
   ASTRA complex
    8607 (RUVBL1)
Cilium and associated proteins [BR:hsa03037]
 Motile cilia and associated proteins
  Dynein assembly factors
   8607 (RUVBL1)
SSDB
Motif
Pfam: TIP49 TIP49_C AAA RuvB_N AAA_22 AAA_16 AAA_5 AAA_19 AAA_25 Mg_chelatase bpMoxR Sigma54_activat AAA_18 Parvo_NS1 Cdc6_lid AAA_28 DnaB_C IstB_IS21 nSTAND3 Zeta_toxin TsaE ResIII AAA_7 PhoH ATPase NACHT AAA_11 NTPase_1 SLFN-g3_helicase RNA_helicase NPHP3_N AAA_33 DEAD
Other DBs
NCBI-GeneID: 8607
NCBI-ProteinID: NP_003698
OMIM: 603449
HGNC: 10474
Ensembl: ENSG00000175792
UniProt: Q9Y265 A0A384MTR5
Structure
LinkDB
Position
3:complement(128064785..128153914)
AA seq 456 aa
MKIEEVKSTTKTQRIASHSHVKGLGLDESGLAKQAASGLVGQENAREACGVIVELIKSKK
MAGRAVLLAGPPGTGKTALALAIAQELGSKVPFCPMVGSEVYSTEIKKTEVLMENFRRAI
GLRIKETKEVYEGEVTELTPCETENPMGGYGKTISHVIIGLKTAKGTKQLKLDPSIFESL
QKERVEAGDVIYIEANSGAVKRQGRCDTYATEFDLEAEEYVPLPKGDVHKKKEIIQDVTL
HDLDVANARPQGGQDILSMMGQLMKPKKTEITDKLRGEINKVVNKYIDQGIAELVPGVLF
VDEVHMLDIECFTYLHRALESSIAPIVIFASNRGNCVIRGTEDITSPHGIPLDLLDRVMI
IRTMLYTPQEMKQIIKIRAQTEGINISEEALNHLGEIGTKTTLRYSVQLLTPANLLAKIN
GKDSIEKEHVEEISELFYDAKSSAKILADQQDKYMK
NT seq 1371 nt   +upstreamnt  +downstreamnt
atgaagattgaggaggtgaagagcactacgaagacgcagcgcatcgcctcccacagccac
gtgaaagggctggggctggacgagagcggcttggccaagcaggcggcctcagggcttgtg
ggccaggagaacgcgcgagaggcatgtggcgtcatagtagaattaatcaaaagcaagaaa
atggctggaagagctgtcttgttggcaggacctcctggaactggcaagacagctctggct
ctggctattgctcaggagctgggtagtaaggtccccttctgcccaatggtggggagtgaa
gtttactcaactgagatcaagaagacagaggtgctgatggagaacttccgcagggccatt
gggctgcgaataaaggagaccaaggaagtttatgaaggtgaagtcacagagctaactccg
tgtgagacagagaatcccatgggaggatatggcaaaaccattagccatgtgatcatagga
ctcaaaacagccaaaggaaccaaacagttgaaactggaccccagcatttttgaaagtttg
cagaaagagcgagtagaagctggagatgtgatttacattgaagccaacagtggggccgtg
aagaggcagggcaggtgtgatacctatgccacagaattcgaccttgaagctgaagagtat
gtccccttgccaaaaggggatgtgcacaaaaagaaagaaatcatccaagatgtgaccttg
catgacttggatgtggctaatgcgcggccccaggggggacaagatatcctgtccatgatg
ggccagctaatgaagccaaagaagacagaaatcacagacaaacttcgaggggagattaat
aaggtggtgaacaagtacatcgaccagggcattgctgagctggtcccgggtgtgctgttt
gttgatgaggtccacatgctggacattgagtgcttcacctacctgcaccgcgccctggag
tcttctatcgctcccatcgtcatctttgcatccaaccgaggcaactgtgtcatcagaggc
actgaggacatcacatcccctcacggcatccctcttgaccttctggaccgagtgatgata
atccggaccatgctgtatactccacaggaaatgaaacagatcattaaaatccgtgcccag
acggaaggaatcaacatcagtgaggaggcactgaaccacctgggggagattggcaccaag
accacactgaggtactcagtgcagctgctgaccccggccaacttgcttgctaaaatcaac
gggaaggacagcattgagaaagagcatgtcgaagagatcagtgaacttttctatgatgcc
aagtcctccgccaaaatcctggctgaccagcaggataagtacatgaagtga

KEGG   Homo sapiens (human): 10856
Entry
10856             CDS       T01001                                 
Symbol
RUVBL2, CGI-46, ECP-51, ECP51, INO80J, REPTIN, RVB2, TAP54-beta, TIH2, TIP48, TIP49B
Name
(RefSeq) RuvB like AAA ATPase 2
  KO
K11338  RuvB-like protein 2 [EC:5.6.2.3]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03082  ATP-dependent chromatin remodeling
Network
nt06510  Telomere length regulation
  Element
N01476  Assembly and trafficking of telomerase
N01477  Telomere elongation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09126 Chromosome
   03082 ATP-dependent chromatin remodeling
    10856 (RUVBL2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    10856 (RUVBL2)
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    10856 (RUVBL2)
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
     10856 (RUVBL2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HAT complexes
    TIP60 complex
     10856 (RUVBL2)
  Chromatin remodeling factors
   SRCAP complex
    10856 (RUVBL2)
   INO80 complex
    10856 (RUVBL2)
   INO80 complex (yeast)
    10856 (RUVBL2)
   SWR1 complex
    10856 (RUVBL2)
   ASTRA complex
    10856 (RUVBL2)
Cilium and associated proteins [BR:hsa03037]
 Motile cilia and associated proteins
  Dynein assembly factors
   10856 (RUVBL2)
SSDB
Motif
Pfam: TIP49 TIP49_C AAA AAA_16 DnaB_C AAA_22 RuvB_N AAA_5 AAA_19 Mg_chelatase Sigma54_activat ATPase nSTAND3 Zeta_toxin MS_channel_2nd TiaS_TCKD AAA_25 SLFN-g3_helicase AAA_23 AAA_7 bpMoxR AAA_11 Cdc6_lid NACHT TsaE
Other DBs
NCBI-GeneID: 10856
NCBI-ProteinID: NP_006657
OMIM: 604788
HGNC: 10475
Ensembl: ENSG00000183207
UniProt: Q9Y230
Structure
LinkDB
Position
19:48993448..49015995
AA seq 463 aa
MATVTATTKVPEIRDVTRIERIGAHSHIRGLGLDDALEPRQASQGMVGQLAARRAAGVVL
EMIREGKIAGRAVLIAGQPGTGKTAIAMGMAQALGPDTPFTAIAGSEIFSLEMSKTEALT
QAFRRSIGVRIKEETEIIEGEVVEIQIDRPATGTGSKVGKLTLKTTEMETIYDLGTKMIE
SLTKDKVQAGDVITIDKATGKISKLGRSFTRARDYDAMGSQTKFVQCPDGELQKRKEVVH
TVSLHEIDVINSRTQGFLALFSGDTGEIKSEVREQINAKVAEWREEGKAEIIPGVLFIDE
VHMLDIESFSFLNRALESDMAPVLIMATNRGITRIRGTSYQSPHGIPIDLLDRLLIVSTT
PYSEKDTKQILRIRCEEEDVEMSEDAYTVLTRIGLETSLRYAIQLITAASLVCRKRKGTE
VQVDDIKRVYSLFLDESRSTQYMKEYQDAFLFNELKGETMDTS
NT seq 1392 nt   +upstreamnt  +downstreamnt
atggcaaccgttacagccacaaccaaagtcccggagatccgtgatgtaacaaggattgag
cgaatcggtgcccactcccacatccggggactggggctggacgatgccttggagcctcgg
caggcttcgcaaggcatggtgggtcagctggcggcacggcgggcggctggcgtggtgctg
gagatgatccgggaagggaagattgccggtcgggcagtccttattgctggccagccgggc
acggggaagacggccatcgccatgggcatggcgcaggccctgggccctgacacgccattc
acagccatcgccggcagtgaaatcttctccctggagatgagcaagaccgaggcgctgacg
caggccttccggcggtccatcggcgttcgcatcaaggaggagacggagatcatcgaaggg
gaggtggtggagatccagattgatcgaccagcaacagggacgggctccaaggtgggcaaa
ctgaccctcaagaccacagagatggagaccatctacgacctgggcaccaagatgattgag
tccctgaccaaggacaaggtccaggccggggacgtgatcaccatcgacaaggcgacgggc
aagatctccaagctgggccgctccttcacacgcgcccgcgactacgacgctatgggctcc
cagaccaagttcgtgcagtgcccagatggggagctccagaaacgcaaggaggtggtgcac
accgtgtccctgcacgagatcgacgtcatcaactctcgcacccagggcttcctggcgctc
ttctcaggtgacacaggggagatcaagtcagaagtccgtgagcagatcaatgccaaggtg
gctgagtggcgcgaggagggcaaggcggagatcatccctggagtgctgttcatcgacgag
gtccacatgctggacatcgagagcttctccttcctcaaccgggccctggagagtgacatg
gcgcctgtcctgatcatggccaccaaccgtggcatcacgcgaatccggggcaccagctac
cagagccctcacggcatccccatagacctgctggaccggctgcttatcgtctccaccacc
ccctacagcgagaaagacacgaagcagatcctccgcatccggtgcgaggaagaagatgtg
gagatgagtgaggacgcctacacggtgctgacccgcatcgggctggagacgtcactgcgc
tacgccatccagctcatcacagctgccagcttggtgtgccggaaacgcaagggtacagaa
gtgcaggtggatgacatcaagcgggtctactcactcttcctggacgagtcccgctccacg
cagtacatgaaggagtaccaggacgccttcctcttcaacgaactcaaaggcgagaccatg
gacacctcctga

KEGG   Homo sapiens (human): 1736
Entry
1736              CDS       T01001                                 
Symbol
DKC1, CBF5, CHINE1, DKC, DKCX, NAP57, NOLA4, XAP101
Name
(RefSeq) dyskerin pseudouridine synthase 1
  KO
K11131  H/ACA ribonucleoprotein complex subunit 4 [EC:5.4.99.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Network
nt06510  Telomere length regulation
  Element
N01476  Assembly and trafficking of telomerase
N01477  Telomere elongation
Disease
H00507  Dyskeratosis congenita
H00788  Hoyeraal-Hreidarsson syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03008 Ribosome biogenesis in eukaryotes
    1736 (DKC1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    1736 (DKC1)
   03032 DNA replication proteins [BR:hsa03032]
    1736 (DKC1)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Sno RNPs
   Box H/ACA snoRNPs
    1736 (DKC1)
 Prokaryotic type
    1736 (DKC1)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomerase complex (animals)
    Dyskerin complex
     1736 (DKC1)
SSDB
Motif
Pfam: DKCLD TruB_C_2 TruB_N PUA UPF0113 Pus10_C
Other DBs
NCBI-GeneID: 1736
NCBI-ProteinID: NP_001354
OMIM: 300126
HGNC: 2890
Ensembl: ENSG00000130826
UniProt: O60832
Structure
LinkDB
Position
X:154762864..154777689
AA seq 514 aa
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD
KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH
SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL
FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV
MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH
GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK
AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
NT seq 1545 nt   +upstreamnt  +downstreamnt
atggcggatgcggaagtaattattttgccaaagaaacataagaagaaaaaggagcggaag
tcattgccagaagaagatgtagccgaaatacaacacgctgaagaatttcttatcaaacct
gaatccaaagttgctaagttggacacgtctcagtggccccttttgctaaagaattttgat
aagctgaatgtaaggacaacacactatacacctcttgcatgtggttcaaatcctctgaag
agagagattggggactatatcaggacaggtttcattaatcttgacaagccctctaacccc
tcttcccatgaggtggtagcctggattcgacggatacttcgggtggagaagacagggcac
agtggtacgctggatcccaaggtgactggttgtttaatcgtgtgcatagaacgagccact
cgcttggtgaagtcacaacagagtgcaggcaaagagtatgtggggattgtccggctgcac
aatgctattgaaggggggacccagctttctagggccctagaaactctgacaggtgcctta
ttccagcgacccccacttattgctgcagtaaagaggcagctccgagtgaggaccatctac
gagagcaaaatgattgaatacgatcctgaaagaagattaggaatcttttgggtgagttgt
gaggctggcacctacattcggacattatgtgtgcaccttggtttgttattgggagttggt
ggtcagatgcaggagcttcggagggttcgttctggagtcatgagtgaaaaggaccacatg
gtgacaatgcatgatgtgcttgatgctcagtggctgtatgataaccacaaggatgagagt
tacctgcggcgagttgtttaccctttggaaaagctgttgacatctcataaacggctggtt
atgaaagacagtgcagtaaatgccatctgctatggggccaagattatgcttccaggtgtt
cttcgatatgaggacggcattgaggtcaatcaggagattgtggttatcaccaccaaagga
gaagcaatctgcatggctattgcattaatgaccacagcggtcatctctacctgcgaccat
ggtatagtagccaagatcaagagagtgatcatggagagagacacttaccctcggaagtgg
ggtttaggtccaaaggcaagtcagaagaagctgatgatcaagcagggccttctggacaag
catgggaagcccacagacagcacacctgccacctggaagcaggagtatgttgactacagt
gagtctgccaaaaaagaggtggttgctgaagtggtaaaagccccgcaggtagttgccgaa
gcagcaaaaactgcgaagcggaagcgagagagtgagagtgaaagtgacgagactcctcca
gcagctcctcagttgatcaagaaggaaaagaagaagagtaagaaggacaagaaggccaaa
gctggtctggagagcggggccgagcctggagatggggacagtgataccaccaagaagaag
aagaagaagaagaaagcaaaagaggtagaattggtttctgagtag

KEGG   Homo sapiens (human): 55505
Entry
55505             CDS       T01001                                 
Symbol
NOP10, CHINE2, DKCB1, NOLA3, NOP10P, PFBMFT9
Name
(RefSeq) NOP10 ribonucleoprotein
  KO
K11130  H/ACA ribonucleoprotein complex subunit 3
Organism
hsa  Homo sapiens (human)
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Network
nt06510  Telomere length regulation
  Element
N01476  Assembly and trafficking of telomerase
N01477  Telomere elongation
Disease
H00507  Dyskeratosis congenita
H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03008 Ribosome biogenesis in eukaryotes
    55505 (NOP10)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    55505 (NOP10)
   03032 DNA replication proteins [BR:hsa03032]
    55505 (NOP10)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Sno RNPs
   Box H/ACA snoRNPs
    55505 (NOP10)
 Prokaryotic type
    55505 (NOP10)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomerase complex (animals)
    Dyskerin complex
     55505 (NOP10)
SSDB
Motif
Pfam: Nop10p
Other DBs
NCBI-GeneID: 55505
NCBI-ProteinID: NP_061118
OMIM: 606471
HGNC: 14378
Ensembl: ENSG00000182117
UniProt: Q9NPE3
Structure
LinkDB
Position
15:complement(34341719..34343136)
AA seq 64 aa
MFLQYYLNEQGDRVYTLKKFDPMGQQTCSAHPARFSPDDKYSRHRITIKKRFKVLMTQQP
RPVL
NT seq 195 nt   +upstreamnt  +downstreamnt
atgtttctccagtattacctcaacgagcagggagatcgagtctatacgctgaagaaattt
gacccgatgggacaacagacctgctcagcccatcctgctcggttctccccagatgacaaa
tactctcgacaccgaatcaccatcaagaaacgcttcaaggtgctcatgacccagcaaccg
cgccctgtcctctga

KEGG   Homo sapiens (human): 55651
Entry
55651             CDS       T01001                                 
Symbol
NHP2, DKCB2, NHP2P, NOLA2
Name
(RefSeq) NHP2 ribonucleoprotein
  KO
K11129  H/ACA ribonucleoprotein complex subunit 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Network
nt06510  Telomere length regulation
  Element
N01476  Assembly and trafficking of telomerase
N01477  Telomere elongation
Disease
H00507  Dyskeratosis congenita
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03008 Ribosome biogenesis in eukaryotes
    55651 (NHP2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    55651 (NHP2)
   03032 DNA replication proteins [BR:hsa03032]
    55651 (NHP2)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Sno RNPs
   Box H/ACA snoRNPs
    55651 (NHP2)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomerase complex (animals)
    Dyskerin complex
     55651 (NHP2)
SSDB
Motif
Pfam: Ribosomal_L7Ae Ribosomal_L31e Phage_RpbA
Other DBs
NCBI-GeneID: 55651
NCBI-ProteinID: NP_060308
OMIM: 606470
HGNC: 14377
Ensembl: ENSG00000145912
UniProt: Q9NX24
Structure
LinkDB
Position
5:complement(178149463..178153885)
AA seq 153 aa
MTKIKADPDGPEAQAEACSGERTYQELLVNQNPIAQPLASRRLTRKLYKCIKKAVKQKQI
RRGVKEVQKFVNKGEKGIMVLAGDTLPIEVYCHLPVMCEDRNLPYVYIPSKTDLGAAAGS
KRPTCVIMVKPHEEYQEAYDECLEEVQSLPLPL
NT seq 462 nt   +upstreamnt  +downstreamnt
atgaccaaaataaaggcagatcccgacgggcccgaggctcaggcggaggcgtgttccggg
gagcgcacctaccaggagctgctggtcaaccagaaccccatcgcgcagcccctggcttct
cgccgcctcacgcggaagctctacaaatgcatcaagaaagcggtgaagcagaagcagatt
cggcgcggggtgaaagaggttcagaaatttgtcaacaaaggagaaaaagggatcatggtt
ttggcaggagacacactgcccattgaggtatactgccatctcccagtcatgtgtgaggac
cgaaatttgccctatgtctatatcccctctaagacggacctgggtgcagccgcaggctcc
aagcgccccacctgtgtgataatggtcaagccccatgaggagtaccaggaggcttacgat
gagtgcctggaggaggtgcagtccctgcccctacccctatga

KEGG   Homo sapiens (human): 54433
Entry
54433             CDS       T01001                                 
Symbol
GAR1, NOLA1
Name
(RefSeq) GAR1 ribonucleoprotein
  KO
K11128  H/ACA ribonucleoprotein complex subunit 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa03008  Ribosome biogenesis in eukaryotes
Network
nt06510  Telomere length regulation
  Element
N01476  Assembly and trafficking of telomerase
N01477  Telomere elongation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09120 Genetic Information Processing
  09122 Translation
   03008 Ribosome biogenesis in eukaryotes
    54433 (GAR1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03009 Ribosome biogenesis [BR:hsa03009]
    54433 (GAR1)
   03032 DNA replication proteins [BR:hsa03032]
    54433 (GAR1)
Ribosome biogenesis [BR:hsa03009]
 Eukaryotic type
  Sno RNPs
   Box H/ACA snoRNPs
    54433 (GAR1)
DNA replication proteins [BR:hsa03032]
 Eukaryotic type
  DNA Replication Termination Factors
   Telomerase complex (animals)
    Dyskerin complex
     54433 (GAR1)
SSDB
Motif
Pfam: Gar1
Other DBs
NCBI-GeneID: 54433
NCBI-ProteinID: NP_061856
OMIM: 606468
HGNC: 14264
Ensembl: ENSG00000109534
UniProt: Q9NY12
Structure
LinkDB
Position
4:109815510..109824737
AA seq 217 aa
MSFRGGGRGGFNRGGGGGGFNRGGSSNHFRGGGGGGGGGNFRGGGRGGFGRGGGRGGFNK
GQDQGPPERVVLLGEFLHPCEDDIVCKCTTDENKVPYFNAPVYLENKEQIGKVDEIFGQL
RDFYFSVKLSENMKASSFKKLQKFYIDPYKLLPLQRFLPRPPGEKGPPRGGGRGGRGGGR
GGGGRGGGRGGGFRGGRGGGGGGFRGGRGGGFRGRGH
NT seq 654 nt   +upstreamnt  +downstreamnt
atgtcttttcgaggcggaggtcgtggaggctttaatcgaggtggtggaggtggcggcttc
aaccgaggtggcagcagcaaccacttccgaggtggaggcggcggtggaggcggcggcaat
ttcagaggcggcggcaggggaggatttggacgagggggtggccgcggaggctttaacaaa
ggccaagaccaaggacctccagaacgtgtagtcttattaggagagttcctgcatccctgt
gaagatgacatagtttgtaaatgtaccacagatgaaaataaggtgccttatttcaatgct
cctgtttacttagaaaacaaagaacaaattggaaaagtggatgaaatatttggacaactc
agagatttttatttttcagttaagttgtcagaaaacatgaaggcttcatcctttaaaaaa
ctacagaagttttatatagacccatataagctgctgccactgcagaggtttttacctcga
cctccaggtgagaaaggacctccaagaggtggtggcaggggaggccgaggaggaggaaga
ggaggaggtggcagaggtggtggcagaggcggtggttttagaggtggaagaggaggtgga
ggtgggggcttcagaggaggaagaggtggtggtttcagagggagaggacattaa

DBGET integrated database retrieval system