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
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

  All links  
Ontology (3)   
   KEGG BRITE (3)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (3)   
   KEGG NETWORK (3)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (30)   
   KEGG ORTHOLOGY (1)   
   RefGene (11)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (13)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (38)   
   RefSeq(nuc) (6)   
   GenBank (16)   
   EMBL (16)   
3D Structure (3)   
   PDB (3)   
Protein domain (6)   
   Pfam (6)   
All databases (95)   

Download RDF
DBGET integrated database retrieval system