KEGG   Homo sapiens (human): 1736Help
Entry
1736              CDS       T01001                                 

Gene name
DKC1, CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
Definition
(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
Module
hsa_M00425  H/ACA ribonucleoprotein complex
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)
Enzymes [BR:hsa01000]
 5. Isomerases
  5.4  Intramolecular transferases
   5.4.99  Transferring other groups
    5.4.99.-  
     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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: DKCLD TruB_N TruB_C_2 PUA UPF0113
Motif
Other DBs
NCBI-GeneID: 1736
NCBI-ProteinID: NP_001354
OMIM: 300126
HGNC: 2890
Ensembl: ENSG00000130826
Vega: OTTHUMG00000024242
Pharos: O60832(Tbio)
UniProt: O60832
Position
Xq28
AA seq 514 aa AA seqDB search
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD
KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH
SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL
FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV
MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH
GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK
AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
NT seq 1545 nt NT seq  +upstreamnt  +downstreamnt
atggcggatgcggaagtaattattttgccaaagaaacataagaagaaaaaggagcggaag
tcattgccagaagaagatgtagccgaaatacaacacgctgaagaatttcttatcaaacct
gaatccaaagttgctaagttggacacgtctcagtggccccttttgctaaagaattttgat
aagctgaatgtaaggacaacacactatacacctcttgcatgtggttcaaatcctctgaag
agagagattggggactatatcaggacaggtttcattaatcttgacaagccctctaacccc
tcttcccatgaggtggtagcctggattcgacggatacttcgggtggagaagacagggcac
agtggtactctggatcccaaggtgactggttgtttaatcgtgtgcatagaacgagccact
cgcttggtgaagtcacaacagagtgcaggcaaagagtatgtggggattgtccggctgcac
aatgctattgaaggggggacccagctttctagggccctagaaactctgacaggtgcctta
ttccagcgacccccacttattgctgcagtaaagaggcagctccgagtgaggaccatctac
gagagcaaaatgattgaatacgatcctgaaagaagattaggaatcttttgggtgagttgt
gaggctggcacctacattcggacattatgtgtgcaccttggtttgttattgggagttggt
ggtcagatgcaggagcttcggagggttcgttctggagtcatgagtgaaaaggaccacatg
gtgacaatgcatgatgtgcttgatgctcagtggctgtatgataaccacaaggatgagagt
tacctgcggcgagttgtttaccctttggaaaagctgttgacatctcataaacggctggtt
atgaaagacagtgcagtaaatgccatctgctatggggccaagattatgcttccaggtgtt
cttcgatatgaggacggcattgaggtcaatcaggagattgtggttatcaccaccaaagga
gaagcaatctgcatggctattgcattaatgaccacagcggtcatctctacctgcgaccat
ggtatagtagccaagatcaagagagtgatcatggagagagacacttaccctcggaagtgg
ggtttaggtccaaaggcaagtcagaagaagctgatgatcaagcagggccttctggacaag
catgggaagcccacagacagcacacctgccacctggaagcaggagtatgttgactacagt
gagtctgccaaaaaagaggtggttgctgaagtggtaaaagccccgcaggtagttgccgaa
gcagcaaaaactgcgaagcggaagcgagagagtgagagtgaaagtgacgagactcctcca
gcagctcctcagttgatcaagaaggaaaagaagaagagtaagaaggacaagaaggccaaa
gctggtctggagagcggggccgagcctggagatggggacagtgataccaccaagaagaag
aagaagaagaagaaagcaaaagaggtagaattggtttctgagtag

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