Homo sapiens (human): 1736
Help
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
DKCLD
TruB_C_2
TruB_N
PUA
UPF0113
Pus10_C
Motif
Other DBs
NCBI-GeneID:
1736
NCBI-ProteinID:
NP_001354
OMIM:
300126
HGNC:
2890
Ensembl:
ENSG00000130826
UniProt:
O60832
Structure
PDB
PDBj
LinkDB
All DBs
Position
X:154762864..154777689
Genome browser
AA seq
514 aa
AA seq
DB search
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD
KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH
SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL
FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV
MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH
GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK
AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
NT seq
1545 nt
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system
