DKC1
entrez
1736
canonical
uniprot
O60832
canonical
ensembl
ENSG00000130826
resolver
ensp
ENSP00000358563
resolver
ensp
ENSP00000512730
resolver
enst
ENST00000696575
resolver
genesymbol
DKC1
resolver
genesymbol_syn
NOLA4
resolver
hgnc
HGNC:2890
resolver
uniprot
A0A8Q3SIY6
resolver
uniprot
F5BSB3
resolver
uniprot
O43845
resolver
uniprot
Q96G67
resolver
uniprot
Q9Y505
resolver
uniprot_entry
A0A8Q3SIY6_HUMAN
resolver
uniprot_entry
DKC1_HUMAN
resolver
uniprot_sec
F5BSB3
resolver
uniprot_sec
O43845
resolver
uniprot_sec
Q96G67
resolver
uniprot_sec
Q9Y505
resolver
amino_acid_sequence
MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
uniprot
proteins
disease_involvement
DISEASE: Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]: A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269|PubMed:10364516, ECO:0000269|PubMed:15304085, ECO:0000269|PubMed:17417794, ECO:0000269|PubMed:18802941, ECO:0000269|PubMed:19734544, ECO:0000269|PubMed:19879169, ECO:0000269|PubMed:21602826, ECO:0000269|PubMed:25219674, ECO:0000269|PubMed:9590285}. Note=The disease is caused by variants affecting the gene represented in this entry. Reduced rRNA pseudouridine levels in cells from patients (PubMed:25219674). {ECO:0000269|PubMed:25219674}.; DISEASE: Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]: A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency. {ECO:0000269|PubMed:10583221, ECO:0000269|PubMed:12437656, ECO:0000269|PubMed:19734544, ECO:0000269|PubMed:24914498}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 (CHINE1) [MIM:301108]: An X-linked dominant disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. Males are more severely affected than females, and death occurs in early childhood. Affected females develop early-onset hearing impairment, early-onset cataracts, but only rarely have nephrotic syndrome. They do not have enterocolitis. {ECO:0000269|PubMed:32554502}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.99.-
uniprot
proteins
function
FUNCTION: [Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674, PubMed:32554502). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534). {ECO:0000269|PubMed:19179534, ECO:0000269|PubMed:25219674, ECO:0000269|PubMed:32554502}.; FUNCTION: [Isoform 3]: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression. {ECO:0000269|PubMed:21820037}.
uniprot
proteins
mass_dalton
57674
uniprot
proteins
mutagenesis
MUTAGEN 353; /note="A->R: Increases interaction with SHQ1."; /evidence="ECO:0000269|PubMed:19734544
uniprot
proteins
protein_family
Pseudouridine synthase TruB family
uniprot
proteins
pubmed
10364516
uniprot
proteins
pubmed
10556300
uniprot
proteins
pubmed
10583221
uniprot
proteins
pubmed
10591218
uniprot
proteins
pubmed
10903840
uniprot
proteins
pubmed
11074001
uniprot
proteins
pubmed
12429849
uniprot
proteins
pubmed
12437656
uniprot
proteins
pubmed
15044956
uniprot
proteins
pubmed
15304085
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
16601202
uniprot
proteins
pubmed
16618814
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17417794
uniprot
proteins
pubmed
17487921
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18802941
uniprot
proteins
pubmed
19179534
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19383767
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19734544
uniprot
proteins
pubmed
19879169
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20351177
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21602826
uniprot
proteins
pubmed
21820037
uniprot
proteins
pubmed
21846770
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23685356
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24914498
uniprot
proteins
pubmed
25114211
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25219674
uniprot
proteins
pubmed
25755297
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29695869
uniprot
proteins
pubmed
32554502
uniprot
proteins
pubmed
9590285
uniprot
proteins
pubmed
9888995
uniprot
proteins
sequence_length
514
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Nucleus, nucleolus {ECO:0000269|PubMed:10556300, ECO:0000269|PubMed:10591218, ECO:0000269|PubMed:12429849}. Nucleus, Cajal body {ECO:0000250|UniProtKB:P40615}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:21820037}.
uniprot
proteins