DKC1
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Homo sapiens |
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DKC1 is differentially expressed in 344 experiments: 145 organism parts: bone marrow, liver, ... (143 more);, 267 disease states: normal, colon carcinoma, ... (265 more);, 106 cell types 424 cell lines 41 compound treatments and 85 other conditions. |
| Synonyms |
dyskerin, XAP101, NAP57, DKC, NOLA4 |
| Orthologs |
Dkc1
(Mus musculus)
CBF5
(Saccharomyces cerevisiae)
DKC1
(Gallus gallus)
dkc1
(Danio rerio)
A7YWH5_BOVIN
(Bos taurus)
A8DRX9_CIOIN
(Ciona intestinalis)
Nop60B
(Drosophila melanogaster)
B0BMM6_XENTR
(Xenopus laevis)
ENSCAFG00000009311
(Canis familiaris)
XM_549382.2
(Canis familiaris)
(Compare orthologs)
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| Gene Ontology Term |
rRNA processing, telomere maintenance, pseudouridine synthase activity, isomerase activity, protein binding, Cajal body, cell proliferation, RNA processing, pseudouridine synthesis, nucleus, nucleoplasm, RNA binding, nucleolus, telomere maintenance via telomerase, telomerase activity, telomerase holoenzyme complex |
| Gene Ontology ID |
GO:0008283, GO:0009982, GO:0003723, GO:0015030, GO:0016853, GO:0005515, GO:0005730, GO:0005634, GO:0005654, GO:0000723, GO:0006364, GO:0006396, GO:0001522, GO:0003720, GO:0007004, GO:0005697 |
| InterPro ID |
IPR002478, IPR002501, IPR012960, IPR004521, IPR004802 |
| InterPro Term |
PUA, Dyskerin-like, Pseudouridine_synthase-related, PsdUridine_synth, Uncharacterised_CHP00451 |
| Ensembl Family Description |
H/ACA RIBONUCLEOPROTEIN COMPLEX SUBUNIT 4 EC_5.4.99.- |
| Ensembl Family |
ENSFM00250000004592 |
| EMBL-Bank ID |
AF067019, AF067018, AF067017, AF067011, AF067012, AF067010, AF067015, AF067016, AF067013, AF067014, AF067008, AF067009, AF067020, AF067022, AF067021, AF067023, BC009928, AC109993, AJ224481, BC010015, U59151, AJ010396, AJ010395 |
| Ensembl Gene ID |
ENSG00000130826 |
| UniProt Accession |
A8MUT5, C9IYT0, O60832 |
| RefSeq ID |
NR_002984, NP_001354, NM_001363, NM_001142463, NP_001135935 |
| Ensembl Protein ID |
ENSP00000407325, ENSP00000407253, ENSP00000400542, ENSP00000389304, ENSP00000358563, ENSP00000395693 |
| Entrez Gene ID |
1736 |
| HGNC Symbol |
DKC1 |
| UniGene ID |
Hs.4747 |
| Ensembl Transcript ID |
ENST00000426673, ENST00000452771, ENST00000475966, ENST00000473552, ENST00000369550, ENST00000492372, ENST00000412124, ENST00000413910, ENST00000437719, ENST00000481062, ENST00000484317, ENST00000475423 |
| Gene-Disease Assocation |
HOYERAAL-HREIDARSSON SYNDROME; HHS, DYSKERATOSIS CONGENITA, X-LINKED; DKCX |
| Description |
dyskeratosis congenita 1, dyskerin [Source:HGNC Symbol;Acc:2890] |
| Design Element |
ENST00000412124, 201479_at, ENST00000369550, g2737893_3p_a_at, 216212_s_at, ENST00000437719, ENST00000413910, g4503336_3p_at, ENST00000481062, ENST00000426673, Hs.4747.1.S1_3p_a_at, 34829_at, ENST00000473552, ENST00000452771, ENST00000475966, 201478_s_at, ENST00000475423, ENST00000492372, ENST00000484317 |
| Search EB-eye |
ENSG00000130826
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