DKC1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_1904871Biological processpositive regulation of protein localization to Cajal body
GO_0000495Biological processbox H/ACA sno(s)RNA 3'-end processing
GO_0006396Biological processRNA processing
GO_1904874Biological processpositive regulation of telomerase RNA localization to Cajal body
GO_0031118Biological processrRNA pseudouridine synthesis
GO_1904851Biological processpositive regulation of establishment of protein localization to telomere
GO_1904872Biological processregulation of telomerase RNA localization to Cajal body
GO_1990481Biological processmRNA pseudouridine synthesis
GO_0007004Biological processtelomere maintenance via telomerase
GO_0090666Biological processscaRNA localization to Cajal body
GO_0051973Biological processpositive regulation of telomerase activity
GO_0000455Biological processenzyme-directed rRNA pseudouridine synthesis
GO_0090669Biological processtelomerase RNA stabilization
GO_0032212Biological processpositive regulation of telomere maintenance via telomerase
GO_0006364Biological processrRNA processing
GO_0031120Biological processsnRNA pseudouridine synthesis
GO_0005730Cellular componentnucleolus
GO_0005654Cellular componentnucleoplasm
GO_0031429Cellular componentbox H/ACA snoRNP complex
GO_0005697Cellular componenttelomerase holoenzyme complex
GO_0001650Cellular componentfibrillar center
GO_0090661Cellular componentbox H/ACA telomerase RNP complex
GO_0072589Cellular componentbox H/ACA scaRNP complex
GO_0005737Cellular componentcytoplasm
GO_0005634Cellular componentnucleus
GO_0034513Molecular functionbox H/ACA snoRNA binding
GO_0003720Molecular functiontelomerase activity
GO_0003723Molecular functionRNA binding
GO_0070034Molecular functiontelomerase RNA binding
GO_0009982Molecular functionpseudouridine synthase activity
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameDKC1
Protein nameH/ACA ribonucleoprotein complex subunit DKC1 (EC 5.4.99.-) (CBF5 homolog) (Dyskerin) (Nopp140-associated protein of 57 kDa) (Nucleolar protein NAP57) (Nucleolar protein family A member 4) (snoRNP protein DKC1)
Dyskerin pseudouridine synthase 1
Dyskeratosis congenita 1, dyskerin, isoform CRA_c (Dyskerin pseudouridine synthase 1)
SynonymsNOLA4
hCG_18117
DescriptionFUNCTION: [Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA . This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 . 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 . Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme . .; FUNCTION: [Isoform 3]: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression. .

AccessionsENST00000696575.1
O60832
A0A8V8TKY9
ENST00000696588.1
A0A8Q3WLE5
ENST00000696627.1
ENST00000696583.1
ENST00000696578.1
ENST00000696628.1
A0A8Q3SIS9
ENST00000696582.1
H7C2Q2
ENST00000696577.1
A0A8Q3WLG7
A0A8Q3WLE4
C9IYT0
ENST00000369550.10 [O60832-1]
A0A8Q3WLW8
ENST00000413910.6
A0A8Q3SIY6
ENST00000696581.1
ENST00000696580.1
A0A8Q3WLD1
ENST00000696587.1
A0A8Q3WLC8
A0A8Q3SIX2
ENST00000426673.6
A0A8Q3SJE8