full name
dyskerin pseudouridine synthase 1

synonyms
CBF5, DKC, DKCX, NAP57, NOLA4, XAP101, DKC1, ENSG00000130826

HGNC
HGNC:2890

Entrez Gene
Gene:1736

ENSEMBL
ENSG00000130826
ENSG00000268226

location
chr: X
start: 153991031
stop: 154005964
strand: +

OMIM
OMIM:300126: DKC1 (X-linked recessive inheritance)
OMIM:305000: Dyskeratosis congenita, X-linked

transcripts
ENST00000369550.5

pathways
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Chromosome Maintenance [NCBI:1269853] [REACTOME:R-HSA-73886]
Extension of Telomeres [NCBI:1269857] [REACTOME:R-HSA-180786] [PUBMED:15189140]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Regulation of Telomerase [NCBI:137987] [Pathway Interaction Database:telomerasepathway] [PUBMED:12037663] [PUBMED:11191110] [PUBMED:15381700] [PUBMED:10637317] [PUBMED:15314656] [PUBMED:10601322] [PUBMED:12545159] [PUBMED:11110707] [PUBMED:15371341] [PUBMED:12681489] [PUBMED:15824061] [PUBMED:15048073] [PUBMED:10850490] [PUBMED:16730176] [PUBMED:12181313] [PUBMED:16890531] [PUBMED:9837921] [PUBMED:10224060] [PUBMED:15331176] [PUBMED:16522649] [PUBMED:9822378] [PUBMED:15316005] [PUBMED:12699629] [PUBMED:16843438] [PUBMED:12151407] [PUBMED:12135483] [PUBMED:15655249] [PUBMED:10888888] [PUBMED:16765199] [PUBMED:16869756] [PUBMED:10837221] [PUBMED:16135795] [PUBMED:11074006] [PUBMED:11191109] [PUBMED:14712220] [PUBMED:16508638] [PUBMED:10471503] [PUBMED:11854288] [PUBMED:16785237] [PUBMED:9130722] [PUBMED:12956959] [PUBMED:15710386] [PUBMED:12586360] [PUBMED:12377759] [PUBMED:11433024] [PUBMED:15843522] [PUBMED:14749375] [PUBMED:11274138] [PUBMED:12676087] [PUBMED:16166375] [PUBMED:15371412]
Ribosome biogenesis in eukaryotes [NCBI:199378] [KEGG:hsa03008] [PUBMED:19879902] [PUBMED:19850913] [PUBMED:15120992] [PUBMED:17515605] [PUBMED:20174677]
Telomere Extension By Telomerase [NCBI:1269858] [REACTOME:R-HSA-171319] [PUBMED:14685173] [PUBMED:15189140]
Telomere Maintenance [NCBI:1269856] [REACTOME:R-HSA-157579] [PUBMED:16166375] [PUBMED:4507727] [PUBMED:14685173] [PUBMED:642006] [PUBMED:15189140] [PUBMED:3907856] [PUBMED:2463488] [PUBMED:4754905]
rRNA modification in the nucleus and cytosol [NCBI:1383087] [REACTOME:R-HSA-6790901] [PUBMED:25590339] [PUBMED:15193314] [PUBMED:20347423] [PUBMED:25775268] [PUBMED:21956940] [PUBMED:24490730] [PUBMED:19917616] [PUBMED:25176256] [PUBMED:3418702] [PUBMED:26410597] [PUBMED:22122054] [PUBMED:23391857] [PUBMED:8674114] [PUBMED:12114023] [PUBMED:17894445] [PUBMED:24121435] [PUBMED:412496] [PUBMED:9211966] [PUBMED:22065625] [PUBMED:24369424]
rRNA processing [NCBI:1383085] [REACTOME:R-HSA-72312] [PUBMED:20174677] [PUBMED:21956940] [PUBMED:25346433] [PUBMED:25590339] [PUBMED:15193314] [PUBMED:11862453] [PUBMED:19917616] [PUBMED:24490730]
rRNA processing in the nucleus and cytosol [NCBI:1427846] [REACTOME:R-HSA-8868773] [PUBMED:24490730] [PUBMED:21956940] [PUBMED:25346433]