Gene Symbol | DKC1 |
Entrez ID | 1736 |
Uniprot ID | O60832 |
Description | dyskeratosis congenita 1, dyskerin |
Chromosomal Location | chrX: 154,762,742-154,777,689 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0000495 |
box H/ACA snoRNA 3'-end processing |
Any process involved in forming the mature 3' end of a box H/ACA snoRNA molecule. |
IBA |
BP |
GO:0006364 |
rRNA processing |
Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
TAS |
BP |
GO:0006396 |
RNA processing |
Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
TAS |
BP |
GO:0007004 |
telomere maintenance via telomerase |
The maintenance of proper telomeric length by the addition of telomeric repeats by telomerase. |
IDA|TAS |
BP |
GO:0008283 |
cell proliferation |
The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
TAS |
BP |
GO:0031118 |
rRNA pseudouridine synthesis |
The intramolecular conversion of uridine to pseudouridine in an rRNA molecule. |
IBA|TAS |
BP |
GO:0031120 |
snRNA pseudouridine synthesis |
The intramolecular conversion of uridine to pseudouridine in an snRNA molecule. |
IBA |
BP |
GO:0032212 |
positive regulation of telomere maintenance via telomerase |
Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase. |
IEA |
BP |
GO:0051973 |
positive regulation of telomerase activity |
Any process that activates or increases the frequency, rate or extent of telomerase activity, the catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). |
IMP |
BP |
GO:0090669 |
telomerase RNA stabilization |
Prevention of degradation of telomerase RNA (TERC) molecules. |
IMP |
BP |
GO:1904851 |
positive regulation of establishment of protein localization to telomere |
Any process that activates or increases the frequency, rate or extent of establishment of protein localization to telomere. |
IMP |
BP |
GO:1904874 |
positive regulation of telomerase RNA localization to Cajal body |
Any process that activates or increases the frequency, rate or extent of telomerase RNA localization to Cajal body. |
IMP |
BP |
GO:1990481 |
mRNA pseudouridine synthesis |
The intramolecular conversion of uridine to pseudouridine in an mRNA molecule. |
IBA |
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
CC |
GO:0005654 |
nucleoplasm |
That part of the nuclear content other than the chromosomes or the nucleolus. |
IDA|TAS |
CC |
GO:0005697 |
telomerase holoenzyme complex |
Telomerase is a ribonucleoprotein enzyme complex, with a minimal catalytic core composed of a catalytic reverse transcriptase subunit and an RNA subunit that provides the template for telomeric DNA addition. In vivo, the holoenzyme complex often contains additional subunits. |
IDA|TAS |
CC |
GO:0005730 |
nucleolus |
A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
IDA |
CC |
GO:0005737 |
cytoplasm |
All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
IEA |
CC |
GO:0031429 |
box H/ACA snoRNP complex |
A box H/ACA RNP complex that is located in the nucleolus. |
IDA|TAS |
CC |
GO:0072589 |
box H/ACA scaRNP complex |
A box H/ACA RNP complex that is located in the Cajal body of the nucleoplasm. In higher eukaryotes, box H/ACA RNP located in Cajal bodies mediate pseudouridylation of spliceosomal snRNAs. |
TAS |
CC |
GO:0090661 |
box H/ACA telomerase RNP complex |
A box H/ACA ribonucleoprotein complex that contains the RNA component of vertebrate telomerase, the enzyme essential for the replication of chromosome termini in most eukaryotes. This ribonucleoprotein complex is a structural box H/ACA RNP, which does not have the catalytic pseudouridylation function shared by the majority of H/ACA RNPs present in the cell. |
IDA|TAS |
MF |
GO:0003720 |
telomerase activity |
Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1). Catalyzes extension of the 3'- end of a DNA strand by one deoxynucleotide at a time using an internal RNA template that encodes the telomeric repeat sequence. |
IDA |
MF |
GO:0003723 |
RNA binding |
Interacting selectively and non-covalently with an RNA molecule or a portion thereof. |
TAS |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0009982 |
pseudouridine synthase activity |
Catalysis of the reaction: RNA uridine = RNA pseudouridine. Conversion of uridine in an RNA molecule to pseudouridine by rotation of the C1'-N-1 glycosidic bond of uridine in RNA to a C1'-C5. |
IBA |
MF |
GO:0034513 |
box H/ACA snoRNA binding |
Interacting selectively and non-covalently with box H/ACA small nucleolar RNA. |
IPI |
MF |
GO:0044822 |
poly(A) RNA binding |
Interacting non-covalently with a poly(A) RNA, a RNA molecule which has a tail of adenine bases. |
IDA |
MF |
GO:0070034 |
telomerase RNA binding |
Interacting selectively and non-covalently with the telomerase RNA template. |
IPI |
Domain ID | Description |
---|---|
IPR002478 |
PUA domain |
IPR002501 |
Pseudouridine synthase II, N-terminal |
IPR004521 |
Uncharacterised domain CHP00451 |
IPR004802 |
tRNA pseudouridine synthase B family |
IPR012960 |
Dyskerin-like |
IPR015947 |
PUA-like domain |
IPR020103 |
Pseudouridine synthase, catalytic domain |
IPR032819 |
tRNA pseudouridylate synthase B, C-terminal |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa03008 |
Ribosome biogenesis in eukaryotes |
KEGG |
UMLS CUI | UMLS Term |
---|---|
C0265965 |
Dyskeratosis Congenita |
C1148551 |
X-Linked Dyskeratosis Congenita |
Tissue | Cell Type |
---|---|
adrenal gland |
glandular cells |
appendix |
glandular cells |
appendix |
lymphoid tissue |
bone marrow |
hematopoietic cells |
bronchus |
respiratory epithelial cells |
caudate |
glial cells |
caudate |
neuronal cells |
cerebellum |
cells in granular layer |
cerebellum |
cells in molecular layer |
cerebellum |
Purkinje cells |
cerebral cortex |
glial cells |
cerebral cortex |
neuronal cells |
cervix, uterine |
glandular cells |
cervix, uterine |
squamous epithelial cells |
colon |
glandular cells |
duodenum |
glandular cells |
endometrium |
cells in endometrial stroma |
endometrium |
glandular cells |
epididymis |
glandular cells |
esophagus |
squamous epithelial cells |
fallopian tube |
glandular cells |
gallbladder |
glandular cells |
heart muscle |
myocytes |
hippocampus |
glial cells |
hippocampus |
neuronal cells |
kidney |
cells in glomeruli |
kidney |
cells in tubules |
liver |
bile duct cells |
liver |
hepatocytes |
lung |
macrophages |
lung |
pneumocytes |
lymph node |
germinal center cells |
lymph node |
non-germinal center cells |
nasopharynx |
respiratory epithelial cells |
oral mucosa |
squamous epithelial cells |
ovary |
ovarian stroma cells |
pancreas |
exocrine glandular cells |
pancreas |
islets of Langerhans |
parathyroid gland |
glandular cells |
placenta |
decidual cells |
prostate |
glandular cells |
rectum |
glandular cells |
salivary gland |
glandular cells |
seminal vesicle |
glandular cells |
skin |
keratinocytes |
skin |
Langerhans |
skin |
melanocytes |
skin |
epidermal cells |
small intestine |
glandular cells |
spleen |
cells in red pulp |
spleen |
cells in white pulp |
stomach |
glandular cells |
testis |
cells in seminiferous ducts |
thyroid gland |
glandular cells |
tonsil |
germinal center cells |
tonsil |
non-germinal center cells |
urinary bladder |
urothelial cells |
vagina |
squamous epithelial cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
SRP14 |
6727 |
P37108 |
0.49 |
UQCRC2 |
7385 |
P22695 |
0.49 |
POLR1C |
9533 |
O15160 |
0.49 |
PTGES3 |
10728 |
Q15185 |
0.49 |
GTPBP4 |
23560 |
Q9BZE4 |
0.49 |
GNL3 |
26354 |
Q9BVP2 |
0.49 |
NMD3 |
51068 |
Q96D46 |
0.49 |
DDX56 |
54606 |
Q9NY93 |
0.49 |
RBM28 |
55131 |
Q9NW13 |
0.49 |
BCCIP |
56647 |
Q9P287 |
0.49 |
LSM2 |
57819 |
Q9Y333 |
0.49 |
RPF2 |
84154 |
Q9H7B2 |
0.49 |
NIFK |
84365 |
Q9BYG3 |
0.49 |
RPLP0P6 |
220717 |
Q8NHW5 |
0.49 |
RPSA |
3921 |
P08865 |
0.56 |
RPS4X |
6191 |
P62701 |
0.56 |
EIF5B |
9669 |
O60841 |
0.56 |
NOP56 |
10528 |
O00567 |
0.56 |
TBL3 |
10607 |
Q12788 |
0.56 |
NOC2L |
26155 |
Q9Y3T9 |
0.56 |
GNL2 |
29889 |
Q13823 |
0.56 |
NOC4L |
79050 |
Q9BVI4 |
0.56 |
WDR36 |
134430 |
Q8NI36 |
0.56 |
EEF1G |
1937 |
P26641 |
0.63 |
SSR1 |
6745 |
P43307 |
0.63 |
EIF3F |
8665 |
O00303 |
0.63 |
LYPLA2 |
11313 |
O95372 |
0.63 |
DCAF4 |
26094 |
Q8WV16 |
0.63 |
NOP58 |
51602 |
Q9Y2X3 |
0.65 |
CSNK2A1 |
1457 |
P68400 |
0.70 |
DKC1 |
1736 |
O60832 |
0.70 |
NOLC1 |
9221 |
Q14978 |
0.70 |
TERC |
7012 |
N/A |
0.73 |
FBL |
2091 |
P22087 |
0.79 |
TERT |
7015 |
O14746 |
0.82 |
NOP10 |
55505 |
Q9NPE3 |
0.83 |
SHQ1 |
55164 |
Q6PI26 |
0.85 |
WRAP53 |
55135 |
Q9BUR4 |
0.89 |
NHP2 |
55651 |
Q9NX24 |
0.89 |
GAR1 |
54433 |
Q9NY12 |
0.94 |
ENDOG |
2021 |
Q14249 |
0.49 |
NASP |
4678 |
P49321 |
0.49 |
SNU13 |
4809 |
P55769 |
0.49 |
UTP14A |
10813 |
Q9BVJ6 |
0.49 |
DIMT1 |
27292 |
Q9UNQ2 |
0.49 |
DDX24 |
57062 |
Q9GZR7 |
0.49 |
FTSJ3 |
117246 |
Q8IY81 |
0.49 |
DHX15 |
1665 |
O43143 |
0.56 |
NOP2 |
4839 |
P46087 |
0.56 |
DDX18 |
8886 |
Q9NVP1 |
0.56 |
PUM3 |
9933 |
Q15397 |
0.56 |
ABCF2 |
10061 |
Q9UG63 |
0.56 |
MPHOSPH10 |
10199 |
O00566 |
0.56 |
KRR1 |
11103 |
Q13601 |
0.56 |
DDX27 |
55661 |
Q96GQ7 |
0.56 |
DDX31 |
64794 |
Q9H8H2 |
0.56 |
BMI1 |
648 |
P35226 |
0.63 |
SFN |
2810 |
P31947 |
0.63 |
HIST1H1A |
3024 |
Q02539 |
0.63 |
JUN |
3725 |
P05412 |
0.63 |
MCM7 |
4176 |
P33993 |
0.63 |
MNDA |
4332 |
P41218 |
0.63 |
MOV10 |
4343 |
Q9HCE1 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
MAPK6 |
5597 |
Q16659 |
0.63 |
RNF2 |
6045 |
Q99496 |
0.63 |
RPL8 |
6132 |
P62917 |
0.63 |
RPS8 |
6202 |
P62241 |
0.63 |
SHMT2 |
6472 |
P34897 |
0.63 |
TERF2 |
7014 |
Q15554 |
0.63 |
XPO1 |
7514 |
O14980 |
0.63 |
YWHAZ |
7534 |
P63104 |
0.63 |
EED |
8726 |
O75530 |
0.63 |
RPL14 |
9045 |
P50914 |
0.63 |
KIAA0101 |
9768 |
Q15004 |
0.63 |
CUL7 |
9820 |
Q14999 |
0.63 |
NXF1 |
10482 |
Q9UBU9 |
0.63 |
GABARAP |
11337 |
O95166 |
0.63 |
PAXIP1 |
22976 |
Q6ZW49 |
0.63 |
ZC3H3 |
23144 |
Q8IXZ2 |
0.63 |
FBXW11 |
23291 |
Q9UKB1 |
0.63 |
OBSL1 |
23363 |
O75147 |
0.63 |
SUZ12 |
23512 |
Q15022 |
0.63 |
WWOX |
51741 |
Q9NZC7 |
0.63 |
LYAR |
55646 |
Q9NX58 |
0.63 |
PRR11 |
55771 |
Q96HE9 |
0.63 |
CAND1 |
55832 |
Q86VP6 |
0.63 |
NOL12 |
79159 |
Q9UGY1 |
0.63 |
HMBOX1 |
79618 |
Q6NT76 |
0.63 |
LIN28A |
79727 |
Q9H9Z2 |
0.63 |
ESR1 |
2099 |
P03372 |
0.67 |
ERG |
2078 |
P11308 |
0.68 |
ABCE1 |
6059 |
P61221 |
0.70 |
ARRB1 |
408 |
P49407 |
0.72 |
ARRB2 |
409 |
P32121 |
0.72 |
HNRNPD |
3184 |
Q14103 |
0.72 |
MPP1 |
4354 |
Q00013 |
0.72 |
SYNCRIP |
10492 |
O60506 |
0.72 |
EPB41L3 |
23136 |
Q9Y2J2 |
0.72 |
HDAC11 |
79885 |
Q96DB2 |
0.72 |
WDR48 |
57599 |
Q8TAF3 |
0.76 |
IFI16 |
3428 |
Q16666 |
0.82 |
NAF1 |
92345 |
Q96HR8 |
0.89 |
RUVBL2 |
10856 |
Q9Y230 |
0.94 |
RUVBL1 |
8607 |
Q9Y265 |
0.95 |