Protein Description

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

No databases found.

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