DKC1 (dyskeratosis congenita 1, dyskerin)

2002-11-01   Claude Viguié  

Service de Dermatologie, Hôpital Tarnier-Cochin, 89 rue dAssas, 75006 Paris, France

Identity

HGNC
DKC1
LOCATION
Xq28
IMAGE
Atlas Image
IMAGE
Atlas Image
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
1736
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

Gene composed of 15 exons (exons 1 and 15 non coding) / 15kb length cDNA 2465 bp (open reading frame between nt 93 and 1637)

Proteins

Expression

widespread tissue expression.

Function

Multifunctional nucleolar protein which associates with H+ACA (hairpin-linge hairpin-tail) class of small nucleolar RNA as its catalytic sub-unit; implicated in centromere function; associated also with the telomerase RNA component; function in ribosome biosynthesis

Homology

highly conserved in eukaryotes: Nap57 (nucleolar associated protein) in the rat, Nop60B in drosophila, Cbf5p (centromere/microtubule binding protein) in yeast. Regional homologies with bacterial Trub proteins and Saccharomyces cerevisiae PUS4 protein.

Implicated in

Disease
Dyskeratosis congenita, X-linked recessive form
Hybrid gene
missense mutation by single-nucleotide substitution at position 1058 in exon 11 (A353V) detected in several different families. Sporadic other missense mutations were detected in exon 3, 4, 10, 12 and in intron 2. Rare deletions and no null mutations are observed.
Fusion protein
non functional protein. It is not presently known how the different mutations affect the protein activity and are responsible of the various phenotypes
Oncogenesis
myelodysplasia and leukemia following bone marrow failure and pancytopenia. Spinocellular carcinoma, other carcinomas of various localization.

Article Bibliography

Pubmed IDLast YearTitleAuthors
110540582000Dyskeratosis congenita in all its forms.Dokal I et al
109038402000Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.Heiss NS et al
103645161999X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.Knight SW et al
115748912001The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.Vulliamy T et al
104387131999Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.Vulliamy TJ et al

Other Information

Locus ID:

NCBI: 1736
MIM: 300126
HGNC: 2890
Ensembl: ENSG00000130826

Variants:

dbSNP: 1736
ClinVar: 1736
TCGA: ENSG00000130826
COSMIC: DKC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130826ENST00000369550O60832
ENSG00000130826ENST00000412124H7BZF2
ENSG00000130826ENST00000413910C9IYT0
ENSG00000130826ENST00000426673H7C2Q2
ENSG00000130826ENST00000437719H7C0M1
ENSG00000130826ENST00000452771H7C2Q9
ENSG00000130826ENST00000620277O60832

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Ribosome biogenesis in eukaryotesKEGGko03008
Ribosome biogenesis in eukaryotesKEGGhsa03008
H/ACA ribonucleoprotein complexKEGGhsa_M00425
H/ACA ribonucleoprotein complexKEGGM00425
Gene ExpressionREACTOMER-HSA-74160
Cell CycleREACTOMER-HSA-1640170
Chromosome MaintenanceREACTOMER-HSA-73886
Telomere MaintenanceREACTOMER-HSA-157579
Extension of TelomeresREACTOMER-HSA-180786
Telomere Extension By TelomeraseREACTOMER-HSA-171319
rRNA processingREACTOMER-HSA-72312
rRNA modification in the nucleus and cytosolREACTOMER-HSA-6790901
rRNA processing in the nucleus and cytosolREACTOMER-HSA-8868773

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383765512024DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6.1
383765512024DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6.1
368765112023Evidence from a meta-analysis for the prognostic and clinicopathological importance of DKC1 in malignancies.1
376841502023AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1.1
377619062023New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond.0
380823602023A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker.0
368765112023Evidence from a meta-analysis for the prognostic and clinicopathological importance of DKC1 in malignancies.1
376841502023AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1.1
377619062023New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond.0
380823602023A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker.0
359961632022Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence.5
360188092022Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.0
359961632022Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence.5
360188092022Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.0
334613332021LncRNA PCAT1 Interacts with DKC1 to Regulate Proliferation, Invasion and Apoptosis in NSCLC Cells via the VEGF/AKT/Bcl2/Caspase9 Pathway.15

Citation

Claude Viguié

DKC1 (dyskeratosis congenita 1, dyskerin)

Atlas Genet Cytogenet Oncol Haematol. 2002-11-01

Online version: http://atlasgeneticsoncology.org/gene/157/dkc1-(dyskeratosis-congenita-1-dyskerin)