DKC1 (dyskeratosis congenita 1, dyskerin)
2002-11-01 Claude Viguié AffiliationService de Dermatologie, Hôpital Tarnier-Cochin, 89 rue dAssas, 75006 Paris, France
Identity
HGNC
LOCATION
Xq28
IMAGE
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
FUSION GENES
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 ID | Last Year | Title | Authors |
|---|---|---|---|
| 11054058 | 2000 | Dyskeratosis congenita in all its forms. | Dokal I et al |
| 10903840 | 2000 | Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. | Heiss NS et al |
| 10364516 | 1999 | X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene. | Knight SW et al |
| 11574891 | 2001 | The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. | Vulliamy T et al |
| 10438713 | 1999 | Dyskeratosis 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
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38376551 | 2024 | DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6. | 1 |
| 38376551 | 2024 | DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6. | 1 |
| 36876511 | 2023 | Evidence from a meta-analysis for the prognostic and clinicopathological importance of DKC1 in malignancies. | 1 |
| 37684150 | 2023 | AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1. | 1 |
| 37761906 | 2023 | New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond. | 0 |
| 38082360 | 2023 | A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker. | 0 |
| 36876511 | 2023 | Evidence from a meta-analysis for the prognostic and clinicopathological importance of DKC1 in malignancies. | 1 |
| 37684150 | 2023 | AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1. | 1 |
| 37761906 | 2023 | New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond. | 0 |
| 38082360 | 2023 | A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker. | 0 |
| 35996163 | 2022 | Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence. | 5 |
| 36018809 | 2022 | Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13. | 0 |
| 35996163 | 2022 | Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence. | 5 |
| 36018809 | 2022 | Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13. | 0 |
| 33461333 | 2021 | LncRNA 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
