DKC1 Products

Antibodies
DKC1 Antibody
DKC1 Antibody
NBP1-85156
Species: Hu, Mouse
Applications: WB, ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
DKC1 Antibody
DKC1 Antibody
H00001736-B01P
Species: Hu
Applications: WB, ELISA, ICC/IF, IHC, IHC-P
Host: Mouse Polyclonal
DKC1 Antibody
DKC1 Antibody
NBP1-85155
Species: Hu, Mouse
Applications: ICC/IF, IHC, IHC-P
Host: Rabbit Polyclonal
Lysates
DKC1 Overexpression Lysate (D ...
DKC1 Overexpression Lysate (Denatu...
H00001736-T01
Species: Hu
Applications: WB
DKC1 Overexpression Lysate (N ...
DKC1 Overexpression Lysate (Native)
NBP2-09647
Applications: WB
DKC1 Overexpression Lysate (N ...
DKC1 Overexpression Lysate (Native)
NBL1-09897
Applications: WB
Proteins
DKC1 Recombinant Protein
DKC1 Recombinant Protein
H00001736-P01
Species: Hu
Applications: WB, ELISA, PA
DKC1 Partial Recombinant Prot ...
DKC1 Partial Recombinant Protein
H00001736-Q01
Species: Hu
Applications: WB, ELISA, PA
DKC1 Recombinant Protein Anti ...
DKC1 Recombinant Protein Antigen
NBP1-85155PEP
Species: Hu
Applications: AC
RNAi
DKC1 RNAi
DKC1 RNAi
H00001736-R01
Species: Hu

Description

DKC1 is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq]

Bioinformatics

Entrez Human
Mouse
Rat
Uniprot Human
Human
Human
Human
Human
Human
Product By Gene ID 1736
Alternate Names
  • EC 5.4.99
  • snoRNP protein DKC1
  • EC 5.4.99.-
  • CBF5 homolog
  • Dyskerin
  • Nucleolar protein NAP57
  • H/ACA ribonucleoprotein complex subunit 4
  • Nucleolar protein family A member 4
  • cbf5p homolog
  • Nopp140-associated protein of 57 kDa
  • FLJ97620
  • XAP101
  • CBF5
  • NAP57
  • NOLA4dyskerin
  • DKC
  • dyskeratosis congenita 1, dyskerin

PTMs for DKC1

Learn more about PTMs related to DKC1.

Methylation
Phosphorylation
Sumoylation
Reduction
Cleavage
Palmitoylation

Bioinformatics Tool for DKC1

Discover related pathways, diseases and genes to DKC1. Need help? Read the Bioinformatics Tool Guide for instructions on using this tool.
 
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