Tbio DKC1 H/ACA ribonucleoprotein complex subunit DKC1

Protein Summary

Description

Isoform 1: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534). Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression. This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Uniprot Accession IDs

• O60832
• F5BSB3
• O43845
• Q96G67
• Q9Y505

Gene Name

• DKC1

Ensembl ID

• ENST00000369550
• ENSP00000358563
• ENSG00000130826
• ENST00000620277
• ENSP00000478387

Symbol

• NOLA4
• DKC
• CBF5
• DKCX
• NAP57
• NOLA4
• XAP101

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
hub protein	1
drug perturbation	0.99
interacting protein	0.99
protein complex	0.99
co-expressed gene	0.98

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Centromere Dna-binding Protein / H/aca Ribonucleoprotein Complex Subunit Dkc1

DTO Classes

Protein / Nucleic Acid Binding / Dna Binding Protein / Centromere Dna-binding Protein / H/aca Ribonucleoprotein Complex Subunit 4

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 368.25   (req: < 5)

Gene RIFs: 79   (req: <= 3)

Antibodies: 380   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 368.25   (req: >= 5)

Gene RIFs: 79   (req: > 3)

Antibodies: 380   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 22

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0