DKC1
Function
Isoform 1
Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674, PubMed:32554502). 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.
Involvement in disease
Dyskeratosis congenita, X-linked
DKCX
A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
None
The disease is caused by variants affecting the gene represented in this entry. Reduced rRNA pseudouridine levels in cells from patients (PubMed:25219674).
Hoyeraal-Hreidarsson syndrome
HHS
A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1
CHINE1
An X-linked dominant disorder characterized by infantile onset of steroid-resistant nephrotic syndrome, cataracts, sensorineural deafness, and enterocolitis. Males are more severely affected than females, and death occurs in early childhood. Affected females develop early-onset hearing impairment, early-onset cataracts, but only rarely have nephrotic syndrome. They do not have enterocolitis.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the pseudouridine synthase TruB family.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Isoform 1
- Nucleus
- Nucleolus
- Nucleus
- Cajal body
- Isoform 3
- Cytoplasm
Alternative names
NOLA4, DKC1, H/ACA ribonucleoprotein complex subunit DKC1, CBF5 homolog, Dyskerin, Nopp140-associated protein of 57 kDa, Nucleolar protein NAP57, Nucleolar protein family A member 4, snoRNP protein DKC1