InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DKC1

Summary

InnateDB Protein

IDBP-92075.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DKC1

Protein Name

dyskeratosis congenita 1, dyskerin

Synonyms

CBF5; DKC; DKCX; NAP57; NOLA4; XAP101;

Species

Homo sapiens

Ensembl Protein

ENSP00000358563

InnateDB Gene

IDBG-92073 (DKC1)

Protein Structure

UniProt Annotation

Function

Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).

Subcellular Localization

Isoform 1: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).Isoform 3: Cytoplasm.

Disease Associations

Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]: 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. {ECO:0000269PubMed:10364516, ECO:0000269PubMed:15304085, ECO:0000269PubMed:17417794, ECO:0000269PubMed:18802941, ECO:0000269PubMed:19879169, ECO:0000269PubMed:9590285}. Note=The disease is caused by mutations affecting the gene represented in this entry.Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]: 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. {ECO:0000269PubMed:10583221, ECO:0000269PubMed:12437656}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:10903840}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 59 experimentally validated interaction(s) in this database.

Experimentally validated
Total	59 [view]
Protein-Protein	58 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003720	telomerase activity
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0009982	pseudouridine synthase activity
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000723	telomere maintenance
GO:0001522	pseudouridine synthesis
GO:0006364	rRNA processing
GO:0006396	RNA processing
GO:0007004	telomere maintenance via telomerase
GO:0008283	cell proliferation
GO:0009451	RNA modification

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005697	telomerase holoenzyme complex
GO:0005730	nucleolus
GO:0005737	cytoplasm
GO:0015030	Cajal body

Protein Structure and Domains

PDB ID

InterPro

IPR002478 PUA domain
IPR002501 Pseudouridine synthase II
IPR004521 Uncharacterised domain CHP00451
IPR004802 tRNA pseudouridine synthase B family
IPR012960 Dyskerin-like
IPR015947 PUA-like domain
IPR020103 Pseudouridine synthase, catalytic domain

PFAM

PF01472
PF01509
PF08068

PRINTS

PIRSF

SMART

SM00359

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O60832