InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Dkc1

Summary

InnateDB Protein

IDBP-156753.6

Last Modified

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

Gene Symbol

Dkc1

Protein Name

dyskeratosis congenita 1, dyskerin homolog (human)

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000033776

InnateDB Gene

IDBG-156751 (Dkc1)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:12522253, ECO:0000269PubMed:15240872}.

Subcellular Localization

Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).

Disease Associations

Tissue Specificity

Ubiquitously expressed, with elevated levels in Purkinje cells, the olfactory bulb, and Leydig cells of the testis. {ECO:0000269PubMed:10903840}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
They are also associated with 35 interaction(s) predicted by orthology.

Experimentally validated
Total	10 [view]
Protein-Protein	10 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	35 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003720	telomerase activity
GO:0003723	RNA binding
GO:0004730	pseudouridylate synthase activity
GO:0005515	protein binding
GO:0009982	pseudouridine synthase activity
GO:0030519	snoRNP binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000154	rRNA modification
GO:0001522	pseudouridine synthesis
GO:0006278	RNA-dependent DNA replication
GO:0006396	RNA processing
GO:0009451	RNA modification

Cellular Component

GO:0005634	nucleus
GO:0005697	telomerase holoenzyme complex
GO:0005730	nucleolus
GO:0015030	Cajal body

Protein Structure and Domains

PDB ID

MGI:1861727

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

Q9ESX5