Protein: H/ACA ribonucleoprotein complex subunit DKC1 (EC 5.4.99.-) (CBF5 homolog) (Dyskerin) (Nopp140-associated protein of 57 kDa) (Nucleolar protein NAP57) (Nucleolar protein family A member 4) (snoRNP protein DKC1) (O60832)
Organism: Homo sapiens (Human)
Function: 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. Required for ribosome biogenesis and telomere maintenance. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
Subcellular location: [Isoform 1]: Nucleus, nucleolus {ECO:0000269|PubMed:10556300, ECO:0000269|PubMed:10591218, ECO:0000269|PubMed:12429849}. Nucleus, Cajal body {ECO:0000250|UniProtKB:P40615}.; SUBCELLULAR LOCATION: [Isoform 3]: Cytoplasm {ECO:0000269|PubMed:21820037}.
Sequence: MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLVMKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE
InterPro domains: - IPR004802: tRNA pseudouridine synthase B family (family) [12-509]
- IPR020103: Pseudouridine synthase, catalytic domain superfamily (homologous_superfamily) [49-294]
- IPR032819: tRNA pseudouridylate synthase B, C-terminal (domain) [227-293]
- IPR004521: Uncharacterised domain CHP00451 (domain) [285-366]
- IPR036974: PUA domain superfamily (homologous_superfamily) [49-380]
- IPR012960: Dyskerin-like (domain) [48-106]
- IPR002501: Pseudouridine synthase II, N-terminal (domain) [110-226]
- IPR002478: PUA domain (domain) [297-371]
- IPR015947: PUA-like superfamily (homologous_superfamily) [296-377]
Interaction partners: - H/ACA ribonucleoprotein complex subunit 2
- Telomerase reverse transcriptase
- H/ACA ribonucleoprotein complex subunit 3
- H/ACA ribonucleoprotein complex non-core subunit NAF1
- Telomerase Cajal body protein 1
- Nucleolar protein 58
- Protein SHQ1 homolog
- H/ACA ribonucleoprotein complex subunit 1
- Nucleolar protein 56
- rRNA 2'-O-methyltransferase fibrillarin
Gene Ontology annotations:
Molecular Function (MF): GO:0003674 (molecular function), GO:0005488 (binding), GO:0097159 (organic cyclic compound binding), GO:1901363 (heterocyclic compound binding), GO:0005515 (protein binding), GO:0003676 (nucleic acid binding), GO:0003723 (RNA binding)
Biological Process (BP): GO:0008150 (biological process), GO:0008152 (metabolic process), GO:0009987 (cellular process), GO:0071840 (cellular component organization or biogenesis), GO:0044238 (primary metabolic process), GO:0044237 (cellular metabolic process), GO:0071704 (organic substance metabolic process), GO:0006807 (nitrogen compound metabolic process), GO:0006725 (cellular aromatic compound metabolic process), GO:0034641 (cellular nitrogen compound metabolic process), GO:1901360 (organic cyclic compound metabolic process), GO:0044085 (cellular component biogenesis), GO:0006139 (nucleobase-containing compound metabolic process), GO:0043170 (macromolecule metabolic process), GO:0046483 (heterocycle metabolic process), GO:0043412 (macromolecule modification), GO:0090304 (nucleic acid metabolic process), GO:0010467 (gene expression), GO:0022613 (ribonucleoprotein complex biogenesis), GO:0042254 (ribosome biogenesis), GO:0016070 (RNA metabolic process), GO:0006396 (RNA processing), GO:0009451 (RNA modification), GO:0000154 (rRNA modification), GO:0034470 (ncRNA processing), GO:0006364 (rRNA processing), GO:0034660 (ncRNA metabolic process), GO:0016072 (rRNA metabolic process)
Cellular Component (CC): GO:0005575 (cellular component), GO:0032991 (protein-containing complex), GO:0110165 (cellular anatomical entity), GO:1990904 (ribonucleoprotein complex), GO:0005622 (intracellular anatomical structure), GO:0043226 (organelle), GO:1902494 (catalytic complex), GO:0140513 (nuclear protein-containing complex), GO:0001650 (fibrillar center), GO:0031974 (membrane-enclosed lumen), GO:0005654 (nucleoplasm), GO:0043229 (intracellular organelle), GO:0043228 (non-membrane-bounded organelle), GO:0043233 (organelle lumen), GO:0005732 (sno(s)RNA-containing ribonucleoprotein complex), GO:0015030 (Cajal body), GO:0043227 (membrane-bounded organelle), GO:0043231 (intracellular membrane-bounded organelle), GO:0043232 (intracellular non-membrane-bounded organelle), GO:0070013 (intracellular organelle lumen), GO:0005730 (nucleolus), GO:0005634 (nucleus), GO:0031981 (nuclear lumen)