NP_001135935.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
47,603 Da
NCBI Official Full Name
H/ACA ribonucleoprotein complex subunit 4 isoform 2
NCBI Official Synonym Full Names
dyskerin pseudouridine synthase 1
NCBI Official Synonym Symbols
DKC; CBF5; DKCX; NAP57; NOLA4; XAP101 [Similar Products]
NCBI Protein Information
H/ACA ribonucleoprotein complex subunit 4
UniProt Protein Name
H/ACA ribonucleoprotein complex subunit 4
UniProt Synonym Protein Names
CBF5 homolog; Dyskerin; Nopp140-associated protein of 57 kDa; Nucleolar protein NAP57; Nucleolar protein family A member 4; snoRNP protein DKC1
UniProt Synonym Gene Names
NCBI Summary for DKC1
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 Comments for DKC1
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.
Research Articles on DKC1
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Products associated with DKC1 recombinant protein
Pathways associated with DKC1 recombinant protein
Diseases associated with DKC1 recombinant protein
Organs/Tissues associated with DKC1 recombinant protein
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