Rabbit anti-Human DKC1 Polyclonal Antibody

Uniprot Id

O60832

Target Species

Human

Target Name

DKC1

Target Full Name

H/ACA ribonucleoprotein complex subunit DKC1

Target 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.; Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.

Target Involvement

Dyskeratosis congenita, X-linked (DKCX); Hoyeraal-Hreidarsson syndrome (HHS)

Target Subcellular Location

[Isoform 1]: Nucleus, nucleolus. Nucleus, Cajal body.; [Isoform 3]: Cytoplasm.

Target Protein Families

Pseudouridine synthase TruB family

Target Tissue Specificity

Ubiquitously expressed.

Target Synonyms

CBF5; CBF5 homolog; Cbf5p homolog; DKC 1; DKC; Dkc1; DKC1_HUMAN; DKCX; Dyskeratosis congenita 1; Dyskeratosis congenita 1 dyskerin; Dyskerin; H/ACA ribonucleoprotein complex subunit 4; NAP 57; NAP57; NOLA 4; NOLA4; Nopp140 associated protein of 57 kDa; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1; XAP 101; XAP101

Target Background

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.