QuickView for DKC1;jsessionid=79D9A69708750C7711A19CFC836B17FD (gene)

Gene Symbol:

DKC1 Homo sapiens

Full name:

dyskerin pseudouridine synthase 1

Synonyms:

CBF5, DKC, DKCX, NAP57, NOLA4, XAP101, H/ACA ribonucleoprotein complex subunit 4, CBF5 homolog, dyskeratosis congenita 1, dyskerin, nopp140-associated protein of 57 kDa, nucleolar protein NAP57, nucleolar protein family A member 4, snoRNP protein DKC1

Genomic Location:

Chr X: 153644344-153659154

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Cytogenetic Map:

Xq28

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