Sequence in raw or FASTA format:
DKC1 dyskeratosis congenita 1, dyskerin [Homo sapiens (human)]
|Entrez Gene ID||1736|
|Full Name||dyskeratosis congenita 1, dyskerin|
|Synonyms||CBF5, DKC, DKCX, NAP57, NOLA4, XAP101|
|General protein information||
|Organism||Homo sapiens (human)|
|Summary||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].|
Dyskeratosis congenita-1, 305000 (3); Hoyeraal-Hreidarsson syndrome,
|hsa03008||Ribosome biogenesis in eukaryotes|
|hsa_M00425||H/ACA ribonucleoprotein complex|
|telomerasepathway||Regulation of Telomerase|
|REACT_8030||Extension of Telomeres|
|REACT_7974||Telomere Extension By Telomerase|
|Homo sapiens (human)||DKC1||NP_001354.1|
|Pan troglodytes (chimpanzee)||DKC1||XP_521345.3|
|Macaca mulatta (Rhesus monkey)||DKC1||XP_001090867.2|
|Canis lupus familiaris (dog)||DKC1||XP_549382.2|
|Bos taurus (cattle)||DKC1||NP_001098865.1|
|Mus musculus (house mouse)||Dkc1||NP_001025478.1|
|Rattus norvegicus (Norway rat)||Dkc1||NP_596910.1|
|Gallus gallus (chicken)||DKC1||NP_001026286.1|
|Danio rerio (zebrafish)||dkc1||NP_001028279.2|
|Drosophila melanogaster (fruit fly)||Nop60B||NP_001163289.1|
|Arabidopsis thaliana (thale cress)||NAP57||NP_191274.1|
|Xenopus (Silurana) tropicalis (western clawed frog)||dkc1||XP_004916830.1|
|GO:0007004||telomere maintenance via telomerase||TAS|
|GO:0005697||telomerase holoenzyme complex||IDA|
|GO:0009982||pseudouridine synthase activity||IEA|
|GO:0044822||poly(A) RNA binding||IDA|
What is the normal function of the DKC1 gene?
The DKC1 gene provides instructions for making a protein called dyskerin. This protein is involved in maintaining structures called telomeres, which are found at the ends of chromosomes. Telomeres help protect chromosomes from abnormally sticking together or breaking down (degrading).
In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis).
Telomeres are maintained by two important protein complexes, telomerase and shelterin. Telomerase counteracts the shortening of telomeres by adding small repeated segments of DNA to the ends of chromosomes each time the cell divides. One component of telomerase, called hTR, provides a template for creating the repeated sequence of DNA that telomerase adds to the ends of chromosomes. The dyskerin protein attaches (binds) to hTR and helps stabilize the telomerase complex.
In most types of cells, telomerase is either undetectable or active at very low levels. However, telomerase is highly active in cells that divide rapidly, such as cells that line the lungs and gastrointestinal tract, cells in bone marrow, and cells of the developing fetus. Telomerase allows these cells to divide many times without becoming damaged or undergoing apoptosis. Telomerase is also abnormally active in most cancer cells, which grow and divide without control or order.
Dyskerin is also involved in the production of ribosomal RNA (rRNA), a chemical cousin of DNA. Ribosomal RNA is required for assembling protein building blocks (amino acids) into functioning proteins.
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