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DKC1 dyskeratosis congenita 1, dyskerin [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001142463 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001288747 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $699.00 18
NM_001363 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Related Services

Gene Symbol DKC1
Entrez Gene ID 1736
Full Name dyskeratosis congenita 1, dyskerin
Synonyms CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
General protein information
Preferred Names
H/ACA ribonucleoprotein complex subunit 4
Names
H/ACA ribonucleoprotein complex subunit 4
CBF5 homolog
cbf5p homolog
snoRNP protein DKC1
nucleolar protein NAP57
nucleolar protein family A member 4
nopp140-associated protein of 57 kDa
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq28

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].
Disorder

MIM: 300126

Dyskeratosis congenita-1, 305000 (3); Hoyeraal-Hreidarsson syndrome,

mRNA Protein Product Sequence Price Select
NM_001142463, 570700848 NP_001135935, 215599015 H/ACA ribonucleoprotein complex subunit 4 isoform 2 ORF Sequence $550.00
NM_001288747, 570700850 NP_001275676, 570700851 H/ACA ribonucleoprotein complex subunit 4 isoform 3 ORF Sequence $550.00
NM_001363, 570700849 NP_001354, 4503337 H/ACA ribonucleoprotein complex subunit 4 isoform 1 ORF Sequence $550.00
KEGG
hsa03008Ribosome biogenesis in eukaryotes
hsa_M00425H/ACA ribonucleoprotein complex
Pathway Interaction Database
telomerasepathwayRegulation of Telomerase
Reactome
REACT_7970Telomere Maintenance
REACT_8030Extension of Telomeres
REACT_7974Telomere Extension By Telomerase
REACT_22172Chromosome Maintenance
REACT_115566Cell Cycle
Homo sapiens (human)DKC1NP_001354.1
Pan troglodytes (chimpanzee)DKC1XP_521345.3
Macaca mulatta (Rhesus monkey)DKC1XP_001090867.2
Canis lupus familiaris (dog)DKC1XP_549382.2
Bos taurus (cattle)DKC1NP_001098865.1
Mus musculus (house mouse)Dkc1NP_001025478.1
Rattus norvegicus (Norway rat)Dkc1NP_596910.1
Gallus gallus (chicken)DKC1NP_001026286.1
Danio rerio (zebrafish)dkc1NP_001028279.2
Drosophila melanogaster (fruit fly)Nop60BNP_001163289.1
Caenorhabditis elegansK01G5.5NP_499370.1
Arabidopsis thaliana (thale cress)NAP57NP_191274.1
Xenopus (Silurana) tropicalis (western clawed frog)dkc1XP_004916830.1
Process
IDNameEvidence
GO:0000723telomere maintenanceTAS
GO:0001522pseudouridine synthesisIEA
GO:0006364rRNA processingIEA
GO:0006396RNA processingTAS
GO:0007004telomere maintenance via telomeraseTAS
GO:0008283cell proliferationTAS
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0005697telomerase holoenzyme complexIDA
GO:0005730nucleolusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIEA
GO:0015030Cajal bodyIEA
Function
IDNameEvidence
GO:0003720telomerase activityIDA
GO:0003723RNA bindingTAS
GO:0005515protein bindingIPI
GO:0009982pseudouridine synthase activityIEA
GO:0044822poly(A) RNA bindingIDA
GeneCards DKC1
UniProt O60832
Vega OTTHUMG00000024242
MIM 300126
Ensembl ENSG00000130826
HGNC 2890
HPRD 02129

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.

Interactant

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