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


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu23474 NM_001288747 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 3, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu23856 NM_001363 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu23916 NM_001142463 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 2, mRNA. pcDNA3.1+-DYK On-demand 7-9 $219.00
OHu23474C NM_001288747 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 3, mRNA. Customized vector On-demand 7-9 $269.00
OHu23856C NM_001363 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. Customized vector On-demand 7-9 $269.00
OHu23916C NM_001142463 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 2, mRNA. Customized vector On-demand 7-9 $269.00

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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?

Interactant

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