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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_001363 Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol DKC1
Entrez Gene ID 1736
Full Name dyskeratosis congenita 1, dyskerin
Synonyms CBF5, DKC, FLJ97620, NAP57, NOLA4, XAP101
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

X

Xq28

Summary This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. These four H/ACA snoRNP proteins are also components of the telomerase complex. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita, a disease resulting in reticulate skin pigmentation, mucosal leukoplakia, nail dystrophy, and progressive bone marrow failure in most cases. Mutations in this gene also cause Hoyeraal-Hreidarsson syndrome, which is a more severe form of dyskeratosis congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013].
Disorder

MIM: 300126

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

mRNA Protein Product Sequence Price Select
NM_001142463, 215599014 NP_001135935, 215599015 H/ACA ribonucleoprotein complex subunit 4 isoform 2 ORF Sequence $550.00
NM_001363, 215598984 NP_001354, 4503337 H/ACA ribonucleoprotein complex subunit 4 isoform 1 ORF Sequence $550.00
KEGG
hsa_M00425H/ACA ribonucleoprotein complex
hsa03008Ribosome biogenesis in eukaryotes
Pathway Interaction Database
telomerasepathwayRegulation of Telomerase
Reactome
REACT_22172Chromosome Maintenance
REACT_115566Cell Cycle
REACT_7974Telomere Extension By Telomerase
REACT_8030Extension of Telomeres
REACT_7970Telomere Maintenance
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
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
GeneCards DKC1
UniProt O60832
MIM 300126
Ensembl ENSG00000130826
HGNC 2890
HPRD 02129

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

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

Interactant



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