DKC1 (Dyskeratosis Congenita 1, Dyskerin, DKC1)
Short Description: 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].
More information related to gene DKC1.
More information related to gene DKC1.
Products related to DKC1 Gene:
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76 results
OriGene rc226852l2
ORF
PExp
Lentiviral Vector
pLenti-C-mGFP
Chloramphenicol
CMV Promoter
GFP tag
Transient
1
- Type:
- ORF
- Application:
- Protein Expression
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- NCBI Accession:
- NM_001142463,NP_001135935
- Species:
- Human
- Vector type:
- Lentiviral Vector
- Vector backbone:
- pLenti-C-mGFP
- Resistance Gene:
- Chloramphenicol
- Promoter:
- CMV Promoter
- Fusion Tag:
- GFP tag
- Expression:
- Transient
Catalog No. ABIN5345195
$766.26
Plus shipping costs $50.00
10 μg
Shipping to:
United States
Delivery in 21 to 22 Business Days
OriGene rc226852l1
ORF
PExp
Lentiviral Vector
pLenti-C-Myc-DDK
Chloramphenicol
CMV Promoter
Myc-DYKDDDDK Tag
Transient
1
- Type:
- ORF
- Application:
- Protein Expression
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- NCBI Accession:
- NM_001142463,NP_001135935
- Species:
- Human
- Vector type:
- Lentiviral Vector
- Vector backbone:
- pLenti-C-Myc-DDK
- Resistance Gene:
- Chloramphenicol
- Promoter:
- CMV Promoter
- Fusion Tag:
- Myc-DYKDDDDK Tag
- Expression:
- Transient
Catalog No. ABIN5345198
$766.26
Plus shipping costs $50.00
10 μg
Shipping to:
United States
Delivery in 21 to 22 Business Days
ORF
PExp
Mammalian Expression Vector
pcDNA3.1+C-(K)-DYK
Ampicillin
CMV Promoter
DYKDDDDK Tag
Transient
- Type:
- ORF
- Application:
- Protein Expression
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- NCBI Accession:
- NM_001142463
- Gene ID:
- 1736 (Human, DKC1)
- Vector type:
- Mammalian Expression Vector
- Vector backbone:
- pcDNA3.1+C-(K)-DYK
- Resistance Gene:
- Ampicillin
- Selection Marker:
- Neomycin
- Promoter:
- CMV Promoter
- Fusion Tag:
- DYKDDDDK Tag
- Expression:
- Transient, Stable
Catalog No. ABIN4930541
$429.00
Plus shipping costs $50.00
10 μg
Shipping to:
United States
Delivery in 6 to 9 Business Days
ORF
PExp
Mammalian Expression Vector
pcDNA3.1+C-(K)-DYK
Ampicillin
CMV Promoter
DYKDDDDK Tag
Transient
- Type:
- ORF
- Application:
- Protein Expression
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- NCBI Accession:
- NM_001288747
- Gene ID:
- 1736 (Human, DKC1)
- Vector type:
- Mammalian Expression Vector
- Vector backbone:
- pcDNA3.1+C-(K)-DYK
- Resistance Gene:
- Ampicillin
- Selection Marker:
- Neomycin
- Promoter:
- CMV Promoter
- Fusion Tag:
- DYKDDDDK Tag
- Expression:
- Transient, Stable
Catalog No. ABIN4940041
$319.00
Plus shipping costs $50.00
10 μg
Shipping to:
United States
Delivery in 4 to 7 Business Days
ORF
PExp
Mammalian Expression Vector
pcDNA3.1+C-(K)-DYK
Ampicillin
CMV Promoter
DYKDDDDK Tag
Transient
- Type:
- ORF
- Application:
- Protein Expression
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- NCBI Accession:
- NM_001363
- Gene ID:
- 1736 (Human, DKC1)
- Vector type:
- Mammalian Expression Vector
- Vector backbone:
- pcDNA3.1+C-(K)-DYK
- Resistance Gene:
- Ampicillin
- Selection Marker:
- Neomycin
- Promoter:
- CMV Promoter
- Fusion Tag:
- DYKDDDDK Tag
- Expression:
- Transient, Stable
Catalog No. ABIN4940042
$379.00
Plus shipping costs $50.00
10 μg
Shipping to:
United States
Delivery in 4 to 7 Business Days
OriGene sr301208
RNAi
DKC1
Species: Human
HPLC purified
- Application:
- RNA Interference
- Gene:
- Dyskeratosis Congenita 1, Dyskerin
- Species:
- Human
- Purification:
- HPLC purified
Catalog No. ABIN3340996
$512.82
Plus shipping costs $50.00
1 kit
Shipping to:
United States
Delivery in 16 to 17 Business Days
Synonyms and alternative names related to DKC1
- dyskerin pseudouridine synthase 1 (DKC1)
- microRNA 664b (MIR664B)
- dyskeratosis congenita 1, dyskerin (dkc1)
- dyskeratosis congenita 1, dyskerin L homeolog (dkc1.L)
- dyskeratosis congenita 1, dyskerin (Dkc1)
- dyskerin pseudouridine synthase 1 (Dkc1)
- homologue of NAP57 (NAP57)
- AtCBF5
- AtNAP57
- BC068171
- CBF5
- cbf5
- DKC
- dkc
- DKC1
- DKCX
- dyskerin
- fv62a07
- homologue of NAP57
- NAP57
- nap57
- Nap57
- NOLA4
- nola4
- wu:fa28f10
- wu:fc87a02
- wu:fi24a05
- wu:fv62a07
- XAP101
- xap101
- zgc:110395
Gene-IDs for different species
Protein level used designations for DKC1
- CBF5 homolog
- H/ACA ribonucleoprotein complex subunit 4
- cbf5p homolog
- nopp140-associated protein of 57 kDa
- nucleolar protein NAP57
- nucleolar protein family A member 4
- snoRNP protein DKC1
- dyskerin
- fc87a02
- fi24a05
- dyskeratosis congenita 1, dyskerin
- H/ACA ribonucleoprotein complex subunit 4-like
- h/ACA ribonucleoprotein complex subunit 4-like
- dyskeratosis congenita 1, dyskerin homolog
Proteomics products related to DKC1 Gene
Other products related to DKC1 such as antibodies, ELISA kits and high-purity proteins are available on our partner website antibodies-online.com
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