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:
Recommended next Filters:
76 results :
ORF
Clon
Cloning Vector
pORF
Spectinomycin
unconjugated
Transient
- Type:
- ORF
- Application:
- Cloning
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- Species:
- Human
- Vector type:
- Cloning Vector
- Vector backbone:
- pORF
- Resistance Gene:
- Spectinomycin
- Expression:
- Transient
ORF
Clon
Cloning Vector
pORF
Spectinomycin
unconjugated
Transient
- Type:
- ORF
- Application:
- Cloning
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- Species:
- Human
- Vector type:
- Cloning Vector
- Vector backbone:
- pORF
- Resistance Gene:
- Spectinomycin
- Expression:
- Transient
cDNA
PExp
Mammalian Expression Vector
pPM-C-HA
Kanamycin
CMV Promoter
HA tag
Stable
- Type:
- cDNA
- Application:
- Protein Expression
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- Species:
- Human
- Vector type:
- Mammalian Expression Vector
- Vector backbone:
- pPM-C-HA
- Resistance Gene:
- Kanamycin
- Selection Marker:
- Neomycin
- Promoter:
- CMV Promoter
- Fusion Tag:
- HA tag
- Expression:
- Stable, Transient
cDNA
PExp
Mammalian Expression Vector
pPM-C-HA
Kanamycin
CMV Promoter
HA tag
Stable
- Type:
- cDNA
- Application:
- Protein Expression
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- Species:
- Human
- Vector type:
- Mammalian Expression Vector
- Vector backbone:
- pPM-C-HA
- Resistance Gene:
- Kanamycin
- Selection Marker:
- Neomycin
- Promoter:
- CMV Promoter
- Fusion Tag:
- HA tag
- Expression:
- Stable, Transient
gRNA
PExp, GEEN
Lentiviral Vector
pLenti-U6-sgRNA-PGK-Neo
Ampicillin
U6 Promoter
unconjugated
Stable
- Type:
- gRNA
- Application:
- Protein Expression, Genome Editing with Engineered Nucleases
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- NCBI Accession:
- NM_133419
- Species:
- Rat
- Vector type:
- Lentiviral Vector
- Vector backbone:
- pLenti-U6-sgRNA-PGK-Neo
- Resistance Gene:
- Ampicillin
- Selection Marker:
- Neomycin
- Promoter:
- U6 Promoter, PGK Promoter
- Expression:
- Stable, Transient
gRNA
PExp, GEEN
Lentiviral Vector
pLenti-U6-sgRNA-PGK-Neo
Ampicillin
U6 Promoter
unconjugated
Stable
- Type:
- gRNA
- Application:
- Protein Expression, Genome Editing with Engineered Nucleases
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- NCBI Accession:
- NM_001030307
- Species:
- Mouse
- Vector type:
- Lentiviral Vector
- Vector backbone:
- pLenti-U6-sgRNA-PGK-Neo
- Resistance Gene:
- Ampicillin
- Selection Marker:
- Neomycin
- Promoter:
- U6 Promoter, PGK Promoter
- Expression:
- Stable, Transient
gRNA
PExp, GEEN
Lentiviral Vector
pLenti-U6-sgRNA-PGK-Neo
Ampicillin
U6 Promoter
unconjugated
Stable
- Type:
- gRNA
- Application:
- Protein Expression, Genome Editing with Engineered Nucleases
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- NCBI Accession:
- NM_001363
- Species:
- Human
- Vector type:
- Lentiviral Vector
- Vector backbone:
- pLenti-U6-sgRNA-PGK-Neo
- Resistance Gene:
- Ampicillin
- Selection Marker:
- Neomycin
- Promoter:
- U6 Promoter, PGK Promoter
- Expression:
- Stable, Transient
cDNA
Clon
Bacterial Expression Vector
pPB-N-His
Kanamycin
T7 Promoter
His tag
Transient
- Type:
- cDNA
- Application:
- Cloning
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- Species:
- Human
- Vector type:
- Bacterial Expression Vector
- Vector backbone:
- pPB-N-His
- Resistance Gene:
- Kanamycin
- Promoter:
- T7 Promoter
- Fusion Tag:
- His tag
- Expression:
- Transient
cDNA
Clon
Bacterial Expression Vector
pPB-N-His
Kanamycin
T7 Promoter
His tag
Transient
- Type:
- cDNA
- Application:
- Cloning
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- Species:
- Human
- Vector type:
- Bacterial Expression Vector
- Vector backbone:
- pPB-N-His
- Resistance Gene:
- Kanamycin
- Promoter:
- T7 Promoter
- Fusion Tag:
- His tag
- Expression:
- Transient
cDNA
Clon
Bacterial Expression Vector
pPB-His-GST
Kanamycin
T7 Promoter
His-GST
Transient
- Type:
- cDNA
- Application:
- Cloning
- Gene:
- Dyskeratosis Congenita 1, Dyskerin (DKC1)
- Species:
- Human
- Vector type:
- Bacterial Expression Vector
- Vector backbone:
- pPB-His-GST
- Resistance Gene:
- Kanamycin
- Promoter:
- T7 Promoter
- Fusion Tag:
- His-GST
- Expression:
- Transient
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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