Aliases for DKC1 Gene
Aliases for DKC1 Gene
External Ids for DKC1 Gene
- HGNC: 2890
- Entrez Gene: 1736
- Ensembl: ENSG00000130826
- OMIM: 300126
- UniProtKB: O60832
Previous HGNC Symbols for DKC1 Gene
- DKC
Previous GeneCards Identifiers for DKC1 Gene
- GC0XP148054
- GC0XP150371
- GC0XP151576
- GC0XP152458
- GC0XP153554
- GC0XP153984
Summaries for DKC1 Gene
-
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]
GeneCards Summary for DKC1 Gene
DKC1 (Dyskerin Pseudouridine Synthase 1) is a Protein Coding gene. Diseases associated with DKC1 include Dyskeratosis Congenita, X-Linked and Dyskeratosis Congenita. Among its related pathways are Regulation of Telomerase and Gene Expression. Gene Ontology (GO) annotations related to this gene include pseudouridine synthase activity.
UniProtKB/Swiss-Prot for DKC1 Gene
-
Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine (psi) residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
-
Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).
Additional gene information for DKC1 Gene
- Monarch Initiative
- Search for DKC1 at DataMed
- Search for DKC1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DKC1 Gene
Genomics for DKC1 Gene
GeneHancer (GH) Regulatory Elements for DKC1 Gene
Regulatory Element Products
Genomic Locations for DKC1 Gene
- chrX:154,762,742-154,777,689
- (GRCh38/hg38)
- Size:
- 14,948 bases
- Orientation:
- Plus strand
- chrX:153,991,031-154,005,964
- (GRCh37/hg19)
Genomic View for DKC1 Gene
- Cytogenetic band:
-
- Xq28 by Ensembl
- Xq28 by Entrez Gene
- Xq28 by HGNC


RefSeq DNA sequence for DKC1 Gene
Proteins for DKC1 Gene
-
Protein details for DKC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O60832-DKC1_HUMAN
- Recommended name:
- H/ACA ribonucleoprotein complex subunit 4
- Protein Accession:
- O60832
- F5BSB3
- O43845
- Q96G67
- Q9Y505
Protein attributes for DKC1 Gene
- Size:
- 514 amino acids
- Molecular mass:
- 57674 Da
- Quaternary structure:
-
- Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2, GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a stable core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1. The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex also interacts with TERC, which contains a 3-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2. The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Interacts with SHQ1; this interaction may lead to the stabilization of DKC1, from the time of its synthesis until its association with NOP10, NHP2, and NAF1 at the nascent H/ACA RNA.
Protein Expression for DKC1 Gene
Selected DME Specific Peptides for DKC1 Gene
- O60832:
-
- CVHLGLLLGVGG
- LDPKVTG
- NAICYGAK
- ELRRVRSG
- NLDKPSNPSSHEVV
- GCLIVCI
- RATRLVKSQQ
- AVKRQLR
- RDTYPRKWGLGP
- KRVIMERD
- WPLLLKN
- GTLDPKV
- SHEVVAW
- AIALMTTA
Post-translational modifications for DKC1 Gene
- Ubiquitination at posLast=3939, Lys80, Lys151, posLast=191191, Lys302, and posLast=394394
Other Protein References for DKC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for DKC1 (dyskerin)
-
Custom Antibody ServicesOriGene Antibodies for DKC1
- Novus Biologicals Antibodies for DKC1
-
Abcam antibodies for DKC1
-
Cloud-Clone Corp. Antibodies for DKC1
- Invitrogen Antibodies for DKC1
- antibodies-online: Search results for 92 available DKC1 Antibodies ranked by validation data
- Compare Top DKC1 Antibodies
-
Recommended
- 57 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 3 IHC (p) Antibodies (anti-human)
- 1 IF/ICC Antibody (anti-human)
- 36 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-mouse)
- 1 IF/ICC Antibody (anti-mouse)
- 24 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- GeneTex DKC1 antibody for DKC1
-
Santa Cruz Biotechnology (SCBT) Antibodies for DKC1
Protein Products
-
OriGene Purified Proteins for DKC1
- Search Origene for MassSpec and Protein Over-expression Lysates for DKC1
- Origene Custom Protein Services for DKC1
-
Cloud-Clone Corp. Proteins for DKC1
- Search GeneTex for Proteins for DKC1
-
Abcam proteins for DKC1
Assay Products
Domains & Families for DKC1 Gene
Gene Families for DKC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for DKC1 Gene
Suggested Antigen Peptide Sequences for DKC1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O60832- Family:
-
- Belongs to the pseudouridine synthase TruB family.
Function for DKC1 Gene
Molecular function for DKC1 Gene
- GENATLAS Biochemistry:
- dyskerin,multifunctional protein,mainly expressed in the rapidly dividing cells of the epithelia and the hemopoietic system located in the nucleoli and the coiled bodies,possibly in pseudo-uridylation,involved in rRNA biosynthesis,ribosomal subunit assembly,and/or centromere/microtubule binding,ortholog of the rat NAP57 and yeast CBF5
- UniProtKB/Swiss-Prot CatalyticActivity:
- RNA uridine = RNA pseudouridine.
- UniProtKB/Swiss-Prot Function:
- Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine (psi) residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
- UniProtKB/Swiss-Prot Function:
- Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).
Enzyme Numbers (IUBMB) for DKC1 Gene
Phenotypes From GWAS Catalog for DKC1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003720 | contributes_to telomerase activity | IDA | 23685356 |
GO:0003723 | RNA binding | IPI | 18082603 |
GO:0005515 | protein binding | IPI | 16601202 |
GO:0009982 | pseudouridine synthase activity | IBA | -- |
GO:0016853 | isomerase activity | IEA | -- |
Phenotypes for DKC1 Gene
- MGI mutant phenotypes for DKC1:
-
inferred from 9 alleles
- normal phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- growth/size/body region phenotype
- neoplasm
- reproductive system phenotype
- integument phenotype
- embryo phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for DKC1:
-
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Synthetic lethal with Ras
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased NF-kappaB reporter expression
- Decreased viability
- Decreased IL-8 secretion
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Reduced beta-catenin activity and colon cancer cell proliferation
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DKC1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for DKC1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DKC1 gene
- Search ViGene Biosciences for DKC1
CRISPR Products
-
OriGene CRISPR knockouts for DKC1
- genomics-online: gRNA clones - Search results for available DKC1 gene related products
- Applied Biological Materials CRISPR for DKC1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DKC1
- GenScript: Design CRISPR guide RNA sequences for DKC1
miRNA for DKC1 Gene
- miRTarBase miRNAs that target DKC1
miRNA Products
- Search ViGene Biosciences for DKC1
Inhibitory RNA Products
- Origene sirna, RNAi, and shrna products in human, mouse, rat for DKC1
- Browse OriGene Inhibitory RNA Products For DKC1
- genomics-online: shRNA clones - Search results for available DKC1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for DKC1 gene
Clone Products
- Sino Biological Human cDNA Clone for DKC1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DKC1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DKC1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DKC1
- genomics-online: cdna clones - Search results for available DKC1 gene related products
- orf clones - Search results for available DKC1 gene related products
- Applied Biological Materials Clones for DKC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for DKC1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for DKC1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DKC1 gene
No data available for Transcription Factor Targets and HOMER Transcription for DKC1 Gene
Localization for DKC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DKC1 Gene
- Isoform 1: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies).
- Isoform 3: Cytoplasm.
- Nucleoli fibrillar center (3)
- Nucleus (3)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | IDA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005697 | telomerase holoenzyme complex | TAS | 20351177 |
GO:0005730 | nucleolus | TAS | 10556300 |
Pathways & Interactions for DKC1 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | rRNA processing in the nucleus and cytosol |
.89
|
|
2 | Chromosome Maintenance | ||
3 | Telomere C-strand (Lagging Strand) Synthesis | ||
4 | Ribosome biogenesis in eukaryotes | ||
5 | Chromatin Regulation / Acetylation |
Pathways by source for DKC1 Gene
1 Cell Signaling Technology pathway for DKC1 Gene
1 BioSystems pathway for DKC1 Gene
9 Reactome pathways for DKC1 Gene
1 KEGG pathway for DKC1 Gene
1 Qiagen pathway for DKC1 Gene
Interacting Proteins for DKC1 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000495 | box H/ACA snoRNA 3-end processing | IBA | -- |
GO:0001522 | pseudouridine synthesis | IEA | -- |
GO:0006364 | rRNA processing | TAS | 10556300 |
GO:0006396 | RNA processing | TAS | 9590285 |
GO:0007004 | telomere maintenance via telomerase | TAS | -- |
No data available for SIGNOR curated interactions for DKC1 Gene
Transcripts for DKC1 Gene
mRNA/cDNA for DKC1 Gene
- (3) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (460) Selected AceView cDNA sequences:
- (13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DKC1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for DKC1
- genomics-online: gRNA clones - Search results for available DKC1 gene related products
- Applied Biological Materials CRISPR for DKC1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DKC1
- GenScript: Design CRISPR guide RNA sequences for DKC1
miRNA Products
- Search ViGene Biosciences for DKC1
Inhibitory RNA Products
- Origene sirna, RNAi, and shrna products in human, mouse, rat for DKC1
- Browse OriGene Inhibitory RNA Products For DKC1
- genomics-online: shRNA clones - Search results for available DKC1 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for DKC1 gene
Clone Products
- Sino Biological Human cDNA Clone for DKC1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for DKC1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DKC1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DKC1
- genomics-online: cdna clones - Search results for available DKC1 gene related products
- orf clones - Search results for available DKC1 gene related products
- Applied Biological Materials Clones for DKC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
Expression for DKC1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DKC1 Gene
NURSA nuclear receptor signaling pathways regulating expression of DKC1 Gene:
DKC1SOURCE GeneReport for Unigene cluster for DKC1 Gene:
Hs.4747mRNA Expression by UniProt/SwissProt for DKC1 Gene:
O60832-DKC1_HUMANEvidence on tissue expression from TISSUES for DKC1 Gene
- Liver(4.4)
- Lung(3.3)
- Nervous system(2.9)
- Skin(2.6)
- Bone marrow(2.5)
- Intestine(2.3)
- Spleen(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DKC1 Gene
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- jaw
- lacrimal apparatus
- mandible
- maxilla
- mouth
- neck
- pharynx
- salivary gland
- scalp
- skull
- tooth
- breast
- chest wall
- clavicle
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
- trachea
- intestine
- kidney
- large intestine
- liver
- small intestine
- spleen
- stomach
- anus
- ovary
- pelvis
- penis
- rectum
- testicle
- urethra
- urinary bladder
- uterus
- vagina
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nervous system
- red blood cell
- skin
- spinal column
- sweat gland
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for DKC1
-
OriGene qPCR primer pairs for DKC1
- genomics-online: primer clones - Search results for available DKC1 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DKC1 Gene
Orthologs for DKC1 Gene
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | DKC1 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | -- 34 |
|
OneToMany | |
DKC1 33 |
|
||||
-- 34 |
|
OneToMany | |||
mouse (Mus musculus) |
Mammalia | Dkc1 33 16 34 |
|
||
cow (Bos Taurus) |
Mammalia | DKC1 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
-- 34 |
|
OneToMany | |||
rat (Rattus norvegicus) |
Mammalia | Dkc1 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | DKC1 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | DKC1 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | DKC1 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | dkc1 33 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21410 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | dkc1 33 34 |
|
||
wufa28f10 33 |
|
||||
rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12154 33 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004739 33 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Nop60B 35 33 34 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | K01G5.5 35 33 34 |
|
||
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AAL007C 33 |
|
||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CBF5 33 34 36 |
|
||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D04796g 33 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | NAP57 33 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.9629 33 |
|
||
rice (Oryza sativa) |
Liliopsida | Os07g0636000 33 |
|
||
Os.13464 33 |
|
||||
barley (Hordeum vulgare) |
Liliopsida | Hv.3884 33 |
|
||
wheat (Triticum aestivum) |
Liliopsida | Ta.9549 33 |
|
||
corn (Zea mays) |
Liliopsida | Zm.10393 33 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2418 34 |
|
OneToOne | |
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | cbf5 33 |
|
||
bread mold (Neurospora crassa) |
Ascomycetes | NCU01290 33 |
|
- Species where no ortholog for DKC1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Paralogs for DKC1 Gene
No data available for Paralogs for DKC1 Gene
Variants for DKC1 Gene
SNP ID | Clin | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs121912287 | not-provided, Dyskeratosis congenita X-linked, Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] | 154,765,525(+) | CT/TC | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs121912288 | pathogenic, Dyskeratosis congenita X-linked, Dyskeratosis congenita, Dyskeratosis congenita, X-linked (DKCX) [MIM:305000], Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000] | 154,773,152(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs121912289 | pathogenic, Dyskeratosis congenita X-linked, Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] | 154,774,672(+) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs121912290 | pathogenic, Dyskeratosis congenita X-linked, Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] | 154,770,792(+) | C/G/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs121912291 | pathogenic, Dyskeratosis congenita X-linked, Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] | 154,770,808(+) | G/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
Additional Variant Information for DKC1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DKC1 Gene
Disorders for DKC1 Gene

(16) MalaCards diseases for DKC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
dyskeratosis congenita, x-linked |
|
|
dyskeratosis congenita |
|
|
leukoplakia |
|
|
cerebellar hypoplasia |
|
|
pancytopenia |
|
UniProtKB/Swiss-Prot
DKC1_HUMAN- Dyskeratosis congenita, X-linked (DKCX) [MIM:305000]: A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. {ECO:0000269 PubMed:10364516, ECO:0000269 PubMed:15304085, ECO:0000269 PubMed:17417794, ECO:0000269 PubMed:18802941, ECO:0000269 PubMed:19734544, ECO:0000269 PubMed:19879169, ECO:0000269 PubMed:9590285}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000]: A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency. {ECO:0000269 PubMed:10583221, ECO:0000269 PubMed:12437656, ECO:0000269 PubMed:19734544, ECO:0000269 PubMed:24914498}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for DKC1 Gene
Additional Disease Information for DKC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for DKC1 Gene
- X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. (PMID: 9590285) Heiss NS … Dokal I (Nature genetics 1998) 2 3 4 22 58
- Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. (PMID: 19879169) Rostamiani K … Metzenberg AB (Blood cells, molecules & diseases 2010) 3 4 22 58
- Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. (PMID: 19734544) Grozdanov PN … Meier UT (Human molecular genetics 2009) 3 4 22 58
- Identification of a novel mutation in DKC1 in dyskeratosis congenita. (PMID: 18802941) Kurnikova M … Shagin D (Pediatric blood & cancer 2009) 3 4 22 58
- A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. (PMID: 19179534) Venteicher AS … Artandi SE (Science (New York, N.Y.) 2009) 3 4 22 58
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Sources for DKC1 Gene
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