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Aliases for DKC1 Gene

Aliases for DKC1 Gene

  • Dyskerin Pseudouridine Synthase 1 2 3 5
  • H/ACA Ribonucleoprotein Complex Subunit 4 2 3
  • Nopp140-Associated Protein Of 57 KDa 3 4
  • Nucleolar Protein Family A Member 4 3 4
  • Dyskeratosis Congenita 1, Dyskerin 2 3
  • Nucleolar Protein NAP57 3 4
  • SnoRNP Protein DKC1 3 4
  • CBF5 Homolog 3 4
  • NOLA4 3 4
  • EC 5.4.99.- 4
  • EC 5.4.99 56
  • Dyskerin 4
  • XAP101 3
  • NAP57 3
  • CBF5 3
  • DKCX 3
  • DKC 3

External Ids for DKC1 Gene

Previous HGNC Symbols for DKC1 Gene

  • DKC

Previous GeneCards Identifiers for DKC1 Gene

  • GC0XP148054
  • GC0XP150371
  • GC0XP151576
  • GC0XP152458
  • GC0XP153554
  • GC0XP153984

Summaries for DKC1 Gene

Entrez Gene Summary 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).

Gene Wiki entry for DKC1 Gene

Additional gene information for DKC1 Gene

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

Promoters and enhancers for DKC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI154760 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.3 336 4.4 HDGF CLOCK FOXA2 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 ZNF143 DKC1 F8A1 HCFC1 SNORA56 SLC10A3 SNORA70 TMLHE-AS1 EMD GC0XP154771 GC0XP154770
GH0XI154396 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 43.2 -363.3 -363262 6.2 HNRNPUL1 PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SNORA70 GC0XP154402 GC0XP154401 ENSG00000280195 RPL10 PLXNA3 HCFC1 DKC1 SNORA56 EMD
GH0XI154796 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 33.8 +38.7 38659 10.1 HDGF PKNOX1 SMAD1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 MPP1 F8A1 DKC1 SNORA56 F8A2 SNORA70 SNORA36A IKBKG TMLHE HCFC1
GH0XI154723 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 54.9 -31.3 -31317 16 FOXA2 ZFP64 IRF4 YY1 ZNF213 FOS RUNX3 RXRA JUNB ZC3H11A DKC1 SNORA70 HCFC1 SNORA56 F8A1 EMD GAB3 PLXNA3 F8A2 SLC10A3
GH0XI154376 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 25 -383.6 -383597 5.7 HDGF PKNOX1 ARNT ARID4B SIN3A POLR2B ZNF213 E2F8 ZNF207 SP3 EMD PLXNA3 DKC1 HCFC1 SNORA70 SLC10A3 SNORA56 TMEM187 RPL10 CH17-340M24.3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DKC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DKC1 gene promoter:

Genomic Locations for DKC1 Gene

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

Genes around DKC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DKC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DKC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

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
    Secondary Accessions:
    • 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.

    Alternative splice isoforms for DKC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

Domains & Families for DKC1 Gene

Gene Families for DKC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DKC1 Gene

Graphical View of Domain Structure for InterPro Entry

O60832

UniProtKB/Swiss-Prot:

DKC1_HUMAN :
  • Belongs to the pseudouridine synthase TruB family.
Family:
  • Belongs to the pseudouridine synthase TruB family.
genes like me logo Genes that share domains with DKC1: view

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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with DKC1: view
genes like me logo Genes that share phenotypes with DKC1: view

Human Phenotype Ontology for DKC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DKC1 Gene

MGI Knock Outs for DKC1:

Animal Model Products

CRISPR Products

miRNA for DKC1 Gene

miRTarBase miRNAs that target DKC1

Inhibitory RNA Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DKC1 gene
Compartment Confidence
nucleus 5
mitochondrion 2
cytosol 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DKC1 Gene

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
genes like me logo Genes that share ontologies with DKC1: view

Pathways & Interactions for DKC1 Gene

genes like me logo Genes that share pathways with DKC1: view

Pathways by source for DKC1 Gene

1 Cell Signaling Technology pathway for DKC1 Gene
1 BioSystems pathway for DKC1 Gene
1 KEGG pathway for DKC1 Gene
1 Qiagen pathway for DKC1 Gene

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with DKC1: view

No data available for SIGNOR curated interactions for DKC1 Gene

Drugs & Compounds for DKC1 Gene

(2) Drugs for DKC1 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine Experimental, Investigational Pharma 0
V934/V935 Pharma 0

(2) Additional Compounds for DKC1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pseudouridine
  • 5-(b-D-Ribofuranosyl)uracil
  • 5-(b-delta-Ribofuranosyl)uracil
  • 5-b-D-Ribofuranosyl-Uracil
  • 5-beta-delta-Ribofuranosyl-Uracil
  • 5-Ribosyluracil
1445-07-4
genes like me logo Genes that share compounds with DKC1: view

Transcripts for DKC1 Gene

Unigene Clusters for DKC1 Gene

Dyskeratosis congenita 1, dyskerin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DKC1 Gene

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:

Relevant External Links for DKC1 Gene

GeneLoc Exon Structure for
DKC1
ECgene alternative splicing isoforms for
DKC1

Expression for DKC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DKC1 Gene

Protein differential expression in normal tissues from HIPED for DKC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.0), Tlymphocyte (6.4), and Nasal epithelium (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DKC1 Gene



Protein tissue co-expression partners for DKC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DKC1 Gene:

DKC1

SOURCE GeneReport for Unigene cluster for DKC1 Gene:

Hs.4747

mRNA Expression by UniProt/SwissProt for DKC1 Gene:

O60832-DKC1_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence 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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • salivary gland
  • scalp
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • trachea
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • rectum
  • testicle
  • urethra
  • urinary bladder
  • uterus
  • vagina
Limb:
  • 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
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with DKC1: view

Primer 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.

Orthologs for DKC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DKC1 33 34
  • 98.38 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 91 (a)
OneToMany
DKC1 33
  • 89.3 (n)
-- 34
  • 81 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dkc1 33 16 34
  • 88.91 (n)
cow
(Bos Taurus)
Mammalia DKC1 33 34
  • 88.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dkc1 33
  • 74.08 (n)
oppossum
(Monodelphis domestica)
Mammalia DKC1 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DKC1 33 34
  • 76.77 (n)
lizard
(Anolis carolinensis)
Reptilia DKC1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dkc1 33
  • 72.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21410 33
zebrafish
(Danio rerio)
Actinopterygii dkc1 33 34
  • 73.13 (n)
wufa28f10 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12154 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004739 33
  • 64.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nop60B 35 33 34
  • 64.71 (n)
worm
(Caenorhabditis elegans)
Secernentea K01G5.5 35 33 34
  • 61.79 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL007C 33
  • 63.16 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBF5 33 34 36
  • 61.48 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04796g 33
  • 60.89 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NAP57 33
  • 63.05 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9629 33
rice
(Oryza sativa)
Liliopsida Os07g0636000 33
  • 61.89 (n)
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
  • 66 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cbf5 33
  • 63.74 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01290 33
  • 60.99 (n)
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)

Evolution for DKC1 Gene

ENSEMBL:
Gene Tree for DKC1 (if available)
TreeFam:
Gene Tree for DKC1 (if available)

Paralogs for DKC1 Gene

No data available for Paralogs for DKC1 Gene

Variants for DKC1 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for DKC1 Gene

Variant ID Type Subtype PubMed ID
esv33784 CNV gain+loss 17666407

Variation tolerance for DKC1 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DKC1 Gene

Human Gene Mutation Database (HGMD)
DKC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DKC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DKC1 Gene

Disorders for DKC1 Gene

MalaCards: The human disease database

(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
  • hhs
dyskeratosis congenita
  • zinsser-cole-engman syndrome
leukoplakia
cerebellar hypoplasia
  • cerebellar hypoplasia-tapetoretinal degeneration syndrome
pancytopenia
- elite association - COSMIC cancer census association via MalaCards
Search DKC1 in MalaCards View complete list of genes associated with diseases

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

dyskeratosis congenita,X-linked recessive,characterized by early reticulate skin pigmentation,nail dystrophy,mucosal leukoplakia and progressive bone-marrow failure,including any form of Bloch Sulzberger incontinentia pigmenti and an increased susceptibility to a range of malignancies,including Hoyeraal-Hreidarsson syndrome,X-linked recessive,aplastic anemia,immunodeficiency,microcephaly,cerebellar hypoplasia and growth retardation

Additional Disease Information for DKC1

Genetic Association Database
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Human Genome Epidemiology Navigator
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ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for DKC1 Gene

  1. 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
  2. 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
  3. Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. (PMID: 19734544) Grozdanov PN … Meier UT (Human molecular genetics 2009) 3 4 22 58
  4. SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs. (PMID: 19383767) Grozdanov PN … Meier UT (RNA (New York, N.Y.) 2009) 3 4 22 58
  5. 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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