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 n... See more...

Aliases for DKC1 Gene

Aliases for DKC1 Gene

  • Dyskerin Pseudouridine Synthase 1 2 3 5
  • H/ACA Ribonucleoprotein Complex Subunit DKC1 3 4
  • 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 52
  • 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 Hoyeraal Hreidarsson Syndrome. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include pseudouridine synthase activity.

UniProtKB/Swiss-Prot Summary for DKC1 Gene

  • [Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534).
  • [Isoform 3]: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression.

Gene Wiki entry for DKC1 Gene

Additional gene information for DKC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DKC1 Gene

Genomics for DKC1 Gene

GeneHancer (GH) Regulatory Elements for DKC1 Gene

Promoters and enhancers for DKC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DKC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DKC1

Top Transcription factor binding sites by QIAGEN in the DKC1 gene promoter:
  • HSF2
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C

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)
Size:
14,934 bases
Orientation:
Plus strand

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 DKC1
    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 (PubMed:15044956). 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 (PubMed:15044956). The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within the RNA substrate (PubMed:15044956). During assembly, the complex contains NAF1 instead of GAR1/NOLA1 (PubMed:16601202, PubMed:16618814). 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 (PubMed:15044956). 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 (PubMed:15044956). Component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC) (PubMed:11074001, PubMed:19179534, PubMed:20351177, PubMed:29695869). The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1 (PubMed:19179534). 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 (PubMed:19734544, PubMed:19383767). Interacts with HMBOX1 (PubMed:23685356). Interacts with DHX36 (PubMed:21846770).

    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 Lys39, Lys80, Lys151, Lys191, Lys302, and Lys394
  • Modification sites at PhosphoSitePlus

Domains & Families for DKC1 Gene

Gene Families for DKC1 Gene

Protein Domains for DKC1 Gene

Suggested Antigen Peptide Sequences for DKC1 Gene

GenScript: Design optimal peptide antigens:
  • snoRNP protein DKC1 (DKC1_HUMAN)
  • Dyskeratosis congenita 1 isoform 3 (F5BSB3_HUMAN)
  • Dyskerin (O95940_HUMAN)

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

UniProtKB/Swiss-Prot Function:
[Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674). This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 (PubMed:25219674). Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance (PubMed:19179534, PubMed:25219674). Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme (PubMed:19179534).
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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=uridine in 5S rRNA = pseudouridine in 5S rRNA; Xref=Rhea:RHEA:47036, Rhea:RHEA-COMP:11730, Rhea:RHEA-COMP:11731, ChEBI:CHEBI:65314, ChEBI:CHEBI:65315; Evidence=. ;.
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

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 IMP 25219674
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:
  • Dkc1 Dkc1<tm1.1Pjma>
  • Dkc1 Dkc1<tm1.1Bsl>
  • Dkc1 Dkc1<tm2.1Bsl>

Animal Model Products

CRISPR Products

miRNA for DKC1 Gene

miRTarBase miRNAs that target DKC1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DKC1

Clone Products

  • Addgene plasmids for DKC1

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). {ECO:0000250 UniProtKB:P40615}.
[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
cytosol 3
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (3)
  • Nucleoplasm (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 Qiagen pathway for DKC1 Gene
  • Telomerase Components in Cell Signaling
1 Cell Signaling Technology pathway for DKC1 Gene

Gene Ontology (GO) - Biological Process for DKC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000455 enzyme-directed rRNA pseudouridine synthesis IMP 25219674
GO:0000495 box H/ACA snoRNA 3'-end processing IBA 21873635
GO:0001522 pseudouridine synthesis IEA --
GO:0006364 rRNA processing TAS 10556300
GO:0006396 RNA processing TAS 9590285
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
  • (1S)-1,4-anhydro-1-(2,4-dioxo-1,2,3,4-Tetrahydropyrimidin-5-yl)-D-ribitol
  • 5-(beta-D-Ribofuranosyl)uracil
  • beta-Pseudouridine
  • p
  • Psi-uridine
1445-07-4
genes like me logo Genes that share compounds with DKC1: view

Transcripts for DKC1 Gene

mRNA/cDNA for DKC1 Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DKC1

Clone Products

  • Addgene plasmids for DKC1

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

Expression for DKC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for DKC1 Gene



Protein tissue co-expression partners for DKC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 98.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 91 (a)
OneToMany
DKC1 30
  • 89.3 (n)
-- 31
  • 81 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Dkc1 17 31 30
  • 88.91 (n)
cow
(Bos Taurus)
Mammalia DKC1 31 30
  • 88.27 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Dkc1 30
  • 74.08 (n)
oppossum
(Monodelphis domestica)
Mammalia DKC1 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves DKC1 31 30
  • 76.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DKC1 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dkc1 30
  • 72.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.21410 30
zebrafish
(Danio rerio)
Actinopterygii dkc1 31 30
  • 73.13 (n)
OneToOne
wufa28f10 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12154 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004739 30
  • 64.84 (n)
fruit fly
(Drosophila melanogaster)
Insecta Nop60B 31 32 30
  • 64.71 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K01G5.5 31 32 30
  • 61.79 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AAL007C 30
  • 63.16 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CBF5 33 31 30
  • 61.48 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04796g 30
  • 60.89 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons NAP57 30
  • 63.05 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9629 30
rice
(Oryza sativa)
Liliopsida Os07g0636000 30
  • 61.89 (n)
Os.13464 30
wheat
(Triticum aestivum)
Liliopsida Ta.9549 30
corn
(Zea mays)
Liliopsida Zm.10393 30
barley
(Hordeum vulgare)
Liliopsida Hv.3884 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2418 31
  • 66 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cbf5 30
  • 63.74 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU01290 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DKC1: view image

Paralogs for DKC1 Gene

No data available for Paralogs for DKC1 Gene

Variants for DKC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DKC1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
11590 Pathogenic: Dyskeratosis congenita X-linked 154,763,573(+) C/G INTRON_VARIANT
696852 Benign: not provided 154,776,279(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
697116 Likely Benign: not provided 154,774,613(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
697360 Likely Benign: not provided 154,775,228(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
697598 Likely Benign: not provided 154,776,831(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for DKC1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DKC1 Gene

MalaCards: The human disease database

(31) MalaCards diseases for DKC1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dyskeratosis congenita, x-linked
  • hhs
hoyeraal hreidarsson syndrome
  • cerebellar hypoplasia with pancytopenia
dyskeratosis congenita
  • zinsser-cole-engman syndrome
leukoplakia
revesz syndrome
  • dyskeratosis congenita, autosomal dominant 5; dkca5
- 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:21602826, ECO:0000269 PubMed:25219674, ECO:0000269 PubMed:9590285}. Note=The disease is caused by mutations affecting the gene represented in this entry. Reduced rRNA pseudouridine levels in cells from patients (PubMed:25219674). {ECO:0000269 PubMed:25219674}.
  • 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  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 23 54
  3. Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita. (PMID: 19734544) Grozdanov PN … Meier UT (Human molecular genetics 2009) 3 4 23 54
  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 23 54
  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 23 54

Products for DKC1 Gene

  • Boster Bio Antibodies for DKC1
  • Boster Bio ELISA Kits for DKC1

Sources for DKC1 Gene