Details for: DKC1

Gene ID: 1736

Symbol: DKC1

Ensembl ID: ENSG00000130826

Description: dyskerin pseudouridine synthase 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 105.6284
    Cell Significance Index: -16.4300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 79.4033
    Cell Significance Index: -32.7100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 66.9106
    Cell Significance Index: -31.5900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 63.1743
    Cell Significance Index: -25.6700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 59.3353
    Cell Significance Index: -15.0500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 57.6999
    Cell Significance Index: -29.6800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 46.8986
    Cell Significance Index: -31.4700
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 27.0806
    Cell Significance Index: -25.8600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 21.6877
    Cell Significance Index: -26.7400
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.8885
    Cell Significance Index: -26.4900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.3390
    Cell Significance Index: -28.9600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.3797
    Cell Significance Index: -19.6000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.9706
    Cell Significance Index: -8.6900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 2.3676
    Cell Significance Index: 385.0700
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 2.0086
    Cell Significance Index: 53.7300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.3772
    Cell Significance Index: 18.7900
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.2502
    Cell Significance Index: 9.4400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.1290
    Cell Significance Index: 30.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9741
    Cell Significance Index: 119.7800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.9427
    Cell Significance Index: 66.6700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.9263
    Cell Significance Index: 10.0700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.8812
    Cell Significance Index: 23.1700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8310
    Cell Significance Index: 53.6100
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: 0.8287
    Cell Significance Index: 5.2900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.7753
    Cell Significance Index: 26.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7475
    Cell Significance Index: 148.3500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7242
    Cell Significance Index: 130.5500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7068
    Cell Significance Index: 312.5000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6700
    Cell Significance Index: 92.0100
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.6609
    Cell Significance Index: 85.3900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6468
    Cell Significance Index: 353.2100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.6066
    Cell Significance Index: 28.5100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.5518
    Cell Significance Index: 38.1600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4949
    Cell Significance Index: 13.8300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.4564
    Cell Significance Index: 11.4100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.4514
    Cell Significance Index: 53.2300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4426
    Cell Significance Index: 22.9900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4266
    Cell Significance Index: 19.8900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3640
    Cell Significance Index: 27.1300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3019
    Cell Significance Index: 272.5800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2814
    Cell Significance Index: 5.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2775
    Cell Significance Index: 17.4900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2680
    Cell Significance Index: 34.3600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2467
    Cell Significance Index: 49.4800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2428
    Cell Significance Index: 7.0000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2184
    Cell Significance Index: 37.3000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.2042
    Cell Significance Index: 2.3200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.1917
    Cell Significance Index: 1.7700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1414
    Cell Significance Index: 6.4100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1090
    Cell Significance Index: 10.7800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1086
    Cell Significance Index: 38.9600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0508
    Cell Significance Index: 9.6600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0489
    Cell Significance Index: 33.8100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0338
    Cell Significance Index: 0.9700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0228
    Cell Significance Index: 0.8000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0134
    Cell Significance Index: 18.2700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0125
    Cell Significance Index: 0.3400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0106
    Cell Significance Index: 1.2100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0095
    Cell Significance Index: 7.1800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0040
    Cell Significance Index: 0.2100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0004
    Cell Significance Index: -0.5500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0024
    Cell Significance Index: -4.5100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0052
    Cell Significance Index: -3.8200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0057
    Cell Significance Index: -10.4800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.0061
    Cell Significance Index: -0.1800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0078
    Cell Significance Index: -4.8600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0136
    Cell Significance Index: -9.9500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0222
    Cell Significance Index: -0.7100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0237
    Cell Significance Index: -1.3300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0249
    Cell Significance Index: -15.8100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0282
    Cell Significance Index: -15.8800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0309
    Cell Significance Index: -0.7900
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0377
    Cell Significance Index: -0.8700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0391
    Cell Significance Index: -3.9900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0394
    Cell Significance Index: -0.8400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0498
    Cell Significance Index: -22.6200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0609
    Cell Significance Index: -12.8300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0905
    Cell Significance Index: -10.3700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1007
    Cell Significance Index: -14.6400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1052
    Cell Significance Index: -30.2700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1326
    Cell Significance Index: -15.4500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1404
    Cell Significance Index: -8.6300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2034
    Cell Significance Index: -15.6100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2108
    Cell Significance Index: -10.9800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2179
    Cell Significance Index: -4.7200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2265
    Cell Significance Index: -2.7000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2716
    Cell Significance Index: -28.2800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2966
    Cell Significance Index: -23.4900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3006
    Cell Significance Index: -20.2100
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: -0.3135
    Cell Significance Index: -2.0800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3155
    Cell Significance Index: -5.2800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3168
    Cell Significance Index: -3.2800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.3691
    Cell Significance Index: -2.2300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.3961
    Cell Significance Index: -7.0000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4326
    Cell Significance Index: -26.5300
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.4553
    Cell Significance Index: -14.4000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4837
    Cell Significance Index: -21.4000
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.5518
    Cell Significance Index: -4.5000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5707
    Cell Significance Index: -21.6100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.5723
    Cell Significance Index: -14.7100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** DKC1 is a pseudouridine synthase enzyme that is highly conserved across species, suggesting its essential role in maintaining telomere integrity. The enzyme is composed of two subunits, DKC1A and DKC1B, which are encoded by separate genes. DKC1A is the catalytic subunit, responsible for the synthesis of pseudouridine, while DKC1B is involved in the assembly and stability of the H/ACA RNP complex. The H/ACA RNP complex is a multiprotein complex that is essential for the processing and maturation of telomerase RNA and snRNAs. **Pathways and Functions:** DKC1 is involved in several critical pathways, including: 1. **Telomere Maintenance:** DKC1 plays a crucial role in the extension of telomeres by telomerase, a reverse transcriptase enzyme that adds nucleotides to the ends of chromosomes. DKC1 is required for the synthesis of pseudouridine, which is essential for the stability and function of telomerase RNA. 2. **RNA Processing:** DKC1 is involved in the processing and maturation of snRNAs, which are essential for the regulation of gene expression. DKC1 is required for the synthesis of pseudouridine, which is involved in the stability and function of snRNAs. 3. **Cell Cycle Regulation:** DKC1 is involved in the regulation of the cell cycle, particularly in the G2/M phase. Dysregulation of DKC1 has been implicated in cancer, where it can lead to uncontrolled cell proliferation. 4. **Chromosome Maintenance:** DKC1 is involved in the maintenance of chromosome structure and function. Dysregulation of DKC1 can lead to chromosomal instability and an increased risk of cancer. **Clinical Significance:** Dyskerin pseudouridine synthase 1 (DKC1) has been implicated in various diseases, including: 1. **Telomere Disorders:** DKC1 mutations have been associated with telomere disorders, such as dyskeratosis congenita and aplastic anemia. 2. **Cancer:** Dysregulation of DKC1 has been implicated in various types of cancer, including leukemia, lymphoma, and solid tumors. 3. **Premature Aging:** DKC1 mutations have been associated with premature aging, including progeroid syndromes. 4. **Genetic Disorders:** DKC1 mutations have been implicated in various genetic disorders, including congenital dyskeratosis and aplastic anemia. In conclusion, dyskerin pseudouridine synthase 1 (DKC1) is a critical regulator of telomere maintenance and RNA processing. Dysregulation of DKC1 has been implicated in various diseases, including telomere disorders, cancer, and premature aging. Further research is needed to fully understand the role of DKC1 in human disease and to develop therapeutic strategies for the treatment of DKC1-related disorders.

Genular Protein ID: 3939861223

Symbol: DKC1_HUMAN

Name: H/ACA ribonucleoprotein complex subunit DKC1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9590285

Title: X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

PubMed ID: 9590285

DOI: 10.1038/ng0598-32

PubMed ID: 10364516

Title: X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

PubMed ID: 10364516

DOI: 10.1086/302446

PubMed ID: 9888995

Title: Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene.

PubMed ID: 9888995

DOI: 10.1006/geno.1998.5600

PubMed ID: 21820037

Title: A new human dyskerin isoform with cytoplasmic localization.

PubMed ID: 21820037

DOI: 10.1016/j.bbagen.2011.07.012

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10556300

Title: Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.

PubMed ID: 10556300

DOI: 10.1093/hmg/8.13.2515

PubMed ID: 10591218

Title: A telomerase component is defective in the human disease dyskeratosis congenita.

PubMed ID: 10591218

DOI: 10.1038/990141

PubMed ID: 10903840

Title: Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.

PubMed ID: 10903840

DOI: 10.1006/geno.2000.6227

PubMed ID: 11074001

Title: Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10.

PubMed ID: 11074001

DOI: 10.1128/mcb.20.23.9028-9040.2000

PubMed ID: 12429849

Title: Functional proteomic analysis of human nucleolus.

PubMed ID: 12429849

DOI: 10.1091/mbc.e02-05-0271

PubMed ID: 15044956

Title: Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins.

PubMed ID: 15044956

DOI: 10.1038/sj.emboj.7600181

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 16618814

Title: Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells.

PubMed ID: 16618814

DOI: 10.1083/jcb.200601105

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 16601202

Title: hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase.

PubMed ID: 16601202

DOI: 10.1261/rna.2344106

PubMed ID: 17487921

Title: Toward a global characterization of the phosphoproteome in prostate cancer cells: identification of phosphoproteins in the LNCaP cell line.

PubMed ID: 17487921

DOI: 10.1002/elps.200600782

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 18318008

Title: Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography.

PubMed ID: 18318008

DOI: 10.1002/pmic.200700884

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19734544

Title: Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.

PubMed ID: 19734544

DOI: 10.1093/hmg/ddp416

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 19383767

Title: SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs.

PubMed ID: 19383767

DOI: 10.1261/rna.1532109

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19179534

Title: A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.

PubMed ID: 19179534

DOI: 10.1126/science.1165357

PubMed ID: 20351177

Title: Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo.

PubMed ID: 20351177

DOI: 10.1128/mcb.00151-10

PubMed ID: 10583221

Title: Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.

PubMed ID: 10583221

DOI: 10.1046/j.1365-2141.1999.01690.x

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21846770

Title: The DEAH-box RNA helicase RHAU binds an intramolecular RNA G-quadruplex in TERC and associates with telomerase holoenzyme.

PubMed ID: 21846770

DOI: 10.1093/nar/gkr630

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 23685356

Title: HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment.

PubMed ID: 23685356

DOI: 10.1038/emboj.2013.105

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25219674

Title: Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.

PubMed ID: 25219674

DOI: 10.1016/j.cell.2014.08.028

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25218447

Title: Uncovering global SUMOylation signaling networks in a site-specific manner.

PubMed ID: 25218447

DOI: 10.1038/nsmb.2890

PubMed ID: 25114211

Title: Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.

PubMed ID: 25114211

DOI: 10.1073/pnas.1413825111

PubMed ID: 25772364

Title: SUMO-2 orchestrates chromatin modifiers in response to DNA damage.

PubMed ID: 25772364

DOI: 10.1016/j.celrep.2015.02.033

PubMed ID: 25755297

Title: System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.

PubMed ID: 25755297

DOI: 10.1074/mcp.o114.044792

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 29695869

Title: Cryo-EM structure of substrate-bound human telomerase holoenzyme.

PubMed ID: 29695869

DOI: 10.1038/s41586-018-0062-x

PubMed ID: 12437656

Title: A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK-SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.

PubMed ID: 12437656

DOI: 10.1046/j.1365-2141.2002.03822.x

PubMed ID: 15304085

Title: Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.

PubMed ID: 15304085

DOI: 10.1111/j.0022-202x.2004.23228.x

PubMed ID: 17417794

Title: X-linked dyskeratosis congenita in Malaysia.

PubMed ID: 17417794

DOI: 10.1002/pbc.21203

PubMed ID: 18802941

Title: Identification of a novel mutation in DKC1 in dyskeratosis congenita.

PubMed ID: 18802941

DOI: 10.1002/pbc.21733

PubMed ID: 19879169

Title: Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.

PubMed ID: 19879169

DOI: 10.1016/j.bcmd.2009.10.005

PubMed ID: 21602826

Title: Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PubMed ID: 21602826

DOI: 10.1038/nature10084

PubMed ID: 24914498

Title: Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

PubMed ID: 24914498

DOI: 10.1016/j.gene.2014.06.011

PubMed ID: 32554502

Title: Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

PubMed ID: 32554502

DOI: 10.1073/pnas.2002328117

Sequence Information:

  • Length: 514
  • Mass: 57674
  • Checksum: 12474DBEEFEB471C
  • Sequence:
  • MADAEVIILP KKHKKKKERK SLPEEDVAEI QHAEEFLIKP ESKVAKLDTS QWPLLLKNFD 
    KLNVRTTHYT PLACGSNPLK REIGDYIRTG FINLDKPSNP SSHEVVAWIR RILRVEKTGH 
    SGTLDPKVTG CLIVCIERAT RLVKSQQSAG KEYVGIVRLH NAIEGGTQLS RALETLTGAL 
    FQRPPLIAAV KRQLRVRTIY ESKMIEYDPE RRLGIFWVSC EAGTYIRTLC VHLGLLLGVG 
    GQMQELRRVR SGVMSEKDHM VTMHDVLDAQ WLYDNHKDES YLRRVVYPLE KLLTSHKRLV 
    MKDSAVNAIC YGAKIMLPGV LRYEDGIEVN QEIVVITTKG EAICMAIALM TTAVISTCDH 
    GIVAKIKRVI MERDTYPRKW GLGPKASQKK LMIKQGLLDK HGKPTDSTPA TWKQEYVDYS 
    ESAKKEVVAE VVKAPQVVAE AAKTAKRKRE SESESDETPP AAPQLIKKEK KKSKKDKKAK 
    AGLESGAEPG DGDSDTTKKK KKKKKAKEVE LVSE

Genular Protein ID: 3886814375

Symbol: A0A8Q3SIY6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

Sequence Information:

  • Length: 509
  • Mass: 57032
  • Checksum: AED508A1B3D84D2F
  • Sequence:
  • MADAEVIILP KKHKKKKERK SLPEEDVAEI QHAEEFLIKP ESKVAKLDTS QWPLLLKNFD 
    KLNVRTTHYT PLACGSNPLK REIGDYIRTG FINLDKPSNP SSHEVVAWIR RILRVEKTGH 
    SGTLDPKVTG CLIVCIERAT RLVKSQQSAG KEYVGIVRLH NAIEGGTQLS RALETLTGAL 
    FQRPPLIAAV KRQLRVRTIY ESKMIEYDPE RRLGIFWVSC EAGTYIRTLC VHLGLLLGVG 
    GQMQELRRVR SGVMSEKDHM VTMHDVLDAQ WLYDNHKDES YLRRVVYPLE KLLTSHKRLV 
    MKDSAVNAIC YGAKIMLPGV LRYEDGIEVN QEIVVITTKG EAICMAIALM TTAVISTCDH 
    GIVAKIKRVI MERDTYPRKW GLGPKASQKK LMIKQGLLDK HGKPTDSTPA TWKQDESAKK 
    EVVAEVVKAP QVVAEAAKTA KRKRESESES DETPPAAPQL IKKEKKKSKK DKKAKAGLES 
    GAEPGDGDSD TTKKKKKKKK AKEVELVSE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.