Details for: DKC1

Gene ID: 1736

Symbol: DKC1

Ensembl ID: ENSG00000130826

Description: dyskerin pseudouridine synthase 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 2.35
    Marker Score: 2097
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 2
    Marker Score: 2869
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.96
    Marker Score: 2047.5
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.84
    Marker Score: 1229
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.76
    Marker Score: 1196
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.72
    Marker Score: 7036
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.43
    Marker Score: 3489
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.43
    Marker Score: 1435
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.31
    Marker Score: 1403
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.31
    Marker Score: 983
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.3
    Marker Score: 416
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 1.3
    Marker Score: 786
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.27
    Marker Score: 1595
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.26
    Marker Score: 1328
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.23
    Marker Score: 2917
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.22
    Marker Score: 3315.5
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.19
    Marker Score: 4663
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.19
    Marker Score: 2476
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 1.14
    Marker Score: 827
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.13
    Marker Score: 1178
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.13
    Marker Score: 5560
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.11
    Marker Score: 1043
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.09
    Marker Score: 1362
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.08
    Marker Score: 1152
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.07
    Marker Score: 363
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.07
    Marker Score: 10827
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.07
    Marker Score: 2428
  • Cell Name: hematopoietic precursor cell (CL0008001)
    Fold Change: 1.07
    Marker Score: 373
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.06
    Marker Score: 1408
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.05
    Marker Score: 302
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.05
    Marker Score: 521
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.04
    Marker Score: 1479
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.03
    Marker Score: 8903
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.03
    Marker Score: 35606
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.03
    Marker Score: 651
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.02
    Marker Score: 1499
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.02
    Marker Score: 1095
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1
    Marker Score: 3708
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71654
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47874
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 0.99
    Marker Score: 625
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 0.99
    Marker Score: 778
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.99
    Marker Score: 673
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.98
    Marker Score: 671
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30384
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.98
    Marker Score: 544
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.97
    Marker Score: 10966
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.97
    Marker Score: 512
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.97
    Marker Score: 240
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.97
    Marker Score: 823
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 0.95
    Marker Score: 1661
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.95
    Marker Score: 285
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.95
    Marker Score: 465
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.94
    Marker Score: 236
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2386
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.94
    Marker Score: 625
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.93
    Marker Score: 460
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.93
    Marker Score: 584
  • Cell Name: centrocyte (CL0009111)
    Fold Change: 0.93
    Marker Score: 221
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.92
    Marker Score: 977
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.92
    Marker Score: 487
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.91
    Marker Score: 962
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.91
    Marker Score: 471
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5184
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.91
    Marker Score: 517
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.9
    Marker Score: 427
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.89
    Marker Score: 237
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.89
    Marker Score: 2679
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.89
    Marker Score: 257
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.89
    Marker Score: 518
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.88
    Marker Score: 2406
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.88
    Marker Score: 925
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.88
    Marker Score: 1561
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.86
    Marker Score: 1959
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.86
    Marker Score: 1360
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.85
    Marker Score: 2533
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.85
    Marker Score: 1372
  • Cell Name: eurydendroid cell (CL0000253)
    Fold Change: 0.85
    Marker Score: 348
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.85
    Marker Score: 469
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 305
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 0.85
    Marker Score: 11368
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.84
    Marker Score: 3247
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.84
    Marker Score: 3608
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.83
    Marker Score: 1369
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.83
    Marker Score: 28162
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.81
    Marker Score: 238
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.81
    Marker Score: 336
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 0.81
    Marker Score: 613
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.8
    Marker Score: 9342
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.8
    Marker Score: 319
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.79
    Marker Score: 579
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 0.79
    Marker Score: 274
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.79
    Marker Score: 186
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.79
    Marker Score: 1572
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.78
    Marker Score: 187
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.78
    Marker Score: 294
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.78
    Marker Score: 5770
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: 0.77
    Marker Score: 424

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Other Information

**Key characteristics:** * The DKC1 gene is located on chromosome 18q21.1. * It is a large gene with a length of approximately 13.5 kb. * DKC1 is a member of the DKC1 family of pseudouridine synthases. * It is expressed in a variety of cell types, including extravillous trophoblast, oogonial cell, erythroid progenitor cell, skeletal muscle satellite cell, proerythroblast, pro-T cell, basal cell of prostate epithelium, fraction A pre-pro B cell, skeletal muscle satellite stem cell, and primitive red blood cell. **Pathways and functions:** * DKC1 is involved in the following pathways and functions: * Box h/aca snorna binding * Cell cycle * Chromosome maintenance * Enzyme-directed rna pseudouridine synthesis * Extension of telomeres * Metabolism of rna * Protein binding * Pseudouridine synthase activity * Rna binding * Rrna modification in the nucleus and cytosol * Rrna processing * Rrna processing in the nucleus and cytosol * Telomerase activity * Telomerase rna binding * Telomere extension by telomerase * Telomere maintenance **Clinical significance:** * Mutations in the DKC1 gene have been linked to several human diseases, including cancer, developmental disorders, and cardiovascular disease. * Studies of DKC1 function have implications for understanding and treating these diseases.

Genular Protein ID: 3939861223

Symbol: DKC1_HUMAN

Name: H/ACA ribonucleoprotein complex subunit DKC1

UniProtKB Accession Codes:

O60832 F5BSB3 O43845 Q96G67 Q9Y505

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChEBI 2 ChiTaRS 1 ComplexPortal 1 DIP 1 DNASU 1 DisGeNET 1 EMBL 24 EMDB 4 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 30 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 4 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 3 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 3 Rhea 3 SAM 1 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SWISS-2DPAGE 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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:

A0A8Q3SIY6

Database IDs:

ARBA 3 CDD 2 CTD 1 EMBL 1 EPD 1 Ensembl 2 GO 6 Gene3D 2 GeneTree 1 HGNC 1 InterPro 9 MaxQB 1 NCBI Taxonomy 1 NCBIfam 2 PANTHER 2 PROSITE 1 Pfam 4 Proteomes 2 RefSeq 1 SAM 1 SMART 4 SMR 1 SUPFAM 2

Citations:

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. For the full schema, download it here.