DKC1 Dyskerin Pseudouridine Synthase 1 [ (human)] - NCBI

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Create FileAdd to ClipboardAdd to Collections DKC1 dyskerin pseudouridine synthase 1 [ Homo sapiens (human) ] Gene ID: 1736, updated on 15-Feb-2026 Gene Sequences (FASTA) Transcript sequences (FASTA) Protein sequences(FASTA)

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Summary

Go to the top of the page Help Official Symbol DKC1provided by HGNC Official Full Name dyskerin pseudouridine synthase 1provided by HGNC Primary source HGNC:HGNC:2890 See related Ensembl:ENSG00000130826 MIM:300126; AllianceGenome:HGNC:2890 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DKC; CBF5; DKCX; NAP57; NOLA4; CHINE1; XAP101 Summary 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] Expression Ubiquitous expression in bone marrow (RPKM 13.6), lymph node (RPKM 11.6) and 25 other tissues See more Orthologs all Try the new Gene page Try the new Transcripts and proteins table

Genomic context

Go to the top of the page Help See DKC1 in Genome Data Viewer Location: Xq28 Exon count: 14
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (154762864..154777689)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152999274..153014101)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153991139..154005964)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence: NC_000023.11 Chromosome X Reference GRCh38.p14 Primary Assembly NG_009780.1 RefSeqGene NC_060947.1 Chromosome X Alternate T2T-CHM13v2.0 NC_000023.10 Chromosome X Reference GRCh37.p13 Primary Assembly NW_003871103.3 Chromosome X Reference GRCh37.p13 PATCHES

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help See details Tissue-specific circular RNA induction during human fetal development RNA sequencing of total RNA from 20 human tissues HPA RNA-seq normal tissues
  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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Related articles in PubMed

  1. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. Parry EM, et al. J Med Genet, 2011 May. PMID 21415081, Free PMC Article
  2. Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects. Brault ME, et al. Hum Mol Genet, 2013 Sep 1. PMID 23660516
  3. DKC1 gene mutations in human sporadic cancer. Penzo M, et al. Histol Histopathol, 2013 Mar. PMID 23348390
  4. Dyskerin overexpression in human hepatocellular carcinoma is associated with advanced clinical stage and poor patient prognosis. Liu B, et al. PLoS One, 2012. PMID 22912812, Free PMC Article
  5. LncRNA PCAT1 Interacts with DKC1 to Regulate Proliferation, Invasion and Apoptosis in NSCLC Cells via the VEGF/AKT/Bcl2/Caspase9 Pathway. Liu SY, et al. Cell Transplant, 2021 Jan-Dec. PMID 33461333, Free PMC Article

See all (298) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identifying and validating the roles of the cuproptosis-related gene DKC1 in cancer with a focus on esophageal carcinoma. Title: Identifying and validating the roles of the cuproptosis-related gene DKC1 in cancer with a focus on esophageal carcinoma.
  2. DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6. Title: DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6.
  3. A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker. Title: A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker.
  4. AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1. Title: AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1.
  5. New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond. Title: New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond.
  6. Evidence from a meta-analysis for the prognostic and clinicopathological importance of DKC1 in malignancies. Title: Evidence from a meta-analysis for the prognostic and clinicopathological importance of DKC1 in malignancies.
  7. Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13. Title: Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.
  8. Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence. Title: Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence.
  9. Pseudogene fms-related tyrosine kinase 1 pseudogene 1 (FLT1P1) cooperates with RNA binding protein dyskeratosis congenita 1 (DKC1) to restrain trophoblast cell proliferation and angiogenesis by targeting fms-related tyrosine kinase 1 (FLT1) in preeclampsia. Title: Pseudogene fms-related tyrosine kinase 1 pseudogene 1 (FLT1P1) cooperates with RNA binding protein dyskeratosis congenita 1 (DKC1) to restrain trophoblast cell proliferation and angiogenesis by targeting fms-related tyrosine kinase 1 (FLT1) in preeclampsia.
  10. Dual Inhibition of DKC1 and MEK1/2 Synergistically Restrains the Growth of Colorectal Cancer Cells. Title: Dual Inhibition of DKC1 and MEK1/2 Synergistically Restrains the Growth of Colorectal Cancer Cells.
Submit: New GeneRIF Correction See all GeneRIFs (80)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 MedGen: C5829571 OMIM: 301108 GeneReviews: Not available Compare labs
Dyskeratosis congenita, X-linked MedGen: C1148551 OMIM: 305000 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders Compare labs
Hoyeraal-Hreidarsson syndrome MedGen: C1846142 GeneReviews: Not available Compare labs

Copy number response

Description
Copy number responseTriplosensitivity

No evidence available (Last evaluated 2023-06-14)

ClinGen Genome Curation PageHaploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2023-06-14)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of dyskeratosis congenita 1, dyskerin (DKC1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

  • ECD08242 (e-PCR)
    • UniSTS:289290
  • ECD18018 (e-PCR)
    • UniSTS:299029
  • IB1223 (e-PCR)
    • UniSTS:64040
  • ECD11405 (e-PCR)
    • UniSTS:292441
  • stSG604276 (e-PCR)
    • UniSTS:447593
  • ECD07325 (e-PCR)
    • UniSTS:288380
  • ECD18896 (e-PCR)
    • UniSTS:299906
  • ECD10168 (e-PCR)
    • UniSTS:291208
  • REN90571 (e-PCR)
    • UniSTS:415369
  • REN90572 (e-PCR)
    • UniSTS:415370
  • REN90573 (e-PCR)
    • UniSTS:415371
  • REN90574 (e-PCR)
    • UniSTS:415372
  • REN90575 (e-PCR)
    • UniSTS:415373
  • REN90576 (e-PCR)
    • UniSTS:415374
  • REN90577 (e-PCR)
    • UniSTS:415375
  • ECD15062 (e-PCR)
    • UniSTS:296079
  • REN90578 (e-PCR)
    • UniSTS:415376
  • ECD15063 (e-PCR)
    • UniSTS:296080
  • REN90579 (e-PCR)
    • UniSTS:415377
  • REN90580 (e-PCR)
    • UniSTS:415378
  • REN90581 (e-PCR)
    • UniSTS:415379
  • REN90582 (e-PCR)
    • UniSTS:415380
  • REN90583 (e-PCR)
    • UniSTS:415381
  • REN90584 (e-PCR)
    • UniSTS:415382
  • REN90585 (e-PCR)
    • UniSTS:415383
  • REN90586 (e-PCR)
    • UniSTS:415384
  • REN90587 (e-PCR)
    • UniSTS:415385
  • REN90588 (e-PCR)
    • UniSTS:415386
  • ECD11985 (e-PCR)
    • UniSTS:293018
  • REN90589 (e-PCR)
    • UniSTS:415387
  • REN90590 (e-PCR)
    • UniSTS:415388
  • REN90591 (e-PCR)
    • UniSTS:415389
  • REN90592 (e-PCR)
    • UniSTS:415390
  • REN90593 (e-PCR)
    • UniSTS:415391
  • REN90594 (e-PCR)
    • UniSTS:415392
  • REN90595 (e-PCR)
    • UniSTS:415393
  • REN90596 (e-PCR)
    • UniSTS:415394
  • REN90597 (e-PCR)
    • UniSTS:415395
  • REN90598 (e-PCR)
    • UniSTS:415396
  • REN90599 (e-PCR)
    • UniSTS:415397
  • REN90600 (e-PCR)
    • UniSTS:415398
  • REN90601 (e-PCR)
    • UniSTS:415399
  • REN90602 (e-PCR)
    • UniSTS:415400
  • REN90603 (e-PCR)
    • UniSTS:415401
  • REN90604 (e-PCR)
    • UniSTS:415402
  • REN90605 (e-PCR)
    • UniSTS:415403
  • REN90606 (e-PCR)
    • UniSTS:415404
  • REN90607 (e-PCR)
    • UniSTS:415405
  • REN90608 (e-PCR)
    • UniSTS:415406
  • REN90609 (e-PCR)
    • UniSTS:415407
  • ECD09694 (e-PCR)
    • UniSTS:290735
  • REN90610 (e-PCR)
    • UniSTS:415408
  • REN90611 (e-PCR)
    • UniSTS:415409
  • ECD09953 (e-PCR)
    • UniSTS:290993
  • REN90612 (e-PCR)
    • UniSTS:415410
  • REN90613 (e-PCR)
    • UniSTS:415411
  • ECD00413 (e-PCR)
    • UniSTS:281524
  • REN90614 (e-PCR)
    • UniSTS:415412
  • REN90615 (e-PCR)
    • UniSTS:415413
  • REN90616 (e-PCR)
    • UniSTS:415414
  • REN90617 (e-PCR)
    • UniSTS:415415
  • REN90618 (e-PCR)
    • UniSTS:415416
  • REN90619 (e-PCR)
    • UniSTS:415417
  • REN90620 (e-PCR)
    • UniSTS:415418
  • REN90621 (e-PCR)
    • UniSTS:415419
  • REN90622 (e-PCR)
    • UniSTS:415420
  • REN90623 (e-PCR)
    • UniSTS:415421
  • REN90624 (e-PCR)
    • UniSTS:415422
  • REN90625 (e-PCR)
    • UniSTS:415423
  • REN90626 (e-PCR)
    • UniSTS:415424
  • REN90627 (e-PCR)
    • UniSTS:415425
  • REN90628 (e-PCR)
    • UniSTS:415426
  • REN90629 (e-PCR)
    • UniSTS:415427
  • REN90630 (e-PCR)
    • UniSTS:415428
  • REN90631 (e-PCR)
    • UniSTS:415429
  • REN90632 (e-PCR)
    • UniSTS:415430
  • REN90633 (e-PCR)
    • UniSTS:415431
  • REN90634 (e-PCR)
    • UniSTS:415432
  • REN90635 (e-PCR)
    • UniSTS:415433
  • REN90636 (e-PCR)
    • UniSTS:415434
  • REN90637 (e-PCR)
    • UniSTS:415435
  • REN90638 (e-PCR)
    • UniSTS:415436
  • REN90639 (e-PCR)
    • UniSTS:415437
  • ECD13062 (e-PCR)
    • UniSTS:294093
  • REN90640 (e-PCR)
    • UniSTS:415438
  • ECD14101 (e-PCR)
    • UniSTS:295126
  • A004F19 (e-PCR)
    • UniSTS:4842
  • ECD06413 (e-PCR)
    • UniSTS:287473
  • ECD06938 (e-PCR)
    • UniSTS:287996
  • ECD11313 (e-PCR)
    • UniSTS:292349

Homology

  • NCBI Orthologs
    • Orthologs from OrthoDB

Clone Names

  • FLJ97620

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA more info PubMed 
enables RNA binding IEA Inferred from Electronic Annotationmore info  
enables RNA binding IPI Inferred from Physical Interactionmore info PubMed 
enables RNA binding TAS Traceable Author Statementmore info PubMed 
enables box H/ACA snoRNA binding IPI Inferred from Physical Interactionmore info PubMed 
enables isomerase activity IEA Inferred from Electronic Annotationmore info  
enables protein binding IPI Inferred from Physical Interactionmore info PubMed 
enables pseudouridine synthase activity IBA Inferred from Biological aspect of Ancestormore info  
enables pseudouridine synthase activity IEA Inferred from Electronic Annotationmore info  
enables pseudouridine synthase activity IMP Inferred from Mutant Phenotypemore info PubMed 
enables telomerase RNA binding IPI Inferred from Physical Interactionmore info PubMed 
contributes_to telomerase activity IDA Inferred from Direct Assaymore info PubMed 
enables telomerase activity IDA Inferred from Direct Assaymore info PubMed 
Process Evidence Code Pubs
involved_in RNA modification IEA Inferred from Electronic Annotationmore info  
involved_in RNA processing IEA Inferred from Electronic Annotationmore info  
involved_in RNA processing TAS Traceable Author Statementmore info PubMed 
involved_in box H/ACA sno(s)RNA 3'-end processing IBA Inferred from Biological aspect of Ancestormore info  
involved_in enzyme-directed rRNA pseudouridine synthesis IMP Inferred from Mutant Phenotypemore info PubMed 
involved_in mRNA pseudouridine synthesis IBA Inferred from Biological aspect of Ancestormore info  
involved_in positive regulation of telomerase RNA localization to Cajal body IMP Inferred from Mutant Phenotypemore info PubMed 
acts_upstream_of positive regulation of telomere maintenance via telomerase IDA Inferred from Direct Assaymore info PubMed 
acts_upstream_of positive regulation of telomere maintenance via telomerase IMP Inferred from Mutant Phenotypemore info PubMed 
acts_upstream_of_or_within protein localization to Cajal body HMP more info PubMed 
involved_in pseudouridine synthesis IEA Inferred from Electronic Annotationmore info  
involved_in rRNA processing IEA Inferred from Electronic Annotationmore info  
involved_in rRNA processing TAS Traceable Author Statementmore info PubMed 
involved_in rRNA pseudouridine synthesis IBA Inferred from Biological aspect of Ancestormore info  
involved_in rRNA pseudouridine synthesis IEA Inferred from Electronic Annotationmore info  
involved_in regulation of telomerase RNA localization to Cajal body IMP Inferred from Mutant Phenotypemore info PubMed 
involved_in ribosome biogenesis IEA Inferred from Electronic Annotationmore info  
acts_upstream_of_or_within scaRNA localization to Cajal body IMP Inferred from Mutant Phenotypemore info PubMed 
involved_in snRNA pseudouridine synthesis IBA Inferred from Biological aspect of Ancestormore info  
involved_in telomerase RNA stabilization IMP Inferred from Mutant Phenotypemore info PubMed 
involved_in telomere maintenance via telomerase IDA Inferred from Direct Assaymore info PubMed 
involved_in telomere maintenance via telomerase IMP Inferred from Mutant Phenotypemore info PubMed 
involved_in telomere maintenance via telomerase NAS Non-traceable Author Statementmore info PubMed 
involved_in telomere maintenance via telomerase TAS Traceable Author Statementmore info PubMed 
Component Evidence Code Pubs
located_in Cajal body IEA Inferred from Electronic Annotationmore info  
part_of box H/ACA scaRNP complex TAS Traceable Author Statementmore info PubMed 
part_of box H/ACA snoRNP complex IBA Inferred from Biological aspect of Ancestormore info  
part_of box H/ACA snoRNP complex IDA Inferred from Direct Assaymore info PubMed 
part_of box H/ACA snoRNP complex TAS Traceable Author Statementmore info PubMed 
part_of box H/ACA telomerase RNP complex IDA Inferred from Direct Assaymore info PubMed 
part_of box H/ACA telomerase RNP complex TAS Traceable Author Statementmore info PubMed 
located_in cytoplasm IEA Inferred from Electronic Annotationmore info  
located_in fibrillar center IDA Inferred from Direct Assaymore info  
located_in nucleolus IEA Inferred from Electronic Annotationmore info  
located_in nucleolus TAS Traceable Author Statementmore info PubMed 
located_in nucleoplasm IDA Inferred from Direct Assaymore info  
located_in nucleoplasm TAS Traceable Author Statementmore info PubMed 
located_in nucleus IDA Inferred from Direct Assaymore info  
part_of ribonucleoprotein complex IEA Inferred from Electronic Annotationmore info  
part_of telomerase holoenzyme complex IDA Inferred from Direct Assaymore info PubMed 
part_of telomerase holoenzyme complex TAS Traceable Author Statementmore info PubMed 

General protein information

Go to the top of the page Help Preferred Names H/ACA ribonucleoprotein complex subunit DKC1 Names CBF5 homolog H/ACA ribonucleoprotein complex subunit 4 dyskeratosis congenita 1, dyskerin nopp140-associated protein of 57 kDa nucleolar protein NAP57 nucleolar protein family A member 4 snoRNP protein DKC1 NP_001135935.1
  • EC 5.4.99.-
NP_001275676.1
  • EC 5.4.99.-
NP_001354.1
  • EC 5.4.99.-

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_009780.1 RefSeqGene

    Range 4987..19934 Download GenBank, FASTA, Sequence Viewer (Graphics), LRG_55

mRNA and Protein(s)

  1. NM_001142463.3 → NP_001135935.1  H/ACA ribonucleoprotein complex subunit DKC1 isoform 2

    Status: REVIEWED

    Description Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1. Source sequence(s) AC109993 Consensus CDS CCDS94705.1 UniProtKB/TrEMBL A0A8Q3SIY6, A0A8Q3WLC8 Related ENSP00000512730.1, ENST00000696575.1 Conserved Domains (4) summary cd02572Location:88 → 270 PseudoU_synth_hDyskerin; Pseudouridine synthase, human dyskerin like TIGR00425Location:56 → 381 CBF5; rRNA pseudouridine synthase, putative pfam01472Location:297 → 370 PUA; PUA domain pfam08068Location:49 → 106 DKCLD; DKCLD (NUC011) domain

  2. NM_001288747.2 → NP_001275676.1  H/ACA ribonucleoprotein complex subunit DKC1 isoform 3

    See identical proteins and their annotated locations for NP_001275676.1

    Status: REVIEWED

    Description Transcript Variant: This variant (3) uses an alternate 3' exon structure, which results in an early stop codon, compared to variant 1. The resulting protein (isoform 3) has a distinct C-terminus, compared to isoform 1 (PMID: 21820037). Source sequence(s) AC109993 UniProtKB/TrEMBL A0A8Q3SIX2 Related ENST00000620277.4 Conserved Domains (1) summary cl27547Location:56 → 381 TruB_N; TruB family pseudouridylate synthase (N terminal domain)

  3. NM_001363.5 → NP_001354.1  H/ACA ribonucleoprotein complex subunit DKC1 isoform 1

    See identical proteins and their annotated locations for NP_001354.1

    Status: REVIEWED

    Description Transcript Variant: This variant (1) encodes the longest isoform (1). Source sequence(s) AC109993 Consensus CDS CCDS14761.1 UniProtKB/Swiss-Prot F5BSB3, O43845, O60832, Q96G67, Q9Y505 UniProtKB/TrEMBL A0A8Q3WLC8 Related ENSP00000358563.5, ENST00000369550.10 Conserved Domains (1) summary TIGR00425Location:56 → 381 CBF5; rRNA pseudouridine synthase, putative

RNA

  1. NR_110021.2 RNA Sequence

    Status: REVIEWED

    Description Transcript Variant: This variant (4) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, may render the transcript a candidate for nonsense-mediated mRNA decay (NMD). PMID: 24219293 indicates that this transcript may not be down-regulated by NMD; however, the potential to encode a truncated, but stable and functional protein has not been demonstrated. Source sequence(s) AC109993 Related ENST00000696584.1

  2. NR_110022.2 RNA Sequence

    Status: REVIEWED

    Description Transcript Variant: This variant (5) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, may render the transcript a candidate for nonsense-mediated mRNA decay (NMD). PMID: 24219293 indicates that this transcript may not be down-regulated by NMD; however, the potential to encode a truncated, but stable and functional protein has not been demonstrated. Source sequence(s) AC109993 Related ENST00000696585.1

  3. NR_110023.2 RNA Sequence

    Status: REVIEWED

    Description Transcript Variant: This variant (6) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, may render the transcript a candidate for nonsense-mediated mRNA decay (NMD). PMID: 24219293 indicates that this transcript may not be down-regulated by NMD; however, the potential to encode a truncated, but stable and functional protein has not been demonstrated. Source sequence(s) AC109993 Related ENST00000696582.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range 154762864..154777689 Download GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range 152999274..153014101 Download GenBank, FASTA, Sequence Viewer (Graphics)
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Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O60832.3 GenPept UniProtKB/Swiss-Prot:O60832
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Locus-specific Databases

  • DKC1 @ LOVD
  • DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome
  • Telomerase Database

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
  • Interologous Interaction Database
    • Interologous Interaction Database
  • MilliporeSigma
    • DKC1 products
Medical
  • MedlinePlus Health Information
    • DKC1 gene
Molecular Biology Databases
  • Bgee database
    • DKC1 gene expression
  • BioGPS
    • BioGPS
  • BioGRID Open Repository of CRISPR Screens (ORCS)
    • BioGRID CRISPR Screen Phenotypes (457 hits/991 screens)
  • Domain Mapping of Disease Mutations
    • DKC1
  • Eukaryotic Promoter Database
    • DKC1_1
  • GlyGen glycoinformatics resource
    • GlyGen glycoinformatics resource
  • Human Gene Mutation Database
    • Human Gene Mutation Database
  • Human eFP Browser
    • Human eFP Browser
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    • GeneCard for DKC1
Research Materials
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  • GenScript latest version of gene cDNA ORF Clone
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    • Order shRNA clones
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    • Order GeneID 1736 cDNA Clone|Lysate|Protein|Antibody|RNAi
Tools
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    • GeneMANIA
Miscellaneous
  • Reactome
    • Reactome Event:Metabolism of RNA
    • Reactome Entity:O60832
    • Reactome Event:Cell Cycle
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Supplemental Content

Table of contents

  • Summary
  • Genomic context
  • Genomic regions, transcripts, and products
  • Expression
  • Bibliography
  • Phenotypes
  • Variation
  • HIV-1 interactions
  • Pathways from PubChem
  • Interactions
  • General gene information Markers, Clone Names, Homology, Gene Ontology
  • General protein information
  • NCBI Reference Sequences (RefSeq)
  • Related sequences
  • Additional links Locus-specific Databases

Genome Browsers

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Related information

  • 3D structures 3D structure of a gene
  • BioAssay by Target (List) BioAssays related to the gene by protein target or RNAi target
  • BioAssay by Target (Summary) Summarized PubChem Data on the gene, showing the active data by default
  • BioAssay, by Gene target PubChem BioAssays done on the Gene target
  • BioAssays, RNAi Target, Active BioAssays that contain the gene as the target of a RNAi reagent, which is identified as a hit in a RNAi screening and flagged as "active" in the corresponding BioAssay record
  • BioAssays, RNAi Target, Tested BioAssays that contain the gene as the target of a RNAi reagent
  • Books Books
  • ClinVar Related medical variations
  • Conserved Domains Related CDD
  • dbVar Link from Gene to dbVar
  • Full text in PMC PMC links
  • GAP GAP Links
  • Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side
  • Genome Related Genome
  • GEO Profiles Related GEO
  • GTR Tests for this gene in the NIH Genetic Testing Registry
  • MedGen Related information in MedGen
  • Nucleotide Link to related Nucleotide entry
  • OMIM Link to related OMIM entry
  • Protein Link to related protein entry
  • PubChem Compound PubChem Compounds
  • PubChem Substance PubChem Substances
  • PubMed Link to related PubMed entry
  • PubMed (GeneRIF) Link to related PubMed article from GeneRIFs
  • PubMed (OMIM) Gene links to PubMed derived from omim_pubmed_cited links
  • RefSeq Proteins Link to Protein RefSeqs
  • RefSeq RNAs Link to Nucleotide RefSeq RNAs
  • RefSeqGene Link to Nucleotide RefSeqGenes
  • Related gene-specific medical variations Related medical variations
  • SNP Related SNP records
  • Taxonomy Link to related taxonomy entry

Links to other resources

  • HGNC
  • Ensembl
  • AllianceGenome
  • AceView
  • DKC1 @ LOVD
  • DKC1base: Mutation registry for Hoyeraal-Hreidarsson syndrome
  • PharmGKB
  • Telomerase Database
  • UCSC
  • MGC
  • HuGE Navigator
  • KEGG
  • Reactome

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