• Gene id: 1736

Gene Summary

• Gene Symbol: DKC1   Gene   UCSC   Ensembl
• Aliases: CBF5, DKC, DKCX, NAP57, NOLA4, XAP101
• Gene name: dyskerin pseudouridine synthase 1
• Alternate names: H/ACA ribonucleoprotein complex subunit DKC1, 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,
• Gene location: Xq28 (43973389: 43948775)     Exons: 3     NC_000023.11
• Gene summary(Entrez): 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 nucle
• OMIM: 300126

Protein Summary

• Protein general information: O60832  
  • Name: H/ACA ribonucleoprotein complex subunit DKC1 (EC 5.4.99. ) (CBF5 homolog) (Dyskerin) (Nopp140 associated protein of 57 kDa) (Nucleolar protein NAP57) (Nucleolar protein family A member 4) (snoRNP protein DKC1)
  • Length: 514  
  • Mass: 57674
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFDKLNVRTTHYTPLACG
  SNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGHSGTLDPKVTGCLIVCIERATRLVKSQQSAG
  KEYVGIVRLHNAIEGGTQLSRALETLTGALFQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTY
  IRTLCVHLGLLLGVGGQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV
  MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDHGIVAKIKRVIMERDT
  YPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYSESAKKEVVAEVVKAPQVVAEAAKTAKRKRE
  SESESDETPPAAPQLIKKEKKKSKKDKKAKAGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE

• Structural information:
  • Protein Domains: (296..37-)
    (/note="PUA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00161"-)
  • Interpro: IPR012960  IPR020103  IPR002501  IPR002478  IPR015947   IPR004802  IPR032819  IPR004521  
  • Prosite: PS50890
  • DIP: 40645
  • STRING: ENSP00000358563
• Other Databases: GeneCards:  DKC1  Malacards:  DKC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009982	pseudouridine synthase activity	IBA	molecular function
GO:0031429	box H/ACA snoRNP complex	IBA	cellular component
GO:0000495	box H/ACA snoRNA 3'-end processing	IBA	biological process
GO:0031118	rRNA pseudouridine synthesis	IBA	biological process
GO:0031120	snRNA pseudouridine synthesis	IBA	biological process
GO:1990481	mRNA pseudouridine synthesis	IBA	biological process
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0000455	enzyme-directed rRNA pseudouridine synthesis	IMP	biological process
GO:0009982	pseudouridine synthase activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001522	pseudouridine synthesis	IEA	biological process
GO:0006396	RNA processing	IEA	biological process
GO:0009451	RNA modification	IEA	biological process
GO:0009982	pseudouridine synthase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0003723	RNA binding	TAS	molecular function
GO:0006364	rRNA processing	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:0006396	RNA processing	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0031118	rRNA pseudouridine synthesis	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0032212	positive regulation of telomere maintenance via telomerase	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0051973	positive regulation of telomerase activity	IEA	biological process
GO:0033979	box H/ACA snoRNA metabolic process	IEA	biological process
GO:0031118	rRNA pseudouridine synthesis	IEA	biological process
GO:0015030	Cajal body	IEA	cellular component
GO:0003720	telomerase activity	IDA	contributes to
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1904851	positive regulation of establishment of protein localization to telomere	IMP	biological process
GO:0051973	positive regulation of telomerase activity	IMP	biological process
GO:0090666	scaRNA localization to Cajal body	IMP	biological process
GO:1904871	positive regulation of protein localization to Cajal body	HMP	biological process
GO:0034513	box H/ACA snoRNA binding	IPI	molecular function
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:1904874	positive regulation of telomerase RNA localization to Cajal body	HMP	biological process
GO:0090669	telomerase RNA stabilization	IMP	biological process
GO:0090661	box H/ACA telomerase RNP complex	IDA	cellular component
GO:0031429	box H/ACA snoRNP complex	IDA	cellular component
GO:0072589	box H/ACA scaRNP complex	TAS	cellular component
GO:0005697	telomerase holoenzyme complex	TAS	cellular component
GO:0031429	box H/ACA snoRNP complex	TAS	cellular component
GO:0090661	box H/ACA telomerase RNP complex	TAS	cellular component
GO:0070034	telomerase RNA binding	IC	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:1904874	positive regulation of telomerase RNA localization to Cajal body	IMP	biological process
GO:0090669	telomerase RNA stabilization	IMP	biological process
GO:0007004	telomere maintenance via telomerase	IMP	biological process
GO:0090666	scaRNA localization to Cajal body	IMP	biological process
GO:0090666	scaRNA localization to Cajal body	IMP	biological process
GO:1904872	regulation of telomerase RNA localization to Cajal body	IMP	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0003720	telomerase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Dyskeratosis congenita	KEGG:H00507
Hoyeraal-Hreidarsson syndrome	KEGG:H00788
Dyskeratosis congenita	KEGG:H00507
Hoyeraal-Hreidarsson syndrome	KEGG:H00788
aplastic anemia	PMID:26360549
Dyskeratosis congenita	PMID:10583221
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)