• Gene id: 55505

Gene Summary

• Gene Symbol: NOP10   Gene   UCSC   Ensembl
• Aliases: DKCB1, NOLA3, NOP10P
• Gene name: NOP10 ribonucleoprotein
• Alternate names: H/ACA ribonucleoprotein complex subunit 3, NOP10 ribonucleoprotein homolog, homolog of yeast Nop10p, nucleolar protein 10, nucleolar protein family A member 3, nucleolar protein family A, member 3 (H/ACA small nucleolar RNPs), snoRNP protein NOP10,
• Gene location: 15q14 (90474770: 90458208)     Exons: 2     NC_000005.10
• Gene summary(Entrez): This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also incl
• OMIM: 606471

Protein Summary

• Protein general information: Q9NPE3  
  • Name: H/ACA ribonucleoprotein complex subunit 3 (Nucleolar protein 10) (Nucleolar protein family A member 3) (snoRNP protein NOP10)
  • Length: 64  
  • Mass: 7706
• Sequence:

  MFLQYYLNEQGDRVYTLKKFDPMGQQTCSAHPARFSPDDKYSRHRITIKKRFKVLMTQQPRPVL

• Structural information:
  • Interpro: IPR007264  IPR036756  
  • DIP: 40092
  • STRING: ENSP00000332198
• Other Databases: GeneCards:  NOP10  Malacards:  NOP10

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031118	rRNA pseudouridine synthesis	IBA	biological process
GO:0031120	snRNA pseudouridine synthesis	IBA	biological process
GO:0070034	telomerase RNA binding	IBA	molecular function
GO:0090661	box H/ACA telomerase RNP complex	IBA	cellular component
GO:0031429	box H/ACA snoRNP complex	IBA	cellular component
GO:0034513	box H/ACA snoRNA binding	IBA	molecular function
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0001522	pseudouridine synthesis	IEA	biological process
GO:0030515	snoRNA binding	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006364	rRNA processing	IEA	biological process
GO:0031118	rRNA pseudouridine synthesis	TAS	biological process
GO:0005654	nucleoplasm	TAS	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:0000454	snoRNA guided rRNA pseudouridine synthesis	IEA	biological process
GO:0031429	box H/ACA snoRNP complex	IEA	cellular component
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034513	box H/ACA snoRNA binding	IPI	molecular function
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0070034	telomerase RNA binding	TAS	molecular function
GO:1904874	positive regulation of telomerase RNA localization to Cajal body	HMP	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:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0005697	telomerase holoenzyme complex	TAS	cellular component
GO:0090661	box H/ACA telomerase RNP complex	TAS	cellular component
GO:0003723	RNA binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0005732	small nucleolar ribonucleoprotein complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001522	pseudouridine synthesis	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Dyskeratosis congenita	KEGG:H00507
Dyskeratosis congenita	KEGG:H00507
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray