• Gene id: 10528

Gene Summary

• Gene Symbol: NOP56   Gene   UCSC   Ensembl
• Aliases: NOL5A, SCA36
• Gene name: NOP56 ribonucleoprotein
• Alternate names: nucleolar protein 56, NOP56 ribonucleoprotein homolog, nucleolar protein 5A (56kDa with KKE/D repeat),
• Gene location: 20p13 (2652631: 2658392)     Exons: 13     NC_000020.11
• Gene summary(Entrez): Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is simi
• OMIM: 614154

Protein Summary

• Protein general information: O00567  
  • Name: Nucleolar protein 56 (Nucleolar protein 5A)
  • Length: 594  
  • Mass: 66050
• Sequence:

  MVLLHVLFEHAVGYALLALKEVEEISLLQPQVEESVLNLGKFHSIVRLVAFCPFASSQVALENANAVSEGVVHED
  LRLLLETHLPSKKKKVLLGVGDPKIGAAIQEELGYNCQTGGVIAEILRGVRLHFHNLVKGLTDLSACKAQLGLGH
  SYSRAKVKFNVNRVDNMIIQSISLLDQLDKDINTFSMRVREWYGYHFPELVKIINDNATYCRLAQFIGNRRELNE
  DKLEKLEELTMDGAKAKAILDASRSSMGMDISAIDLINIESFSSRVVSLSEYRQSLHTYLRSKMSQVAPSLSALI
  GEAVGARLIAHAGSLTNLAKYPASTVQILGAEKALFRALKTRGNTPKYGLIFHSTFIGRAAAKNKGRISRYLANK
  CSIASRIDCFSEVPTSVFGEKLREQVEERLSFYETGEIPRKNLDVMKEAMVQAEEAAAEITRKLEKQEKKRLKKE
  KKRLAALALASSENSSSTPEECEEMSEKPKKKKKQKPQEVPQENGMEDPSISFSKPKKKKSFSKEELMSSDLEET
  AGSTSIPKRKKSTPKEETVNDPEEAGHRSGSKKKRKFSKEEPVSSGPEEAVGKSSSKKKKKFHKASQED

• Structural information:
  • Protein Domains: (292..41-)
    (/note="Nop-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00690"-)
  • Interpro: IPR029012  IPR012974  IPR042239  IPR002687  IPR036070   IPR012976  
  • Prosite: PS51358
  • STRING: ENSP00000370589
• Other Databases: GeneCards:  NOP56  Malacards:  NOP56

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030515	snoRNA binding	IBA	molecular function
GO:0031428	box C/D snoRNP complex	IBA	cellular component
GO:0032040	small-subunit processome	IBA	cellular component
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	TAS	cellular component
GO:0003723	RNA binding	TAS	molecular function
GO:0006364	rRNA processing	TAS	biological process
GO:0006364	rRNA processing	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:0005515	protein binding	IPI	molecular function
GO:0030515	snoRNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070761	pre-snoRNP complex	IDA	cellular component
GO:0005732	small nucleolar ribonucleoprotein complex	IDA	cellular component
GO:0045296	cadherin binding	HDA	molecular function
GO:0031428	box C/D snoRNP complex	NAS	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001650	fibrillar center	IDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:1990226	histone methyltransferase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05017	Spinocerebellar ataxia
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881