• Gene id: 51388

Gene Summary

• Gene Symbol: NIP7   Gene   UCSC   Ensembl
• Aliases: CGI-37, HSPC031, KD93
• Gene name: nucleolar pre-rRNA processing protein NIP7
• Alternate names: 60S ribosome subunit biogenesis protein NIP7 homolog, NIP7, nucleolar pre-rRNA processing protein, nuclear import 7 homolog,
• Gene location: 16q22.1 (69339511: 69343110)     Exons: 5     NC_000016.10

Protein Summary

• Protein general information: Q9Y221  
  • Name: 60S ribosome subunit biogenesis protein NIP7 homolog (KD93)
  • Length: 180  
  • Mass: 20463
  • Tissue specificity: Expressed in hematopoietic stem/progenitor cells. {ECO
• Sequence:

  MRPLTEEETRVMFEKIAKYIGENLQLLVDRPDGTYCFRLHNDRVYYVSEKIMKLAANISGDKLVSLGTCFGKFTK
  THKFRLHVTALDYLAPYAKYKVWIKPGAEQSFLYGNHVLKSGLGRITENTSQYQGVVVYSMADIPLGFGVAAKST
  QDCRKVDPMAIVVFHQADIGEYVRHEETLT

• Structural information:
  • Protein Domains: (94..17-)
    (/note="PUA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00161"-)
  • Interpro: IPR002478  IPR015947  IPR036974  IPR016686  IPR040598   IPR005155  
  • Prosite: PS50890
  • PDB: 1SQW 1T5Y
  • PDBsum: 1SQW 1T5Y
  • STRING: ENSP00000254940
• Other Databases: GeneCards:  NIP7  Malacards:  NIP7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042273	ribosomal large subunit biogenesis	IBA	biological process
GO:0030687	preribosome, large subunit precursor	IBA	cellular component
GO:0005730	nucleolus	IBA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0042255	ribosome assembly	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
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