• Gene id: 54680

Gene Summary

• Gene Symbol: ZNHIT6   Gene   UCSC   Ensembl
• Aliases: BCD1, C1orf181, NY-BR-75
• Gene name: zinc finger HIT-type containing 6
• Alternate names: box C/D snoRNA protein 1, box C/D snoRNA essential 1 homolog, serologically defined breast cancer antigen NY-BR-75, zinc finger HIT domain-containing protein 6, zinc finger, HIT type 6,
• Gene location: 1p22.3 (85708457: 85649416)     Exons: 12     NC_000001.11
• OMIM: 0

Protein Summary

• Protein general information: Q9NWK9  
  • Name: Box C/D snoRNA protein 1 (Serologically defined breast cancer antigen NY BR 75) (Zinc finger HIT domain containing protein 6)
  • Length: 470  
  • Mass: 53918
• Sequence:

  MEFAAENEGKSGGGLHSVAEGVRLSPEPGREGVRDLAGAEEFGGGEEGTGLTGIKEIGDGEEGSGQRPEEIPMDL
  TVVKQEIIDWPGTEGRLAGQWVEQEVEDRPEVKDENAGVLEVKQETDSSLVVKEAKVGEPEVKEEKVKEEVMDWS
  EVKEEKDNLEIKQEEKFVGQCIKEELMHGECVKEEKDFLKKEIVDDTKVKEEPPINHPVGCKRKLAMSRCETCGT
  EEAKYRCPRCMRYSCSLPCVKKHKAELTCNGVRDKTAYISIQQFTEMNLLSDYRFLEDVARTADHISRDAFLKRP
  ISNKYMYFMKNRARRQGINLKLLPNGFTKRKENSTFFDKKKQQFCWHVKLQFPQSQAEYIEKRVPDDKTINEILK
  PYIDPEKSDPVIRQRLKAYIRSQTGVQILMKIEYMQQNLVRYYELDPYKSLLDNLRNKVIIEYPTLHVVLKGSNN
  DMKVLHQVKSESTKNVGNEN

• Structural information:
  • Interpro: IPR007529  
  • Prosite: PS51083
  • STRING: ENSP00000359606
• Other Databases: GeneCards:  ZNHIT6  Malacards:  ZNHIT6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070761	pre-snoRNP complex	IBA	cellular component
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0000492	box C/D snoRNP assembly	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0048254	snoRNA localization	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0070761	pre-snoRNP complex	IDA	cellular component
GO:0000492	box C/D snoRNP assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048254	snoRNA localization	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051259	protein complex oligomerization	IMP	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0001094	TFIID-class transcription factor complex binding	IPI	molecular function
GO:0051117	ATPase binding	IPI	molecular function
GO:0051117	ATPase 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			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