• Gene id: 60506

Gene Summary

• Gene Symbol: NYX   Gene   UCSC   Ensembl
• Aliases: CLRP, CSNB1, CSNB1A, CSNB4, NBM1
• Gene name: nyctalopin
• Alternate names: nyctalopin, leucine-rich repeat protein,
• Gene location: Xp11.4 (41447342: 41475651)     Exons: 3     NC_000023.11
• Gene summary(Entrez): The product of this gene belongs to the small leucine-rich proteoglycan (SLRP) family of proteins. Defects in this gene are the cause of congenital stationary night blindness type 1 (CSNB1), also called X-linked congenital stationary night blindness (XLCS
• OMIM: 300278

Protein Summary

• Protein general information: Q9GZU5  
  • Name: Nyctalopin
  • Length: 481  
  • Mass: 52000
  • Tissue specificity: Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer. {ECO
• Sequence:

  MKGRGMLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGCSVRCDRAGLLRVPAELPCEAVSIDLDRNGLR
  FLGERAFGTLPSLRRLSLRHNNLSFITPGAFKGLPRLAELRLAHNGDLRYLHARTFAALSRLRRLDLAACRLFSV
  PERLLAELPALRELAAFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRVRAVHAGA
  FGDCGVLEHLLLNDNLLAELPADAFRGLRRLRTLNLGGNALDRVARAWFADLAELELLYLDRNSIAFVEEGAFQN
  LSGLLALHLNGNRLTVLAWVAFQPGFFLGRLFLFRNPWCCDCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQ
  VTFGRSSDGLCVDPEELNLTTSSPGPSPEPAATTVSRFSSLLSKLLAPRVPVEEAANTTGGLANASLSDSLSSRG
  VGGAGRQPWFLLASCLLPSVAQHVVFGLQMD

• Structural information:
  • Protein Domains: (24..6-)
    (/note="LRRNT-)
    (336..38-)
    (/note="LRRCT"-)
  • Interpro: IPR000483  IPR001611  IPR003591  IPR032675  
  • STRING: ENSP00000340328
• Other Databases: GeneCards:  NYX  Malacards:  NYX

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0008150	biological_process	ND	biological process
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Congenital stationary night blindness	KEGG:H00787
Congenital stationary night blindness	KEGG:H00787
Night blindness	PMID:11062471
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq