• Gene id: 115861

Gene Summary

• Gene Symbol: NXNL1   Gene   UCSC   Ensembl
• Aliases: RDCVF, TXNL6
• Gene name: nucleoredoxin like 1
• Alternate names: nucleoredoxin-like protein 1, rod-derived cone viability factor, thioredoxin-like 6, thioredoxin-like protein 6,
• Gene location: 19p13.11 (17460925: 17455424)     Exons: 2     NC_000019.10
• Gene summary(Entrez): Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thiored
• OMIM: 615520

Protein Summary

• Protein general information: Q96CM4  
  • Name: Nucleoredoxin like protein 1 (Thioredoxin like protein 6)
  • Length: 212  
  • Mass: 23943
• Sequence:

  MASLFSGRILIRNNSDQDELDTEAEVSRRLENRLVLLFFGAGACPQCQAFVPILKDFFVRLTDEFYVLRAAQLAL
  VYVSQDSTEEQQDLFLKDMPKKWLFLPFEDDLRRDLGRQFSVERLPAVVVLKPDGDVLTRDGADEIQRLGTACFA
  NWQEAAEVLDRNFQLPEDLEDQEPRSLTECLRRHKYRVEKAARGGRDPGGGGGEEGGAGGLF

• Structural information:
  • Protein Domains: (1..16-)
    (/note="Thioredoxin-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00691"-)
  • Interpro: IPR029520  IPR012336  IPR036249  IPR013766  
  • Prosite: PS51352
  • STRING: ENSP00000305631
• Other Databases: GeneCards:  NXNL1  Malacards:  NXNL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045494	photoreceptor cell maintenance	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component

Diseases

Associated diseases	References
Oligozoospermia	MIK: 21989496

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21989496	Oligozoospermia			11 (8 infertile and 3 fertile men)	Male infertility	Microarray