NXNL1 (nucleoredoxin like 1)

Gene

• Entrez ID: 115861
• Gene name: Nucleoredoxin like 1
• Gene symbol: NXNL1
• Synonyms (NCBI Gene): RDCVF, TXNL6
• Chromosome: 19
• Chromosome location: 19p13.11
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1200511	hsa-miR-1285	CLIP-seq
MIRT1200512	hsa-miR-3187-5p	CLIP-seq
MIRT1200513	hsa-miR-326	CLIP-seq
MIRT1200514	hsa-miR-330-5p	CLIP-seq
MIRT1200515	hsa-miR-378g	CLIP-seq
MIRT1200516	hsa-miR-4258	CLIP-seq
MIRT1200517	hsa-miR-4437	CLIP-seq
MIRT1200518	hsa-miR-4486	CLIP-seq
MIRT1200519	hsa-miR-4674	CLIP-seq
MIRT1200520	hsa-miR-4695-3p	CLIP-seq
MIRT1200521	hsa-miR-4757-5p	CLIP-seq
MIRT1200522	hsa-miR-612	CLIP-seq
MIRT2058018	hsa-miR-4706	CLIP-seq
MIRT2058019	hsa-miR-4749-5p	CLIP-seq
MIRT2058020	hsa-miR-4787-5p	CLIP-seq
MIRT2058021	hsa-miR-744	CLIP-seq
MIRT2391826	hsa-miR-4639-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005515	Function	Protein binding	IPI	25957687
GO:0007165	Process	Signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IDA	25957687
GO:0045494	Process	Photoreceptor cell maintenance	IDA	25957687
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045494	Process	Photoreceptor cell maintenance	IMP	25957687
GO:0048018	Function	Receptor ligand activity	IDA	25957687

Other IDs

• MIM: 608791
• HGNC: 25179
• e!Ensembl: ENSG00000171773

Protein

• UniProt ID: Q96CM4
• Protein name: Nucleoredoxin-like protein 1 (Thioredoxin-like protein 6)
• Protein function: Plays an important role in retinal cone photoreceptor survival (PubMed:25957687). In association with glucose transporter SLC16A1/GLUT1 and BSG, promotes retinal cone survival by enhancing aerobic glycolysis and accelerating the entry of glucose
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13905	Thioredoxin_8	32 → 132	Thioredoxin-like	Domain

• Sequence:

  MASLFSGRILIRNNSDQDELDTEAEVSRRLENRLVLLFFGAGACPQCQAFVPILKDFFVR
  LTDEFYVLRAAQLALVYVSQDSTEEQQDLFLKDMPKKWLFLPFEDDLRRDLGRQFSVERL
  PAVVVLKPDGDVLTRDGADEIQRLGTACFANWQEAAEVLDRNFQLPEDLEDQEPRSLTEC
  LRRHKYRVEKAARGGRDPGGGGGEEGGAGGLF

• Sequence length: 212

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
LEBER CONGENITAL AMAUROSIS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NXNL1-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25957687		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	19843539		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	LHGDN	15220920		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	15220920	Associate	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	19277021, 19843539, 25957687		★☆☆☆☆ Found in Text Mining only