NXNL1
Nucleoredoxin-like 1: A thioredoxin-related protein with roles in retinal development and cancer
Gene Information Card
| Symbol | NXNL1 |
|---|---|
| Full Name | nucleoredoxin-like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 115701 ncbi.nlm.nih.gov/gene/115701 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q96C19 |
| OMIM ID | 610307 |
| HGNC ID | 25510 |
| Aliases | FLJ22662, MGC138290, MGC138291, NXNL1a, NXNL1b |
Description
NXNL1 (nucleoredoxin-like 1) encodes a member of the thioredoxin family of redox proteins. The protein contains a conserved thioredoxin domain and is involved in cellular redox regulation, particularly in the retina. Alternative splicing generates two isoforms (NXNL1a and NXNL1b) with distinct C-termini. NXNL1 is expressed in multiple tissues, with highest levels in the retina and testis. It plays a role in photoreceptor development and survival, and has been implicated in cancer through altered expression and potential tumor-suppressive functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinal degeneration | NXNL1 mutations or dysregulation may impair photoreceptor redox homeostasis, leading to cell death | Limited; supported by expression studies and functional assays in animal models |
| Cancer (various types) | Altered NXNL1 expression (often downregulated) may contribute to tumor progression via redox imbalance | Observational; expression data from COSMIC and TCGA |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | High | High |
| Testis | Moderate | Medium |
| Brain | Low | Low |
| Heart | Low | Low |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | Moderate | Endogenous expression |
| HeLa (cervical cancer) | Low | Low expression |
| MCF7 (breast cancer) | Low | Low expression |
| HEK293 (embryonic kidney) | Low | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | missense | Rare | Unknown functional effect |
| c.200_201del (p.Glu67fs) | frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Thioredoxin pathway
• Redox regulation of cell signaling
Protein Summary
The NXNL1 protein (UniProt Q96C19) is a 162-amino acid (isoform a) or 150-amino acid (isoform b) thioredoxin-like oxidoreductase. It contains a conserved CXXC active site motif typical of thioredoxins, enabling it to catalyze disulfide bond reduction and regulate cellular redox status. The protein is predominantly cytoplasmic but can also localize to the nucleus. NXNL1 is highly expressed in the retina, where it supports photoreceptor survival, and is downregulated in several cancers, suggesting a potential tumor-suppressive role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NXNL1 Knockout HEK293 Cell Line | EDJ-KQ7539 | Human | 115861 | Details Get a Quote |
| NXNL1 Knockout HeLa Cell Line | EDJ-KQ57964 | Human | 115861 | Details Get a Quote |
| NXNL1 Knockout A-549 Cell Line | EDJ-KQ66455 | Human | 115861 | Details Get a Quote |
| NXNL1 Knockout HCT 116 Cell Line | EDJ-KQ74877 | Human | 115861 | Details Get a Quote |
