NUP210L: Nucleoporin 210 Like
A component of the nuclear pore complex involved in nucleocytoplasmic transport and cellular signaling.
Gene Information Card
| Symbol | NUP210L |
|---|---|
| Full Name | Nucleoporin 210 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 1q32.1 |
| NCBI Gene ID | 91181 ncbi.nlm.nih.gov/gene/91181 |
| Ensembl ID | ENSG00000143190 |
| UniProt ID | Q5VWQ8 |
| OMIM ID | 620081 |
| HGNC ID | 28489 |
| Aliases | FLJ22662, KIAA1706, NUP210-like |
Description
NUP210L encodes a protein that is a component of the nuclear pore complex (NPC), which regulates nucleocytoplasmic transport. The protein is similar to NUP210 (nucleoporin 210) and is involved in the structural integrity of the NPC and in mediating transport of macromolecules across the nuclear envelope. NUP210L has been implicated in cell cycle regulation and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of NUP210L may alter nuclear transport, promoting cell proliferation and metastasis. | COSMIC, ClinVar |
| Colorectal cancer | Somatic mutations in NUP210L have been identified, potentially affecting NPC function and tumorigenesis. | COSMIC |
| Lung cancer | Altered expression levels observed; possible role in nuclear transport dysregulation. | NCBI Gene, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
| Brain | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 9.8 | Moderate expression |
| A549 (lung cancer) | 7.2 | Low expression |
| HCT116 (colorectal cancer) | 6.5 | Low expression |
| HEK293 (embryonic kidney) | 4.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.2567A>G (p.Asn856Ser) | Missense | <0.1% | Reported in colorectal cancer; potential impact on protein stability |
| c.3456_3457insA | Frameshift | <0.1% | Predicted loss-of-function; observed in lung cancer |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.3456_3457insA) likely result in truncated protein and loss of NPC function.
Gain of Function (GOF)
No clear gain-of-function mutations reported.
Dominant Negative (DN)
Not established for NUP210L.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • protein transport | • mRNA transport |
| • cell cycle |
Pathways
• Nuclear pore complex assembly
• Nucleocytoplasmic transport
• Cell cycle regulation
Protein Summary
NUP210L is a 210 kDa-like nucleoporin that localizes to the nuclear pore complex. It shares structural homology with NUP210 and is thought to contribute to the selective permeability of the nuclear envelope. The protein contains multiple FG repeats typical of nucleoporins and interacts with other NPC components to facilitate transport of proteins and RNAs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP210L Knockout HEK293 Cell Line | EDJ-KQ10711 | Human | 91181 | Details Get a Quote |
| NUP210L Knockout HeLa Cell Line | EDJ-KQ57795 | Human | 91181 | Details Get a Quote |
| NUP210L Knockout A-549 Cell Line | EDJ-KQ66290 | Human | 91181 | Details Get a Quote |
| NUP210L Knockout HCT 116 Cell Line | EDJ-KQ74710 | Human | 91181 | Details Get a Quote |
