NUP62: Nucleoporin 62 - A Key Component of the Nuclear Pore Complex
Essential for nucleocytoplasmic transport and implicated in autoimmune and neurodegenerative disorders
Gene Information Card
| Symbol | NUP62 |
|---|---|
| Full Name | nucleoporin 62 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 23636 ncbi.nlm.nih.gov/gene/23636 |
| Ensembl ID | ENSG00000100220 |
| UniProt ID | P37198 |
| OMIM ID | 605815 |
| HGNC ID | 8066 |
| Aliases | p62, 62kDa nucleoporin, NUP62CL, NLP-1 |
Description
NUP62 encodes nucleoporin 62, a component of the nuclear pore complex (NPC) that mediates nucleocytoplasmic transport. The protein is a key part of the central channel of the NPC, interacting with other nucleoporins to form the p62 complex. It is essential for the selective transport of macromolecules between the nucleus and cytoplasm. NUP62 is also involved in cell cycle regulation, signal transduction, and has been implicated in autoimmune diseases such as primary biliary cholangitis and in neurodegenerative conditions like amyotrophic lateral sclerosis (ALS).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary biliary cholangitis (PBC) | Autoantibodies against NUP62 (anti-p62) are detected in PBC patients, targeting the nuclear pore complex and contributing to biliary epithelial cell damage. | ClinVar, OMIM |
| Amyotrophic lateral sclerosis (ALS) | Mutations in NUP62 have been associated with ALS, potentially disrupting nucleocytoplasmic transport and leading to motor neuron degeneration. | ClinVar, NCBI Gene |
| Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) | NUP62 dysfunction may contribute to protein aggregation and impaired nuclear transport in this multisystem disorder. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.8 | Medium |
| Brain | 8.2 | Medium |
| Heart | 7.1 | Low |
| Lung | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.3 | Hepatocellular carcinoma cell line |
| HEK293 | 11.0 | Embryonic kidney cells |
| SH-SY5Y | 9.5 | Neuroblastoma cell line |
| HeLa | 8.8 | Cervical cancer cells |
| A549 | 7.2 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Reported in ALS patients; may impair NPC assembly |
| c.567_569del (p.Lys189del) | Deletion | <0.01% | Associated with altered nuclear transport |
| c.890G>A (p.Arg297Gln) | Missense | <0.01% | Potential loss-of-function variant |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that disrupt NUP62 protein stability or NPC integration, leading to impaired nucleocytoplasmic transport.
Gain of Function (GOF)
Not well-documented; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Some ALS-associated mutations may act in a dominant-negative manner by interfering with wild-type NUP62 function in the NPC.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • protein transport | • mRNA export |
| • cell cycle | • signal transduction |
Pathways
• Nuclear Pore Complex (NPC) Assembly
• Nucleocytoplasmic Transport
• mRNA Splicing and Export
Protein Summary
Nucleoporin 62 (NUP62) is a 62 kDa protein that forms part of the central channel of the nuclear pore complex. It contains a coiled-coil domain and FG repeats that facilitate selective transport. NUP62 interacts with other nucleoporins such as NUP54 and NUP58 to form the p62 complex. The protein is highly conserved and expressed in multiple tissues, with highest levels in liver and kidney. Post-translational modifications include O-GlcNAcylation and phosphorylation, which regulate its function. NUP62 is a target of autoantibodies in primary biliary cholangitis and mutations are linked to ALS.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP62CL Knockout HEK293 Cell Line | EDJ-KQ14521 | Human | 54830 | Details Get a Quote |
| NUP62CL Knockout A-549 Cell Line | EDJ-KQ44806 | Human | 54830 | Details Get a Quote |
| NUP62CL Knockout HCT 116 Cell Line | EDJ-KQ44807 | Human | 54830 | Details Get a Quote |
| NUP62CL Knockout HeLa Cell Line | EDJ-KQ44808 | Human | 54830 | Details Get a Quote |
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