NUP37
Nucleoporin 37
Gene Information Card
| Symbol | NUP37 |
|---|---|
| Full Name | nucleoporin 37 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q23.2 |
| NCBI Gene ID | 79023 ncbi.nlm.nih.gov/gene/79023 |
| Ensembl ID | ENSG00000175054 |
| UniProt ID | Q8NFH4 |
| OMIM ID | 609264 |
| HGNC ID | 29929 |
| Aliases | FLJ12735, MGC138290, p37 |
Description
NUP37 encodes a 37 kDa nucleoporin component of the nuclear pore complex (NPC), specifically a subunit of the Nup107-160 subcomplex. This subcomplex is essential for NPC assembly, nuclear transport, and cell cycle progression. NUP37 is involved in the structural integrity of the NPC and may play a role in mitotic spindle assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression or mutation may disrupt nuclear transport and cell cycle regulation, contributing to tumorigenesis. | COSMIC; literature |
| Primary microcephaly (potential) | Defects in NPC components can impair nuclear envelope dynamics and cell division, though direct evidence for NUP37 is limited. | OMIM; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Spleen | 11.5 | Medium |
| Bone marrow | 10.9 | Medium |
| Brain | 8.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney; high expression |
| HeLa | 12.1 | Cervical carcinoma; moderate expression |
| K562 | 11.8 | Leukemia; moderate expression |
| A549 | 10.2 | Lung carcinoma; moderate expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; effect unknown |
| c.325C>T (p.Arg109Trp) | missense | <0.01% | Rare variant; functional impact not characterized |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • nuclear pore | • nucleocytoplasmic transport |
| • mitotic spindle assembly | • protein transport |
| • mRNA transport |
Pathways
• Nuclear pore complex (NPC) assembly
• Cell cycle
• mitotic
• Transport of mature mRNA through NPC
Protein Summary
Nucleoporin 37 (NUP37) is a 37 kDa protein component of the nuclear pore complex, specifically part of the Nup107-160 subcomplex. It localizes to the nuclear envelope and is essential for NPC assembly and function. NUP37 also participates in mitotic spindle assembly and chromosome segregation. Its expression is highest in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NUP37 Knockout HEK293 Cell Line | EDJ-KQ14520 | Human | 79023 | Details Get a Quote |
| NUP37 Knockout A-549 Cell Line | EDJ-KQ44803 | Human | 79023 | Details Get a Quote |
| NUP37 Knockout HeLa Cell Line | EDJ-KQ44805 | Human | 79023 | Details Get a Quote |
| NUP37 Knockout HCT 116 Cell Line | EDJ-KQ43551 | Human | 79023 | Details Get a Quote |