POM121C
POM121 transmembrane nucleoporin C
Gene Information Card
| Symbol | POM121C |
|---|---|
| Full Name | POM121 transmembrane nucleoporin C |
| Gene Type | protein-coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 100101267 ncbi.nlm.nih.gov/gene/100101267 |
| Ensembl ID | ENSG00000204371 |
| UniProt ID | A8MZ29 |
| OMIM ID | 615732 |
| HGNC ID | 33437 |
| Aliases | POM121C, POM121-like, MGC16384 |
Description
POM121C encodes a transmembrane nucleoporin that is a component of the nuclear pore complex (NPC). It is involved in nucleocytoplasmic transport and plays a role in nuclear envelope assembly. The protein localizes to the nuclear pore membrane and interacts with other nucleoporins to facilitate transport of macromolecules across the nuclear envelope.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may disrupt nuclear transport, affecting cell cycle and proliferation | COSMIC; literature |
| Intellectual disability (candidate) | Potential role in neuronal nuclear transport; limited evidence | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.0 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | missense | <0.01% | Unknown functional impact |
| c.567delA | frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to nonsense-mediated decay or truncated protein, impairing NPC function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in POM121C.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore (GO:0005643) | • nucleocytoplasmic transport (GO:0006913) |
| • protein transport (GO:0015031) | • membrane component (GO:0016021) |
Pathways
• Nuclear Pore Complex (NPC) assembly
• Transport of mature mRNA to cytoplasm
Protein Summary
POM121C is a transmembrane nucleoporin that anchors the nuclear pore complex to the nuclear envelope. It contains a transmembrane domain and interacts with other NPC components to regulate nuclear transport. Its expression is highest in testis and moderate in various cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| POM121C Knockout HEK293 Cell Line | EDJ-KQ12157 | Human | 100101267 | Details Get a Quote |
| POM121C Knockout A-549 Cell Line | EDJ-KQ39605 | Human | 100101267 | Details Get a Quote |
| POM121C Knockout HCT 116 Cell Line | EDJ-KQ40851 | Human | 100101267 | Details Get a Quote |
| POM121C Knockout HeLa Cell Line | EDJ-KQ40852 | Human | 100101267 | Details Get a Quote |
