NPAP1 (Nuclear Pore Associated Protein 1)
A testis-specific gene implicated in Prader-Willi syndrome and spermatogenesis
Gene Information Card
| Symbol | NPAP1 |
|---|---|
| Full Name | Nuclear Pore Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q11.2 |
| NCBI Gene ID | 100505746 ncbi.nlm.nih.gov/gene/100505746 |
| Ensembl ID | ENSG00000242247 |
| UniProt ID | Q9NXZ1 |
| OMIM ID | 611205 |
| HGNC ID | 33885 |
| Aliases | C15orf2, FLJ20489, MGC138499 |
Description
NPAP1 (Nuclear Pore Associated Protein 1) is an imprinted gene located on chromosome 15q11.2, a region critical for Prader-Willi syndrome (PWS). It is expressed predominantly in testis and encodes a protein associated with the nuclear pore complex. The gene is paternally expressed and its loss contributes to the PWS phenotype. NPAP1 is also known as C15orf2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prader-Willi syndrome | Loss of paternally expressed NPAP1 contributes to neurodevelopmental and metabolic features of PWS | OMIM #176270; NCBI Gene |
| Male infertility | Testis-specific expression suggests role in spermatogenesis; dysregulation may impair fertility | UniProt; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 0.3 | Not detected |
| Heart | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 8.2 | Testis-derived; moderate expression |
| HEK293 | 0.0 | No detectable expression |
| HeLa | 0.0 | No detectable expression |
| K562 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Deletion of 15q11.2 (PWS region) | Copy number loss | ~70% of PWS cases | Loss of NPAP1 and other imprinted genes; leads to PWS |
| Maternal uniparental disomy (UPD) | Epigenetic | ~25% of PWS cases | Absence of paternal NPAP1 expression |
| Imprinting center defect | Epigenetic | ~5% of PWS cases | Silencing of paternal NPAP1 |
Mutation functional classification
Loss of Function (LOF)
Deletion or silencing of paternal NPAP1 leads to loss of protein function, contributing to PWS.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nuclear pore (GO:0005643) | • protein binding (GO:0005515) |
| • nucleocytoplasmic transport (GO:0006913) |
Pathways
• Nuclear pore complex assembly
• mRNA transport
Protein Summary
NPAP1 encodes a 674-amino acid protein localized to the nuclear pore complex. It is expressed specifically in testis and is thought to play a role in nucleocytoplasmic transport during spermatogenesis. The protein contains a coiled-coil domain and interacts with other nuclear pore components. Loss of NPAP1 due to paternal deletion or imprinting defects is associated with Prader-Willi syndrome.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NPAP1 Knockout HEK293 Cell Line | EDJ-KQ8126 | Human | 23742 | Details Get a Quote |
| NPAP1 Knockout HeLa Cell Line | EDJ-KQ55799 | Human | 23742 | Details Get a Quote |
| NPAP1 Knockout A-549 Cell Line | EDJ-KQ64295 | Human | 23742 | Details Get a Quote |
| NPAP1 Knockout HCT 116 Cell Line | EDJ-KQ72744 | Human | 23742 | Details Get a Quote |
