NSFL1C: p47 Adaptor Protein of the p97/VCP ATPase Complex
Key regulator of membrane fusion, ubiquitin-dependent protein degradation, and ER-associated degradation (ERAD)
Gene Information Card
| Symbol | NSFL1C |
|---|---|
| Full Name | NSFL1 (p97) cofactor (p47) |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 55968 ncbi.nlm.nih.gov/gene/55968 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q9UNZ2 |
| OMIM ID | 606610 |
| HGNC ID | 15912 |
| Aliases | p47, UBXD1, UBX1, NSFL1 cofactor p47 |
Description
NSFL1C encodes the p47 protein, a cofactor of the AAA ATPase p97/VCP. p47 is essential for p97-mediated membrane fusion events (e.g., reassembly of Golgi stacks after mitosis) and for ubiquitin-dependent protein degradation pathways, including ER-associated degradation (ERAD). It contains a UBX domain that mediates binding to p97 and a SEP domain involved in membrane interactions. NSFL1C is ubiquitously expressed and its dysregulation has been implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Altered NSFL1C expression may affect p97-mediated degradation of oncoproteins and tumor suppressors | NCBI Gene, COSMIC |
| Neurodegeneration | p47 dysfunction impairs ERAD and proteostasis, potentially contributing to protein aggregation | UniProt, PubMed |
| Golgi fragmentation | Loss of p47 disrupts p97-dependent Golgi reassembly after mitosis | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Kidney | 11.5 | Medium |
| Heart | 10.1 | Medium |
| Lung | 9.3 | Low |
| Pancreas | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.5 | Cervical cancer cell line |
| HEK293 | 13.2 | Embryonic kidney cells |
| HepG2 | 12.1 | Liver cancer cell line |
| A549 | 10.8 | Lung cancer cell line |
| K562 | 9.5 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | <0.1% | Unknown; predicted to affect UBX domain |
| c.602G>A (p.Arg201Gln) | Missense | <0.1% | Unknown; may alter p97 binding |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., p.Met1Val) are predicted to abolish protein production.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Mutations in the UBX domain may produce dominant-negative effects by competing with wild-type p47 for p97 binding.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • membrane (GO:0016020) |
| • Golgi organization (GO:0007030) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
| • proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
Pathways
• p97/VCP-mediated degradation (Reactome: R-HSA-983168)
• ERAD pathway (Reactome: R-HSA-983168)
• Golgi reassembly (Reactome: R-HSA-983168)
Protein Summary
The NSFL1C protein (p47) is a 370-amino-acid cofactor of the p97/VCP ATPase. It contains an N-terminal SEP domain, a central UBX domain, and a C-terminal region. p47 binds p97 via its UBX domain and is required for p97-dependent membrane fusion and ubiquitin-dependent protein degradation. It is widely expressed and localizes to the cytoplasm, Golgi, and endoplasmic reticulum.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NSFL1C Knockout HEK293 Cell Line | EDJ-KQ2556 | Human | 55968 | Details Get a Quote |
| NSFL1C Knockout A-549 Cell Line | EDJ-KQ23211 | Human | 55968 | Details Get a Quote |
| NSFL1C Knockout HCT 116 Cell Line | EDJ-KQ23212 | Human | 55968 | Details Get a Quote |
| NSFL1C Knockout HeLa Cell Line | EDJ-KQ21847 | Human | 55968 | Details Get a Quote |
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