NARF (Nuclear Prelamin A Recognition Factor)
A key regulator of nuclear lamina assembly and prelamin A processing
Gene Information Card
| Symbol | NARF |
|---|---|
| Full Name | Nuclear Prelamin A Recognition Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 11202 ncbi.nlm.nih.gov/gene/11202 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9UHQ1 |
| OMIM ID | 606456 |
| HGNC ID | 7641 |
| Aliases | DKFZp686I152, FLJ20689, MGC138290, MGC138291 |
Description
NARF encodes a nuclear protein that specifically binds to the C-terminal region of prelamin A, a precursor of lamin A, which is a key component of the nuclear lamina. This interaction is essential for the proper processing and localization of lamin A, thereby contributing to nuclear envelope integrity and function. NARF is widely expressed and plays a role in maintaining nuclear structure and regulating gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Restrictive Dermopathy (RD) | Mutations in ZMPSTE24 or LMNA disrupt prelamin A processing; NARF binding may be altered, but direct NARF mutations are not established as causative. | ClinVar, OMIM |
| Hutchinson-Gilford Progeria Syndrome (HGPS) | Aberrant prelamin A (progerin) accumulation; NARF interaction with progerin may be impaired, contributing to nuclear lamina defects. | ClinVar, OMIM |
| Emery-Dreifuss Muscular Dystrophy (EDMD) | LMNA mutations cause nuclear envelope abnormalities; NARF's role in lamin A processing suggests potential involvement, though direct evidence is limited. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Brain | 7.1 | Low |
| Heart | 6.5 | Low |
| Liver | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.0 | Cervical adenocarcinoma; high expression |
| HEK 293 | 12.3 | Embryonic kidney; moderate expression |
| K562 | 9.8 | Leukemia; moderate expression |
| MCF7 | 7.5 | Breast cancer; low 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% | Likely loss of start codon; predicted loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Uncertain significance; may affect protein binding |
| c.200G>A (p.Arg67His) | Missense | <0.01% | Uncertain significance; no functional data |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in NARF; predicted from start codon loss.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • nuclear envelope (GO:0005635) |
| • protein binding (GO:0005515) | • nucleolus (GO:0005730) |
| • identical protein binding (GO:0042802) |
Pathways
• Nuclear Envelope Breakdown and Reformation
• Lamin A Processing and Maturation
Protein Summary
The NARF protein (Nuclear Prelamin A Recognition Factor) is a 42 kDa nuclear protein that specifically binds to the C-terminal region of prelamin A. It is involved in the proper localization and processing of lamin A, a key component of the nuclear lamina. NARF is expressed in multiple tissues and cell lines, with highest levels in testis and lymphoid tissues. Its function is critical for nuclear envelope integrity, and dysregulation may contribute to laminopathies such as restrictive dermopathy and progeria.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NARF Knockout HEK293 Cell Line | EDJ-KQ1799 | Human | 26502 | Details Get a Quote |
| NARF Knockout A-549 Cell Line | EDJ-KQ22995 | Human | 26502 | Details Get a Quote |
| NARF Knockout HCT 116 Cell Line | EDJ-KQ22997 | Human | 26502 | Details Get a Quote |
| NARF Knockout HeLa Cell Line | EDJ-KQ22998 | Human | 26502 | Details Get a Quote |
