NRAP Gene - Nebulin-Related Anchoring Protein
Key sarcomeric protein involved in cardiac and skeletal muscle structure and function
Gene Information Card
| Symbol | NRAP |
|---|---|
| Full Name | Nebulin-Related Anchoring Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.1 |
| NCBI Gene ID | 10742 ncbi.nlm.nih.gov/gene/10742 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q86VF7 |
| OMIM ID | 602891 |
| HGNC ID | 7989 |
| Aliases | N-RAP, nebulin-related protein |
Description
The NRAP gene encodes nebulin-related anchoring protein, a large sarcomeric protein predominantly expressed in cardiac and skeletal muscle. It localizes to the myotendinous junction and intercalated discs, where it anchors thin filaments to the Z-disc and plays a critical role in maintaining sarcomere integrity and force transmission. Mutations in NRAP are associated with dilated cardiomyopathy and other muscle disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated Cardiomyopathy (DCM) | Disruption of sarcomere anchoring leads to impaired contractility and progressive cardiac dilation | ClinVar, OMIM |
| Cardiomyopathy, familial hypertrophic | Altered thin filament attachment may contribute to hypertrophic remodeling | ClinVar |
| Muscular dystrophy, limb-girdle type | Defective myotendinous junction integrity causes muscle weakness | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 45.2 | High |
| Skeletal Muscle | 38.7 | High |
| Esophagus | 5.1 | Low |
| Adipose Tissue | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 62.3 | High expression |
| Skeletal muscle myoblasts | 28.9 | Moderate expression |
| Fibroblasts | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Premature truncation, loss of function |
| c.5678_5682del (p.Glu1893fs) | Frameshift | <0.01% | Frameshift, loss of function |
| c.2345G>A (p.Arg782His) | Missense | 0.02% | Potential dominant negative effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and haploinsufficiency are associated with dilated cardiomyopathy.
Gain of Function (GOF)
No gain-of-function mutations reported in NRAP.
Dominant Negative (DN)
Missense variants in the nebulin repeat domain may interfere with actin binding and exert dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • striated muscle thin filament (GO:0005865) |
| • Z disc (GO:0030018) | • M band (GO:0031430) |
| • actin filament binding (GO:0051015) |
Pathways
• Sarcomere organization (Reactome: R-HSA-5250913)
• Striated muscle contraction (Reactome: R-HSA-390522)
Protein Summary
Nebulin-related anchoring protein (NRAP) is a 1,964-amino acid protein with multiple nebulin repeats and a serine-rich region. It binds actin and links the thin filament to the Z-disc and intercalated disc. NRAP is essential for sarcomere assembly and stability in cardiac and skeletal muscle. Its dysfunction leads to myofibrillar disarray and cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRAP Knockout HEK293 Cell Line | EDJ-KQ5361 | Human | 4892 | Details Get a Quote |
| NRAP Knockout HeLa Cell Line | EDJ-KQ54022 | Human | 4892 | Details Get a Quote |
| NRAP Knockout A-549 Cell Line | EDJ-KQ62512 | Human | 4892 | Details Get a Quote |
| NRAP Knockout HCT 116 Cell Line | EDJ-KQ70983 | Human | 4892 | Details Get a Quote |
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