NECAP1 Gene - Adaptin Ear-Binding Coat-Associated Protein 1
Essential regulator of clathrin-mediated endocytosis and intracellular trafficking
Gene Information Card
| Symbol | NECAP1 |
|---|---|
| Full Name | NECAP endocytosis associated 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 25977 ncbi.nlm.nih.gov/gene/25977 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q8NC96 |
| OMIM ID | 611623 |
| HGNC ID | 24539 |
| Aliases | FLJ10718, MGC138499, NECAP-1 |
Description
NECAP1 encodes a protein that functions as an adaptin ear-binding coat-associated protein involved in clathrin-mediated endocytosis. It binds to the ear domains of alpha-adaptin and gamma-adaptin, regulating the assembly and disassembly of clathrin coats. NECAP1 is also implicated in intracellular trafficking and synaptic vesicle recycling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 21 (EIEE21) | Loss-of-function mutations in NECAP1 disrupt endocytosis and synaptic vesicle recycling, leading to impaired neurotransmission and early-onset seizures. | ClinVar, OMIM #615833 |
| Intellectual disability | NECAP1 mutations associated with neurodevelopmental delay and cognitive impairment, likely due to defective synaptic function. | ClinVar, OMIM #611623 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 8.2 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| HEK293 (embryonic kidney) | 6.5 | Common cell line |
| HeLa (cervical carcinoma) | 3.8 | Epithelial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.85C>T (p.Arg29*) | Nonsense | Rare | Premature stop, loss of function |
| c.497G>A (p.Arg166His) | Missense | Rare | Impaired binding to adaptins, reduced endocytosis |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg29*) lead to truncated protein and loss of endocytic function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg166His) may act in a dominant-negative manner by interfering with adaptin binding.
View complete mutation data：
Gene Ontology (GO)
| • clathrin coat assembly (GO:0048268) | • endocytosis (GO:0006897) |
| • intracellular protein transport (GO:0006886) | • synaptic vesicle recycling (GO:0036465) |
| • protein binding (GO:0005515) |
Pathways
• Clathrin-mediated endocytosis (KEGG hsa04144)
• Synaptic vesicle cycle (KEGG hsa04721)
Protein Summary
NECAP1 is a 275-amino acid protein containing an N-terminal PH-like domain and a C-terminal adaptin ear-binding motif. It localizes to clathrin-coated pits and vesicles, facilitating cargo selection and coat dynamics. The protein is highly expressed in brain, consistent with its role in synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NECAP1 Knockout HEK293 Cell Line | EDJ-KQ8332 | Human | 25977 | Details Get a Quote |
| NECAP1 Knockout A-549 Cell Line | EDJ-KQ34330 | Human | 25977 | Details Get a Quote |
| NECAP1 Knockout HCT 116 Cell Line | EDJ-KQ34331 | Human | 25977 | Details Get a Quote |
| NECAP1 Knockout HeLa Cell Line | EDJ-KQ34332 | Human | 25977 | Details Get a Quote |
