NCKAP1
NCK-Associated Protein 1
Gene Information Card
| Symbol | NCKAP1 |
|---|---|
| Full Name | NCK-Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q32.1 |
| NCBI Gene ID | 10787 ncbi.nlm.nih.gov/gene/10787 |
| Ensembl ID | ENSG00000162998 |
| UniProt ID | Q9Y2A7 |
| OMIM ID | 604891 |
| HGNC ID | 7666 |
| Aliases | NAP1, HEM2, p125Nap1 |
Description
NCKAP1 (NCK-Associated Protein 1) encodes a protein that is a core component of the WAVE regulatory complex (WRC), which regulates actin cytoskeleton remodeling through the Arp2/3 complex. The protein interacts with NCK adaptor proteins and is involved in cell migration, adhesion, and morphogenesis. NCKAP1 is ubiquitously expressed with highest levels in brain and hematopoietic tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability (autosomal dominant) | Loss-of-function mutations in NCKAP1 disrupt WRC function, impairing neuronal actin dynamics and synaptic plasticity | ClinVar, OMIM |
| Autism spectrum disorder | Rare de novo variants in NCKAP1 associated with ASD risk via altered dendritic spine morphology | ClinVar, PubMed |
| Cancer (various) | Dysregulation of NCKAP1 expression affects cell migration and invasion; overexpression in some tumors correlates with poor prognosis | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 30.2 | High |
| Lymph node | 18.5 | Medium |
| Lung | 12.1 | Medium |
| Liver | 8.4 | Low |
| Heart | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 25.3 | High expression |
| HeLa | 18.9 | Medium expression |
| K562 | 22.1 | Medium-high expression |
| SH-SY5Y | 35.6 | Very high expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1246C>T (p.Arg416*) | Nonsense | <0.01% | Loss of function; truncation of protein |
| c.2035G>A (p.Glu679Lys) | Missense | <0.01% | Unknown significance; likely damaging |
| c.1687_1688del (p.Leu563fs) | Frameshift | <0.01% | Loss of function; predicted NMD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein, resulting in haploinsufficiency of the WRC component.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in NCKAP1.
Dominant Negative (DN)
Potential dominant-negative effects from missense mutations that disrupt WRC assembly without complete loss of protein.
View complete mutation data：
Gene Ontology (GO)
| • Actin cytoskeleton organization | • Arp2/3 complex-mediated actin nucleation |
| • Cell migration | • Regulation of lamellipodium assembly |
| • WAVE complex |
Pathways
• WAVE regulatory complex pathway
• Actin nucleation by Arp2/3 complex
• Rac1 signaling pathway
• Regulation of actin dynamics for cell motility
Protein Summary
NCKAP1 (also known as NAP1) is a 125 kDa protein that forms part of the WAVE regulatory complex (WRC) along with CYFIP1, ABI1/2, WASF1/2, and BRK1. It links NCK adaptor proteins to the actin nucleation machinery, promoting lamellipodia formation and cell migration. The protein contains a coiled-coil domain and a WRC-interacting region. Mutations in NCKAP1 are associated with neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCKAP1L Knockout HEK293 Cell Line | EDJ-KQ4856 | Human | 3071 | Details Get a Quote |
| NCKAP1L Knockout HeLa Cell Line | EDJ-KQ53509 | Human | 3071 | Details Get a Quote |
| NCKAP1L Knockout A-549 Cell Line | EDJ-KQ61978 | Human | 3071 | Details Get a Quote |
| NCKAP1L Knockout HCT 116 Cell Line | EDJ-KQ70460 | Human | 3071 | Details Get a Quote |
