NCKAP5L Gene
NCK Associated Protein 5 Like
Gene Information Card
| Symbol | NCKAP5L |
|---|---|
| Full Name | NCK Associated Protein 5 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 123920 ncbi.nlm.nih.gov/gene/123920 |
| Ensembl ID | ENSG00000174444 |
| UniProt ID | Q6ZUT6 |
| OMIM ID | 618633 |
| HGNC ID | 28333 |
| Aliases | MGC45871, C12orf56 |
Description
NCKAP5L (NCK Associated Protein 5 Like) is a protein-coding gene located on chromosome 12q13.12. It encodes a protein that is similar to NCKAP5, which is involved in cytoskeletal organization and cell signaling. The gene is expressed in various tissues and has been implicated in neuronal development and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Potential role in synaptic signaling; limited direct evidence | NCBI Gene, OMIM |
| Cancer (various types) | Altered expression may affect cell migration and invasion | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Medium |
| Lung | 5.1 | Low |
| Heart | 4.2 | Low |
| Liver | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| SH-SY5Y | 22.1 | High expression |
| HeLa | 6.8 | Low expression |
| A549 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown |
| c.567_568del | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations predicted to cause nonsense-mediated decay or truncated protein.
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)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) | • actin cytoskeleton organization (GO:0030036) |
Pathways
• NCK signaling pathway
• Regulation of actin cytoskeleton
Protein Summary
The NCKAP5L protein (UniProt Q6ZUT6) is a 726-amino acid protein with a molecular weight of approximately 82 kDa. It contains a Src homology 3 (SH3) domain and is predicted to localize to the cytoplasm and plasma membrane. The protein is involved in actin cytoskeleton organization and may modulate cell migration and adhesion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCKAP5L Knockout HEK293 Cell Line | EDJ-KQ14393 | Human | 57701 | Details Get a Quote |
| NCKAP5L Knockout A-549 Cell Line | EDJ-KQ44566 | Human | 57701 | Details Get a Quote |
| NCKAP5L Knockout HCT 116 Cell Line | EDJ-KQ44567 | Human | 57701 | Details Get a Quote |
| NCKAP5L Knockout HeLa Cell Line | EDJ-KQ44568 | Human | 57701 | Details Get a Quote |
