NME7: NME/NM23 Family Member 7
A nucleoside diphosphate kinase involved in ciliary function and cancer
Gene Information Card
| Symbol | NME7 |
|---|---|
| Full Name | NME/NM23 Family Member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q24.1 |
| NCBI Gene ID | 29922 ncbi.nlm.nih.gov/gene/29922 |
| Ensembl ID | ENSG00000143156 |
| UniProt ID | Q9Y5B8 |
| OMIM ID | 613465 |
| HGNC ID | 20461 |
| Aliases | NDPK 7, NM23-H7, NDPK7 |
Description
NME7 (NME/NM23 Family Member 7) encodes a member of the nucleoside diphosphate kinase (NDPK) family. The protein localizes to the centrosome and is essential for ciliary function, particularly in motile cilia. It catalyzes the transfer of gamma-phosphate from ATP to nucleoside diphosphates, playing a role in nucleotide homeostasis and cell signaling. Mutations in NME7 are associated with primary ciliary dyskinesia and have been implicated in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Loss-of-function mutations impair ciliary motility | ClinVar, OMIM |
| Breast cancer | Altered expression linked to metastasis | COSMIC, NCBI |
| Hepatocellular carcinoma | Downregulation associated with poor prognosis | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Brain | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Cervical cancer cell line |
| A549 | 7.8 | Lung cancer cell line |
| HEK293 | 6.5 | Embryonic kidney cells |
| MCF7 | 5.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.445C>T (p.Arg149*) | Nonsense | Rare | Loss of function, associated with primary ciliary dyskinesia |
| c.661G>A (p.Gly221Arg) | Missense | Rare | Likely damaging, reduced kinase activity |
| c.1042C>T (p.Arg348Trp) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, impairing ciliary function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nucleotide metabolism (Reactome: R-HSA-8956319)
• Ciliary assembly and maintenance (Reactome: R-HSA-5620912)
Protein Summary
NME7 is a 186-amino acid protein with nucleoside diphosphate kinase activity. It localizes to the centrosome and is required for ciliary motility. The protein contains a conserved NDPK domain and interacts with other ciliary proteins. Structural studies show it forms a hexameric complex essential for catalytic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NME7 Knockout HEK293 Cell Line | EDJ-KQ9082 | Human | 29922 | Details Get a Quote |
| NME7 Knockout A-549 Cell Line | EDJ-KQ35573 | Human | 29922 | Details Get a Quote |
| NME7 Knockout HCT 116 Cell Line | EDJ-KQ35574 | Human | 29922 | Details Get a Quote |
| NME7 Knockout HeLa Cell Line | EDJ-KQ35575 | Human | 29922 | Details Get a Quote |
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