NME5 Gene - NME/NM23 Family Member 5
A comprehensive guide to NME5, including its genomic location, protein function, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | NME5 |
|---|---|
| Full Name | NME/NM23 Family Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 8382 ncbi.nlm.nih.gov/gene/8382 |
| Ensembl ID | ENSG00000113522 |
| UniProt ID | P56597 |
| OMIM ID | 603575 |
| HGNC ID | 7853 |
| Aliases | NDPK-D, NM23-H5, RSPH23, cilia-associated protein |
Description
NME5 (NME/NM23 Family Member 5) is a protein-coding gene located on chromosome 5q31.2. It encodes a member of the nucleoside diphosphate kinase (NDPK) family, though its primary function is structural in cilia and flagella rather than enzymatic. The protein is a component of the radial spoke head in motile cilia and is essential for ciliary motility, sperm flagellar function, and respiratory tract clearance. Mutations in NME5 are associated with primary ciliary dyskinesia (PCD) and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia (PCD) | Loss-of-function mutations in NME5 disrupt radial spoke head assembly, impairing ciliary motility and mucociliary clearance. | ClinVar, OMIM |
| Male Infertility (sperm motility defects) | NME5 deficiency leads to abnormal sperm flagellar structure and reduced motility. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Trachea | 35.1 | High |
| Lung | 12.3 | Medium |
| Fallopian Tube | 10.5 | Medium |
| Brain (cerebellum) | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HPAF-II (pancreas) | 15.4 | Ciliated cell line |
| Calu-3 (lung) | 22.7 | Airway epithelial cell line |
| HepG2 (liver) | 0.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.130C>T (p.Arg44*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.271_272delAG (p.Arg91Glufs*12) | Frameshift | Rare | Loss of function; premature stop codon |
| c.418G>A (p.Gly140Arg) | Missense | Rare | Likely damaging; disrupts radial spoke binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in NME5 cause loss of protein function, leading to ciliary dyskinesia and sperm motility defects.
Gain of Function (GOF)
No gain-of-function mutations reported for NME5.
Dominant Negative (DN)
No dominant-negative mutations reported for NME5.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary motility (radial spoke assembly)
• Spermatogenesis (flagellar assembly)
Protein Summary
The NME5 protein (UniProt P56597) is a 212-amino acid member of the NME/NM23 family. Unlike other family members, NME5 lacks significant nucleoside diphosphate kinase activity and instead functions as a structural component of the radial spoke head in motile cilia and flagella. It localizes to the axoneme and is critical for ciliary beat frequency and sperm motility. The protein contains a conserved NDP kinase domain but has evolved a specialized role in microtubule-based motility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NME5 Knockout HEK293 Cell Line | EDJ-KQ5513 | Human | 8382 | Details Get a Quote |
| NME5 Knockout HCT 116 Cell Line | EDJ-KQ30060 | Human | 8382 | Details Get a Quote |
| NME5 Knockout HeLa Cell Line | EDJ-KQ54891 | Human | 8382 | Details Get a Quote |
| NME5 Knockout A-549 Cell Line | EDJ-KQ63378 | Human | 8382 | Details Get a Quote |
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