MAK Gene: Male Germ Cell-Associated Kinase
A serine/threonine kinase involved in ciliary function and retinal health
Gene Information Card
| Symbol | MAK |
|---|---|
| Full Name | Male germ cell-associated kinase |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 4117 ncbi.nlm.nih.gov/gene/4117 |
| Ensembl ID | ENSG00000111837 |
| UniProt ID | P20794 |
| OMIM ID | 154235 |
| HGNC ID | 6816 |
| Aliases | RP62, AATYK3, FLJ12892 |
Description
The MAK gene encodes a serine/threonine protein kinase that is predominantly expressed in male germ cells and the retina. It plays a critical role in ciliary function, particularly in photoreceptor cells, where it regulates the length and stability of the connecting cilium. Mutations in MAK are associated with autosomal recessive retinitis pigmentosa (RP62). The protein localizes to the ciliary axoneme and is involved in cell cycle progression and spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa 62 (RP62) | Loss-of-function mutations in MAK disrupt ciliary transport and photoreceptor maintenance, leading to progressive retinal degeneration. | ClinVar, OMIM |
| Cone-rod dystrophy | Rare MAK variants may impair ciliary function in cone photoreceptors, though evidence is limited. | ClinVar |
| Male infertility | MAK is essential for spermatogenesis; knockout models show defective sperm flagella and reduced fertility. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Retina | 22.1 | Medium |
| Brain (cerebellum) | 5.3 | Low |
| Heart | 2.1 | Low |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 12.5 | Moderate expression |
| HeLa (cervical carcinoma) | 3.2 | Low expression |
| HEK293 (embryonic kidney) | 1.1 | Very low expression |
| K562 (leukemia) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1297C>T (p.Arg433*) | Nonsense | Rare | Loss of function; truncation of kinase domain |
| c.1634C>T (p.Thr545Met) | Missense | Rare | Reduced kinase activity; associated with RP62 |
| c.2269_2270del (p.Leu757Valfs*12) | Frameshift | Rare | Premature stop; loss of C-terminal domain |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production; null allele |
Mutation functional classification
Loss of Function (LOF)
Most MAK mutations in retinitis pigmentosa are loss-of-function (nonsense, frameshift, start loss), leading to truncated or absent protein, impaired ciliary maintenance, and photoreceptor death.
Gain of Function (GOF)
No gain-of-function mutations reported for MAK.
Dominant Negative (DN)
No dominant-negative mutations reported; MAK-associated disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ciliary signaling pathway (R-HSA-5620912)
• Photoreceptor cell maintenance (R-HSA-2453902)
• Spermatogenesis (R-HSA-1500620)
Protein Summary
MAK (male germ cell-associated kinase) is a 757-amino acid serine/threonine protein kinase with a central kinase domain. It localizes to the ciliary axoneme and centrosome, where it regulates ciliary length and intraflagellar transport. In the retina, MAK is essential for the maintenance of photoreceptor connecting cilia; loss of function leads to retinitis pigmentosa. In testis, MAK is required for proper flagellar formation and sperm motility. The protein interacts with AATK and other ciliary proteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAK Knockout HEK293 Cell Line | EDJ-KQ3476 | Human | 4117 | Details Get a Quote |
| MAK Knockout HeLa Cell Line | EDJ-KQ53837 | Human | 4117 | Details Get a Quote |
| MAK Knockout A-549 Cell Line | EDJ-KQ62321 | Human | 4117 | Details Get a Quote |
| MAK Knockout HCT 116 Cell Line | EDJ-KQ70798 | Human | 4117 | Details Get a Quote |
| MAK Knockout HAP1 Cell Line | EDC08067 | Human | 4117 | Details Get a Quote |
