MAK Gene Summary [Human]
The product of this gene is a serine/threonine protein kinase related to kinases involved in cell cycle regulation. Studies of the mouse and rat homologs have localized the kinase to the chromosomes during meiosis in spermatogenesis, specifically to the synaptonemal complex that exists while homologous chromosomes are paired. Mutations in this gene have been associated with ciliary defects resulting in retinitis pigmentosa 62. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Details
| Type | Protein Coding |
| Official Symbol | MAK |
| Official Name | male germ cell associated kinase [Source:HGNC Symbol;Acc:HGNC:6816] |
| Ensembl ID | ENSG00000111837 |
| Bio databases IDs | |
| Aliases | male germ cell associated kinase |
| Synonyms | A930010O05Rik, male germ cell-associated kinase, Rck for protein kinase, RP62 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MAK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Serine/Threonine protein kinases, catalytic domain
- protein serine/threonine kinase
- Protein kinase (unclassified specificity)
- Protein Kinases, catalytic domain
- transcription co-activator
- Protein tyrosine and serine/threonine kinase
- alcohol group acceptor phosphotransferase
- protein binding
- Protein kinase domain
- Tyrosine kinase, catalytic domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- retinitis pigmentosa type 62
- retinitis pigmentosa
- retinal dystrophy
- prostate cancer
- major depression
- MAK-related retinopathy
- global developmental delay with intellectual disability
- asthenozoospermia
role in cell
- phosphorylation in
- motility
- degeneration
- assembly
- accumulation in
- acetylation in
- elongation
- stabilization in
- elongation in
- amplification in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- motile cilia
- Nucleus
- Plasma Membrane
- basal bodies
- centrosome
- axonemes
- midbody
- cytosol
- connecting cilia
- nucleoplasm
- nucleoli
- photoreceptor outer segments
- photoreceptor inner segments
- mitotic spindle
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MAK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- intraflagellar transport
- positive regulation of transcription, DNA-dependent
- spermatogenesis
- photoreceptor cell maintenance
- cell differentiation
- protein autophosphorylation
- protein phosphorylation
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- nucleus
- motile cilium
- centrosome
- mitotic spindle
- cytoplasm
- cilium
- midbody
- photoreceptor inner segment
- axoneme
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- transcription coactivator activity
- metal ion binding
- protein kinase activity
- protein serine/threonine kinase activity