MAK est un gène codé par le symbole MAK. Il est également connu sous le nom de Serine/threonine-protein kinase Male germ cell-associated kinase. MAK a une masse de 70.58kDa, une longueur d'acide aminé de 623, et est impliqué dans Retinitis pigmentosa 62.
Nous proposons 7 des anticorps contre MAK, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Essential for the regulation of ciliary length and required for the long-term survival of photoreceptors (By similarity). Phosphorylates FZR1 in a cell cycle-dependent manner. Plays a role in the transcriptional coactivation of AR. Could play an important function in spermatogenesis. May play a role in chromosomal stability in prostate cancer cells.
Résumé Entrez
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.
Spécificité tissulaire
Expressed in prostate cancer cell lines at generally higher levels than in normal prostate epithelial cell lines. Isoform 1 is expressed in kidney, testis, lung, trachea, and retina. Isoform 2 is retina-specific where it is expressed in rod and cone photoreceptors.
Implication dans la maladie
Retinitis pigmentosa 62: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Similitudes de séquence
Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily.
Modification post-traductionnelle
Autophosphorylated. Phosphorylated on serine and threonine residues.
Localisation cellulaire
Nucleus. Cytoplasm > Cytoskeleton > Microtubule organizing center > Centrosome. Cytoplasm > Cytoskeleton > Spindle. Midbody. Cell projection > Cilium > Photoreceptor outer segment. Photoreceptor inner segment.
Localized in both the connecting cilia and the outer segment axonemes (By similarity). Localized uniformly in nuclei during interphase, to the mitotic spindle and centrosomes during metaphase and anaphase, and also to midbody at anaphase until telophase.
