DISEASES

Disease-gene associations mined from literature

Literature associating MARK4 and Peutz-Jeghers syndrome

MARK4 [ENSP00000262891]

MAP/microtubule affinity-regulating kinase 4; Serine/threonine-protein kinase (PubMed:15009667, PubMed:14594945, PubMed:23666762, PubMed:23184942). Phosphorylates the microtubule-associated protein MAPT/TAU (PubMed:14594945, PubMed:23666762). Also phosphorylates the microtubule-associated proteins MAP2 and MAP4 . Involved in regulation of the microtubule network, causing reorganization of microtubules into bundles . Required for the initiation of axoneme extension during cilium assembly . Regulates the centrosomal location of ODF2 and phosphorylates ODF2 in vitro . Plays a role in cell cycle progression, specifically in the G1/S checkpoint . Reduces neuronal cell survival . Plays a role in energy homeostasis by regulating satiety and metabolic rate (By similarity). Promotes adipogenesis by activating JNK1 and inhibiting the p38MAPK pathway, and triggers apoptosis by activating the JNK1 pathway (By similarity). Phosphorylates mTORC1 complex member RPTOR and acts as a negative regulator of the mTORC1 complex, probably due to disruption of the interaction between phosphorylated RPTOR and the RRAGA/RRAGC heterodimer which is required for mTORC1 activation . ECO:0000269|PubMed:15009667, ECO:0000269|PubMed:23184942, ECO:0000269|PubMed:23400999, ECO:0000269|PubMed:23666762,

Synonyms:  MARK4,  MARK4p,  hMARK4,  K7EK17,  K7EKG8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM