CAMK1
Description
The CAMK1 (calcium/calmodulin dependent protein kinase I) is a protein-coding gene located on chromosome 3.
Calcium/calmodulin-dependent protein kinase type 1 is an enzyme that in humans is encoded by the CAMK1 gene. Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase.
== References ==
== Further reading ==
== External links == Human CAMK1 genome location and CAMK1 gene details page in the UCSC Genome Browser.
CaMK1, also known as CaM kinase I or CaM kinase I alpha, is a calcium/calmodulin-dependent protein kinase that functions in the calcium-triggered CaMKK-CaMK1 signaling pathway. Upon calcium influx, it regulates transcription activator activity, cell cycle progression, hormone production, cell differentiation, actin filament organization, and neurite outgrowth. It recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]-x(3)-[MVLIF]. CaMK1 regulates axonal extension and growth cone motility in hippocampal and cerebellar nerve cells. Following NMDA receptor-mediated Ca(2+) elevation, it promotes dendritic growth in hippocampal neurons and is essential for full long-term potentiation (LTP) and ERK2-dependent translational activation in synapses. Downstream of NMDA receptors, CaMK1 promotes spine and synapse formation in hippocampal neurons by phosphorylating ARHGEF7/BETAPIX on 'Ser-694', which enhances ARHGEF7 activity and activates RAC1. It promotes neuronal differentiation and neurite outgrowth by activating and phosphorylating MARK2 on 'Ser-91', 'Ser-92', 'Ser-93', and 'Ser-294'. CaMK1 promotes nuclear export of HDAC5 and binding to 14-3-3 by phosphorylating 'Ser-259' and 'Ser-498', playing a role in regulating muscle cell differentiation. It regulates NUMB-mediated endocytosis by phosphorylating NUMB on 'Ser-276' and 'Ser-295'. CaMK1 is involved in regulating basal and estrogen-stimulated migration of medulloblastoma cells through ARHGEF7/BETAPIX phosphorylation (By similarity). It is essential for proper activation of the cyclin-D1/CDK4 complex during G1 progression in diploid fibroblasts. CaMK1 plays a role in K(+) and ANG2-mediated regulation of aldosterone synthase (CYP11B2) to produce aldosterone in the adrenal cortex. It phosphorylates EIF4G3/eIF4GII. In vitro, CaMK1 phosphorylates CREB1, ATF1, CFTR, MYL9, and SYN1/synapsin I. CaMK1 exists as a monomer and interacts with XPO1, MARK2, ARHGEF7/BETAPIX, and GIT1.
CAMK1 is also known as CAMKI.
Associated Diseases
- pachyonychia congenita
- episodic ataxia type 1
- spinocerebellar ataxia type 20
- isolated dystonia
- hyperinsulinism due to glucokinase deficiency
- spinocerebellar ataxia type 15/16
- dystonia 5
- X-linked dystonia-parkinsonism
- X-linked parkinsonism-spasticity syndrome
- torsion dystonia 2
- neuroferritinopathy
- torsion dystonia 7
