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Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 438

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
CAMK1 trans Discovery rs12241254 10:101,329,158 C/T 0.16 997 0.411 0.062 5.3×10-11 1.120 6.4×10-12 3.1×10-9
CAMK1 trans Replication rs12241254 10:101,329,158 G/A 0.11 337 0.087 0.100 0.384 1.030 0.36 0.191

 

Regional association plots

Calcium/calmodulin-dependent protein kinase type 1 (CAMK1)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Calcium/calmodulin-dependent protein kinase type 1 (CAMK1)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Calcium/calmodulin-dependent protein kinase type 1 (CAMK1)

Target (abbrv.) CAMK1
Target (full name) Calcium/calmodulin-dependent protein kinase type 1
Somalogic ID (Sequence ID) SL010489 (3592-4_3)
Entrez Gene Symbol CAMK1
UniProt ID Q14012
UniProt Comment
  • Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, regulates transcription activators activity, cell cycle, hormone production, cell differentiation, actin filament organization and neurite outgrowth. Recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]-x(3)-[MVLIF]. Regulates axonal extension and growth cone motility in hippocampal and cerebellar nerve cells. Upon NMDA receptor-mediated Ca(2+) elevation, promotes dendritic growth in hippocampal neurons and is essential in synapses for full long-term potentiation (LTP) and ERK2-dependent translational activation. Downstream of NMDA receptors, promotes the formation of spines and synapses in hippocampal neurons by phosphorylating ARHGEF7/BETAPIX on 'Ser-694', which results in the enhancement of ARHGEF7 activity and activation of RAC1. Promotes neuronal differentiation and neurite outgrowth by activation and phosphorylation of MARK2 on 'Ser-91', 'Ser-92', 'Ser-93' and 'Ser-294'. Promotes nuclear export of HDAC5 and binding to 14-3-3 by phosphorylation of 'Ser-259' and 'Ser-498' in the regulation of muscle cell differentiation. Regulates NUMB-mediated endocytosis by phosphorylation of NUMB on 'Ser-276' and 'Ser-295'. Involved in the regulation of basal and estrogen-stimulated migration of medulloblastoma cells through ARHGEF7/BETAPIX phosphorylation (By similarity). Is required for proper activation of cyclin-D1/CDK4 complex during G1 progression in diploid fibroblasts. Plays a role in K(+) and ANG2-mediated regulation of the aldosterone synthase (CYP11B2) to produce aldosterone in the adrenal cortex. Phosphorylates EIF4G3/eIF4GII. In vitro phosphorylates CREB1, ATF1, CFTR, MYL9 and SYN1/synapsin I.
Wiki Pathways
  • Calcium Regulation in the Cardiac Cell
Pathway Studio
  • EGFR/ERBB3 → MEF/MYOD/NFATC/MYOG signaling
  • GABA(B)R → postsynaptic inhibition
  • NPY1R → CRH/POMC production
  • NeuropeptideYR → ATF/CREB signaling
  • VasopressinR1 → MEF/MYOD/NFATC/MYOG signaling
  • VasopressinR2 → MEF/MYOD/NFATC/MYOG signaling

All locus annotations are based on the sentinel SNP (rs12241254).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes