CAMKK1

calcium/calmodulin dependent protein kinase kinase 1

Basic information

Region (hg38): 17:3860314-3894891

Links

ENSG00000004660 ∙ NCBI:84254 ∙ OMIM:611411 ∙ HGNC:1469 ∙ Uniprot:Q8N5S9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CAMKK1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CAMKK1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	2	0

Variants in CAMKK1

This is a list of pathogenic ClinVar variants found in the CAMKK1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-3862273-A-G		not specified	Uncertain significance (Jun 03, 2024)
17-3865950-C-T		not specified	Uncertain significance (Aug 19, 2023)
17-3865953-G-T		not specified	Uncertain significance (Mar 22, 2023)
17-3865983-C-T		not specified	Uncertain significance (Sep 20, 2023)
17-3869523-C-A		not specified	Uncertain significance (May 27, 2022)
17-3869552-C-T		not specified	Uncertain significance (Oct 25, 2022)
17-3869562-C-G		not specified	Uncertain significance (Jan 10, 2023)
17-3869588-C-T		not specified	Uncertain significance (Aug 14, 2023)
17-3869827-T-C		not specified	Uncertain significance (Nov 17, 2023)
17-3869830-C-G		not specified	Uncertain significance (Feb 14, 2023)
17-3869831-G-A			Likely benign (Oct 01, 2022)
17-3869872-C-T		not specified	Uncertain significance (Jan 03, 2024)
17-3869877-C-A		not specified	Uncertain significance (Mar 20, 2024)
17-3872612-C-T		not specified	Uncertain significance (Oct 27, 2021)
17-3873438-C-T		not specified	Uncertain significance (Jan 16, 2024)
17-3876276-C-T		not specified	Uncertain significance (Mar 03, 2022)
17-3876290-G-A		not specified	Uncertain significance (Dec 04, 2023)
17-3876355-G-T		not specified	Uncertain significance (Jun 10, 2022)
17-3876405-C-T		not specified	Likely benign (Aug 12, 2021)
17-3880384-C-T		not specified	Uncertain significance (Apr 12, 2024)
17-3880385-G-A		not specified	Uncertain significance (May 20, 2024)
17-3880415-A-G		not specified	Uncertain significance (Jul 12, 2023)
17-3880423-T-C		not specified	Uncertain significance (Feb 28, 2024)
17-3883106-C-T		not specified	Uncertain significance (Feb 21, 2024)
17-3883889-G-A		not specified	Uncertain significance (Sep 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CAMKK1	protein_coding	protein_coding	ENST00000158166	15	34577

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000340	0.999	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.34	254	322	0.790	0.0000196	3359
Missense in Polyphen		93	137.91	0.67438		1390
Synonymous	1.13	122	139	0.878	0.00000948	1042
Loss of Function	3.06	11	28.7	0.383	0.00000132	341

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000533	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Calcium/calmodulin-dependent protein kinase that belongs to a proposed calcium-triggered signaling cascade involved in a number of cellular processes. Phosphorylates CAMK1, CAMK1D, CAMK1G and CAMK4. Involved in regulating cell apoptosis. Promotes cell survival by phosphorylating AKT1/PKB that inhibits pro-apoptotic BAD/Bcl2-antagonist of cell death. {ECO:0000269|PubMed:12935886}.
• Pathway: Alcoholism - Homo sapiens (human);AMP-activated Protein Kinase (AMPK) Signaling;regulation of pgc-1a;nfat and hypertrophy of the heart ;Neuronal System;fmlp induced chemokine gene expression in hmc-1 cells;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;CREB phosphorylation through the activation of CaMKK;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;ca-calmodulin-dependent protein kinase activation (Consensus)

Recessive Scores

• pRec: 0.143

Intolerance Scores

• loftool: 0.729
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.78

Haploinsufficiency Scores

• pHI: 0.599
• hipred: Y
• hipred_score: 0.756
• ghis: 0.591

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.917

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	High
Cancer	High	Medium	High

Mouse Genome Informatics

• Gene name: Camkk1
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: protein phosphorylation;intracellular signal transduction;positive regulation of protein kinase activity
• Cellular component: nucleus;cytoplasm;cytosol
• Molecular function: protein serine/threonine kinase activity;calmodulin-dependent protein kinase activity;protein binding;calmodulin binding;ATP binding