Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84254
Gene name	Calcium/calmodulin dependent protein kinase kinase 1
Gene symbol	CAMKK1
Synonyms (NCBI Gene)	CAMKKA
Chromosome	17
Chromosome location	17p13.2
Summary	The product of this gene belongs to the Serine/Threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants

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miRTarBase ID	miRNA	Experiments	Reference
MIRT053703	hsa-miR-221-3p	Microarray	22942087
MIRT860413	hsa-miR-3688-5p	CLIP-seq
MIRT860414	hsa-miR-4633-5p	CLIP-seq
MIRT860415	hsa-miR-4650-5p	CLIP-seq
MIRT860416	hsa-miR-4663	CLIP-seq
MIRT860417	hsa-miR-4755-3p	CLIP-seq
MIRT860418	hsa-miR-532-5p	CLIP-seq
MIRT860419	hsa-miR-885-3p	CLIP-seq
MIRT860420	hsa-miR-106a	CLIP-seq
MIRT860421	hsa-miR-106b	CLIP-seq
MIRT860422	hsa-miR-1294	CLIP-seq
MIRT860423	hsa-miR-132	CLIP-seq
MIRT860424	hsa-miR-17	CLIP-seq
MIRT860425	hsa-miR-20a	CLIP-seq
MIRT860426	hsa-miR-20b	CLIP-seq
MIRT860427	hsa-miR-2114	CLIP-seq
MIRT860428	hsa-miR-212	CLIP-seq
MIRT860429	hsa-miR-2278	CLIP-seq
MIRT860430	hsa-miR-302a	CLIP-seq
MIRT860431	hsa-miR-302b	CLIP-seq
MIRT860432	hsa-miR-302c	CLIP-seq
MIRT860433	hsa-miR-302d	CLIP-seq
MIRT860434	hsa-miR-302e	CLIP-seq
MIRT860435	hsa-miR-3120-5p	CLIP-seq
MIRT860436	hsa-miR-3136-3p	CLIP-seq
MIRT860437	hsa-miR-346	CLIP-seq
MIRT860438	hsa-miR-3614-5p	CLIP-seq
MIRT860439	hsa-miR-3689a-3p	CLIP-seq
MIRT860440	hsa-miR-3689c	CLIP-seq
MIRT860441	hsa-miR-371b-3p	CLIP-seq
MIRT860442	hsa-miR-372	CLIP-seq
MIRT860443	hsa-miR-373	CLIP-seq
MIRT860444	hsa-miR-4270	CLIP-seq
MIRT860445	hsa-miR-4286	CLIP-seq
MIRT860446	hsa-miR-4288	CLIP-seq
MIRT860447	hsa-miR-4292	CLIP-seq
MIRT860448	hsa-miR-4308	CLIP-seq
MIRT860449	hsa-miR-4316	CLIP-seq
MIRT860450	hsa-miR-4421	CLIP-seq
MIRT860451	hsa-miR-4441	CLIP-seq
MIRT860452	hsa-miR-4685-5p	CLIP-seq
MIRT860453	hsa-miR-4709-5p	CLIP-seq
MIRT860454	hsa-miR-4719	CLIP-seq
MIRT860455	hsa-miR-4724-5p	CLIP-seq
MIRT860456	hsa-miR-4786-3p	CLIP-seq
MIRT860457	hsa-miR-508-5p	CLIP-seq
MIRT860458	hsa-miR-512-3p	CLIP-seq
MIRT860459	hsa-miR-519d	CLIP-seq
MIRT860460	hsa-miR-520a-3p	CLIP-seq
MIRT860461	hsa-miR-520b	CLIP-seq
MIRT860462	hsa-miR-520c-3p	CLIP-seq
MIRT860463	hsa-miR-520d-3p	CLIP-seq
MIRT860464	hsa-miR-520e	CLIP-seq
MIRT860465	hsa-miR-520g	CLIP-seq
MIRT860466	hsa-miR-520h	CLIP-seq
MIRT860467	hsa-miR-595	CLIP-seq
MIRT860468	hsa-miR-632	CLIP-seq
MIRT860469	hsa-miR-671-5p	CLIP-seq
MIRT860470	hsa-miR-93	CLIP-seq
MIRT860435	hsa-miR-3120-5p	CLIP-seq
MIRT860437	hsa-miR-346	CLIP-seq
MIRT860446	hsa-miR-4288	CLIP-seq
MIRT860450	hsa-miR-4421	CLIP-seq
MIRT860456	hsa-miR-4786-3p	CLIP-seq
MIRT860468	hsa-miR-632	CLIP-seq
MIRT860469	hsa-miR-671-5p	CLIP-seq
MIRT2193079	hsa-miR-515-5p	CLIP-seq
MIRT2193080	hsa-miR-2110	CLIP-seq
MIRT860435	hsa-miR-3120-5p	CLIP-seq
MIRT2193081	hsa-miR-3140-3p	CLIP-seq
MIRT2193082	hsa-miR-3150a-3p	CLIP-seq
MIRT2193083	hsa-miR-3175	CLIP-seq
MIRT860437	hsa-miR-346	CLIP-seq
MIRT860446	hsa-miR-4288	CLIP-seq
MIRT2193084	hsa-miR-4300	CLIP-seq
MIRT860450	hsa-miR-4421	CLIP-seq
MIRT2193085	hsa-miR-4438	CLIP-seq
MIRT860456	hsa-miR-4786-3p	CLIP-seq
MIRT2193086	hsa-miR-558	CLIP-seq
MIRT860468	hsa-miR-632	CLIP-seq
MIRT860469	hsa-miR-671-5p	CLIP-seq
MIRT2193087	hsa-miR-920	CLIP-seq
MIRT2193088	hsa-miR-939	CLIP-seq
MIRT2385513	hsa-miR-3184	CLIP-seq
MIRT2385514	hsa-miR-423-5p	CLIP-seq
MIRT2385515	hsa-miR-4728-5p	CLIP-seq
MIRT2496165	hsa-miR-1277	CLIP-seq
MIRT2496166	hsa-miR-3121-3p	CLIP-seq
MIRT2496167	hsa-miR-4738-3p	CLIP-seq
MIRT2496168	hsa-miR-4742-3p	CLIP-seq
MIRT2496169	hsa-miR-548g	CLIP-seq
MIRT2677332	hsa-miR-1205	CLIP-seq
MIRT2677333	hsa-miR-1225-3p	CLIP-seq
MIRT2677334	hsa-miR-3908	CLIP-seq
MIRT2677335	hsa-miR-4323	CLIP-seq
MIRT2677336	hsa-miR-4514	CLIP-seq
MIRT2677337	hsa-miR-4692	CLIP-seq
MIRT2677338	hsa-miR-604	CLIP-seq
MIRT2677339	hsa-miR-647	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IBA
GO:0004683	Function	Calcium/calmodulin-dependent protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	18242179, 28514442, 32707033, 32814053, 33961781, 36931259
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
611411	1469	ENSG00000004660

Q8N5S9

Protein name

Calcium/calmodulin-dependent protein kinase kinase 1 (CaM-KK 1) (CaM-kinase kinase 1) (CaMKK 1) (EC 2.7.11.17) (CaM-kinase IV kinase) (Calcium/calmodulin-dependent protein kinase kinase alpha) (CaM-KK alpha) (CaM-kinase kinase alpha) (CaMKK alpha)

Protein 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. Promote

PDB

6CCF , 6CD6

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	128 → 409	Protein kinase domain	Domain

Sequence

MEGGPAVCCQDPRAELVERVAAIDVTHLEEADGGPEPTRNGVDPPPRARAASVIPGSTSR
LLPARPSLSARKLSLQERPAGSYLEAQAGPYATGPASHISPRAWRRPTIESHHVAISDAE
DCVQLNQYKLQSEIGKGAYGVVRLAYNESEDRHYAMKVLSKKKLLKQYGFPRRPPPRGSQ
AAQGGPAKQLLPLERVYQEIAILKKLDHVNVVKLIEVLDDPAEDNLYLVFDLLRKGPVME
VPCDKPFSEEQARLYLRDVILGLEYLHCQKIVHRDIKPSNLLLGDDGHVKIADFGVSNQF
EGNDAQLSSTAGTPAFMAPEAISDSGQSFSGKALDVWATGVTLYCFVYGKCPFIDDFILA
LHRKIKNEPVVFPEEPEISEELKDLILKMLDKNPETRIGVPDIKLHPWVTKNGEEPLPSE
EEHCSVVEVTEEEVKNSVRLIPSWTTVILVKSMLRKRSFGNPFEPQARREERSMSAPGNL
LVKEGFGEGGKSPELPGVQEDEAAS

Sequence length

505

Interactions

View interactions

	KEGG		Reactome
	Alcoholism		CaMK IV-mediated phosphorylation of CREB CREB1 phosphorylation through the activation of CaMKII/CaMKK/CaMKIV cascasde Activation of RAC1 downstream of NMDARs

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANTI-TOPOISOMERASE-I-ANTIBODY-POSITIVE SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	36307826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23737288, 28739589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	34165505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	16741161, 35499292	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23737288, 28739589		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	21245421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	36307826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CAMKK1 (calcium/calmodulin dependent protein kinase kinase 1)