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CAMKK1 calcium/calmodulin dependent protein kinase kinase 1 [ Homo sapiens (human) ]

Gene ID: 84254, updated on 5-Mar-2024

Summary

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Official Symbol
CAMKK1provided by HGNC
Official Full Name
calcium/calmodulin dependent protein kinase kinase 1provided by HGNC
Primary source
HGNC:HGNC:1469
See related
Ensembl:ENSG00000004660 MIM:611411; AllianceGenome:HGNC:1469
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAMKKA
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 encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in brain (RPKM 12.8), salivary gland (RPKM 4.6) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
17p13.2
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3860315..3893053, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3748985..3781678, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (3763609..3796347, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3716184-3716689 Neighboring gene nuclear cap binding subunit 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:3735506-3735685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8021 Neighboring gene uncharacterized LOC124903897 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3771089-3771590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3771591-3772090 Neighboring gene Sharpr-MPRA regulatory region 11291 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3791367-3791886 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3791887-3792408 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:3807108-3807786 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11522 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11523 Neighboring gene purinergic receptor P2X 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11524 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11525 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11528 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:3831158-3832357 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3833185-3834129 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3844399-3844898 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3856267-3857115 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:3860613-3861517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8026 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8027

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Polymorphism rs7214723 in CAMKK1: a new genetic variant associated with cardiovascular diseases. Beghi S, et al. Biosci Rep, 2021 Jul 30. PMID 34165505, Free PMC Article
  2. Polymorphism rs7214723 in CAMKK1 and lung cancer risk in Chinese population. Zhang YH, et al. Tumour Biol, 2013 Oct. PMID 23737288
  3. Ca2+/calmodulin-dependent kinase kinase alpha is expressed by monocytic cells and regulates the activation profile. Guest CB, et al. PLoS One, 2008 Feb 13. PMID 18270593, Free PMC Article
  4. Regulation of Ca(2+)/calmodulin-dependent protein kinase kinase alpha by cAMP-dependent protein kinase: I. Biochemical analysis. Okuno S, et al. J Biochem, 2001 Oct. PMID 11574070
  5. Role of Ca(2+)/calmodulin-dependent protein kinase kinase in adrenal aldosterone production. Nanba K, et al. Endocrinology, 2015 May. PMID 25679868, Free PMC Article

See all (43) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Polymorphism rs7214723 in CAMKK1: a new genetic variant associated with cardiovascular diseases.
    Title: Polymorphism rs7214723 in CAMKK1: a new genetic variant associated with cardiovascular diseases.
  2. Site-directed mutagenesis analysis revealed that Leu(358) in CaMKKbeta/Ile(322) in CaMKKalpha confer, at least in part, a distinct recognition of AMPK but not of CaMKIalpha.
    Title: Differential AMP-activated Protein Kinase (AMPK) Recognition Mechanism of Ca2+/Calmodulin-dependent Protein Kinase Kinase Isoforms.
  3. CaMKK1 does not play a pivotal role in the calcium signaling cascade regulating adrenal aldosterone production.
    Title: Role of Ca(2+)/calmodulin-dependent protein kinase kinase in adrenal aldosterone production.
  4. CAMKK1 might contribute to the risk of lung cancer in Chinese populations.
    Title: Polymorphism rs7214723 in CAMKK1 and lung cancer risk in Chinese population.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
  6. CaMKIalpha is a widely expressed protein kinase, suggesting that Ca2+ is likely to be functionally important in the control of mitochondrial dynamics through regulation of Drp1 phosphorylation in neurons and other cell types.[CaMKIalpha]
    Title: CaM kinase I alpha-induced phosphorylation of Drp1 regulates mitochondrial morphology.
  7. Adiponectin activates AMP-activated protein kinase in muscle cells via APPL1/LKB1-dependent and phospholipase C/Ca2+/Ca2+/calmodulin-dependent protein kinase kinase-dependent pathways
    Title: Adiponectin activates AMP-activated protein kinase in muscle cells via APPL1/LKB1-dependent and phospholipase C/Ca2+/Ca2+/calmodulin-dependent protein kinase kinase-dependent pathways.
  8. role for CaMKKalpha in the differentiation of monocytic cells
    Title: Ca2+/calmodulin-dependent kinase kinase alpha is expressed by monocytic cells and regulates the activation profile.
  9. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: Variants in the GH-IGF axis confer susceptibility to lung cancer.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide and candidate gene association study of cigarette smoking behaviors.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC34095, DKFZp761M0423

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables calmodulin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calmodulin-dependent protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in intracellular signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
calcium/calmodulin-dependent protein kinase kinase 1
Names
CAMKK alpha protein
caM-KK 1
caM-KK alpha
caM-kinase IV kinase
caM-kinase kinase 1
caM-kinase kinase alpha
caMKK 1
calcium/calmodulin-dependent protein kinase kinase 1, alpha
calcium/calmodulin-dependent protein kinase kinase alpha
NP_115670.1
NP_757343.2
NP_757344.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032294.3 → NP_115670.1  calcium/calmodulin-dependent protein kinase kinase 1 isoform a

    See identical proteins and their annotated locations for NP_115670.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
    Source sequence(s)
    AC005940
    Consensus CDS
    CCDS11038.1
    UniProtKB/Swiss-Prot
    Q8N5S9, Q9BQH3
    Related
    ENSP00000323118.3, ENST00000348335.7
    Conserved Domains (1) summary
    cd14200
    Location:127 → 410
    STKc_CaMKK1; Catalytic domain of the Serine/Threonine kinase, Calmodulin Dependent Protein Kinase Kinase 1

  2. NM_172206.2 → NP_757343.2  calcium/calmodulin-dependent protein kinase kinase 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and includes a novel 5' coding region compared to variant 1. The encoded isoform (c) has a longer N-terminus than isoform a.
    Source sequence(s)
    AC005940, AF425301
    Consensus CDS
    CCDS86560.1
    UniProtKB/TrEMBL
    J3KPJ3
    Related
    ENSP00000371188.2, ENST00000381769.6

  3. NM_172207.3 → NP_757344.2  calcium/calmodulin-dependent protein kinase kinase 1 isoform b

    See identical proteins and their annotated locations for NP_757344.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an additional segment in the coding region and uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. It encodes isoform b which is longer, but has a shorter C-terminus compared to isoform a.
    Source sequence(s)
    AC005940, AL136576, BC031647
    Consensus CDS
    CCDS11039.1
    UniProtKB/Swiss-Prot
    Q8N5S9
    Related
    ENSP00000158166.5, ENST00000158166.5
    Conserved Domains (2) summary
    smart00220
    Location:128 → 447
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cl21453
    Location:127 → 448
    PKc_like; Protein Kinases, catalytic domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    3860315..3893053 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    3748985..3781678 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N5S9.2 GenPept UniProtKB/Swiss-Prot:Q8N5S9

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