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

    Gene ID: 84254, updated on 14-Nov-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
    mouse all
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    Genomic context

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    See CAMKK1 in Genome Data Viewer
    Location:
    17p13.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (3860315..3893053, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (3748985..3781678, complement)
    RS_2024_09 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 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. 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
    2. Polymorphism rs7214723 in CAMKK1 and lung cancer risk in Chinese population. Zhang YH, et al. Tumour Biol, 2013 Oct. PMID 23737288
    3. 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
    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. CaM kinase I alpha-induced phosphorylation of Drp1 regulates mitochondrial morphology. Han XJ, et al. J Cell Biol, 2008 Aug 11. PMID 18695047, Free PMC Article

    See all (45) 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)

    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 calcium/calmodulin-dependent protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calmodulin binding 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
    		  
    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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