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

    Gene ID: 84254, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_032294.3NP_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:127410
      STKc_CaMKK1; Catalytic domain of the Serine/Threonine kinase, Calmodulin Dependent Protein Kinase Kinase 1
    2. NM_172206.2NP_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_172207.3NP_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:128447
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      cl21453
      Location:127448
      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)