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

Gene ID: 84254, updated on 25-Nov-2021

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
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

See CAMKK1 in Genome Data Viewer
Location:
17p13.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (3860315..3893053, complement)
105.20201022 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 integrin subunit alpha E Neighboring gene nonconserved acetylation island sequence 85 enhancer Neighboring gene nuclear cap binding subunit 3 Neighboring gene Sharpr-MPRA regulatory region 11291 Neighboring gene purinergic receptor P2X 1 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3

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?

Phenotypes

Associated conditions

Description Tests
Genome-wide and candidate gene association study of cigarette smoking behaviors.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables calmodulin-dependent protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein serine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein serine/threonine/tyrosine 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
PubMed 
involved_in positive regulation of protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein 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
PubMed 
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)

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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_032294.3NP_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
    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/Swiss-Prot
    Q8N5S9
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

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