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    CAMK1G calcium/calmodulin dependent protein kinase IG [ Homo sapiens (human) ]

    Gene ID: 57172, updated on 3-Apr-2024

    Summary

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    Official Symbol
    CAMK1Gprovided by HGNC
    Official Full Name
    calcium/calmodulin dependent protein kinase IGprovided by HGNC
    Primary source
    HGNC:HGNC:14585
    See related
    Ensembl:ENSG00000008118 MIM:614994; AllianceGenome:HGNC:14585
    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
    VWS1; CLICK3; CLICKIII
    Summary
    Predicted to enable calmodulin binding activity and calmodulin-dependent protein kinase activity. Predicted to be involved in peptidyl-serine phosphorylation. Predicted to be located in endomembrane system. Predicted to be part of calcium- and calmodulin-dependent protein kinase complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in ovary (RPKM 11.3), brain (RPKM 11.2) and 5 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q32.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (209583714..209613939)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (208830506..208860706)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (209757059..209787284)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372898 Neighboring gene MPRA-validated peak673 silencer Neighboring gene uncharacterized LOC105372899 Neighboring gene uncharacterized LOC107985256 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:209781202-209781360 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:209782479-209783678 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:209802693-209803194 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:209803195-209803696 Neighboring gene laminin subunit beta 3 Neighboring gene microRNA 4260 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:209825272-209826471 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:209830041-209831240 Neighboring gene HSD11B1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:209848869-209849717 Neighboring gene G0/G1 switch 2

    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. No evidence of association between polymorphisms in four genes and sporadic amyotrophic lateral sclerosis in Han Chinese. An R, et al. Amyotroph Lateral Scler Frontotemporal Degener, 2015 Jun. PMID 25677198
    2. Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis. Deng M, et al. Nat Genet, 2013 Jun. PMID 23624525
    3. Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons. Pang ZP, et al. J Biol Chem, 2010 Oct 29. PMID 20729199, Free PMC Article
    4. Molecular cloning and characterization of CLICK-III/CaMKIgamma, a novel membrane-anchored neuronal Ca2+/calmodulin-dependent protein kinase (CaMK). Takemoto-Kimura S, et al. J Biol Chem, 2003 May 16. PMID 12637513
    5. A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32-q41. Schutte BC, et al. Genome Res, 2000 Jan. PMID 10645953, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. No evidence of association between polymorphisms in CAMK1G and sporadic amyotrophic lateral sclerosis in Han Chinese
      Title: No evidence of association between polymorphisms in four genes and sporadic amyotrophic lateral sclerosis in Han Chinese.
    2. Two new susceptibility loci for amyotrophic lateral sclerosis in the Han Chinese population in chromosome 1, CAMK1G and chromosome 22, SUSD2 and CABIN1.
      Title: Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.
    3. Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons
      Title: Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons.
    4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    6. CLICK-III/CaMKIgamma is a novel membrane-anchored neuronal Ca2+/calmodulin-dependent protein kinase (CaMK).
      Title: Molecular cloning and characterization of CLICK-III/CaMKIgamma, a novel membrane-anchored neuronal Ca2+/calmodulin-dependent protein kinase (CaMK).
    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 association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis.
    EBI GWAS Catalog
    Genome-wide population-based association study of extremely overweight young adults--the GOYA study.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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 peptidyl-serine phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of calcium- and calmodulin-dependent protein kinase complex IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in intracellular anatomical structure IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    calcium/calmodulin-dependent protein kinase type 1G
    Names
    caM kinase I gamma
    caM kinase IG
    caM-KI gamma
    caMK-like CREB kinase III
    caMKI gamma
    caMKIG
    NP_065172.1
    XP_016857355.1
    XP_016857356.1
    XP_054193773.1
    XP_054193774.1

    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_020439.3 → NP_065172.1  calcium/calmodulin-dependent protein kinase type 1G

      See identical proteins and their annotated locations for NP_065172.1

      Status: REVIEWED

      Source sequence(s)
      AL049688, BC032787, BG715920
      Consensus CDS
      CCDS1486.1
      UniProtKB/Swiss-Prot
      Q86UH5, Q96NX5, Q9Y3J7
      UniProtKB/TrEMBL
      B3KTK0
      Related
      ENSP00000354861.2, ENST00000361322.3
      Conserved Domains (1) summary
      cd14166
      Location:19 → 303
      STKc_CaMKI_gamma; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I gamma

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      209583714..209613939
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001866.3 → XP_016857355.1  calcium/calmodulin-dependent protein kinase type 1G isoform X1

      UniProtKB/Swiss-Prot
      Q86UH5, Q96NX5, Q9Y3J7
      UniProtKB/TrEMBL
      B3KTK0
      Related
      ENSP00000009105.1, ENST00000009105.5
      Conserved Domains (1) summary
      cd14166
      Location:19 → 303
      STKc_CaMKI_gamma; Catalytic domain of the Serine/Threonine kinase, Calcium/calmodulin-dependent protein kinase Type I gamma

    2. XM_017001867.2 → XP_016857356.1  calcium/calmodulin-dependent protein kinase type 1G isoform X2

      UniProtKB/TrEMBL
      A0A494C109
      Related
      ENSP00000498823.1, ENST00000651530.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      208830506..208860706
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337798.1 → XP_054193773.1  calcium/calmodulin-dependent protein kinase type 1G isoform X1

      UniProtKB/Swiss-Prot
      Q86UH5, Q96NX5, Q9Y3J7

    2. XM_054337799.1 → XP_054193774.1  calcium/calmodulin-dependent protein kinase type 1G isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96NX5.3 GenPept UniProtKB/Swiss-Prot:Q96NX5

    Gene LinkOut

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