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    CAMKMT calmodulin-lysine N-methyltransferase [ Homo sapiens (human) ]

    Gene ID: 79823, updated on 11-Apr-2024

    Summary

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    Official Symbol
    CAMKMTprovided by HGNC
    Official Full Name
    calmodulin-lysine N-methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:26276
    See related
    Ensembl:ENSG00000143919 MIM:609559; AllianceGenome:HGNC:26276
    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
    Cam; KMT; CLNMT; C2orf34; CaM KMT
    Summary
    This gene encodes a class I protein methyltransferase that acts in the formation of trimethyllysine in calmodulin. The protein contains a AdoMet-binding motif and may play a role in calcium-dependent signaling. [provided by RefSeq, Sep 2012]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2p21
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (44361947..44772592)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (44367249..44777914)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (44589086..44999731)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:44513823-44514378 Neighboring gene ribosomal protein L12 pseudogene 19 Neighboring gene solute carrier family 3 member 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:44558969-44559142 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:44588276-44589475 Neighboring gene prolyl endopeptidase like Neighboring gene MPRA-validated peak3688 silencer Neighboring gene uncharacterized LOC124905998 Neighboring gene uncharacterized LOC124907759 Neighboring gene uncharacterized LOC124905999 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:44689999-44690600 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:44690601-44691200 Neighboring gene uncharacterized LOC124907758 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:44771195-44771973 Neighboring gene Sharpr-MPRA regulatory region 6726 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:44816361-44817060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11432 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:44907608-44908156 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:45014758-45015258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:45015259-45015759 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:45017091-45017794 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:45028054-45028854 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:45028855-45029655 Neighboring gene VISTA enhancer hs541 Neighboring gene uncharacterized LOC105374573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15686 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:45089860-45089961 Neighboring gene VISTA enhancer hs149 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:45153974-45154534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:45164020-45164553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:45164554-45165086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11434 Neighboring gene long intergenic non-protein coding RNA 1833

    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. Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin. Magnani R, et al. Nat Commun, 2010 Jul 27. PMID 20975703
    2. Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. Bartholdi D, et al. Am J Med Genet A, 2013 Aug. PMID 23794250
    3. Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence. Magen S, et al. PLoS One, 2012. PMID 23285036, Free PMC Article
    4. Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. Chabrol B, et al. J Med Genet, 2008 May. PMID 18234729
    5. Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair. Huang CC, et al. BMC Mol Biol, 2009 Jul 3. PMID 19575798, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deletion of CAMKMT is associated with Hypotonia-cystinuria syndrome.
      Title: Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria.
    2. The CaM KMT is the major, possibly the single, methyltransferase of calmodulin in human cells with a wide tissue distribution and is a novel Hsp90 client protein.
      Title: Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence.
    3. Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin.
      Title: Calmodulin methyltransferase is an evolutionarily conserved enzyme that trimethylates Lys-115 in calmodulin.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    5. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.
    6. Two key transcription factors, NRF-2 and YY-1, were further identified to coordinately participate in driving gene expressions of PREPL-C2ORF34 genes pairin an additive manner.
      Title: Cooperation between NRF-2 and YY-1 transcription factors is essential for triggering the expression of the PREPL-C2ORF34 bidirectional gene pair.
    7. a deletion of C2orf34 causes atypical hypotonia-cystinuria syndrome
      Title: Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome.
    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
    A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
    EBI GWAS Catalog
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    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

    • FLJ23451

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin-lysine N-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calmodulin-lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables heat shock protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrion organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of opsin-mediated signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    calmodulin-lysine N-methyltransferase
    NP_079042.1
    XP_011531413.1
    XP_011531415.1
    XP_016860471.1
    XP_047301834.1
    XP_047301835.1
    XP_047301836.1
    XP_047301837.1
    XP_054199962.1
    XP_054199963.1
    XP_054199964.1
    XP_054199965.1
    XP_054199966.1
    XP_054199967.1
    XP_054199968.1

    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.

    Genomic

    1. NG_032944.1 RefSeqGene

      Range
      5044..415689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024766.5 → NP_079042.1  calmodulin-lysine N-methyltransferase

      See identical proteins and their annotated locations for NP_079042.1

      Status: REVIEWED

      Source sequence(s)
      AI933944, AK027104, DA760277
      Consensus CDS
      CCDS1820.1
      UniProtKB/Swiss-Prot
      Q4ZG15, Q53SS6, Q7Z624, Q8N6P5, Q9H5G8
      Related
      ENSP00000367755.3, ENST00000378494.8
      Conserved Domains (1) summary
      cl17173
      Location:113 → 278
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      44361947..44772592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445878.1 → XP_047301834.1  calmodulin-lysine N-methyltransferase isoform X1

    2. XM_011533111.3 → XP_011531413.1  calmodulin-lysine N-methyltransferase isoform X2

      Conserved Domains (1) summary
      cl17173
      Location:113 → 232
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    3. XM_047445879.1 → XP_047301835.1  calmodulin-lysine N-methyltransferase isoform X3

    4. XM_017004982.3 → XP_016860471.1  calmodulin-lysine N-methyltransferase isoform X4

    5. XM_011533113.3 → XP_011531415.1  calmodulin-lysine N-methyltransferase isoform X5

      See identical proteins and their annotated locations for XP_011531415.1

      Conserved Domains (1) summary
      cl17173
      Location:2 → 122
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    6. XM_047445880.1 → XP_047301836.1  calmodulin-lysine N-methyltransferase isoform X5

    7. XM_047445881.1 → XP_047301837.1  calmodulin-lysine N-methyltransferase isoform X5

    RNA

    1. XR_939723.2 RNA Sequence

    2. XR_007081736.1 RNA Sequence

    3. XR_939722.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      44367249..44777914
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343987.1 → XP_054199962.1  calmodulin-lysine N-methyltransferase isoform X1

    2. XM_054343988.1 → XP_054199963.1  calmodulin-lysine N-methyltransferase isoform X2

    3. XM_054343989.1 → XP_054199964.1  calmodulin-lysine N-methyltransferase isoform X3

    4. XM_054343990.1 → XP_054199965.1  calmodulin-lysine N-methyltransferase isoform X4

    5. XM_054343991.1 → XP_054199966.1  calmodulin-lysine N-methyltransferase isoform X5

    6. XM_054343992.1 → XP_054199967.1  calmodulin-lysine N-methyltransferase isoform X5

    7. XM_054343993.1 → XP_054199968.1  calmodulin-lysine N-methyltransferase isoform X5

    RNA

    1. XR_008486523.1 RNA Sequence

    2. XR_008486521.1 RNA Sequence

    3. XR_008486522.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z624.2 GenPept UniProtKB/Swiss-Prot:Q7Z624

    Gene LinkOut

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