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

Gene ID: 79823, updated on 2-Nov-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
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Genomic context

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See CAMKMT in Genome Data Viewer
Location:
2p21
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (44361947..44772592)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (44367249..44777914)
RS_2024_09 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 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. Deletion of C2orf34, PREPL and SLC3A1 causes atypical hypotonia-cystinuria syndrome. Chabrol B, et al. J Med Genet, 2008 May. PMID 18234729
  3. 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
  4. Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence. Magen S, et al. PLoS One, 2012. PMID 23285036, Free PMC Article
  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_2024_08

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

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