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    CSKMT citrate synthase lysine methyltransferase [ Homo sapiens (human) ]

    Gene ID: 751071, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CSKMTprovided by HGNC
    Official Full Name
    citrate synthase lysine methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:33113
    See related
    Ensembl:ENSG00000214756 MIM:617897; AllianceGenome:HGNC:33113
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    U99HG; CS-KMT; METTL12
    Summary
    Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine dimethylation; peptidyl-lysine monomethylation; and peptidyl-lysine trimethylation. Located in mitochondrion. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 1.7), endometrium (RPKM 1.6) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See CSKMT in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (62665312..62668108)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (62654726..62657526)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62432784..62435580)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene integrator complex subunit 5 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:62420185-62420944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3424 Neighboring gene chromosome 11 open reading frame 98 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4834 Neighboring gene LBH domain containing 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4835 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4837 Neighboring gene small nucleolar RNA, H/ACA box 57 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62437829-62438570 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62438571-62439310 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:62439311-62440052 Neighboring gene ubiquinol-cytochrome c reductase complex assembly factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4839 Neighboring gene UBX domain protein 1

    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. Human METTL12 is a mitochondrial methyltransferase that modifies citrate synthase. Rhein VF, et al. FEBS Lett, 2017 Jun. PMID 28391595, Free PMC Article
    2. Uncovering human METTL12 as a mitochondrial methyltransferase that modulates citrate synthase activity through metabolite-sensitive lysine methylation. Małecki J, et al. J Biol Chem, 2017 Oct 27. PMID 28887308, Free PMC Article
    3. Mammalian small nucleolar RNAs are mobile genetic elements. Weber MJ. PLoS Genet, 2006 Dec 8. PMID 17154719, Free PMC Article
    4. Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes. Choy KW, et al. Physiol Genomics, 2006 Mar 13. PMID 16368877
    5. Human chromosome 11 DNA sequence and analysis including novel gene identification. Taylor TD, et al. Nature, 2006 Mar 23. PMID 16554811

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein-lysine N-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-lysine N-methyltransferase activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in peptidyl-lysine dimethylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-lysine monomethylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptidyl-lysine trimethylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in tricarboxylic acid cycle TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial
    Names
    methyltransferase like 12
    methyltransferase-like protein 12, mitochondrial
    NP_001036694.1
    XP_005274289.1
    XP_054225838.1

    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_001043229.2 → NP_001036694.1  citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial precursor

      See identical proteins and their annotated locations for NP_001036694.1

      Status: VALIDATED

      Source sequence(s)
      AP001458, BG676615, BX348415, BY796224
      Consensus CDS
      CCDS41657.1
      UniProtKB/Swiss-Prot
      A8MUP2, B7Z4C1
      Related
      ENSP00000431287.1, ENST00000532971.2
      Conserved Domains (1) summary
      pfam13847
      Location:75 → 196
      Methyltransf_31; Methyltransferase 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      62665312..62668108
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005274232.6 → XP_005274289.1  citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial isoform X1

      Conserved Domains (1) summary
      pfam13847
      Location:198 → 319
      Methyltransf_31; Methyltransferase domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      62654726..62657526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369863.1 → XP_054225838.1  citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A8MUP2.1 GenPept UniProtKB/Swiss-Prot:A8MUP2

    Gene LinkOut

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