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

Gene ID: 751071, updated on 2-Nov-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, Nov 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 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)

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 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

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