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

Summary

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. Predicted to be located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary (RPKM 1.7), endometrium (RPKM 1.6) and 25 other tissues See more
Orthologs: all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 11q12.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62665312..62668108)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62654726..62657526)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62432784..62435580)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest that METTL12, localized in mitochondrial matrix, modifies/methylates Lys368 of citrate synthase in external surface region close to its catalytic site; addition/removal of methylation has no effect on citrate synthase activity; Lys368 occurs in highly conserved sequence of amino acid residues of citrate synthase.
Title: Human METTL12 is a mitochondrial methyltransferase that modifies citrate synthase.

Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

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

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

Component	Evidence Code	Pubs
located_in mitochondrion	IEA Inferred from Electronic Annotation more info

General protein information

Go to the top of the page Help

Preferred Names: citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial

Names: methyltransferase like 12; methyltransferase-like protein 12, mitochondrial

NP_001036694.1

EC 2.1.1.-

XP_005274289.1

EC 2.1.1.-

XP_054225838.1

EC 2.1.1.-

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

62665312..62668108

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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