METTL21C methyltransferase 21C, AARS1 lysine [Homo sapiens (human)] - Gene

Summary

Official Symbol: METTL21Cprovided by HGNC
Official Full Name: methyltransferase 21C, AARS1 lysineprovided by HGNC
Primary source: HGNC:HGNC:33717
See related: Ensembl:ENSG00000139780 MIM:615259; AllianceGenome:HGNC:33717
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: C13orf39
Summary: Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine methylation. Located in cytoplasm and nucleus. Part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 13q33.1

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (102685747..102704300, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (101901727..101922383, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (103338097..103347394, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

the polymorphisms and haplotypes of METTL21C contribute to the peak bone mineral density and total fat mass in Chinese males.
Title: Association between SNPs and haplotypes in the METTL21C gene and peak bone mineral density and body composition in Chinese male nuclear families.

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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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G62615 (e-PCR)
- UniSTS:139595

RH45836 (e-PCR)
- UniSTS:84584

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables heat shock protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-lysine N-methyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-lysine N-methyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to dexamethasone stimulus	IEA Inferred from Electronic Annotation more info
involved_in hormone-mediated apoptotic signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-lysine methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IEA Inferred from Electronic Annotation more info
involved_in skeletal muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein-lysine methyltransferase METTL21C

Names: methyltransferase like 21C; methyltransferase-like protein 21C

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)

NM_001010977.3 → NP_001010977.1 protein-lysine methyltransferase METTL21C

See identical proteins and their annotated locations for NP_001010977.1

Status: VALIDATED

Source sequence(s)

AL158063

Consensus CDS

CCDS32003.1

UniProtKB/Swiss-Prot

Q5VZV1

Related

ENSP00000267273.5, ENST00000267273.7

Conserved Domains (1) summary

cl17173
Location:73 → 239

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

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

102685747..102704300 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430117.1 → XP_047286073.1 protein-lysine methyltransferase METTL21C isoform X1

UniProtKB/Swiss-Prot

Q5VZV1

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

101901727..101922383 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374151.1 → XP_054230126.1 protein-lysine methyltransferase METTL21C isoform X1
XM_054374152.1 → XP_054230127.1 protein-lysine methyltransferase METTL21C isoform X1