EEF1AKMT3 EEF1A lysine methyltransferase 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EEF1AKMT3provided by HGNC
Official Full Name: EEF1A lysine methyltransferase 3provided by HGNC
Primary source: HGNC:HGNC:24936
See related: Ensembl:ENSG00000123427 MIM:615258; AllianceGenome:HGNC:24936
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: FAM119B; METTL21B
Summary: Enables heat shock protein binding activity and protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine methylation. Located in several cellular components, including centrosome; chromosome; and nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in thyroid (RPKM 5.3), ovary (RPKM 4.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57772614..57782541)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57740963..57750909)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (58166397..58176324)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

METTL21B is a prognostic biomarker and potential therapeutic target in low-grade gliomas.
Title: METTL21B is a prognostic biomarker and potential therapeutic target in low-grade gliomas.
Results have shown that METTL21B is a protein methyltransferase that methylates both isoforms of translation elongation factor eEF1A at lysine 165. Also, further data suggests that METTL21B has an evolutionarily important role for the methylation of lysine 165 in eEF1A.
Title: METTL21B Is a Novel Human Lysine Methyltransferase of Translation Elongation Factor 1A: Discovery by CRISPR/Cas9 Knockout.
The present study identifies METTL21B as the enzyme responsible for methylation of eEF1A on Lys-165 and shows that this modification is dynamic, inducible and likely of regulatory importance.
Title: The novel lysine specific methyltransferase METTL21B affects mRNA translation through inducible and dynamic methylation of Lys-165 in human eukaryotic elongation factor 1 alpha (eEF1A).
The METTL21B protein is here suggested to be a protein methyltransferase, as it is shown to belong to a family of 10 human methyltransferases, some of which are shown to have lysine specific protein methyltransferase activity.
Title: Lysine methylation of VCP by a member of a novel human protein methyltransferase family.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis.

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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 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

RH45049 (e-PCR)
- UniSTS:31335

RH91309 (e-PCR)
- UniSTS:85161

SHGC-37617 (e-PCR)
- UniSTS:21758

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in peptidyl-lysine methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in peptidyl-lysine methylation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome	IDA Inferred from Direct Assay more info
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 nucleoplasm	IDA Inferred from Direct Assay more info
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: EEF1A lysine methyltransferase 3

Names: eEF1A-KMT3; family with sequence similarity 119, member B; hepatocellular carcinoma-associated antigen 557a; hepatocellularcarcinoma-associated antigen HCA557a; methyltransferase like 21B; methyltransferase-like protein 21B; protein-lysine methyltransferase METTL21B

NP_056248.2

EC 2.1.1.-

NP_996797.1

EC 2.1.1.-

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)

NM_015433.3 → NP_056248.2 EEF1A lysine methyltransferase 3 isoform a

See identical proteins and their annotated locations for NP_056248.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (a).

Source sequence(s)

AL050100, BC016395

Consensus CDS

CCDS8957.1

UniProtKB/Swiss-Prot

Q96AZ1, Q9H749, Q9Y3W2

UniProtKB/TrEMBL

A8K8B1

Related

ENSP00000300209.8, ENST00000300209.13

Conserved Domains (1) summary

cl17173
Location:37 → 195

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). ...
NM_206914.2 → NP_996797.1 EEF1A lysine methyltransferase 3 isoform b

See identical proteins and their annotated locations for NP_996797.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) contains an alternate coding exon compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

AL050100, BC016395

Consensus CDS

CCDS31848.1

UniProtKB/Swiss-Prot

Q96AZ1

Related

ENSP00000327425.5, ENST00000333012.5

Conserved Domains (1) summary

cl17173
Location:37 → 111

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). ...