EEF1AKMT2 EEF1A lysine methyltransferase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EEF1AKMT2provided by HGNC
Official Full Name: EEF1A lysine methyltransferase 2provided by HGNC
Primary source: HGNC:HGNC:33787
See related: Ensembl:ENSG00000203791 MIM:617794; AllianceGenome:HGNC:33787
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: Efm4; METTL10; C10orf138
Summary: Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine methylation. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis (RPKM 5.1), thyroid (RPKM 4.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q26.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (124756253..124791887, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (125637262..125672952, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (126446403..126480456, complement)

Chromosome 10 - NC_000010.11 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
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?

Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.

Submit: New GeneRIF Correction

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

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

D10S1451 (e-PCR)
- UniSTS:54860

RH102638 (e-PCR)
- UniSTS:96972

Clone Names

FLJ13019, MGC26857, DKFZp667O2018, Em:AC068896.3

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone methyltransferase activity	IEA Inferred from Electronic Annotation more info
enables methyltransferase activity	IDA Inferred from Direct Assay 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	TAS Traceable Author Statement more info

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

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: EEF1A lysine methyltransferase 2

Names: eukaryotic translation elongation factor 1 alpha lysine methyltransferase 2; methyltransferase like 10; methyltransferase-like protein 10; protein-lysine N-methyltransferase METTL10

NP_001291396.1

EC 2.1.1.-

NP_001291397.1

EC 2.1.1.-

NP_001403172.1

EC 2.1.1.-

NP_997719.2

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_001304467.2 → NP_001291396.1 EEF1A lysine methyltransferase 2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) initates translation at an alternate start codon and uses an alternate splice donor site in the 5' coding region compared to variant (1). It encodes isoform 2, which has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AA776892, AC068896, AK022354, AL832292, HY048148

UniProtKB/Swiss-Prot

Q5JPI9

Conserved Domains (2) summary

COG0500
Location:2 → 116

SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]

cl17173
Location:22 → 110

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_001304468.2 → NP_001291397.1 EEF1A lysine methyltransferase 2 isoform 3

Status: VALIDATED

Description

Transcript Variant: This variant (3) initates translation at an alternate start codon, uses an alternate splice donor site in the 5' coding region, and lacks an exon in the 3' coding region compared to variant 1. It encodes isoform 3, which is shorter and has distinct N- and C-termini compared to isoform 1.

Source sequence(s)

AA776892, AC068896, AF318345, AK022354, BI551093, HY048148

UniProtKB/TrEMBL

Q8WYV4

Conserved Domains (1) summary

cl17173
Location:25 → 136

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_001416243.1 → NP_001403172.1 EEF1A lysine methyltransferase 2 isoform 4

Status: VALIDATED

Source sequence(s)

AC068896

UniProtKB/TrEMBL

A0A494BZY7, H3BQF6

Related

ENSP00000498289.1, ENST00000652548.3
NM_212554.4 → NP_997719.2 EEF1A lysine methyltransferase 2 isoform 1

See identical proteins and their annotated locations for NP_997719.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AA776892, AC068896, AK022354, AL832292, BC026167, HY048148

Consensus CDS

CCDS31307.1

UniProtKB/Swiss-Prot

A8MPY7, Q5JPI9

Related

ENSP00000357829.2, ENST00000368836.7

Conserved Domains (2) summary

COG0500
Location:34 → 194

SmtA; SAM-dependent methyltransferase [Secondary metabolites biosynthesis, transport and catabolism, General function prediction only]

pfam13847
Location:80 → 188

Methyltransf_31; Methyltransferase domain