Aliases for EEF1AKMT3 Gene
Aliases for EEF1AKMT3 Gene
External Ids for EEF1AKMT3 Gene
- HGNC: 24936
- Entrez Gene: 25895
- Ensembl: ENSG00000123427
- OMIM: 615258
- UniProtKB: Q96AZ1
Previous HGNC Symbols for EEF1AKMT3 Gene
- FAM119B
- METTL21B
Summaries for EEF1AKMT3 Gene
GeneCards Summary for EEF1AKMT3 Gene
EEF1AKMT3 (EEF1A Lysine Methyltransferase 3) is a Protein Coding gene. Diseases associated with EEF1AKMT3 include Combined Oxidative Phosphorylation Deficiency 3. An important paralog of this gene is METTL21A.
UniProtKB/Swiss-Prot for EEF1AKMT3 Gene
-
Protein-lysine methyltransferase that selectively methylates EEF1A1 and EEF1A2 at Lys-165 in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation.
Additional gene information for EEF1AKMT3 Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EEF1AKMT3 Gene
Genomics for EEF1AKMT3 Gene
GeneHancer (GH) Regulatory Elements for EEF1AKMT3 Gene
Promoters and enhancers for EEF1AKMT3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around EEF1AKMT3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for EEF1AKMT3 Gene
Genomic Locations for EEF1AKMT3 Gene
- chr12:57,771,492-57,782,541
- (GRCh38/hg38)
- Size:
- 11,050 bases
- Orientation:
- Plus strand
- chr12:58,165,275-58,176,324
- (GRCh37/hg19)
Genomic View for EEF1AKMT3 Gene
Genes around EEF1AKMT3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q14.1 by Entrez Gene
- 12q14.1 by HGNC
- 12q14.1 by Ensembl
EEF1AKMT3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for EEF1AKMT3 Gene
Proteins for EEF1AKMT3 Gene
-
Protein details for EEF1AKMT3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96AZ1-EFMT3_HUMAN
- Recommended name:
- EEF1A lysine methyltransferase 3
- Protein Accession:
- Q96AZ1
- Q9H749
- Q9Y3W2
Protein attributes for EEF1AKMT3 Gene
- Size:
- 226 amino acids
- Molecular mass:
- 24911 Da
- Quaternary structure:
-
- Interacts with members of the heat shock protein 70 and 90 families and of the TCP-1 chaperonin family, as well as with HSPD1, STIP1 and tubulin; at least some of these proteins may be methylation substrates.
Post-translational modifications for EEF1AKMT3 Gene
Other Protein References for EEF1AKMT3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for EEF1AKMT3
- Invitrogen Antibodies for EEF1AKMT3
- antibodies-online: Search results for 2 available METTL21B Antibodies ranked by validation data
- Compare Top METTL21B Antibodies
-
Quality Products:
- Search GeneTex for Antibodies for EEF1AKMT3
Protein Products
-
OriGene Purified Proteins for EEF1AKMT3
- Search Origene for MassSpec and Protein Over-expression Lysates for EEF1AKMT3
- Origene Custom Protein Services for EEF1AKMT3
- antibodies-online: Search results for 4 available METTL21B Proteins ranked by validation data
- Compare Top METTL21B Proteins
-
Quality Products:
- Search GeneTex for Proteins for EEF1AKMT3
Assay Products
No data available for DME Specific Peptides for EEF1AKMT3 Gene
Domains & Families for EEF1AKMT3 Gene
Gene Families for EEF1AKMT3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for EEF1AKMT3 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for EEF1AKMT3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q96AZ1- Family:
-
- Belongs to the methyltransferase superfamily. METTL21 family.
Function for EEF1AKMT3 Gene
Molecular function for EEF1AKMT3 Gene
- UniProtKB/Swiss-Prot Function:
- Protein-lysine methyltransferase that selectively methylates EEF1A1 and EEF1A2 at Lys-165 in an aminoacyl-tRNA and GTP-dependent manner. EEF1A1 methylation by EEF1AKMT3 is dynamic as well as inducible by stress conditions, such as ER-stress, and plays a regulatory role on mRNA translation.
Enzyme Numbers (IUBMB) for EEF1AKMT3 Gene
Phenotypes From GWAS Catalog for EEF1AKMT3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 23349634 |
| GO:0008168 | methyltransferase activity | IDA,IEA | 28108655 |
| GO:0016279 | protein-lysine N-methyltransferase activity | IDA | 28108655 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0031072 | heat shock protein binding | IPI | 23349634 |
Phenotypes for EEF1AKMT3 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
CRISPR Products
-
OriGene CRISPR knockouts for EEF1AKMT3
- genomics-online: gRNA clones - Search results for available METTL21B gene related products
- Applied Biological Materials CRISPR for EEF1AKMT3
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for EEF1AKMT3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EEF1AKMT3
- Browse OriGene Inhibitory RNA Products For EEF1AKMT3
- genomics-online: shRNA clones - Search results for available METTL21B gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for EEF1AKMT3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EEF1AKMT3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available METTL21B gene related products
- orf clones - Search results for available METTL21B gene related products
- Applied Biological Materials Clones for EEF1AKMT3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for EEF1AKMT3
No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EEF1AKMT3 Gene
Localization for EEF1AKMT3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for EEF1AKMT3 Gene
- Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 3 |
| peroxisome | 1 |
| cytosol | 1 |
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IDA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 23349634 |
| GO:0005813 | centrosome | IDA | 28108655 |
| GO:0005815 | microtubule organizing center | IEA | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
Pathways & Interactions for EEF1AKMT3 Gene
No Data Available
Interacting Proteins for EEF1AKMT3 Gene
GPS-Prot Interaction Network for EEF1AKMT3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0018022 | peptidyl-lysine methylation | IDA | 28108655 |
| GO:0032259 | methylation | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for EEF1AKMT3 Gene
Transcripts for EEF1AKMT3 Gene
mRNA/cDNA for EEF1AKMT3 Gene
- (276) Selected AceView cDNA sequences:
- (2) REFSEQ mRNAs :
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000300209 2563 bps (uc001sqg.4)
- ENST00000333012 2762 bps (uc001sqf.4)
- ENST00000548256 561 bps (uc058qcw.1)
- ENST00000551420 836 bps (uc058qcx.1)
- ENST00000552307 442 bps (uc058qcy.1)
CRISPR Products
-
OriGene CRISPR knockouts for EEF1AKMT3
- genomics-online: gRNA clones - Search results for available METTL21B gene related products
- Applied Biological Materials CRISPR for EEF1AKMT3
-
Vectors and viruses for KO, Activation, Repression, and more
- GenScript: Design CRISPR guide RNA sequences for EEF1AKMT3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EEF1AKMT3
- Browse OriGene Inhibitory RNA Products For EEF1AKMT3
- genomics-online: shRNA clones - Search results for available METTL21B gene related products
Clone Products
- VectorBuilder custom plasmid, inducible vectors for EEF1AKMT3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EEF1AKMT3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available METTL21B gene related products
- orf clones - Search results for available METTL21B gene related products
- Applied Biological Materials Clones for EEF1AKMT3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for EEF1AKMT3 Gene
NURSA nuclear receptor signaling pathways regulating expression of EEF1AKMT3 Gene:
EEF1AKMT3Evidence on tissue expression from TISSUES for EEF1AKMT3 Gene
- Intestine(4.2)
- Lung(4.2)
No Expression Related Data Available
Primer Products
-
OriGene qPCR primer pairs and template standards for EEF1AKMT3
-
OriGene qPCR primer pairs for EEF1AKMT3
- genomics-online: primer clones - Search results for available METTL21B gene related products
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EEF1AKMT3 Gene
Orthologs for EEF1AKMT3 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | METTL21B 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | METTL21B 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | METTL21B 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | LOC679247 33 |
|
||
| mouse (Mus musculus) |
Mammalia | LOC100504608 33 |
|
||
| Mettl21b 34 |
|
OneToOne | |||
| Eef1akmt3 16 |
|
||||
| oppossum (Monodelphis domestica) |
Mammalia | METTL21B 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | METTL21B 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | -- 34 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | METTL21B 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | mettl21b 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | zgc:92518 34 |
|
ManyToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | C42C1.13 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 34 |
|
OneToMany | |
| EFM2 36 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for EEF1AKMT3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for EEF1AKMT3 Gene
- ENSEMBL:
- Gene Tree for EEF1AKMT3 (if available)
- TreeFam:
- Gene Tree for EEF1AKMT3 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for EEF1AKMT3: view image
Paralogs for EEF1AKMT3 Gene
Variants for EEF1AKMT3 Gene
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs10747783 | benign, Combined oxidative phosphorylation deficiency | 57,782,831(+) | T/C | downstream_transcript_variant | |
| rs587777689 | pathogenic, Combined oxidative phosphorylation deficiency 3 | 57,782,862(+) | A/G | downstream_transcript_variant | |
| rs869025542 | uncertain-significance, Skeletal myopathy | 57,782,803(+) | T/G | downstream_transcript_variant | |
| rs983238298 | likely-benign, not specified | 57,782,794(+) | C/A/G | downstream_transcript_variant | |
| rs138461986 | benign, not specified | 57,782,825(+) | C/T | downstream_transcript_variant |
Residual Variation Intolerance Score:
49.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.29;
25.76% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EEF1AKMT3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- EEF1AKMT3
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EEF1AKMT3 Gene
Disorders for EEF1AKMT3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| combined oxidative phosphorylation deficiency 3 |
|
|
Search EEF1AKMT3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for EEF1AKMT3
No data available for UniProtKB/Swiss-Prot and Genatlas for EEF1AKMT3 Gene
Publications for EEF1AKMT3 Gene
- 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). (PMID: 28108655) Malecki J … Falnes PØ (Nucleic acids research 2017) 2 3 4 58
- A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P … Coulombe B (PLoS genetics 2013) 3 4 58
- Lysine methylation of VCP by a member of a novel human protein methyltransferase family. (PMID: 22948820) Kernstock S … Falnes PØ (Nature communications 2012) 3 58
- The multiple sclerosis whole blood mRNA transcriptome and genetic associations indicate dysregulation of specific T cell pathways in pathogenesis. (PMID: 20190274) Gandhi KS … ANZgene Multiple Sclerosis Genetics Consortium (Human molecular genetics 2010) 3 58
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PMID: 19322201) Abdelmohsen K … Gorospe M (The EMBO journal 2009) 3 58
Products for EEF1AKMT3 Gene
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- OriGene Purified Proteins for EEF1AKMT3
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- VectorBuilder custom plasmid, inducible vectors for EEF1AKMT3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for EEF1AKMT3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 2 available METTL21B Antibodies ranked by validation data
- Compare Top METTL21B Antibodies
- Quality Products:
- antibodies-online: Search results for available METTL21B related products ranked by validation data
- antibodies-online: Search results for 4 available METTL21B Proteins ranked by validation data
- Compare Top METTL21B Proteins
- Quality Products:
- Search GeneTex for Antibodies for EEF1AKMT3
- Search GeneTex for Proteins for EEF1AKMT3
- Horizon Cell Lines for EEF1AKMT3
- genomics-online: cdna clones - Search results for available METTL21B gene related products
- orf clones - Search results for available METTL21B gene related products
- genomics-online: gRNA clones - Search results for available METTL21B gene related products
- genomics-online: primer clones - Search results for available METTL21B gene related products
- genomics-online: shRNA clones - Search results for available METTL21B gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for knockout CRISPR/Cas9 clones, lentivirus, and/or AAV products for EEF1AKMT3
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Sources for EEF1AKMT3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
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- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
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- (114) diseasecard
- (115) NIH Rare Diseases
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- (119) Disease Ontology
- (120) Genetics Home Reference
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- (145) dbSUPER
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- (147) Gene ORGANizer
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- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
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- (168) Boster Bio