EEF1A1

eukaryotic translation elongation factor 1 alpha 1

Basic information

Region (hg38): 6:73489308-73525587

Previous symbols: [ "EF1A", "EEF1A", "LENG7" ]

Links

ENSG00000156508NCBI:1915OMIM:130590HGNC:3189Uniprot:P68104AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EEF1A1 gene.

  • not_specified (12 variants)
  • not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EEF1A1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001402.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
2
clinvar
2
missense
13
clinvar
13
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 13 0 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EEF1A1protein_codingprotein_codingENST00000316292 78048
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9790.0214125719091257280.0000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.72902580.3480.00001273012
Missense in Polyphen1667.640.23655940
Synonymous-5.2915691.61.700.00000456921
Loss of Function3.50116.20.06187.45e-7211

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009750.0000905
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00006210.0000615
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: This protein promotes the GTP-dependent binding of aminoacyl-tRNA to the A-site of ribosomes during protein biosynthesis. With PARP1 and TXK, forms a complex that acts as a T helper 1 (Th1) cell-specific transcription factor and binds the promoter of IFN-gamma to directly regulate its transcription, and is thus involved importantly in Th1 cytokine production. {ECO:0000269|PubMed:17177976}.;
Pathway
Legionellosis - Homo sapiens (human);RNA transport - Homo sapiens (human);Translation Factors;Neutrophil degranulation;HSF1 activation;west nile virus;Translation;Cellular responses to stress;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;Cellular responses to external stimuli;EGFR1;Cellular response to heat stress;Protein methylation;Peptide chain elongation;Eukaryotic Translation Elongation (Consensus)

Recessive Scores

pRec
0.696

Intolerance Scores

loftool
0.0919
rvis_EVS
-0.27
rvis_percentile_EVS
33.97

Haploinsufficiency Scores

pHI
0.988
hipred
Y
hipred_score
0.783
ghis
0.644

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
S
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.999

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Eef1a1
Phenotype
immune system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm;

Gene ontology

Biological process
translation;translational elongation;neutrophil degranulation;cellular response to epidermal growth factor stimulus;regulation of chaperone-mediated autophagy
Cellular component
extracellular region;extracellular space;nucleus;nucleolus;cytoplasm;cytosol;eukaryotic translation elongation factor 1 complex;plasma membrane;membrane;cortical actin cytoskeleton;ruffle membrane;secretory granule lumen;extracellular exosome;cytoplasmic side of lysosomal membrane;ficolin-1-rich granule lumen
Molecular function
tRNA binding;RNA binding;translation elongation factor activity;GTPase activity;protein binding;GTP binding;protein kinase binding