EEF1D

Chr 8AR

eukaryotic translation elongation factor 1 delta

Also known as: EF-1D, EF1D, FP1047, NEDTCHAL

NCBI Gene: 1936 ENSG00000104529 UniProt: P29692 OMIM: 130592

The protein functions as a guanine nucleotide exchange factor within the elongation factor-1 complex, stimulating GDP to GTP exchange to regenerate EF-1-alpha for delivering aminoacyl tRNAs to the ribosome during protein synthesis. Biallelic mutations cause an autosomal recessive neurodevelopmental disorder characterized by thin corpus callosum, hypotonia, and absent language development. The gene shows low constraint against loss-of-function variants (LOEUF 0.838), suggesting some tolerance to heterozygous disruption.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit, delta, functions as guanine nucleotide exchange factor. It is reported that following HIV-1 infection, this subunit interacts with HIV-1 Tat. This interaction results in repression of translation of host cell proteins and enhanced translation of viral proteins. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. Related pseudogenes have been defined on chromosomes 1, 6, 7, 9, 11, 13, 17, 19.[provided by RefSeq, Aug 2010]

OMIM ResearchGenerating clinical summary…

DNmechanismARLOEUF 0.841 OMIM phenotype

Clinical Summary— EEF1D

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.84LOEUF

pLI 0.000

Z-score 2.20

OE 0.54 (0.35–0.84)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.08Z-score

OE missense 1.01 (0.93–1.10)

409 obs / 404.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.54 (0.35–0.84)

0≤0.351.4

Missense OE?1.01 (0.93–1.10)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 14 / 26.1Missense obs/exp: 409 / 404.4Syn Z: -1.12

This gene — mechanism propensity

0.7034th %ile

GOF

0.4184th %ile

LOF

0.3261th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.