MIEF1

Chr 22q13.1

mitochondrial elongation factor 1

Aliases:: FLJ20232, MiD51, L0R8F8, D3A
MANE:: ENST00000325301.7

OMIM: 615497 ↗NCBI: 54471 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MIEF1 · L0R8F8

v62025-08-01

Predicted Aligned Error matrix for MIEF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.0/ 100

Confident

70 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)29%
Low(50–70)4%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Optic neuropathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

optic atrophy 14
0.57
urolithiasis
0.22
alcohol drinking
0.22
Retinal dystrophy
0.17
optic atrophy
0.11
liver cancer
0.06
pigmented nodular adrenocortical disease, primary, 3
0.05
primary pigmented nodular adrenocortical disease
0.05
adrenal cortex carcinoma
0.05
adrenocortical carcinoma, hereditary
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mitochondrial ribosome and complex I assembly factor AltMIEF1

Assembly factor involved in the biogenesis of the mitochondrial-specific ribosomes (mitoribosomes) (PubMed:28892042, PubMed:30215512, PubMed:31666358). Specifically associates with intermediates of the mitochondrial ribosome large subunit (mt-LSU) and is required for proper ribosome assembly, possibly preventing premature association of the large and small ribosomal subunits (PubMed:28892042, PubMed:30215512, PubMed:31666358). Thereby, indirectly regulates mitochondrial translation (PubMed:28892042, PubMed:30215512, PubMed:31666358). It is also required for complete assembly of the mitochondrial respiratory chain complex I (PubMed:31666358). May also function in DNM1L-mediated mitochondrial fission (PubMed:29083303)