MIEF1: Mitochondrial Elongation Factor 1
Key regulator of mitochondrial fission and fusion dynamics
Gene Information Card
| Symbol | MIEF1 |
|---|---|
| Full Name | Mitochondrial Elongation Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 54471 ncbi.nlm.nih.gov/gene/54471 |
| Ensembl ID | ENSG00000100335 |
| UniProt ID | Q9NQG6 |
| OMIM ID | 615496 |
| HGNC ID | 20235 |
| Aliases | SMCR7L, MGC12966, MGC12967 |
Description
MIEF1 (Mitochondrial Elongation Factor 1) encodes a protein that localizes to the mitochondrial outer membrane and regulates mitochondrial fission and fusion dynamics. It acts as a receptor for DRP1 (DNM1L), recruiting it to mitochondria to promote fission, but also can inhibit DRP1 activity under certain conditions, thereby modulating mitochondrial morphology. The gene is also known as SMCR7L (Smith-Magenis syndrome chromosome region, candidate 7-like).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Smith-Magenis syndrome (SMS) | MIEF1 is located within the Smith-Magenis syndrome critical region on chromosome 22; deletion or disruption may contribute to neurodevelopmental features. | OMIM #615496; PMID: 23352160 |
| Mitochondrial disorders | Altered MIEF1 expression affects mitochondrial dynamics, potentially contributing to diseases with mitochondrial dysfunction. | UniProt Q9NQG6; PMID: 23352160 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 7.8 | Low |
| Testis | 15.3 | Medium |
| Skeletal muscle | 4.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical cancer cells |
| SH-SY5Y | 14.1 | Neuroblastoma cells |
| HepG2 | 6.5 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon; predicted to affect translation initiation |
| c.287C>T (p.Pro96Leu) | Missense | Rare | Unknown significance; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in MIEF1.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial fission (Reactome: R-HSA-68875)
• Mitochondrial dynamics (KEGG: hsa04141)
Protein Summary
MIEF1 is a 463-amino acid protein (UniProt Q9NQG6) localized to the mitochondrial outer membrane. It contains a transmembrane domain and a C-terminal domain that interacts with DRP1. MIEF1 functions as a receptor for DRP1, recruiting it to mitochondria to promote fission, but also can inhibit DRP1 GTPase activity, thereby balancing mitochondrial fission and fusion. It is expressed in multiple tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIEF1 Knockout HEK293 Cell Line | EDJ-KQ11430 | Human | 54471 | Details Get a Quote |
| MIEF1 Knockout HCT 116 Cell Line | EDJ-KQ38354 | Human | 54471 | Details Get a Quote |
| MIEF1 Knockout A-549 Cell Line | EDJ-KQ39687 | Human | 54471 | Details Get a Quote |
| MIEF1 Knockout HeLa Cell Line | EDJ-KQ39688 | Human | 54471 | Details Get a Quote |
