IMMP1L Gene
Inner Mitochondrial Membrane Peptidase Subunit 1 Like
Gene Information Card
| Symbol | IMMP1L |
|---|---|
| Full Name | Inner Mitochondrial Membrane Peptidase Subunit 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 196294 ncbi.nlm.nih.gov/gene/196294 |
| Ensembl ID | ENSG00000196576 |
| UniProt ID | Q96LU5 |
| OMIM ID | 618827 |
| HGNC ID | 28598 |
| Aliases | IMP1-like, IMPAS-1, MIMP1 |
Description
IMMP1L encodes a subunit of the inner mitochondrial membrane peptidase (IMP) complex, which is responsible for cleaving signal peptides from nuclear-encoded mitochondrial proteins after their import into the mitochondrial intermembrane space. The protein is localized to the inner mitochondrial membrane and is essential for processing of mitochondrial precursor proteins, including those involved in oxidative phosphorylation and mitochondrial dynamics.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Impaired processing of mitochondrial precursor proteins may lead to defective complex I assembly | ClinVar: uncertain significance variants reported |
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Potential loss-of-function affecting mitochondrial protein maturation | OMIM: 618827 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 7.4 | Low expression |
| K562 | 5.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153Trp) | Missense | <0.01% | ClinVar: uncertain significance |
| c.832G>A (p.Gly278Arg) | Missense | <0.01% | ClinVar: uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Homozygous loss-of-function variants may impair mitochondrial protein processing, leading to respiratory chain defects.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial inner membrane | • metallopeptidase activity |
| • protein processing | • mitochondrial protein import |
Pathways
• Mitochondrial protein import
• Oxidative phosphorylation
Protein Summary
IMMP1L is a 17.5 kDa protein (153 amino acids) that forms part of the IMP complex in the inner mitochondrial membrane. It contains a zinc-binding motif characteristic of metallopeptidases and is involved in the cleavage of mitochondrial targeting signals. The protein is ubiquitously expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IMMP1L Knockout HEK293 Cell Line | EDJ-KQ13831 | Human | 196294 | Details Get a Quote |
| IMMP1L Knockout A-549 Cell Line | EDJ-KQ43657 | Human | 196294 | Details Get a Quote |
| IMMP1L Knockout HCT 116 Cell Line | EDJ-KQ43658 | Human | 196294 | Details Get a Quote |
| IMMP1L Knockout HeLa Cell Line | EDJ-KQ43659 | Human | 196294 | Details Get a Quote |
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