GRPEL1
GrpE Like 1, Mitochondrial
Gene Information Card
| Symbol | GRPEL1 |
|---|---|
| Full Name | GrpE Like 1, Mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 80273 ncbi.nlm.nih.gov/gene/80273 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q9HAV7 |
| OMIM ID | 617523 |
| HGNC ID | 28487 |
| Aliases | FLJ12606, MGC131891 |
Description
GRPEL1 encodes a mitochondrial protein that functions as a nucleotide exchange factor for the mitochondrial heat shock protein 70 (HSPA9). It is involved in protein import and folding within the mitochondria, playing a critical role in mitochondrial protein homeostasis and stress response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial disease (general) | Impaired mitochondrial protein import/folding due to GRPEL1 dysfunction | Limited; case reports and functional studies suggest association |
| Cancer (various types) | Altered mitochondrial stress response may contribute to tumorigenesis | Inferred from expression studies in COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Liver | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Brain | 5.2 | Low |
| Skeletal Muscle | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| HepG2 | 7.5 | Moderate expression |
| K562 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function; start codon loss |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown significance; predicted damaging |
Mutation functional classification
Loss of Function (LOF)
Predicted for start codon loss and truncating variants
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrion | • Protein folding |
| • ATP binding | • Nucleotide exchange factor activity |
| • Response to stress |
Pathways
• Mitochondrial protein import
• HSP70 chaperone cycle
Protein Summary
GRPEL1 is a 217-amino acid mitochondrial protein that acts as a nucleotide exchange factor for HSPA9 (mortalin). It facilitates the release of ADP from HSPA9, allowing ATP binding and subsequent protein substrate release. This function is essential for proper mitochondrial protein folding and import.
Related Services
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|---|---|---|---|---|
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