PRELID1
PRELI domain containing 1
Gene Information Card
| Symbol | PRELID1 |
|---|---|
| Full Name | PRELI domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 27166 ncbi.nlm.nih.gov/gene/27166 |
| Ensembl ID | ENSG00000164190 |
| UniProt ID | Q9Y2G2 |
| OMIM ID | 615344 |
| HGNC ID | 30284 |
| Aliases | CGI-106, PRELI, SMDC1 |
Description
PRELID1 encodes a protein containing the PRELI domain, localized to mitochondria. It is involved in lipid transport and mitochondrial function, particularly in the transfer of phosphatidic acid between membranes. The gene is ubiquitously expressed with highest levels in heart and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spastic paraplegia 18 (SPG18) | Loss-of-function mutations in PRELID1 impair mitochondrial lipid homeostasis, leading to axonal degeneration. | ClinVar, OMIM |
| Complex V deficiency (mitochondrial) | Disruption of PRELID1 affects ATP synthase assembly/stability via altered cardiolipin metabolism. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 28.5 | High |
| Skeletal Muscle | 22.3 | High |
| Liver | 10.1 | Medium |
| Brain | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Moderate expression |
| HEK293 | 12.4 | Moderate expression |
| K562 | 8.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.152G>A (p.Arg51Gln) | Missense | <0.01% | Loss of function; associated with SPG18 |
| c.278T>C (p.Leu93Pro) | Missense | <0.01% | Impaired protein stability; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg51Gln) reduce lipid transfer activity, leading to mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion | • lipid transport |
| • phosphatidic acid binding | • mitochondrial inner membrane |
Pathways
• Mitochondrial lipid metabolism
• Cardiolipin biosynthesis
Protein Summary
PRELID1 is a 152-amino acid mitochondrial protein that functions as a phosphatidic acid transfer protein. It is essential for mitochondrial membrane integrity and ATP production. Mutations cause autosomal recessive spastic paraplegia 18.
Related Services
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|---|---|---|---|---|
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