PTCD1: Pentatricopeptide Repeat Domain 1
Mitochondrial RNA Processing and Disease-Associated Gene
Gene Information Card
| Symbol | PTCD1 |
|---|---|
| Full Name | Pentatricopeptide Repeat Domain 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 26024 ncbi.nlm.nih.gov/gene/26024 |
| Ensembl ID | ENSG00000106211 |
| UniProt ID | O75127 |
| OMIM ID | 614417 |
| HGNC ID | 26301 |
| Aliases | PPR1, FLJ20487 |
Description
PTCD1 (Pentatricopeptide Repeat Domain 1) encodes a mitochondrial protein containing pentatricopeptide repeats (PPR) that is involved in RNA processing and translation within mitochondria. It binds to specific mitochondrial transcripts and is essential for the maturation of mitochondrial tRNAs and mRNAs. Mutations in PTCD1 are associated with mitochondrial dysfunction and have been linked to neurodegenerative and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex I deficiency | Impaired mitochondrial RNA processing leads to defective complex I assembly | ClinVar, OMIM |
| Combined oxidative phosphorylation deficiency | Disruption of PTCD1 affects multiple mitochondrial translation steps | OMIM, PubMed |
| Leigh syndrome | Mitochondrial dysfunction due to PTCD1 mutations contributes to neurodegeneration | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.8 | Medium |
| Liver | 8.2 | Medium |
| Brain | 6.4 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | High expression |
| HEK293 | 11.2 | Moderate expression |
| K562 | 9.8 | Moderate expression |
| HepG2 | 8.5 | 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% | Loss of start codon, likely loss of function |
| c.154C>T (p.Arg52Trp) | Missense | <0.01% | Altered RNA binding, reduced mitochondrial function |
| c.325G>A (p.Gly109Ser) | Missense | <0.01% | Impaired protein stability |
Mutation functional classification
Loss of Function (LOF)
Most PTCD1 mutations result in loss of function due to impaired RNA binding or protein instability, leading to mitochondrial translation defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for PTCD1.
Dominant Negative (DN)
No dominant-negative mutations have been described for PTCD1.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mitochondrial RNA processing |
| • mitochondrial translation | • pentatricopeptide repeat domain binding |
| • mitochondrion |
Pathways
• Mitochondrial RNA metabolism
• Mitochondrial translation
• Oxidative phosphorylation
Protein Summary
PTCD1 is a 599-amino acid mitochondrial protein with multiple pentatricopeptide repeats that mediate sequence-specific RNA binding. It localizes to the mitochondrial matrix and is required for the processing and stability of mitochondrial tRNAs and mRNAs, particularly those encoding subunits of complex I. Loss of PTCD1 function disrupts mitochondrial protein synthesis and leads to respiratory chain deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTCD1 Knockout HEK293 Cell Line | EDJ-KQ51158 | Human | 26024 | Details Get a Quote |
| PTCD1 Knockout HeLa Cell Line | EDJ-KQ55868 | Human | 26024 | Details Get a Quote |
| PTCD1 Knockout A-549 Cell Line | EDJ-KQ64358 | Human | 26024 | Details Get a Quote |
| PTCD1 Knockout HCT 116 Cell Line | EDJ-KQ72807 | Human | 26024 | Details Get a Quote |
