SLC25A33: Solute Carrier Family 25 Member 33
Mitochondrial pyrimidine nucleotide carrier (PNC1) involved in nucleotide transport and mitochondrial DNA maintenance
Gene Information Card
| Symbol | SLC25A33 |
|---|---|
| Full Name | Solute carrier family 25 member 33 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 84275 ncbi.nlm.nih.gov/gene/84275 |
| Ensembl ID | ENSG00000171612 |
| UniProt ID | Q9BZJ4 |
| OMIM ID | 610815 |
| HGNC ID | 29661 |
| Aliases | PNC1, MGC2615 |
Description
SLC25A33 encodes the mitochondrial pyrimidine nucleotide carrier 1 (PNC1), a member of the SLC25 mitochondrial carrier family. The protein transports pyrimidine nucleotides (UMP, CMP, dUMP, dCMP) across the inner mitochondrial membrane, essential for mitochondrial DNA replication and repair. It is ubiquitously expressed with highest levels in tissues with high metabolic demand.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial DNA depletion syndrome | Impaired pyrimidine nucleotide transport leads to reduced mitochondrial dNTP pools, compromising mtDNA replication | PMID: 21549344 |
| Cancer (colorectal, breast) | Altered SLC25A33 expression affects mitochondrial nucleotide supply, influencing tumor proliferation and chemoresistance | PMID: 23431136 |
| Developmental delay / encephalopathy | Homozygous loss-of-function variants cause severe neurological phenotypes with mtDNA depletion | PMID: 28424221 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 9.8 | Medium |
| Liver | 7.2 | Medium |
| Brain | 6.1 | Low |
| Kidney | 5.4 | Low |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 12.8 | High expression |
| HepG2 | 10.1 | Medium expression |
| K562 | 8.5 | Medium expression |
| A549 | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.650G>A (p.Arg217His) | Missense | <0.01% | Reduced transport activity; associated with mitochondrial disease |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression; severe phenotype |
| c.748C>T (p.Arg250*) | Nonsense | <0.01% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants impair pyrimidine nucleotide transport, leading to mtDNA depletion and mitochondrial dysfunction.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial pyrimidine nucleotide transport
• Pyrimidine metabolism
• Mitochondrial DNA replication
Protein Summary
SLC25A33 (PNC1) is a 364-amino acid mitochondrial inner membrane carrier with six transmembrane helices. It functions as a homodimer to exchange cytosolic pyrimidine nucleotides for mitochondrial nucleotides, maintaining the dNTP pool required for mtDNA synthesis. The protein is essential for mitochondrial genome stability and cellular energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A33 Knockout HEK293 Cell Line | EDJ-KQ51827 | Human | 84275 | Details Get a Quote |
| SLC25A33 Knockout HeLa Cell Line | EDJ-KQ57567 | Human | 84275 | Details Get a Quote |
| SLC25A33 Knockout A-549 Cell Line | EDJ-KQ66064 | Human | 84275 | Details Get a Quote |
| SLC25A33 Knockout HCT 116 Cell Line | EDJ-KQ74486 | Human | 84275 | Details Get a Quote |
