SLC25A53: Solute Carrier Family 25 Member 53
Mitochondrial Carrier Protein with Emerging Roles in Metabolism and Disease
Gene Information Card
| Symbol | SLC25A53 |
|---|---|
| Full Name | Solute Carrier Family 25 Member 53 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.3 |
| NCBI Gene ID | 284948 ncbi.nlm.nih.gov/gene/284948 |
| Ensembl ID | ENSG00000147119 |
| UniProt ID | Q8N5K1 |
| OMIM ID | 300926 |
| HGNC ID | 26005 |
| Aliases | MGC12972, MGC12973 |
Description
SLC25A53 encodes a member of the SLC25 mitochondrial carrier family. The protein is predicted to transport metabolites across the inner mitochondrial membrane. Its exact substrate is unknown, but it is implicated in cellular metabolism and has been linked to certain cancers and metabolic disorders based on expression and mutation data.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect mitochondrial metabolism and apoptosis | COSMIC mutation data; differential expression in tumor vs normal tissues |
| Metabolic disorders | Potential role in mitochondrial substrate transport | Inferred from family homology; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Low |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.3 | Low |
| Heart | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical cancer cells |
| HepG2 | 7.8 | Liver cancer cells |
| K562 | 6.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown; predicted benign |
| c.100C>T | Missense | <0.01% | Unknown; predicted tolerated |
| c.200G>A | Missense | <0.01% | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • integral component of membrane (GO:0016021) |
| • mitochondrial phosphate transmembrane transporter activity (GO:0005315) | • transmembrane transport (GO:0055085) |
Pathways
• Mitochondrial transport (Reactome: R-HSA-1268020)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
SLC25A53 is a 298-amino acid mitochondrial carrier protein with six transmembrane domains. It belongs to the SLC25 family, which transports various metabolites across the inner mitochondrial membrane. The specific substrate of SLC25A53 remains unidentified, but structural homology suggests it may transport nucleotides or cofactors. Expression is low across most tissues, with highest levels in testis. Mutations are rare and of uncertain significance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A53 Knockout HEK293 Cell Line | EDJ-KQ11650 | Human | 401612 | Details Get a Quote |
| SLC25A53 Knockout A-549 Cell Line | EDJ-KQ40004 | Human | 401612 | Details Get a Quote |
| SLC25A53 Knockout HCT 116 Cell Line | EDJ-KQ40005 | Human | 401612 | Details Get a Quote |
| SLC25A53 Knockout HeLa Cell Line | EDJ-KQ40006 | Human | 401612 | Details Get a Quote |
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