SLC25A51: Mitochondrial NAD+ Transporter Gene
SLC25A51 encodes a mitochondrial carrier protein that imports NAD+ into mitochondria, essential for cellular metabolism and implicated in cancer and metabolic disorders.
Gene Information Card
| Symbol | SLC25A51 |
|---|---|
| Full Name | Solute carrier family 25 member 51 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p24.1 (GRCh38) |
| NCBI Gene ID | 284427 ncbi.nlm.nih.gov/gene/284427 |
| Ensembl ID | ENSG00000183093 |
| UniProt ID | Q9H1C7 |
| OMIM ID | 616025 |
| HGNC ID | 29082 |
| Aliases | CGI-46, FLJ20520, MGC11102 |
Description
SLC25A51 (Solute Carrier Family 25 Member 51) is a nuclear-encoded mitochondrial inner membrane protein that functions as a transporter for nicotinamide adenine dinucleotide (NAD+) into the mitochondrial matrix. It is a member of the SLC25 mitochondrial carrier family and is essential for maintaining mitochondrial NAD+ pools, which are critical for oxidative phosphorylation, the tricarboxylic acid (TCA) cycle, and redox homeostasis. SLC25A51 is ubiquitously expressed and has been implicated in cancer cell proliferation and metabolic reprogramming.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | SLC25A51 overexpression enhances mitochondrial NAD+ uptake, supporting tumor growth and metabolic flexibility. | COSMIC: somatic mutations and copy number alterations in multiple cancer types; PubMed studies (e.g., Luongo et al., 2020) |
| Mitochondrial NAD+ deficiency | Loss-of-function mutations reduce mitochondrial NAD+ import, impairing mitochondrial respiration and ATP production. | ClinVar: rare variants; functional studies in cell models (Girardi et al., 2020) |
| Metabolic disorders | Altered SLC25A51 expression may affect NAD+ homeostasis, contributing to metabolic dysregulation. | OMIM: no direct disease association yet; inferred from functional studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Heart | 10.5 | Medium |
| Brain | 8.3 | Low |
| Testis | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression |
| HepG2 | 14.2 | Medium expression |
| A549 | 12.0 | Medium expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | Rare (ClinVar) | Likely loss-of-function; reduced NAD+ transport |
| c.784C>T (p.Arg262Trp) | Missense | Rare (ClinVar) | Uncertain significance; potential impact on protein stability |
| c.1021A>G (p.Thr341Ala) | Missense | Somatic (COSMIC) | Possible gain-of-function; observed in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair NAD+ transport, leading to reduced mitochondrial NAD+ levels and compromised respiration.
Gain of Function (GOF)
Mutations that increase NAD+ transport activity, potentially promoting cancer cell proliferation.
Dominant Negative (DN)
No evidence for dominant-negative effects; SLC25A51 functions as a homodimer, but no such mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015297 (antiporter activity) | • GO:0005488 (binding) |
| • GO:0005743 (mitochondrial inner membrane) | • GO:0006810 (transport) |
| • GO:0006091 (generation of precursor metabolites and energy) | • GO:0005739 (mitochondrion) |
Pathways
• Mitochondrial NAD+ transport
• Nicotinate and nicotinamide metabolism
• Oxidative phosphorylation
• TCA cycle
Protein Summary
SLC25A51 is a 340-amino acid protein with six transmembrane domains, localized to the mitochondrial inner membrane. It forms a homodimer and mediates the import of NAD+ into the mitochondrial matrix, a rate-limiting step for mitochondrial metabolism. The protein is ubiquitously expressed, with highest levels in testis and liver. It plays a critical role in maintaining mitochondrial NAD+ pools, which are essential for dehydrogenase reactions, sirtuin activity, and ATP production. SLC25A51 has been shown to be overexpressed in certain cancers, where it supports tumor growth by enhancing mitochondrial NAD+ uptake.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A51 Knockout HEK293 Cell Line | EDC90304 | Human | 92014 | Details Get a Quote |
| SLC25A51 Knockout HeLa Cell Line | EDJ-KQ57822 | Human | 92014 | Details Get a Quote |
| SLC25A51 Knockout A-549 Cell Line | EDJ-KQ66319 | Human | 92014 | Details Get a Quote |
| SLC25A51 Knockout HCT 116 Cell Line | EDJ-KQ74743 | Human | 92014 | Details Get a Quote |
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