SLC25A31
Solute Carrier Family 25 Member 31 (Adenine Nucleotide Translocator 4)
Gene Information Card
| Symbol | SLC25A31 |
|---|---|
| Full Name | solute carrier family 25 member 31 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q28.1 |
| NCBI Gene ID | 83447 ncbi.nlm.nih.gov/gene/83447 |
| Ensembl ID | ENSG00000151475 |
| UniProt ID | Q9H0C2 |
| OMIM ID | 610318 |
| HGNC ID | 20243 |
| Aliases | ANT4, SFEC35, AAC4 |
Description
SLC25A31 (solute carrier family 25 member 31) encodes adenine nucleotide translocator 4 (ANT4), a mitochondrial ADP/ATP carrier protein. ANT4 is specifically expressed in testis and is essential for spermatogenesis. It exchanges ADP and ATP across the mitochondrial inner membrane, coupling mitochondrial ATP production to cellular energy demands. Mutations in SLC25A31 are associated with male infertility due to impaired sperm motility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss-of-function mutations in SLC25A31 disrupt ADP/ATP exchange in testicular mitochondria, leading to defective spermatogenesis and reduced sperm motility. | ClinVar, OMIM |
| Spermatogenic failure 35 | Homozygous or compound heterozygous mutations in SLC25A31 cause autosomal recessive spermatogenic failure characterized by asthenozoospermia. | OMIM #618152 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.3 | Low |
| Prostate | 0.2 | Low |
| Ovary | 0.1 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
| HEK293 | 0.0 | Not expressed |
| Testicular germ cell lines | High | Consistent with tissue expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.238C>T (p.Arg80*) | Nonsense | Rare | Loss of function; truncated protein |
| c.347G>A (p.Arg116Gln) | Missense | Rare | Impaired ADP/ATP transport |
| c.494T>C (p.Leu165Pro) | Missense | Rare | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that abolish or severely impair ADP/ATP exchange activity, leading to spermatogenic failure.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ATP:ADP antiporter activity (GO:0005471) | • ATP transport (GO:0015867) |
| • ADP transport (GO:0015868) | • mitochondrial inner membrane (GO:0005743) |
| • spermatogenesis (GO:0007283) |
Pathways
• Mitochondrial ADP/ATP transport (Reactome: R-HSA-72766)
• Spermatogenesis (KEGG: hsa04714)
Protein Summary
ANT4 (UniProt Q9H0C2) is a 298-amino acid mitochondrial inner membrane protein with six transmembrane helices. It functions as a homodimer to catalyze the exchange of ADP and ATP across the mitochondrial membrane. Expression is restricted to testis, where it is critical for energy supply during spermatogenesis. Structural studies indicate a conserved nucleotide-binding site and substrate-induced conformational changes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC25A31 Knockout HEK293 Cell Line | EDJ-KQ1629 | Human | 83447 | Details Get a Quote |
| SLC25A31 Knockout HeLa Cell Line | EDJ-KQ57438 | Human | 83447 | Details Get a Quote |
| SLC25A31 Knockout A-549 Cell Line | EDJ-KQ65942 | Human | 83447 | Details Get a Quote |
| SLC25A31 Knockout HCT 116 Cell Line | EDJ-KQ74367 | Human | 83447 | Details Get a Quote |
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