SLC25A4
SLC25A4 Gene Summary
This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]
Details
| Type | Protein Coding |
| Official Symbol | SLC25A4 |
| Official Name | solute carrier family 25 member 4 [Source:HGNC Symbol;Acc:HGNC:10990] |
| Ensembl ID | ENSG00000151729 |
| Bio databases IDs | |
| Aliases | solute carrier family 25 member 4 |
| Synonyms | AAC1,Adc,ADT1,ANC1,ANT,ANT 1,mANC1,Mitochondrial adenine nucleotide translocator,MTDPS12,MTDPS12A,PEO2,PEO3,PEOA2,solute carrier family 25 member 4,solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4,T1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- hydrogen ion transporter
- Mitochondrial carrier protein
- enzyme binding
- protein binding
- ATP/ADP antiporter
- adenine transporter
- transporter
- oxidative phosphorylation uncoupler
Pathways
Biological processes and signaling networks where the SLC25A4 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- TRIM67
- RPA2
- PPIF
- WDR5
- CCNF
- SP1
- CTDSP2
- CLEC2D
- NXF1
- AP2M1
disease
- diabetes mellitus
- non-insulin-dependent diabetes mellitus
- lung adenocarcinoma
- prostate cancer
- lung squamous cell carcinoma
- lung adenocarcinoma formation
- autosomal recessive cardiomyopathic type mitochondrial DNA depletion syndrome 12b
- breast cancer
- autosomal dominant mitochondrial DNA depletion syndrome 12a cardiomyopathic type
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
regulated by
- cisplatin
- poly rI:rC-RNA
- BAG3
- NR4A3
- (6)-gingerol
- YY1
- CDK4
- (R,S)-norcoclaurine
- pirinixic acid
- doxorubicin
regulates
- BCL2L1
- NFkB (complex)
- BIRC3
- adenosine triphosphate
- H+
- ADP
- lactic acid
- CLPB
- FGF21
- alanine
role in cell
- growth
- cell death
- cell viability
- apoptosis
- migration
- proliferation
- regulation
- morphology
- permeability
- activation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- cristae-like membrane
- mitochondrial envelope
- cellular membrane
- inner membrane
- Plasma Membrane
- Mitochondria
- myofilaments
- mitochondrial membrane
- mitochondrial outer membrane
- mitochondrial inner membrane
- nuclear envelope
- membrane rafts
- paraspeckle-like structures
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the SLC25A4 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- generation of precursor metabolites and energy
- apoptotic mitochondrial changes
- ADP transport
- regulation of mitochondrial membrane permeability
- adenine transport
- negative regulation of necroptosis
- mitochondrial genome maintenance
CELLULAR COMPONENT
Where in the cell the gene product is active
- mitochondrial permeability transition pore complex
- mitochondrial membrane
- membrane
- mitochondrion
- mitochondrial inner membrane
- plasma membrane
MOLECULAR FUNCTION
What the gene product does at the molecular level
- protein binding
- hydrogen ion transmembrane transporter activity
- ATP:ADP antiporter activity
- oxidative phosphorylation uncoupler activity
- adenine transmembrane transporter activity