Human Gene SLC25A4 (ENST00000281456.11) from GENCODE V44
Description: Homo sapiens solute carrier family 25 member 4 (SLC25A4), mRNA. (from RefSeq NM_001151) RefSeq Summary (NM_001151): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Gencode Transcript: ENST00000281456.11 Gencode Gene: ENSG00000151729.11 Transcript (Including UTRs) Position: hg38 chr4:185,143,266-185,150,382 Size: 7,117 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr4:185,143,373-185,146,971 Size: 3,599 Coding Exon Count: 4
ID:ADT1_HUMAN DESCRIPTION: RecName: Full=ADP/ATP translocase 1; AltName: Full=ADP,ATP carrier protein 1; AltName: Full=ADP,ATP carrier protein, heart/skeletal muscle isoform T1; AltName: Full=Adenine nucleotide translocator 1; Short=ANT 1; AltName: Full=Solute carrier family 25 member 4; FUNCTION: Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane. SUBUNIT: Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with ARL2BP (By similarity). Homodimer. Interacts with HIV-1 Vpr. SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein. DISEASE: Defects in SLC25A4 are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]. Progressive external ophthalmoplegia is characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged- red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. MISCELLANEOUS: The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity). SIMILARITY: Belongs to the mitochondrial carrier family. SIMILARITY: Contains 3 Solcar repeats. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A4";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00153 - Mitochondrial carrier protein
ModBase Predicted Comparative 3D Structure on P12235
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000002 mitochondrial genome maintenance GO:0006091 generation of precursor metabolites and energy GO:0008637 apoptotic mitochondrial changes GO:0015853 adenine transport GO:0015866 ADP transport GO:0015867 ATP transport GO:0016032 viral process GO:0046902 regulation of mitochondrial membrane permeability GO:0050796 regulation of insulin secretion GO:0055085 transmembrane transport GO:0060546 negative regulation of necroptotic process
BioCarta from NCI Cancer Genome Anatomy Project h_etcPathway - Electron Transport Reaction in Mitochondria
Reactome (by CSHL, EBI, and GO)
Protein P12235 (Reactome details) participates in the following event(s):
R-HSA-5250209 ARL2:GTP:ARL2BP binds SLC25A4 R-HSA-180905 Association of Vpr with ANT1 R-HSA-1307803 TIMM22 inserts proteins into inner membrane R-HSA-1268022 TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space R-HSA-1299481 TIMM9:TIMM10 binds hydrophobic proteins R-HSA-5672027 ARL2:GTP:ARL2BP:SLC25A4 dimer exchanges ATP for ADP across the mitochondrial inner membrane R-HSA-1955380 TIMM9:TIMM10 transfers proteins to TIMM22 R-HSA-422356 Regulation of insulin secretion R-HSA-180897 Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization R-HSA-1268020 Mitochondrial protein import R-HSA-163685 Energy Metabolism R-HSA-176033 Interactions of Vpr with host cellular proteins R-HSA-392499 Metabolism of proteins R-HSA-1430728 Metabolism R-HSA-162909 Host Interactions of HIV factors R-HSA-162906 HIV Infection R-HSA-5663205 Infectious disease R-HSA-1643685 Disease