Recombinant Human ADP/ATP translocase 1 (SLC25A4)

1. Patients with SLC25A4 (ANT1) gene mutations present a common phenotype with exercise intolerance, hyperlactatemia, and hypertrophic cardiomyopathy. PMID: 28823815
2. NF-kappaB signalling may repress ANT1 gene transcription and impair mitochondrial functions. PMID: 28317877
3. Data indicate that by inhibiting adenine nucleotide translocase 1 (ANT1) and mitochondrial dysfunction, tyrosine phosphatase SHP2 orchestrates an intrinsic regulatory loop to limit excessive NLR family, pyrin domain-containing 3 protein (NLRP3) inflammasome activation. PMID: 29255148
4. ANT1 confers sensitivity of the mitochondrial permeability transition pore to the electrochemical gradient. PMID: 27221760
5. These findings suggest that DRAK1 translocates in response to stimuli and induces apoptosis through its interaction with specific binding partners, p53 and/or ANT2. PMID: 29397938
6. Yeast aac2 R96H and aac2 R252G mutations are equivalent to R80H and R235G human ANT1 pathological mutations. mtDNA instability induced by aac2R96H and aac2R252G is rescued by N-acetylcysteine. PMID: 28947214
7. identification by whole-exome sequencing of seven probands harboring dominant, de novo SLC25A4 mutations; all affected individuals presented at birth, were ventilator dependent and, where tested, revealed severe combined mitochondrial respiratory chain deficiencies associated with a marked loss of mitochondrial DNA copy number in skeletal muscle PMID: 27693233
8. A directed proteomic approach discovered the novel interaction of BKCa with Tom22, a component of the mitochondrion outer membrane import system, and the adenine nucleotide translocator (ANT). PMID: 27592226
9. Identification of ZNF555 as a putative transcriptional factor that impacts ANT1 promoter activity in facioscapulohumeral dystrophy myoblasts. PMID: 26184877
10. elevated ANT1 expression supports EV infection and is associated with EV persistence, a condition with adverse prognosis. PMID: 24485628
11. Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function. PMID: 24524965
12. Data suggest acetylation of ANT1 at lysines 10/23/92 has dramatic physiological effects on ADP-ATP exchange; extent of acetylation of lysine 23 decreases following physical activity; this change is highly dependent on insulin sensitivity/resistance. PMID: 24884163
13. Expression of ANT1 were lower in inclusion body myositis samples versus both polymyositis and controls PMID: 22350218
14. Compares and contrasts all the known human SLC25A* genes and includes functional information. PMID: 23266187
15. A 13-generation Mennonite pedigree with autosomal recessive myopathy and cardiomyopathy due to an SLC25A4 frameshift null mutation (c.523delC, p.Q175RfsX38), which codes for the heart-muscle isoform of the adenine nucleotide translocator-1, was studied. PMID: 23401503
16. This report expands the clinical spectrum of ANT1-related human diseases, and emphasises the crucial role of the mitochondrial ADP/ATP carriers in muscle function and pathophysiology of human myopathies. PMID: 22187496
17. mutant human ANT1 causes dominant mitochondrial defects characterized by decreased ADP-ATP exchange function and abnormal translocator reversal potential PMID: 21586654
18. There was no significant difference in slc25a4 mRNA expression between the AML patients with complete remission and those without remission. PMID: 19840444
19. The respiratory-dependent assembly of ANT1 differentially regulates Bax and Ca2+ mediated cytochrome c release. PMID: 21196320
20. Data show that MeCP2 cooperates with YY1 in repressing the ANT1 gene encoding a mitochondrial adenine nucleotide translocase. PMID: 20504995
21. The reduction of ANT1 density below a physiological baseline impairs fundamental functions of this protein in ADF cells, leading them to undertake a cell death process. PMID: 20528917
22. The heterologous expression of ANT1 on endothelial cell membrane enhances the tissue-type plasminogen activator binding ability of endothelial cells and enhances their fibrinolytic properties. PMID: 20160640
23. Tyrosine phosphorylation by Src within the cavity of the adenine nucleotide translocase 1 regulates ADP/ATP exchange in mitochondria. PMID: 20007455
24. PGC-1alpha regulates reactive oxygen species generation and apoptosis in endothelial cells by increasing fatty acid oxidation and enhancing ATP/ADP translocase activity. PMID: 19965780
25. A114P missense mutation in the human Ant1 protein was found to be associated with autosomal dominant progressive external ophthalmoplegia PMID: 12140186
26. ANC1 is able to restore growth on a nonfermentable carbon source of a yeast mutant strain, and its N-terminal region proves important for its biogenesis and transport activity in yeast mitochondria. PMID: 12450408
27. Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene. PMID: 12565915
28. Inhibition of the PT-pore (ANT-1) via up-regulation of cyclophilin D plays a role in tumorigenesis. PMID: 14729611
29. adenine nucleotide translocase 1-induced apoptosis requires nuclear factor B recruitment into mitochondria PMID: 15231833
30. Increased ANT1 expression and mitochondrial dysfunction may thus be initial events in facioscapulohumeral muscular dystrophy pathogenesis PMID: 15551024
31. report a novel heterozygous C to A transversion at nucleotide 269 in the ANT1 gene in a German family with Progressive External Ophthalmoplegia , predicted to convert a highly conserved alanine at codon 90 to aspartic acid. PMID: 15792871
32. After the training period, intracellular energetic units had a higher control of mitochondrial respiration by creatine linked to a more efficient functional coupling adenine nucleotide translocase-mitochondrial creatine kinase. PMID: 16020522
33. The altered isoform expression in DCM hearts entails changes in the kinetic properties of total ANT protein restricting ANT function and contributing to disturbed energy metabolism in DCM. PMID: 16107323
34. Dominant missense mutations were found in the gene encoding the heart and skeletal muscle-specific isoform of the adenine nucleotide translocator (ANT1) in families with autosomal dominant progressive external opthalmoplegia and in a sporadic patient PMID: 16155110
35. Results revealed that ANT1 and ANT3 (adenine nucleotide translocase 1-3) over-expressing HeLa cells increased their atRA sensitivity. PMID: 16556444
36. these data provide evidence for the involvement of ANT-1 and ANT-3 in the induction of the mitochondrial permeability transition pore and indicate the relevance of this phenomenon in ER-mitochondria Ca2+ transfer. PMID: 16887100
37. ANT1 and PolgammaA, which cause additive, deleterious effects on mtDNA maintenance and integrity,complex encephalomyopathy. PMID: 18504126
38. Data show that ANT1 has a role in determining familial progressive external ophthalmoplegia. PMID: 18575922
39. differently from normal myoblasts, the 4qA/B marker interacted directly with the promoters of the FRG1 and ANT1 genes in Facio-Scapulo-Humeral Dystrophy cells PMID: 18852887
40. the presence of the functionally inert catalytic domain alone was sufficient to cause the MT1-MMP to interact with ANT2, thus indicating that there is a non-proteolytic mode of these interactions PMID: 19232058
41. Association of the T(-365)C POLG1, G(-25)A ANT1 and G(-605)T PEO1 gene polymorphisms with diabetic polyneuropathy in patients with type 1 diabetes mellitus PMID: 19425506

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HGNC: 10990

OMIM: 103220

KEGG: hsa:291

STRING: 9606.ENSP00000281456

UniGene: Hs.246506