Property Summary

NCBI Gene PubMed Count 71
PubMed Score 110.81
PubTator Score 112.28

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (19)

Disease log2 FC p
malignant mesothelioma -1.500 5.4e-07
astrocytic glioma -2.100 5.0e-03
ependymoma -2.600 1.8e-13
oligodendroglioma -1.900 2.1e-02
psoriasis -1.300 5.0e-04
glioblastoma -3.600 5.2e-07
medulloblastoma -2.800 1.3e-07
atypical teratoid / rhabdoid tumor -4.000 1.8e-15
medulloblastoma, large-cell -4.000 6.7e-09
primitive neuroectodermal tumor -2.700 1.6e-05
acute quadriplegic myopathy -1.144 1.4e-05
colon cancer -1.600 1.7e-04
lung cancer -2.000 2.7e-05
pediatric high grade glioma -3.100 3.3e-08
pilocytic astrocytoma -2.400 1.7e-07
subependymal giant cell astrocytoma -2.393 1.3e-03
lung adenocarcinoma -1.300 1.3e-07
lung carcinoma 1.200 5.3e-17
gastric carcinoma -1.600 2.4e-02

Gene RIF (67)

PMID Text
26184877 Identification of ZNF555 as a putative transcriptional factor that impacts ANT1 promoter activity in facioscapulohumeral dystrophy myoblasts.
24886575 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
24884163 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.
24524965 Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function.
24485628 elevated ANT1 expression supports EV infection and is associated with EV persistence, a condition with adverse prognosis.
23401503 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.
23266187 Compares and contrasts all the known human SLC25A* genes and includes functional information.
22350218 Expression of ANT1 were lower in inclusion body myositis samples versus both polymyositis and controls
22187496 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.
21918813 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
21586654 mutant human ANT1 causes dominant mitochondrial defects characterized by decreased ADP-ATP exchange function and abnormal translocator reversal potential
21318276 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
21196320 The respiratory-dependent assembly of ANT1 differentially regulates Bax and Ca2+ mediated cytochrome c release.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20698827 The catalytic properties, gene expression and protein levels of certain proteins involved in mitochondrial ATP synthesis, such as F1F0-ATPase, ANT and AK, in human skin fibroblasts with trisomic karyotype, compared them with euploid fibroblasts.
20528917 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.
20504995 Data show that MeCP2 cooperates with YY1 in repressing the ANT1 gene encoding a mitochondrial adenine nucleotide translocase.
20181062 Observational study of gene-disease association. (HuGE Navigator)
20160640 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.
20012529 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
20007455 Tyrosine phosphorylation by Src within the cavity of the adenine nucleotide translocase 1 regulates ADP/ATP exchange in mitochondria.
19965780 PGC-1alpha regulates reactive oxygen species generation and apoptosis in endothelial cells by increasing fatty acid oxidation and enhancing ATP/ADP translocase activity.
19840444 There was no significant difference in slc25a4 mRNA expression between the AML patients with complete remission and those without remission.
19425506 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
19275588 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
19275583 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
19275580 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
19232058 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
19149577 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
18852887 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
18575922 Data show that ANT1 has a role in determining familial progressive external ophthalmoplegia.
18575922 Observational study of gene-disease association. (HuGE Navigator)
18504126 ANT1 and PolgammaA, which cause additive, deleterious effects on mtDNA maintenance and integrity,complex encephalomyopathy.
18094160 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
17586317 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
17586316 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
17420318 Observational study of gene-disease association. (HuGE Navigator)
17331040 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
17328670 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
16887100 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.
16556444 Results revealed that ANT1 and ANT3 (adenine nucleotide translocase 1-3) over-expressing HeLa cells increased their atRA sensitivity.
16511342 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
16492162 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
16429131 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
16354571 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
16155110 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
16120388 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
16107323 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.
16020522 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.
15832179 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
15817944 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
15792871 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.
15725353 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
15638722 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
15551024 Increased ANT1 expression and mitochondrial dysfunction may thus be initial events in facioscapulohumeral muscular dystrophy pathogenesis
15231833 adenine nucleotide translocase 1-induced apoptosis requires nuclear factor B recruitment into mitochondria
15142377 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
14729611 Inhibition of the PT-pore (ANT-1) via up-regulation of cyclophilin D plays a role in tumorigenesis.
12750404 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
12750393 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
12565915 Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.
12450408 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.
12140186 A114P missense mutation in the human Ant1 protein was found to be associated with autosomal dominant progressive external ophthalmoplegia
11193032 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
11181702 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
11175251 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells
10620603 HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells

AA Sequence

MGDHAWSFLKDFLAGGVAAAVSKTAVAPIERVKLLLQVQHASKQISAEKQYKGIIDCVVRIPKEQGFLSF      1 - 70
WRGNLANVIRYFPTQALNFAFKDKYKQLFLGGVDRHKQFWRYFAGNLASGGAAGATSLCFVYPLDFARTR     71 - 140
LAADVGKGAAQREFHGLGDCIIKIFKSDGLRGLYQGFNVSVQGIIIYRAAYFGVYDTAKGMLPDPKNVHI    141 - 210
FVSWMIAQSVTAVAGLVSYPFDTVRRRMMMQSGRKGADIMYTGTVDCWRKIAKDEGAKAFFKGAWSNVLR    211 - 280
GMGGAFVLVLYDEIKKYV                                                        281 - 298
//

Text Mined References (74)

PMID Year Title
26184877 2015 ZNF555 protein binds to transcriptional activator site of 4qA allele and ANT1: potential implication in Facioscapulohumeral dystrophy.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24884163 2014 Adenine nucleotide translocase is acetylated in vivo in human muscle: Modeling predicts a decreased ADP affinity and altered control of oxidative phosphorylation.
24725412 2014 Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease.
24524965 2014 Mitochondrial DNA content contributes to healthy aging in Chinese: a study from nonagenarians and centenarians.
24485628 2014 Adenine nucleotide translocase 1 expression affects enterovirus infection in human and murine hearts.
23401503 2013 Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
23266187 The mitochondrial transporter family SLC25: identification, properties and physiopathology.
22350218 2013 ANT1 is reduced in sporadic inclusion body myositis.
22187496 2012 Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.
21630459 2011 Proteomic characterization of the human sperm nucleus.
21586654 2011 adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.
21370995 2011 Expression of leucine-rich repeat kinase 2 (LRRK2) inhibits the processing of uMtCK to induce cell death in a cell culture model system.
21269460 2011 Initial characterization of the human central proteome.
21196320 2011 The respiratory-dependent assembly of ANT1 differentially regulates Bax and Ca2+ mediated cytochrome c release.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20833797 2011 Phosphoproteome analysis of functional mitochondria isolated from resting human muscle reveals extensive phosphorylation of inner membrane protein complexes and enzymes.
20698827 2010 Impairment of F1F0-ATPase, adenine nucleotide translocator and adenylate kinase causes mitochondrial energy deficit in human skin fibroblasts with chromosome 21 trisomy.
20528917 2010 The silencing of adenine nucleotide translocase isoform 1 induces oxidative stress and programmed cell death in ADF human glioblastoma cells.
20504995 2010 The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.
20181062 2010 Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration.
20160640 2010 Enhancement of fibrinolytic activity in vascular endothelial cells by heterologous expression of adenine nucleotide translocase-1.
20007455 2010 Tyrosine phosphorylation by Src within the cavity of the adenine nucleotide translocase 1 regulates ADP/ATP exchange in mitochondria.
19965780 2010 Peroxisome proliferator-activated receptor-gamma coactivator 1-alpha overexpression prevents endothelial apoptosis by increasing ATP/ADP translocase activity.
19840444 2009 [Expression of genes psma6 and slc25a4 in patients with acute monocytic leukemia].
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19425506 [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].
19232058 2009 Biochemical evidence of the interactions of membrane type-1 matrix metalloproteinase (MT1-MMP) with adenine nucleotide translocator (ANT): potential implications linking proteolysis with energy metabolism in cancer cells.
18852887 2008 A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy.
18575922 2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
18504126 2008 Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.
17420318 2007 Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
16887100 2006 Overexpression of adenine nucleotide translocase reduces Ca2+ signal transmission between the ER and mitochondria.
16556444 2006 Apoptotic and anti-proliferative effects of all-trans retinoic acid. Adenine nucleotide translocase sensitizes HeLa cells to all-trans retinoic acid.
16507998 2006 Inhibition of ADP/ATP exchange in receptor-interacting protein-mediated necrosis.
16155110 2005 Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
16120388 2004 Mitochondrial membrane permeabilization by HIV-1 Vpr.
16107323 2006 An isoform shift in the cardiac adenine nucleotide translocase expression alters the kinetic properties of the carrier in dilated cardiomyopathy.
16020522 2005 Functional coupling of adenine nucleotide translocase and mitochondrial creatine kinase is enhanced after exercise training in lung transplant skeletal muscle.
15792871 2005 A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.
15551024 2005 Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15231833 2004 Recruitment of NF-kappaB into mitochondria is involved in adenine nucleotide translocase 1 (ANT1)-induced apoptosis.
14729611 2004 Cyclophilin D, a component of the permeability transition-pore, is an apoptosis repressor.
12750404 2003 Vpr R77Q is associated with long-term nonprogressive HIV infection and impaired induction of apoptosis.
12750393 2003 The mitochondriotoxic domain of Vpr determines HIV-1 virulence.
12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
12565915 2003 Autosomal dominant external ophthalmoplegia and bipolar affective disorder associated with a mutation in the ANT1 gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12450408 2002 The human mitochondrial ADP/ATP carriers: kinetic properties and biogenesis of wild-type and mutant proteins in the yeast S. cerevisiae.
12140186 2002 Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia.
12112115 2002 A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.
12039962 2002 Activation function-1 domain of androgen receptor contributes to the interaction between subnuclear splicing factor compartment and nuclear receptor compartment. Identification of the p102 U5 small nuclear ribonucleoprotein particle-binding protein as a coactivator for the receptor.
11809823 2002 ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter.
11756613 2001 A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.
11756592 2001 ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia.
11193032 2000 Mitochondrial control of cell death induced by HIV-1-encoded proteins.
11181702 2001 Control of mitochondrial membrane permeabilization by adenine nucleotide translocator interacting with HIV-1 viral protein rR and Bcl-2.
11175251 2000 Permeabilization of the mitochondrial inner membrane during apoptosis: impact of the adenine nucleotide translocator.
10926541 2000 Role of adenine nucleotide translocator 1 in mtDNA maintenance.
10620603 2000 The HIV-1 viral protein R induces apoptosis via a direct effect on the mitochondrial permeability transition pore.
10364542 1999 A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia.
9748162 1998 Bax and adenine nucleotide translocator cooperate in the mitochondrial control of apoptosis.
9110174 1997 Large-scale concatenation cDNA sequencing.
8644740 1996 An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
8479824 1993 Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect.
8103757 1993 The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus.
2829183 1988 Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver.
2823266 1987 cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes.
2547778 1989 A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed.
2541251 1989 DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase.
1582253 1992 Assignment of the human muscle adenine nucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridization.