ADP/ATP translocase 1

Details

Name
ADP/ATP translocase 1
Synonyms
  • Adenine nucleotide translocator 1
  • ADP,ATP carrier protein 1
  • ADP,ATP carrier protein, heart/skeletal muscle isoform T1
  • ANT 1
  • ANT1
  • Solute carrier family 25 member 4
Gene Name
SLC25A4
Organism
Humans
Amino acid sequence
>lcl|BSEQ0010417|ADP/ATP translocase 1
MGDHAWSFLKDFLAGGVAAAVSKTAVAPIERVKLLLQVQHASKQISAEKQYKGIIDCVVR
IPKEQGFLSFWRGNLANVIRYFPTQALNFAFKDKYKQLFLGGVDRHKQFWRYFAGNLASG
GAAGATSLCFVYPLDFARTRLAADVGKGAAQREFHGLGDCIIKIFKSDGLRGLYQGFNVS
VQGIIIYRAAYFGVYDTAKGMLPDPKNVHIFVSWMIAQSVTAVAGLVSYPFDTVRRRMMM
QSGRKGADIMYTGTVDCWRKIAKDEGAKAFFKGAWSNVLRGMGGAFVLVLYDEIKKYV
Number of residues
298
Molecular Weight
33064.265
Theoretical pI
10.27
GO Classification
Functions
adenine transmembrane transporter activity
Processes
adenine transport / apoptotic mitochondrial changes / energy reserve metabolic process / generation of precursor metabolites and energy / mitochondrial genome maintenance / negative regulation of necroptotic process / regulation of insulin secretion / small molecule metabolic process / transport / viral process
Components
integral component of plasma membrane / mitochondrial inner membrane / mitochondrion / myelin sheath / nucleus
General Function
Adenine transmembrane transporter activity
Specific Function
Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.
Pfam Domain Function
Transmembrane Regions
5-39 75-100 109-143 176-202 207-241 273-298
Cellular Location
Mitochondrion inner membrane
Gene sequence
>lcl|BSEQ0010418|ADP/ATP translocase 1 (SLC25A4)
ATGGGTGATCACGCTTGGAGCTTCCTAAAGGACTTCCTGGCCGGGGGCGTCGCCGCTGCC
GTCTCCAAGACCGCGGTCGCCCCCATCGAGAGGGTCAAACTGCTGCTGCAGGTCCAGCAT
GCCAGCAAACAGATCAGTGCTGAGAAGCAGTACAAAGGGATCATTGATTGTGTGGTGAGA
ATCCCTAAGGAGCAGGGCTTCCTCTCCTTCTGGAGGGGTAACCTGGCCAACGTGATCCGT
TACTTCCCCACCCAAGCTCTCAACTTCGCCTTCAAGGACAAGTACAAGCAGCTCTTCTTA
GGGGGTGTGGATCGGCATAAGCAGTTCTGGCGCTACTTTGCTGGTAACCTGGCGTCCGGT
GGGGCCGCTGGGGCCACCTCCCTTTGCTTTGTCTACCCGCTGGACTTTGCTAGGACCAGG
TTGGCTGCTGATGTGGGCAAGGGCGCCGCCCAGCGTGAGTTCCATGGTCTGGGCGACTGT
ATCATCAAGATCTTCAAGTCTGATGGCCTGAGGGGGCTCTACCAGGGTTTCAACGTCTCT
GTCCAAGGCATCATTATCTATAGAGCTGCCTACTTCGGAGTCTATGATACTGCCAAGGGG
ATGCTGCCTGACCCCAAGAACGTGCACATTTTTGTGAGCTGGATGATTGCCCAGAGTGTG
ACGGCAGTCGCAGGGCTGGTGTCCTACCCCTTTGACACTGTTCGTCGTAGAATGATGATG
CAGTCCGGCCGGAAAGGGGCCGATATTATGTACACGGGGACAGTTGACTGCTGGAGGAAG
ATTGCAAAAGACGAAGGAGCCAAGGCCTTCTTCAAAGGTGCCTGGTCCAATGTGCTGAGA
GGCATGGGCGGTGCTTTTGTATTGGTGTTGTATGATGAGATCAAAAAATATGTCTAA
Chromosome Location
4
Locus
4q35
External Identifiers
ResourceLink
UniProtKB IDP12235
UniProtKB Entry NameADT1_HUMAN
GenBank Protein ID339920
GenBank Gene IDJ02966
GenAtlas IDSLC25A4
HGNC IDHGNC:10990
General References
  1. Neckelmann N, Li K, Wade RP, Shuster R, Wallace DC: 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. Proc Natl Acad Sci U S A. 1987 Nov;84(21):7580-4. [PubMed:2823266]
  2. Cozens AL, Runswick MJ, Walker JE: DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase. J Mol Biol. 1989 Mar 20;206(2):261-80. [PubMed:2541251]
  3. Li K, Warner CK, Hodge JA, Minoshima S, Kudoh J, Fukuyama R, Maekawa M, Shimizu Y, Shimizu N, Wallace DC: A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed. J Biol Chem. 1989 Aug 25;264(24):13998-4004. [PubMed:2547778]
  4. Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. Nucleic Acids Res. 2011 Jan;39(1):44-58. doi: 10.1093/nar/gkq750. Epub 2010 Sep 15. [PubMed:20843780]
  5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334]
  6. Houldsworth J, Attardi G: Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver. Proc Natl Acad Sci U S A. 1988 Jan;85(2):377-81. [PubMed:2829183]
  7. Deniaud A, Brenner C, Kroemer G: Mitochondrial membrane permeabilization by HIV-1 Vpr. Mitochondrion. 2004 Jul;4(2-3):223-33. [PubMed:16120388]
  8. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. doi: 10.1126/science.1175371. Epub 2009 Jul 16. [PubMed:19608861]
  9. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. [PubMed:21269460]
  10. Echaniz-Laguna A, Chassagne M, Ceresuela J, Rouvet I, Padet S, Acquaviva C, Nataf S, Vinzio S, Bozon D, Mousson de Camaret B: Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. J Med Genet. 2012 Feb;49(2):146-50. doi: 10.1136/jmedgenet-2011-100504. Epub 2011 Dec 20. [PubMed:22187496]
  11. Vaca Jacome AS, Rabilloud T, Schaeffer-Reiss C, Rompais M, Ayoub D, Lane L, Bairoch A, Van Dorsselaer A, Carapito C: N-terminome analysis of the human mitochondrial proteome. Proteomics. 2015 Jul;15(14):2519-24. doi: 10.1002/pmic.201400617. Epub 2015 Jun 8. [PubMed:25944712]
  12. Kaukonen J, Juselius JK, Tiranti V, Kyttala A, Zeviani M, Comi GP, Keranen S, Peltonen L, Suomalainen A: Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science. 2000 Aug 4;289(5480):782-5. [PubMed:10926541]
  13. Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G, Comi GP: A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology. 2001 Dec 26;57(12):2295-8. [PubMed:11756613]
  14. Komaki H, Fukazawa T, Houzen H, Yoshida K, Nonaka I, Goto Y: A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. Ann Neurol. 2002 May;51(5):645-8. [PubMed:12112115]
  15. Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, Schaefer AM, Turnbull DM, Tiranti V, Zeviani M: Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology. 2003 Apr 22;60(8):1354-6. [PubMed:12707443]
  16. Palmieri L, Alberio S, Pisano I, Lodi T, Meznaric-Petrusa M, Zidar J, Santoro A, Scarcia P, Fontanesi F, Lamantea E, Ferrero I, Zeviani M: Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet. 2005 Oct 15;14(20):3079-88. Epub 2005 Sep 9. [PubMed:16155110]
  17. Deschauer M, Hudson G, Muller T, Taylor RW, Chinnery PF, Zierz S: A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. Neuromuscul Disord. 2005 Apr;15(4):311-5. Epub 2005 Jan 28. [PubMed:15792871]
  18. Virgilio R, Ronchi D, Hadjigeorgiou GM, Bordoni A, Saladino F, Moggio M, Adobbati L, Kafetsouli D, Tsironi E, Previtali S, Papadimitriou A, Bresolin N, Comi GP: Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol. 2008 Sep;255(9):1384-91. doi: 10.1007/s00415-008-0926-3. Epub 2008 Jun 30. [PubMed:18575922]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00171ATPinvestigational, nutraceuticalunknownDetails
DB00720Clodronic acidapproved, investigational, vet_approvedyesinhibitorDetails
DB02426CarboxyatractylosideexperimentalunknownDetails
DB03429Tetrastearoyl cardiolipinexperimentalunknownDetails
DB04178Di-Stearoyl-3-Sn-PhosphatidylcholineexperimentalunknownDetails
DB01736[3-(Dodecanoylamino)Propyl](Hydroxy)DimethylammoniumexperimentalunknownDetails
DB01077Etidronic acidapprovedunknowninhibitorDetails