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2.A.29.1.2
Mitochondrial ADP/ATP carrier 1 (AAC1); ADP/ATP translocase 1; adenine nucleotide translocator 1 (ANT1); adPEO, Sengers syndrome (SLC25A4)

Accession Number:P12235
Protein Name:Mitochondrial ADP/ATP carrier 1 (AAC1) aka ADP/ATP translocase 1 aka adenine nucleotide translocator 1 (ANT1) aka adPEO, Sengers syndrome (SLC25A4)
Length:298
Molecular Weight:33064.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:6
Location1 / Topology2 / Orientation3: Mitochondrion inner membrane1 / Multi-pass membrane protein2
Substrate ATP, ADP

Cross database links:

Genevestigator: P12235 P12235 P12235
eggNOG: prNOG12573 NOG238123 NOG238123
HEGENOM: HBG610399 HOG000165727 HOG000165727
RefSeq: NP_001142.2   
Entrez Gene ID: 291   
Pfam: PF00153   
Drugbank: Drugbank Link   
OMIM: 103220  gene
609283  phenotype
KEGG: hsa:291    hsa:291    hsa:291   

Gene Ontology

GO:0005887 C:integral to plasma membrane
GO:0005743 C:mitochondrial inner membrane
GO:0015207 F:adenine transmembrane transporter activity
GO:0005515 F:protein binding
GO:0006091 P:generation of precursor metabolites and energy
GO:0044419 P:interspecies interaction between organisms
GO:0000002 P:mitochondrial genome maintenance
GO:0060547 P:negative regulation of necrotic cell death
GO:0055085 P:transmembrane transport
GO:0006112 P:energy reserve metabolic process
GO:0050796 P:regulation of insulin secretion
GO:0044281 P:small molecule metabolic process
GO:0016032 P:viral reproduction
GO:0005741 C:mitochondrial outer membrane
GO:0005471 F:ATP:ADP antiporter activity
GO:0015866 P:ADP transport
GO:0015867 P:ATP transport
GO:0051935 P:glutamate uptake involved in synaptic transmission

References (48)

[1] “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.”  Neckelmann N.et.al.   2823266
[2] “DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase.”  Cozens A.L.et.al.   2541251
[3] “A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed.”  Li K.et.al.   2547778
[4] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[5] “Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver.”  Houldsworth J.et.al.   2829183
[6] “Mitochondrial membrane permeabilization by HIV-1 Vpr.”  Deniaud A.et.al.   16120388
[7] “Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.”  Rikova K.et.al.   18083107
[8] “Lysine acetylation targets protein complexes and co-regulates major cellular functions.”  Choudhary C.et.al.   19608861
[9] “Role of adenine nucleotide translocator 1 in mtDNA maintenance.”  Kaukonen J.et.al.   10926541
[10] “A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.”  Napoli L.et.al.   11756613
[11] “A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.”  Komaki H.et.al.   12112115
[12] “Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).”  Agostino A.et.al.   12707443
[13] “Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.”  Palmieri L.et.al.   16155110
[14] “A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.”  Deschauer M.et.al.   15792871
[15] “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.”  Neckelmann N.et.al.   2823266
[16] “DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase.”  Cozens A.L.et.al.   2541251
[17] “A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed.”  Li K.et.al.   2547778
[18] “Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.”  Wang W.et.al.   20843780
[19] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[20] “Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver.”  Houldsworth J.et.al.   2829183
[21] “Mitochondrial membrane permeabilization by HIV-1 Vpr.”  Deniaud A.et.al.   16120388
[22] “Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.”  Rikova K.et.al.   18083107
[23] “Lysine acetylation targets protein complexes and co-regulates major cellular functions.”  Choudhary C.et.al.   19608861
[24] “Initial characterization of the human central proteome.”  Burkard T.R.et.al.   21269460
[25] “Role of adenine nucleotide translocator 1 in mtDNA maintenance.”  Kaukonen J.et.al.   10926541
[26] “A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.”  Napoli L.et.al.   11756613
[27] “A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.”  Komaki H.et.al.   12112115
[28] “Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).”  Agostino A.et.al.   12707443
[29] “Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.”  Palmieri L.et.al.   16155110
[30] “A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.”  Deschauer M.et.al.   15792871
[31] “Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.”  Virgilio R.et.al.   18575922
[32] “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.”  Neckelmann N.et.al.   2823266
[33] “DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase.”  Cozens A.L.et.al.   2541251
[34] “A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed.”  Li K.et.al.   2547778
[35] “Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.”  Wang W.et.al.   20843780
[36] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[37] “Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver.”  Houldsworth J.et.al.   2829183
[38] “Mitochondrial membrane permeabilization by HIV-1 Vpr.”  Deniaud A.et.al.   16120388
[39] “Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer.”  Rikova K.et.al.   18083107
[40] “Lysine acetylation targets protein complexes and co-regulates major cellular functions.”  Choudhary C.et.al.   19608861
[41] “Initial characterization of the human central proteome.”  Burkard T.R.et.al.   21269460
[42] “Role of adenine nucleotide translocator 1 in mtDNA maintenance.”  Kaukonen J.et.al.   10926541
[43] “A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.”  Napoli L.et.al.   11756613
[44] “A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.”  Komaki H.et.al.   12112115
[45] “Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).”  Agostino A.et.al.   12707443
[46] “Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.”  Palmieri L.et.al.   16155110
[47] “A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.”  Deschauer M.et.al.   15792871
[48] “Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.”  Virgilio R.et.al.   18575922
Structure:
1okc     

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FASTA formatted sequence
1:	MGDHAWSFLK DFLAGGVAAA VSKTAVAPIE RVKLLLQVQH ASKQISAEKQ YKGIIDCVVR 
61:	IPKEQGFLSF WRGNLANVIR YFPTQALNFA FKDKYKQLFL GGVDRHKQFW RYFAGNLASG 
121:	GAAGATSLCF VYPLDFARTR LAADVGKGAA QREFHGLGDC IIKIFKSDGL RGLYQGFNVS 
181:	VQGIIIYRAA YFGVYDTAKG MLPDPKNVHI FVSWMIAQSV TAVAGLVSYP FDTVRRRMMM 
241:	QSGRKGADIM YTGTVDCWRK IAKDEGAKAF FKGAWSNVLR GMGGAFVLVL YDEIKKYV