| |
|---|---|
| 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 | ADP, ATP |
Cross database links:
| RefSeq: | NP_001142.2 |
|---|---|
| Entrez Gene ID: | 291 |
| Pfam: | PF00153 |
| 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 | |
| Structure: | |
External Searches:
|
Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| 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