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P12235

- ADT1_HUMAN

UniProt

P12235 - ADT1_HUMAN

Protein

ADP/ATP translocase 1

Gene

SLC25A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 176 (01 Oct 2014)
      Sequence version 4 (23 Jan 2007)
      Previous versions | rss
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    Functioni

    Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei80 – 801NucleotideBy similarity

    GO - Molecular functioni

    1. adenine transmembrane transporter activity Source: ProtInc
    2. protein binding Source: IntAct

    GO - Biological processi

    1. adenine transport Source: GOC
    2. apoptotic mitochondrial changes Source: Ensembl
    3. energy reserve metabolic process Source: Reactome
    4. generation of precursor metabolites and energy Source: ProtInc
    5. mitochondrial genome maintenance Source: ProtInc
    6. negative regulation of necroptotic process Source: BHF-UCL
    7. regulation of insulin secretion Source: Reactome
    8. small molecule metabolic process Source: Reactome
    9. transport Source: ProtInc
    10. viral process Source: Reactome

    Keywords - Biological processi

    Host-virus interaction, Transport

    Enzyme and pathway databases

    ReactomeiREACT_118595. Mitochondrial protein import.
    REACT_18325. Regulation of insulin secretion.
    REACT_8016. Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization.

    Protein family/group databases

    TCDBi2.A.29.1.2. the mitochondrial carrier (mc) family.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    ADP/ATP translocase 1
    Alternative name(s):
    ADP,ATP carrier protein 1
    ADP,ATP carrier protein, heart/skeletal muscle isoform T1
    Adenine nucleotide translocator 1
    Short name:
    ANT 1
    Solute carrier family 25 member 4
    Gene namesi
    Name:SLC25A4
    Synonyms:ANT1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:10990. SLC25A4.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. mitochondrial inner membrane Source: Reactome
    3. mitochondrion Source: UniProt
    4. nucleus Source: UniProt

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.5 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901A → D in PEOA2. 1 Publication
    VAR_038814
    Natural varianti98 – 981L → P in PEOA2. 2 Publications
    VAR_022459
    Natural varianti104 – 1041D → G in PEOA2. 1 Publication
    Corresponds to variant rs28999114 [ dbSNP | Ensembl ].
    VAR_022460
    Natural varianti114 – 1141A → P in PEOA2. 2 Publications
    VAR_012111
    Natural varianti289 – 2891V → M in PEOA2; also found in a sporadic case affected by PEO. 2 Publications
    VAR_012112
    Mitochondrial DNA depletion syndrome 12, cardiomyopathic type (MTDPS12) [MIM:615418]: An autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged red fibers, mtDNA depletion, and accumulation of abnormal mitochondria.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation, Progressive external ophthalmoplegia

    Organism-specific databases

    MIMi609283. phenotype.
    615418. phenotype.
    Orphaneti254892. Autosomal dominant progressive external ophthalmoplegia.
    1369. Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBiPA35866.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 298297ADP/ATP translocase 1PRO_0000090574Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylglycine1 Publication
    Cross-linki10 – 10Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Modified residuei147 – 1471N6-succinyllysineBy similarity
    Modified residuei160 – 1601S-nitrosocysteineBy similarity
    Modified residuei245 – 2451N6-succinyllysineBy similarity
    Modified residuei272 – 2721N6-succinyllysineBy similarity

    Keywords - PTMi

    Acetylation, Isopeptide bond, S-nitrosylation, Ubl conjugation

    Proteomic databases

    MaxQBiP12235.
    PaxDbiP12235.
    PRIDEiP12235.

    PTM databases

    PhosphoSiteiP12235.

    Expressioni

    Gene expression databases

    BgeeiP12235.
    CleanExiHS_SLC25A4.
    GenevestigatoriP12235.

    Interactioni

    Subunit structurei

    Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with ARL2BP By similarity. Homodimer. Interacts with HIV-1 Vpr.By similarity1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    LRRK2Q5S0072EBI-359074,EBI-5323863

    Protein-protein interaction databases

    BioGridi106788. 25 interactions.
    DIPiDIP-33116N.
    IntActiP12235. 13 interactions.
    MINTiMINT-196037.
    STRINGi9606.ENSP00000281456.

    Structurei

    3D structure databases

    ProteinModelPortaliP12235.
    SMRiP12235. Positions 3-294.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei5 – 3935Helical; Name=1By similarityAdd
    BLAST
    Transmembranei75 – 10026Helical; Name=2By similarityAdd
    BLAST
    Transmembranei109 – 14335Helical; Name=3By similarityAdd
    BLAST
    Transmembranei176 – 20227Helical; Name=4By similarityAdd
    BLAST
    Transmembranei207 – 24135Helical; Name=5By similarityAdd
    BLAST
    Transmembranei273 – 29826Helical; Name=6By similarityAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati6 – 9893Solcar 1Add
    BLAST
    Repeati111 – 20191Solcar 2Add
    BLAST
    Repeati212 – 29786Solcar 3Add
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi235 – 2406Substrate recognitionBy similarity

    Sequence similaritiesi

    Contains 3 Solcar repeats.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG238123.
    HOGENOMiHOG000165727.
    HOVERGENiHBG108348.
    InParanoidiP12235.
    KOiK05863.
    OMAiDCIVKIF.
    OrthoDBiEOG7T1RBR.
    PhylomeDBiP12235.
    TreeFamiTF300743.

    Family and domain databases

    Gene3Di1.50.40.10. 1 hit.
    InterProiIPR002113. Aden_trnslctor.
    IPR002067. Mit_carrier.
    IPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view]
    PfamiPF00153. Mito_carr. 3 hits.
    [Graphical view]
    PRINTSiPR00927. ADPTRNSLCASE.
    PR00926. MITOCARRIER.
    SUPFAMiSSF103506. SSF103506. 1 hit.
    PROSITEiPS50920. SOLCAR. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P12235-1 [UniParc]FASTAAdd to Basket

    « Hide

    MGDHAWSFLK DFLAGGVAAA VSKTAVAPIE RVKLLLQVQH ASKQISAEKQ    50
    YKGIIDCVVR IPKEQGFLSF WRGNLANVIR YFPTQALNFA FKDKYKQLFL 100
    GGVDRHKQFW RYFAGNLASG GAAGATSLCF VYPLDFARTR LAADVGKGAA 150
    QREFHGLGDC IIKIFKSDGL RGLYQGFNVS VQGIIIYRAA YFGVYDTAKG 200
    MLPDPKNVHI FVSWMIAQSV TAVAGLVSYP FDTVRRRMMM QSGRKGADIM 250
    YTGTVDCWRK IAKDEGAKAF FKGAWSNVLR GMGGAFVLVL YDEIKKYV 298
    Length:298
    Mass (Da):33,064
    Last modified:January 23, 2007 - v4
    Checksum:i59F0DFAEC4E7CFBB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti16 – 161G → A in AAA61223. (PubMed:2823266)Curated
    Sequence conflicti147 – 1493KGA → RR in AAA61223. (PubMed:2823266)Curated
    Sequence conflicti227 – 2271V → L in AAA61223. (PubMed:2823266)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti90 – 901A → D in PEOA2. 1 Publication
    VAR_038814
    Natural varianti98 – 981L → P in PEOA2. 2 Publications
    VAR_022459
    Natural varianti104 – 1041D → G in PEOA2. 1 Publication
    Corresponds to variant rs28999114 [ dbSNP | Ensembl ].
    VAR_022460
    Natural varianti114 – 1141A → P in PEOA2. 2 Publications
    VAR_012111
    Natural varianti123 – 1231A → D in hypertrophic cardiomyopathy; sporadic patient with mild myopathy, exercise intolerance and lactic acidosis but no ophthalmoplegia. 1 Publication
    VAR_038815
    Natural varianti289 – 2891V → M in PEOA2; also found in a sporadic case affected by PEO. 2 Publications
    VAR_012112

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J02966 mRNA. Translation: AAA61223.1.
    J04982 Genomic DNA. Translation: AAA51736.1.
    HQ206346 Genomic DNA. Translation: ADP92294.1.
    HQ206347 Genomic DNA. Translation: ADP92295.1.
    HQ206348 Genomic DNA. Translation: ADP92296.1.
    HQ206349 Genomic DNA. Translation: ADP92297.1.
    HQ206350 Genomic DNA. Translation: ADP92298.1.
    HQ206351 Genomic DNA. Translation: ADP92299.1.
    HQ206352 Genomic DNA. Translation: ADP92300.1.
    HQ206353 Genomic DNA. Translation: ADP92301.1.
    HQ206354 Genomic DNA. Translation: ADP92302.1.
    HQ206355 Genomic DNA. Translation: ADP92303.1.
    HQ206356 Genomic DNA. Translation: ADP92304.1.
    HQ206357 Genomic DNA. Translation: ADP92305.1.
    HQ206358 Genomic DNA. Translation: ADP92306.1.
    HQ206359 Genomic DNA. Translation: ADP92307.1.
    HQ206360 Genomic DNA. Translation: ADP92308.1.
    HQ206361 Genomic DNA. Translation: ADP92309.1.
    HQ206362 Genomic DNA. Translation: ADP92310.1.
    HQ206363 Genomic DNA. Translation: ADP92311.1.
    HQ206364 Genomic DNA. Translation: ADP92312.1.
    HQ206365 Genomic DNA. Translation: ADP92313.1.
    HQ206366 Genomic DNA. Translation: ADP92314.1.
    HQ206367 Genomic DNA. Translation: ADP92315.1.
    HQ206368 Genomic DNA. Translation: ADP92316.1.
    HQ206369 Genomic DNA. Translation: ADP92317.1.
    HQ206370 Genomic DNA. Translation: ADP92318.1.
    HQ206371 Genomic DNA. Translation: ADP92319.1.
    HQ206372 Genomic DNA. Translation: ADP92320.1.
    HQ206373 Genomic DNA. Translation: ADP92321.1.
    HQ206374 Genomic DNA. Translation: ADP92322.1.
    HQ206375 Genomic DNA. Translation: ADP92323.1.
    HQ206376 Genomic DNA. Translation: ADP92324.1.
    HQ206377 Genomic DNA. Translation: ADP92325.1.
    HQ206378 Genomic DNA. Translation: ADP92326.1.
    HQ206379 Genomic DNA. Translation: ADP92327.1.
    HQ206380 Genomic DNA. Translation: ADP92328.1.
    HQ206381 Genomic DNA. Translation: ADP92329.1.
    HQ206382 Genomic DNA. Translation: ADP92330.1.
    HQ206383 Genomic DNA. Translation: ADP92331.1.
    HQ206384 Genomic DNA. Translation: ADP92332.1.
    HQ206385 Genomic DNA. Translation: ADP92333.1.
    CH471056 Genomic DNA. Translation: EAX04655.1.
    CH471056 Genomic DNA. Translation: EAX04656.1.
    BC008664 mRNA. Translation: AAH08664.1.
    BC061589 mRNA. Translation: AAH61589.1.
    BC063643 mRNA. Translation: AAH63643.1.
    J03593 mRNA. Translation: AAA36751.1.
    CCDSiCCDS34114.1.
    PIRiA44778.
    RefSeqiNP_001142.2. NM_001151.3.
    UniGeneiHs.246506.

    Genome annotation databases

    EnsembliENST00000281456; ENSP00000281456; ENSG00000151729.
    GeneIDi291.
    KEGGihsa:291.
    UCSCiuc003ixd.3. human.

    Polymorphism databases

    DMDMi113455.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    J02966 mRNA. Translation: AAA61223.1 .
    J04982 Genomic DNA. Translation: AAA51736.1 .
    HQ206346 Genomic DNA. Translation: ADP92294.1 .
    HQ206347 Genomic DNA. Translation: ADP92295.1 .
    HQ206348 Genomic DNA. Translation: ADP92296.1 .
    HQ206349 Genomic DNA. Translation: ADP92297.1 .
    HQ206350 Genomic DNA. Translation: ADP92298.1 .
    HQ206351 Genomic DNA. Translation: ADP92299.1 .
    HQ206352 Genomic DNA. Translation: ADP92300.1 .
    HQ206353 Genomic DNA. Translation: ADP92301.1 .
    HQ206354 Genomic DNA. Translation: ADP92302.1 .
    HQ206355 Genomic DNA. Translation: ADP92303.1 .
    HQ206356 Genomic DNA. Translation: ADP92304.1 .
    HQ206357 Genomic DNA. Translation: ADP92305.1 .
    HQ206358 Genomic DNA. Translation: ADP92306.1 .
    HQ206359 Genomic DNA. Translation: ADP92307.1 .
    HQ206360 Genomic DNA. Translation: ADP92308.1 .
    HQ206361 Genomic DNA. Translation: ADP92309.1 .
    HQ206362 Genomic DNA. Translation: ADP92310.1 .
    HQ206363 Genomic DNA. Translation: ADP92311.1 .
    HQ206364 Genomic DNA. Translation: ADP92312.1 .
    HQ206365 Genomic DNA. Translation: ADP92313.1 .
    HQ206366 Genomic DNA. Translation: ADP92314.1 .
    HQ206367 Genomic DNA. Translation: ADP92315.1 .
    HQ206368 Genomic DNA. Translation: ADP92316.1 .
    HQ206369 Genomic DNA. Translation: ADP92317.1 .
    HQ206370 Genomic DNA. Translation: ADP92318.1 .
    HQ206371 Genomic DNA. Translation: ADP92319.1 .
    HQ206372 Genomic DNA. Translation: ADP92320.1 .
    HQ206373 Genomic DNA. Translation: ADP92321.1 .
    HQ206374 Genomic DNA. Translation: ADP92322.1 .
    HQ206375 Genomic DNA. Translation: ADP92323.1 .
    HQ206376 Genomic DNA. Translation: ADP92324.1 .
    HQ206377 Genomic DNA. Translation: ADP92325.1 .
    HQ206378 Genomic DNA. Translation: ADP92326.1 .
    HQ206379 Genomic DNA. Translation: ADP92327.1 .
    HQ206380 Genomic DNA. Translation: ADP92328.1 .
    HQ206381 Genomic DNA. Translation: ADP92329.1 .
    HQ206382 Genomic DNA. Translation: ADP92330.1 .
    HQ206383 Genomic DNA. Translation: ADP92331.1 .
    HQ206384 Genomic DNA. Translation: ADP92332.1 .
    HQ206385 Genomic DNA. Translation: ADP92333.1 .
    CH471056 Genomic DNA. Translation: EAX04655.1 .
    CH471056 Genomic DNA. Translation: EAX04656.1 .
    BC008664 mRNA. Translation: AAH08664.1 .
    BC061589 mRNA. Translation: AAH61589.1 .
    BC063643 mRNA. Translation: AAH63643.1 .
    J03593 mRNA. Translation: AAA36751.1 .
    CCDSi CCDS34114.1.
    PIRi A44778.
    RefSeqi NP_001142.2. NM_001151.3.
    UniGenei Hs.246506.

    3D structure databases

    ProteinModelPortali P12235.
    SMRi P12235. Positions 3-294.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 106788. 25 interactions.
    DIPi DIP-33116N.
    IntActi P12235. 13 interactions.
    MINTi MINT-196037.
    STRINGi 9606.ENSP00000281456.

    Chemistry

    DrugBanki DB00171. Adenosine triphosphate.
    DB00720. Clodronate.
    GuidetoPHARMACOLOGYi 1062.

    Protein family/group databases

    TCDBi 2.A.29.1.2. the mitochondrial carrier (mc) family.

    PTM databases

    PhosphoSitei P12235.

    Polymorphism databases

    DMDMi 113455.

    Proteomic databases

    MaxQBi P12235.
    PaxDbi P12235.
    PRIDEi P12235.

    Protocols and materials databases

    DNASUi 291.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000281456 ; ENSP00000281456 ; ENSG00000151729 .
    GeneIDi 291.
    KEGGi hsa:291.
    UCSCi uc003ixd.3. human.

    Organism-specific databases

    CTDi 291.
    GeneCardsi GC04P186064.
    HGNCi HGNC:10990. SLC25A4.
    MIMi 103220. gene.
    609283. phenotype.
    615418. phenotype.
    neXtProti NX_P12235.
    Orphaneti 254892. Autosomal dominant progressive external ophthalmoplegia.
    1369. Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy.
    155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBi PA35866.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG238123.
    HOGENOMi HOG000165727.
    HOVERGENi HBG108348.
    InParanoidi P12235.
    KOi K05863.
    OMAi DCIVKIF.
    OrthoDBi EOG7T1RBR.
    PhylomeDBi P12235.
    TreeFami TF300743.

    Enzyme and pathway databases

    Reactomei REACT_118595. Mitochondrial protein import.
    REACT_18325. Regulation of insulin secretion.
    REACT_8016. Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization.

    Miscellaneous databases

    GeneWikii SLC25A4.
    GenomeRNAii 291.
    NextBioi 1187.
    PROi P12235.
    SOURCEi Search...

    Gene expression databases

    Bgeei P12235.
    CleanExi HS_SLC25A4.
    Genevestigatori P12235.

    Family and domain databases

    Gene3Di 1.50.40.10. 1 hit.
    InterProi IPR002113. Aden_trnslctor.
    IPR002067. Mit_carrier.
    IPR018108. Mitochondrial_sb/sol_carrier.
    IPR023395. Mt_carrier_dom.
    [Graphical view ]
    Pfami PF00153. Mito_carr. 3 hits.
    [Graphical view ]
    PRINTSi PR00927. ADPTRNSLCASE.
    PR00926. MITOCARRIER.
    SUPFAMi SSF103506. SSF103506. 1 hit.
    PROSITEi PS50920. SOLCAR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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., Li K., Wade R.P., Shuster R., Wallace D.C.
      Proc. Natl. Acad. Sci. U.S.A. 84:7580-7584(1987) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase."
      Cozens A.L., Runswick M.J., Walker J.E.
      J. Mol. Biol. 206:261-280(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. "A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed."
      Li K., Warner C.K., Hodge J.A., Minoshima S., Kudoh J., Fukuyama R., Maekawa M., Shimizu Y., Shimizu N., Wallace D.C.
      J. Biol. Chem. 264:13998-14004(1989) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    4. "Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing."
      Wang W., Shen P., Thiyagarajan S., Lin S., Palm C., Horvath R., Klopstock T., Cutler D., Pique L., Schrijver I., Davis R.W., Mindrinos M., Speed T.P., Scharfe C.
      Nucleic Acids Res. 39:44-58(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Eye, Mammary gland and PNS.
    7. "Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver."
      Houldsworth J., Attardi G.
      Proc. Natl. Acad. Sci. U.S.A. 85:377-381(1988) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-37.
      Tissue: Liver.
    8. Bienvenut W.V.
      Submitted (OCT-2004) to UniProtKB
      Cited for: PROTEIN SEQUENCE OF 2-31; 34-43; 64-92; 141-147; 189-199 AND 273-296, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT GLY-2, IDENTIFICATION BY MASS SPECTROMETRY.
      Tissue: B-cell lymphoma.
    9. "Mitochondrial membrane permeabilization by HIV-1 Vpr."
      Deniaud A., Brenner C., Kroemer G.
      Mitochondrion 4:223-233(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH HIV-1 VPR.
    10. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
      Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. Cited for: INVOLVEMENT IN MTDPS12.
    13. Cited for: VARIANTS PEOA2 PRO-114 AND MET-289.
    14. "A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family."
      Napoli L., Bordoni A., Zeviani M., Hadjigeorgiou G.M., Sciacco M., Tiranti V., Terentiou A., Moggio M., Papadimitriou A., Scarlato G., Comi G.P.
      Neurology 57:2295-2298(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PEOA2 PRO-98.
    15. "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., Fukazawa T., Houzen H., Yoshida K., Nonaka I., Goto Y.
      Ann. Neurol. 51:645-648(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PEOA2 GLY-104.
    16. "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)."
      Agostino A., Valletta L., Chinnery P.F., Ferrari G., Carrara F., Taylor R.W., Schaefer A.M., Turnbull D.M., Tiranti V., Zeviani M.
      Neurology 60:1354-1356(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PEO MET-289.
    17. "Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy."
      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.
      Hum. Mol. Genet. 14:3079-3088(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPERTROPHIC CARDIOMYOPATHY ASP-123.
    18. "A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia."
      Deschauer M., Hudson G., Mueller T., Taylor R.W., Chinnery P.F., Zierz S.
      Neuromuscul. Disord. 15:311-315(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PEOA2 ASP-90.
    19. Cited for: VARIANTS PEOA2 PRO-98 AND PRO-114.

    Entry informationi

    Entry nameiADT1_HUMAN
    AccessioniPrimary (citable) accession number: P12235
    Secondary accession number(s): D3DP59
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1989
    Last sequence update: January 23, 2007
    Last modified: October 1, 2014
    This is version 176 of the entry and version 4 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Miscellaneous

    The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue By similarity.By similarity

    Keywords - Technical termi

    Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3