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P12235

- ADT1_HUMAN

UniProt

P12235 - ADT1_HUMAN

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Protein

ADP/ATP translocase 1

Gene

SLC25A4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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

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
Complete GO annotation...

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
Complete GO annotation...

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.
ExpressionAtlasiP12235. baseline and differential.
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. 26 interactions.
DIPiDIP-33116N.
IntActiP12235. 14 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.
GeneTreeiENSGT00390000011543.
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

        10         20         30         40         50
MGDHAWSFLK DFLAGGVAAA VSKTAVAPIE RVKLLLQVQH ASKQISAEKQ
60 70 80 90 100
YKGIIDCVVR IPKEQGFLSF WRGNLANVIR YFPTQALNFA FKDKYKQLFL
110 120 130 140 150
GGVDRHKQFW RYFAGNLASG GAAGATSLCF VYPLDFARTR LAADVGKGAA
160 170 180 190 200
QREFHGLGDC IIKIFKSDGL RGLYQGFNVS VQGIIIYRAA YFGVYDTAKG
210 220 230 240 250
MLPDPKNVHI FVSWMIAQSV TAVAGLVSYP FDTVRRRMMM QSGRKGADIM
260 270 280 290
YTGTVDCWRK IAKDEGAKAF FKGAWSNVLR GMGGAFVLVL YDEIKKYV
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. 26 interactions.
DIPi DIP-33116N.
IntActi P12235. 14 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.
GeneTreei ENSGT00390000011543.
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.
ExpressionAtlasi P12235. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 177 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