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Protein

ADP/ATP translocase 1

Gene

SLC25A4

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

Functioni

Involved in mitochondrial ADP/ATP transport. Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.1 Publication

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei80NucleotideBy similarity1

GO - Molecular functioni

  • adenine transmembrane transporter activity Source: ProtInc
  • ATP:ADP antiporter activity Source: GO_Central

GO - Biological processi

  • ADP transport Source: UniProtKB
  • apoptotic mitochondrial changes Source: Ensembl
  • generation of precursor metabolites and energy Source: ProtInc
  • mitochondrial genome maintenance Source: ProtInc
  • negative regulation of necroptotic process Source: BHF-UCL
  • regulation of insulin secretion Source: Reactome
  • regulation of mitochondrial membrane permeability Source: GO_Central
  • transport Source: ProtInc
  • viral process Source: UniProtKB-KW

Keywordsi

Biological processHost-virus interaction, Transport

Enzyme and pathway databases

ReactomeiR-HSA-1268020. Mitochondrial protein import.
R-HSA-180897. Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization.
R-HSA-422356. Regulation of insulin secretion.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:10990. SLC25A4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei5 – 39Helical; Name=1By similarityAdd BLAST35
Transmembranei75 – 100Helical; Name=2By similarityAdd BLAST26
Transmembranei109 – 143Helical; Name=3By similarityAdd BLAST35
Transmembranei176 – 202Helical; Name=4By similarityAdd BLAST27
Transmembranei207 – 241Helical; Name=5By similarityAdd BLAST35
Transmembranei273 – 298Helical; Name=6By similarityAdd BLAST26

GO - Cellular componenti

  • integral component of plasma membrane Source: ProtInc
  • mitochondrial inner membrane Source: GO_Central
  • mitochondrion Source: UniProtKB
  • myelin sheath Source: Ensembl
  • nucleus Source: UniProtKB

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:609283
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03881490A → D in PEOA2; decreased function in ADP transport. 2 Publications1
Natural variantiVAR_02245998L → P in PEOA2; decreased function in ADP transport. 3 PublicationsCorresponds to variant dbSNP:rs104893876Ensembl.1
Natural variantiVAR_022460104D → G in PEOA2; decreased function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs28999114Ensembl.1
Natural variantiVAR_012111114A → P in PEOA2; decreased function in ADP transport. 3 PublicationsCorresponds to variant dbSNP:rs104893873Ensembl.1
Natural variantiVAR_012112289V → M in PEOA2. 2 PublicationsCorresponds to variant dbSNP:rs104893874Ensembl.1
Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type (MTDPS12B)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:615418
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038815123A → D in MTDPS12B; loss of function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs121912683Ensembl.1
Natural variantiVAR_078073236R → P in MTDPS12B; loss of function in ADP transport. 2 Publications1
Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type (MTDPS12A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies.
See also OMIM:617184
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07807180R → H in MTDPS12A; decreased function in ADP transport. 1 Publication1
Natural variantiVAR_078072235R → G in MTDPS12A; severely decreased function in ADP transport. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNETi291.
MalaCardsiSLC25A4.
MIMi609283. phenotype.
615418. phenotype.
617184. phenotype.
OpenTargetsiENSG00000151729.
Orphaneti254892. Autosomal dominant progressive external ophthalmoplegia.
1369. Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy.
155. Familial isolated hypertrophic cardiomyopathy.
PharmGKBiPA35866.

Chemistry databases

DrugBankiDB01736. [3-(Dodecanoylamino)Propyl](Hydroxy)Dimethylammonium.
DB00171. Adenosine triphosphate.
DB02426. Carboxyatractyloside.
DB03429. Cardiolipin.
DB00720. Clodronate.
DB04178. Di-Stearoyl-3-Sn-Phosphatidylcholine.

Polymorphism and mutation databases

BioMutaiSLC25A4.
DMDMi113455.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000905742 – 298ADP/ATP translocase 1Add BLAST297

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylglycine1 Publication1
Modified residuei147N6-succinyllysineBy similarity1
Modified residuei160S-nitrosocysteineBy similarity1
Modified residuei245N6-succinyllysineBy similarity1
Modified residuei272N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation, S-nitrosylation

Proteomic databases

EPDiP12235.
MaxQBiP12235.
PaxDbiP12235.
PeptideAtlasiP12235.
PRIDEiP12235.
TopDownProteomicsiP12235.

PTM databases

iPTMnetiP12235.
PhosphoSitePlusiP12235.
SwissPalmiP12235.

Expressioni

Gene expression databases

BgeeiENSG00000151729.
CleanExiHS_SLC25A4.
ExpressionAtlasiP12235. baseline and differential.
GenevisibleiP12235. HS.

Organism-specific databases

HPAiHPA046835.
HPA071684.

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. 61 interactors.
DIPiDIP-33116N.
IntActiP12235. 21 interactors.
MINTiMINT-196037.
STRINGi9606.ENSP00000281456.

Structurei

3D structure databases

ProteinModelPortaliP12235.
SMRiP12235.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati6 – 98Solcar 1Add BLAST93
Repeati111 – 201Solcar 2Add BLAST91
Repeati212 – 297Solcar 3Add BLAST86

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi235 – 240Substrate recognitionBy similarity6

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0749. Eukaryota.
ENOG410XNW0. LUCA.
GeneTreeiENSGT00390000011543.
HOGENOMiHOG000165727.
HOVERGENiHBG108348.
InParanoidiP12235.
KOiK05863.
OMAiGMPPFVA.
OrthoDBiEOG091G0ULB.
PhylomeDBiP12235.
TreeFamiTF300743.

Family and domain databases

Gene3Di1.50.40.10. 1 hit.
InterProiView protein in InterPro
IPR002113. Aden_trnslctor.
IPR002067. Mit_carrier.
IPR018108. Mitochondrial_sb/sol_carrier.
IPR023395. Mt_carrier_dom.
PfamiView protein in Pfam
PF00153. Mito_carr. 3 hits.
PRINTSiPR00927. ADPTRNSLCASE.
PR00926. MITOCARRIER.
SUPFAMiSSF103506. SSF103506. 1 hit.
PROSITEiView protein in PROSITE
PS50920. SOLCAR. 3 hits.

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)DescriptionActionsGraphical viewLength
Sequence conflicti16G → A in AAA61223 (PubMed:2823266).Curated1
Sequence conflicti147 – 149KGA → RR in AAA61223 (PubMed:2823266).Curated3
Sequence conflicti227V → L in AAA61223 (PubMed:2823266).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07807180R → H in MTDPS12A; decreased function in ADP transport. 1 Publication1
Natural variantiVAR_03881490A → D in PEOA2; decreased function in ADP transport. 2 Publications1
Natural variantiVAR_02245998L → P in PEOA2; decreased function in ADP transport. 3 PublicationsCorresponds to variant dbSNP:rs104893876Ensembl.1
Natural variantiVAR_022460104D → G in PEOA2; decreased function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs28999114Ensembl.1
Natural variantiVAR_012111114A → P in PEOA2; decreased function in ADP transport. 3 PublicationsCorresponds to variant dbSNP:rs104893873Ensembl.1
Natural variantiVAR_038815123A → D in MTDPS12B; loss of function in ADP transport. 2 PublicationsCorresponds to variant dbSNP:rs121912683Ensembl.1
Natural variantiVAR_078072235R → G in MTDPS12A; severely decreased function in ADP transport. 1 Publication1
Natural variantiVAR_078073236R → P in MTDPS12B; loss of function in ADP transport. 2 Publications1
Natural variantiVAR_012112289V → M in PEOA2. 2 PublicationsCorresponds to variant dbSNP:rs104893874Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human.

Similar proteinsi

Entry informationi

Entry nameiADT1_HUMAN
AccessioniPrimary (citable) accession number: P12235
Secondary accession number(s): D3DP59
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: January 23, 2007
Last modified: August 30, 2017
This is version 203 of the entry and version 4 of the sequence. See 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

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