Human Gene SLC25A4 (ENST00000281456.11_4) from GENCODE V47lift37
  Description: solute carrier family 25 member 4 (from RefSeq NM_001151.4)
Gencode Transcript: ENST00000281456.11_4
Gencode Gene: ENSG00000151729.11_7
Transcript (Including UTRs)
   Position: hg19 chr4:186,064,420-186,071,536 Size: 7,117 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr4:186,064,527-186,068,125 Size: 3,599 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:186,064,420-186,071,536)mRNA (may differ from genome)Protein (298 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ADT1_HUMAN
DESCRIPTION: RecName: Full=ADP/ATP translocase 1; AltName: Full=ADP,ATP carrier protein 1; AltName: Full=ADP,ATP carrier protein, heart/skeletal muscle isoform T1; AltName: Full=Adenine nucleotide translocator 1; Short=ANT 1; AltName: Full=Solute carrier family 25 member 4;
FUNCTION: Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.
SUBUNIT: Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with ARL2BP (By similarity). Homodimer. Interacts with HIV-1 Vpr.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Multi-pass membrane protein.
DISEASE: Defects in SLC25A4 are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal dominant type 2 (PEOA2) [MIM:609283]. Progressive external ophthalmoplegia is 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.
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).
SIMILARITY: Belongs to the mitochondrial carrier family.
SIMILARITY: Contains 3 Solcar repeats.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC25A4";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC25A4
Diseases sorted by gene-association score: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2* (1332), mitochondrial dna depletion syndrome 12a ad* (1200), mitochondrial dna depletion syndrome 12b ar* (1200), congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome* (247), mitochondrial metabolism disease* (165), autosomal dominant progressive external ophthalmoplegia* (165), mitochondrial disorders* (138), slc25a4-related mitochondrial dna depletion syndrome, cardiomyopathic form* (100), sengers syndrome (19), chronic progressive external ophthalmoplegia (17), axonal neuropathy (13), facioscapulohumeral muscular dystrophy 1 (11), mitochondrial dna depletion syndrome 7 (8), kearns-sayre syndrome (6), ocular motility disease (5), cardiomyopathy (4), myopathy (2), dilated cardiomyopathy (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D016572 Cyclosporine
  • D004997 Ethinyl Estradiol
  • D013629 Tamoxifen
  • D013749 Tetrachlorodibenzodioxin
  • C049325 1,2-dithiol-3-thione
  • C403065 10-(fluoroethoxyphosphinyl)-N-(biotinamidopentyl)decanamide
  • D015073 2-Acetylaminofluorene
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • C030370 2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone
  • C017906 3-dinitrobenzene
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 385.58 RPKM in Heart - Left Ventricle
Total median expression: 1725.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.70107-0.493 Picture PostScript Text
3' UTR -997.303411-0.292 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002113 - Aden_trnslctor
IPR002067 - Mit_carrier
IPR018108 - Mitochondrial_sb/sol_carrier
IPR023395 - Mt_carrier_dom

Pfam Domains:
PF00153 - Mitochondrial carrier protein

SCOP Domains:
101307 - YutG-like
103506 - Mitochondrial carrier

ModBase Predicted Comparative 3D Structure on P12235
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005471 ATP:ADP antiporter activity
GO:0005515 protein binding
GO:0015207 adenine transmembrane transporter activity
GO:0022857 transmembrane transporter activity

Biological Process:
GO:0000002 mitochondrial genome maintenance
GO:0006091 generation of precursor metabolites and energy
GO:0008637 apoptotic mitochondrial changes
GO:0015853 adenine transport
GO:0015866 ADP transport
GO:0015867 ATP transport
GO:0016032 viral process
GO:0046902 regulation of mitochondrial membrane permeability
GO:0050796 regulation of insulin secretion
GO:0055085 transmembrane transport
GO:0060546 negative regulation of necroptotic process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032592 integral component of mitochondrial membrane
GO:0043209 myelin sheath


-  Descriptions from all associated GenBank mRNAs
  J02966 - Human mitochondrial ADP/ADT translocator mRNA, complete cds.
AK291902 - Homo sapiens cDNA FLJ75273 complete cds, highly similar to Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4, mRNA.
BC063643 - Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4, mRNA (cDNA clone MGC:70914 IMAGE:4708068), complete cds.
BC008664 - Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4, mRNA (cDNA clone MGC:9281 IMAGE:3871960), complete cds.
AB209764 - Homo sapiens mRNA for solute carrier family 25 member 4 variant protein.
BC061589 - Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4, mRNA (cDNA clone MGC:75169 IMAGE:6195081), complete cds.
J03593 - Human ADP/ATP translocase mRNA, 5' end, clone pHAT14.
DQ894735 - Synthetic construct Homo sapiens clone IMAGE:100009195; FLH177938.01L; RZPDo839F08125D solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 (SLC25A4) gene, encodes complete protein.
DQ891547 - Synthetic construct clone IMAGE:100004177; FLH177942.01X; RZPDo839F08126D solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 (SLC25A4) gene, encodes complete protein.
AB464231 - Synthetic construct DNA, clone: pF1KB6366, Homo sapiens SLC25A4 gene for solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4, without stop codon, in Flexi system.
KJ890673 - Synthetic construct Homo sapiens clone ccsbBroadEn_00067 SLC25A4 gene, encodes complete protein.
KR709659 - Synthetic construct Homo sapiens clone CCSBHm_00004944 SLC25A4 (SLC25A4) mRNA, encodes complete protein.
KR709660 - Synthetic construct Homo sapiens clone CCSBHm_00004947 SLC25A4 (SLC25A4) mRNA, encodes complete protein.
KR709661 - Synthetic construct Homo sapiens clone CCSBHm_00004948 SLC25A4 (SLC25A4) mRNA, encodes complete protein.
KR709662 - Synthetic construct Homo sapiens clone CCSBHm_00004949 SLC25A4 (SLC25A4) mRNA, encodes complete protein.
KU177900 - Homo sapiens solute carrier family 25 member 4 isoform 1 (SLC25A4) mRNA, partial cds.
KU177901 - Homo sapiens solute carrier family 25 member 4 isoform 2 (SLC25A4) mRNA, partial cds, alternatively spliced.
KU177902 - Homo sapiens solute carrier family 25 member 4 isoform 3 (SLC25A4) mRNA, partial cds, alternatively spliced.
JD026342 - Sequence 7366 from Patent EP1572962.
JD033251 - Sequence 14275 from Patent EP1572962.
JD023680 - Sequence 4704 from Patent EP1572962.
JD028537 - Sequence 9561 from Patent EP1572962.
JD154695 - Sequence 135719 from Patent EP1572962.
JD314954 - Sequence 295978 from Patent EP1572962.
JD089054 - Sequence 70078 from Patent EP1572962.
JD194629 - Sequence 175653 from Patent EP1572962.
JD537266 - Sequence 518290 from Patent EP1572962.
JD135679 - Sequence 116703 from Patent EP1572962.
JD135676 - Sequence 116700 from Patent EP1572962.
JD135678 - Sequence 116702 from Patent EP1572962.
JD238022 - Sequence 219046 from Patent EP1572962.
JD238021 - Sequence 219045 from Patent EP1572962.
AF052119 - Homo sapiens clone 23622 mRNA sequence.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_etcPathway - Electron Transport Reaction in Mitochondria

Reactome (by CSHL, EBI, and GO)

Protein P12235 (Reactome details) participates in the following event(s):

R-HSA-5250209 ARL2:GTP:ARL2BP binds SLC25A4
R-HSA-180905 Association of Vpr with ANT1
R-HSA-1307803 TIMM22 inserts proteins into inner membrane
R-HSA-1268022 TOMM40 complex translocates proteins from the cytosol to the mitochondrial intermembrane space
R-HSA-1299481 TIMM9:TIMM10 binds hydrophobic proteins
R-HSA-5672027 ARL2:GTP:ARL2BP:SLC25A4 dimer exchanges ATP for ADP across the mitochondrial inner membrane
R-HSA-1955380 TIMM9:TIMM10 transfers proteins to TIMM22
R-HSA-422356 Regulation of insulin secretion
R-HSA-180897 Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization
R-HSA-1268020 Mitochondrial protein import
R-HSA-163685 Energy Metabolism
R-HSA-176033 Interactions of Vpr with host cellular proteins
R-HSA-392499 Metabolism of proteins
R-HSA-1430728 Metabolism
R-HSA-162909 Host Interactions of HIV factors
R-HSA-162906 HIV Infection
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: AAC1 , ADT1_HUMAN, ANT1 , D3DP59, ENST00000281456.1, ENST00000281456.10, ENST00000281456.2, ENST00000281456.3, ENST00000281456.4, ENST00000281456.5, ENST00000281456.6, ENST00000281456.7, ENST00000281456.8, ENST00000281456.9, NM_001151, P12235, SLC25A4 , uc317jwp.1, uc317jwp.2
UCSC ID: ENST00000281456.11_4
RefSeq Accession: NM_001151.4
Protein: P12235 (aka ADT1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.