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Aliases for SLC25A4 Gene

Aliases for SLC25A4 Gene

  • Solute Carrier Family 25 Member 4 2 3 4
  • Solute Carrier Family 25 (Mitochondrial Carrier; Adenine Nucleotide Translocator), Member 4 2 3
  • ADP,ATP Carrier Protein 1 3 4
  • ANT 1 3 4
  • ANT1 3 4
  • Solute Carrier Family 25 (Mitochondrial Carrier Adenine Nucleotide Translocator), Member 4 5
  • ADP,ATP Carrier Protein, Heart/Skeletal Muscle Isoform T1 4
  • Adenine Nucleotide Translocator 1 (Skeletal Muscle) 3
  • ADP,ATP Carrier Protein, Heart/Skeletal Muscle 3
  • Heart/Skeletal Muscle ATP/ADP Translocator 3
  • Adenine Nucleotide Translocator 1 4
  • MTDPS12 3
  • PEOA2 3
  • AAC1 3
  • PEO2 3
  • PEO3 3
  • ANT 3
  • T1 3

External Ids for SLC25A4 Gene

Previous HGNC Symbols for SLC25A4 Gene

  • PEO3
  • PEO2
  • ANT1

Previous GeneCards Identifiers for SLC25A4 Gene

  • GC04P187100
  • GC04P186744
  • GC04P186648
  • GC04P186760
  • GC04P186439
  • GC04P186301
  • GC04P186064
  • GC04P181818

Summaries for SLC25A4 Gene

Entrez Gene Summary for SLC25A4 Gene

  • This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]

GeneCards Summary for SLC25A4 Gene

SLC25A4 (Solute Carrier Family 25 Member 4) is a Protein Coding gene. Diseases associated with SLC25A4 include progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 and mitochondrial dna depletion syndrome 12. Among its related pathways are Metabolism and Transport to the Golgi and subsequent modification. GO annotations related to this gene include transporter activity and adenine transmembrane transporter activity. An important paralog of this gene is SLC25A5.

UniProtKB/Swiss-Prot for SLC25A4 Gene

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

Gene Wiki entry for SLC25A4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A4 Gene

Genomics for SLC25A4 Gene

Regulatory Elements for SLC25A4 Gene

Promoters for SLC25A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SLC25A4 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC25A4 Gene

Chromosome:
4
Start:
185,143,241 bp from pter
End:
185,150,384 bp from pter
Size:
7,144 bases
Orientation:
Plus strand

Genomic View for SLC25A4 Gene

Genes around SLC25A4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A4 Gene

Proteins for SLC25A4 Gene

  • Protein details for SLC25A4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12235-ADT1_HUMAN
    Recommended name:
    ADP/ATP translocase 1
    Protein Accession:
    P12235
    Secondary Accessions:
    • D3DP59

    Protein attributes for SLC25A4 Gene

    Size:
    298 amino acids
    Molecular mass:
    33064 Da
    Quaternary structure:
    • Found in a complex with ARL2, ARL2BP and SLC25A4. Interacts with ARL2BP (By similarity). Homodimer. Interacts with HIV-1 Vpr.
    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).

neXtProt entry for SLC25A4 Gene

Proteomics data for SLC25A4 Gene at MOPED

Post-translational modifications for SLC25A4 Gene

  • Ubiquitination at Lys 43 and Lys 63
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A4 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for SLC25A4 Gene

Domains & Families for SLC25A4 Gene

Gene Families for SLC25A4 Gene

Suggested Antigen Peptide Sequences for SLC25A4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P12235

UniProtKB/Swiss-Prot:

ADT1_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 3 Solcar repeats.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 3 Solcar repeats.
genes like me logo Genes that share domains with SLC25A4: view

Function for SLC25A4 Gene

Molecular function for SLC25A4 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the exchange of cytoplasmic ADP with mitochondrial ATP across the mitochondrial inner membrane.

Gene Ontology (GO) - Molecular Function for SLC25A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity IEA --
genes like me logo Genes that share ontologies with SLC25A4: view
genes like me logo Genes that share phenotypes with SLC25A4: view

Human Phenotype Ontology for SLC25A4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SLC25A4 Gene

MGI Knock Outs for SLC25A4:

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A4

CRISPR Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLC25A4 Gene

Localization for SLC25A4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A4 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A4 Gene COMPARTMENTS Subcellular localization image for SLC25A4 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 4
cytosol 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 2823266
genes like me logo Genes that share ontologies with SLC25A4: view

Pathways & Interactions for SLC25A4 Gene

genes like me logo Genes that share pathways with SLC25A4: view

Gene Ontology (GO) - Biological Process for SLC25A4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000002 mitochondrial genome maintenance TAS 10926541
GO:0006091 generation of precursor metabolites and energy TAS 2823266
GO:0006112 energy reserve metabolic process TAS --
GO:0016032 viral process IEA,TAS --
genes like me logo Genes that share ontologies with SLC25A4: view

No data available for SIGNOR curated interactions for SLC25A4 Gene

Drugs & Compounds for SLC25A4 Gene

(10) Drugs for SLC25A4 Gene - From: Novoseek, DrugBank, IUPHAR, DGIdb, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clodronate Approved, Investigational Pharma inhibitor, Target 0
Adenosine triphosphate Approved Nutra Target 0
carboxyatractyloside Experimental Pharma Inhibition, Inhibitor, Target 0
[3-(Dodecanoylamino)Propyl](Hydroxy)Dimethylammonium Experimental Pharma Target 0
Cardiolipin Experimental Pharma Target 0

(12) Additional Compounds for SLC25A4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC25A4: view

Transcripts for SLC25A4 Gene

mRNA/cDNA for SLC25A4 Gene

Unigene Clusters for SLC25A4 Gene

Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A4 Gene

No ASD Table

Relevant External Links for SLC25A4 Gene

GeneLoc Exon Structure for
SLC25A4
ECgene alternative splicing isoforms for
SLC25A4

Expression for SLC25A4 Gene

mRNA expression in normal human tissues for SLC25A4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC25A4 Gene

This gene is overexpressed in Heart - Left Ventricle (x15.6), Muscle - Skeletal (x8.6), and Heart - Atrial Appendage (x8.5).

Protein differential expression in normal tissues from HIPED for SLC25A4 Gene

This gene is overexpressed in Heart (32.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC25A4 Gene



SOURCE GeneReport for Unigene cluster for SLC25A4 Gene Hs.246506

genes like me logo Genes that share expression patterns with SLC25A4: view

Protein tissue co-expression partners for SLC25A4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for SLC25A4 Gene

Orthologs for SLC25A4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A4 36
  • 99 (a)
OneToOne
SLC25A4 35
  • 97.43 (n)
  • 97.32 (a)
cow
(Bos Taurus)
Mammalia SLC25A4 36
  • 96 (a)
OneToOne
SLC25A4 35
  • 92.73 (n)
  • 95.97 (a)
dog
(Canis familiaris)
Mammalia SLC25A4 35
  • 90.38 (n)
  • 94.3 (a)
SLC25A4 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a4 16
Slc25a4 36
  • 95 (a)
OneToOne
Slc25a4 35
  • 91.28 (n)
  • 95.3 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC25A4 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc25a4 35
  • 91.72 (n)
  • 95.64 (a)
chicken
(Gallus gallus)
Aves SLC25A4 36
  • 94 (a)
OneToOne
SLC25A4 35
  • 83.45 (n)
  • 93.62 (a)
lizard
(Anolis carolinensis)
Reptilia SLC25A4 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC75662 35
slc25a4 35
  • 79.64 (n)
  • 89.6 (a)
zebrafish
(Danio rerio)
Actinopterygii slc25a4 35
  • 77.52 (n)
  • 88.59 (a)
slc25a4 36
  • 89 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ADT2_ANOGA 35
  • 72.76 (n)
  • 79.31 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ant2 37
  • 73 (a)
sesB 37
  • 79 (a)
Ant2 36
  • 72 (a)
ManyToMany
sesB 36
  • 76 (a)
ManyToMany
sesB 35
  • 74 (n)
  • 81.1 (a)
worm
(Caenorhabditis elegans)
Secernentea ant-1.4 36
  • 65 (a)
ManyToMany
C47E12.2 37
  • 50 (a)
F25B4.7 37
  • 47 (a)
K01H12.2 37
  • 69 (a)
R07E3.4 37
  • 44 (a)
T01B11.4 37
  • 69 (a)
W02D3.6 37
  • 65 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAC1 36
  • 51 (a)
ManyToMany
AAC3 36
  • 50 (a)
ManyToMany
PET9 36
  • 49 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2354 36
  • 52 (a)
ManyToMany
Species with no ortholog for SLC25A4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC25A4 Gene

ENSEMBL:
Gene Tree for SLC25A4 (if available)
TreeFam:
Gene Tree for SLC25A4 (if available)

Paralogs for SLC25A4 Gene

Paralogs for SLC25A4 Gene

(8) SIMAP similar genes for SLC25A4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SLC25A4: view

Variants for SLC25A4 Gene

Sequence variations from dbSNP and Humsavar for SLC25A4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_012111 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)
VAR_012112 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)
VAR_022459 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)
rs28999114 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) 185,144,963(+) TGTGG(A/G)TCGGC reference, missense
VAR_038814 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)

Structural Variations from Database of Genomic Variants (DGV) for SLC25A4 Gene

Variant ID Type Subtype PubMed ID
nsv461859 CNV Loss 19166990

Variation tolerance for SLC25A4 Gene

Residual Variation Intolerance Score: 29.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 7.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC25A4 Gene

HapMap Linkage Disequilibrium report
SLC25A4
Human Gene Mutation Database (HGMD)
SLC25A4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A4 Gene

Disorders for SLC25A4 Gene

MalaCards: The human disease database

(22) MalaCards diseases for SLC25A4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ADT1_HUMAN
  • 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. {ECO:0000269 PubMed:10926541, ECO:0000269 PubMed:11756613, ECO:0000269 PubMed:12112115, ECO:0000269 PubMed:15792871, ECO:0000269 PubMed:18575922}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:22187496}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC25A4

Genetic Association Database (GAD)
SLC25A4
Human Genome Epidemiology (HuGE) Navigator
SLC25A4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A4
genes like me logo Genes that share disorders with SLC25A4: view

No data available for Genatlas for SLC25A4 Gene

Publications for SLC25A4 Gene

  1. Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia. (PMID: 18575922) Virgilio R. … Comi G.P. (J. Neurol. 2008) 3 4 23 48 67
  2. Assignment of the human muscle adenine nucleotide translocator gene (ANT1) to 4q35 by fluorescence in situ hybridization. (PMID: 1582253) Fan Y.S. … Lin C.C. (Cytogenet. Cell Genet. 1992) 2 3 23
  3. A functional role for 4qA/B in the structural rearrangement of the 4q35 region and in the regulation of FRG1 and ANT1 in facioscapulohumeral dystrophy. (PMID: 18852887) Pirozhkova I. … Vassetzky Y. (PLoS ONE 2008) 3 23
  4. An isoform shift in the cardiac adenine nucleotide translocase expression alters the kinetic properties of the carrier in dilated cardiomyopathy. (PMID: 16107323) DAPrner A. … Schultheiss H.P. (Eur. J. Heart Fail. 2006) 3 23
  5. Apoptotic and anti-proliferative effects of all-trans retinoic acid. Adenine nucleotide translocase sensitizes HeLa cells to all-trans retinoic acid. (PMID: 16556444) Zamora M. … Mampel T. (Exp. Cell Res. 2006) 3 23

Products for SLC25A4 Gene

Sources for SLC25A4 Gene

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