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Aliases for SLC25A4 Gene

Aliases for SLC25A4 Gene

  • Solute Carrier Family 25 Member 4 2 3 4 5
  • 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
  • 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
  • ADP/ATP Translocase 1 3
  • MTDPS12A 3
  • 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 HTLV-I infection and Metabolism. 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

Enhancers for SLC25A4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F185115 1.2 Ensembl ENCODE 12.3 -27.1 -27114 0.7 ATF1 CREB3L1 ARID4B YY1 GATA2 FOS NFYC REST SMARCB1 KAT8 SLC25A4 HELT LOC105377588
GH04F185111 1.1 Ensembl ENCODE 11.9 -30.3 -30327 3.0 TBP CTCF JUN YY1 NCOR1 POLR3A NR2F6 FOS TCF7L2 SMARCE1 SLC25A4 HELT LOC105377588
GH04F185120 0.7 Ensembl 12.3 -22.8 -22841 0.8 CHAMP1 ZFHX2 ZNF316 GATA2 PATZ1 NFE2 MAFK EGR2 MAFG DPF2 SLC25A4 HELT LOC105377588
GH04F185106 0.7 ENCODE 11.9 -34.5 -34463 4.0 PKNOX1 TEAD4 ZIC2 RAD21 YY1 NR2F2 HNF1A POLR2A SMARCA4 ATF3 SLC25A4 HELT LOC105377588
GH04F185142 1.1 ENCODE 7.2 -0.1 -66 2.1 CREB3L1 MLX ARID4B SIN3A YY1 ZNF143 ZNF207 SP3 SP5 NFYC CFAP97 SLC25A4 LOC105377588
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC25A4 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001255848 360 2400 CREB3L1 MLX ARID4B SIN3A YY1 ZNF143 ZNF207 SP3 SP5 NFYC

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

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:

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 --
GO:0005515 protein binding IPI 16507998
GO:0015207 adenine transmembrane transporter activity TAS 2823266
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

Inhibitory RNA Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IEA,IDA 20833797
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005887 integral component of plasma membrane TAS 2823266
GO:0016020 membrane IEA --
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:0006810 transport IEA,TAS 2823266
GO:0008637 apoptotic mitochondrial changes IEA --
GO:0015853 adenine transport IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clodronate Approved, Investigational, Vet_approved 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for SLC25A4 Gene

Compound Action Cas Number
Atractyloside Dipotassium Salt ANT inhibitor 102130-43-8
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:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for SLC25A4 Gene



Protein tissue co-expression partners for SLC25A4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC25A4 Gene:

SLC25A4

SOURCE GeneReport for Unigene cluster for SLC25A4 Gene:

Hs.246506
genes like me logo Genes that share expression patterns with SLC25A4: view

Primer 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 34 35
  • 97.43 (n)
cow
(Bos Taurus)
Mammalia SLC25A4 34 35
  • 92.73 (n)
rat
(Rattus norvegicus)
Mammalia Slc25a4 34
  • 91.72 (n)
mouse
(Mus musculus)
Mammalia Slc25a4 34 16 35
  • 91.28 (n)
dog
(Canis familiaris)
Mammalia SLC25A4 34 35
  • 90.38 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A4 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC25A4 34 35
  • 83.45 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A4 35
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc25a4 34
  • 79.64 (n)
MGC75662 34
zebrafish
(Danio rerio)
Actinopterygii slc25a4 34 35
  • 77.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta sesB 36 34 35
  • 74 (n)
Ant2 36 35
  • 73 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta ADT2_ANOGA 34
  • 72.76 (n)
worm
(Caenorhabditis elegans)
Secernentea K01H12.2 36
  • 69 (a)
T01B11.4 36
  • 69 (a)
W02D3.6 36
  • 65 (a)
ant-1.4 35
  • 65 (a)
ManyToMany
C47E12.2 36
  • 50 (a)
F25B4.7 36
  • 47 (a)
R07E3.4 36
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAC1 35
  • 51 (a)
ManyToMany
AAC3 35
  • 50 (a)
ManyToMany
PET9 35
  • 49 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2354 35
  • 52 (a)
ManyToMany
Species where no ortholog for SLC25A4 was found in the sources mined by GeneCards:
  • 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
rs104893873 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283], Pathogenic 185,144,992(+) ACTTT(C/G)CTGGT reference, missense
rs104893874 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283], Pathogenic 185,146,939(+) TATTG(A/G)TGTTG reference, missense
rs104893876 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283], Pathogenic 185,144,945(+) GCAGC(C/T)CTTCT reference, missense
rs28999114 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283], Pathogenic 185,144,963(+) TGTGG(A/G)TCGGC reference, missense
VAR_038814 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2) [MIM:609283]

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

Variant ID Type Subtype PubMed ID
nsv596369 CNV loss 21841781
nsv461859 CNV loss 19166990
nsv1073398 CNV deletion 25765185

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

Human Gene Mutation Database (HGMD)
SLC25A4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A4

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

Disorders for SLC25A4 Gene

MalaCards: The human disease database

(14) 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
  • 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.
  • 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.

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 22 46 64
  2. A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. (PMID: 15792871) Deschauer M. … Zierz S. (Neuromuscul. Disord. 2005) 3 4 22 64
  3. A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. (PMID: 11756613) Napoli L. … Comi G.P. (Neurology 2001) 3 4 22 64
  4. 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 22 64
  5. Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy. (PMID: 22187496) Echaniz-Laguna A. … Mousson de Camaret B. (J. Med. Genet. 2012) 3 4 64

Products for SLC25A4 Gene

Sources for SLC25A4 Gene

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