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Slc25a4 Gene Detail
Summary
  • Symbol
    Slc25a4
  • Name
    solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 4
  • Synonyms
    adenine nucleotide translocase-1, Ant1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353495
    NCBI Gene: 11739
  • Gene Overview
    MyGene.info: SLC25A4
Location & Maps
more
  • Sequence Map
    Chr8:46206797-46211284 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      4488 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 8, 26.22 cM
  • Mapping Data
    13 experiments
Homology
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  • Human Ortholog
    SLC25A4, solute carrier family 25 member 4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC25A4, solute carrier family 25 member 4
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AAC1, ANT, ANT1, ANT 1, MTDPS12, PEO2, PEO3, PEOA2, T1
  • Links
    NCBI Gene ID: 291
    neXtProt AC: NX_P12235

  • Chr Location
    4q35; chr4:185143263-185150384 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human SLC25A4 associations

Human Disease Mouse Models
       Mitochondrial DNA Depletion Syndrome 12 (cardiomyopathic Type); MTDPS12   OMIM: 615418
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant 2; PEOA2   OMIM: 609283
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 3 alleles in 4 genetic backgrounds
    1 phenotype from multigenic genotypes
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (other)
    1
  • Targeted
    5
  • Genomic Mutations
    1 involving Slc25a4
  • Incidental Mutations
    APF , CvDC
Homozygous null mice exhibit a defect in mitochondrial energy metabolism and develop mitochondrial myopathy and hypertrophic cardiomyopathy, metabolic acidosis, and a severe exercise intolerance.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016487 VEGA Gene Model | MGI Sequence Detail 4488 C57BL/6J ±  kb
transcript OTTMUST00000039783 VEGA | MGI Sequence Detail 1925 Not Applicable  
polypeptide OTTMUSP00000017747 VEGA | MGI Sequence Detail 298 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1 from dbSNP Build 142
  • PCR
  • RFLP
Protein
Information
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  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000015032 ADP/ATP translocase 1
  • InterPro Domains
    IPR002113 Adenine nucleotide translocator 1
    IPR023395 Mitochondrial carrier domain
    IPR002067 Mitochondrial carrier protein
    IPR018108 Mitochondrial substrate/solute carrier
Molecular
Reagents
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  • All nucleic 535
    Genomic 2
    cDNA 526
    Primer pair 6
    Other 1

    Microarray probesets 6
Other
Accession IDs
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MGD-MRK-16246, MGI:2142690, MGI:99472
References
more
  • Summaries
    All 61
    Developmental Gene Expression 4
    Gene Ontology 11
    Phenotypes 13
  • Earliest
    J:41737 Cozens AL, et al., DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase. J Mol Biol. 1989 20;206(2):261-80
  • Latest
    J:195325 Strauss KA, et al., Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3453-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory