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    SLC25A4 solute carrier family 25 member 4 [ Homo sapiens (human) ]

    Gene ID: 291, updated on 9-Jun-2016
    Official Symbol
    SLC25A4provided by HGNC
    Official Full Name
    solute carrier family 25 member 4provided by HGNC
    Primary source
    HGNC:HGNC:10990
    See related
    Ensembl:ENSG00000151729 HPRD:00058; MIM:103220; Vega:OTTHUMG00000134299
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    T1; ANT; AAC1; ANT1; PEO2; PEO3; ANT 1; PEOA2; MTDPS12
    Summary
    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]
    Orthologs
    Location:
    4q35
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (185143263..185150384)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186064417..186071538)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928877 Neighboring gene helt bHLH transcription factor Neighboring gene uncharacterized LOC105377588 Neighboring gene cilia and flagella associated protein 97 Neighboring gene sorting nexin 25 Neighboring gene uncharacterized LOC105377591 Neighboring gene LRP2 binding protein

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Vpr vpr HIV-1 Vpr peptides 27-51 and 71-82 bind to adenine nucleotide translocator (ANT) in a region encompassing the first ANT intermembrane space loop and part of its second and third transmembrane helices PubMed
    vpr HIV-1 Vpr (amino acids 71-96) induces mitochondrial membrane permeabilization and apoptosis via a specific binding interaction with the adenine nucleotide translocator (amino acids 104-116) PubMed
    vpr Interaction of HIV-1 Vpr with human adenine nucleotide translocator (ANT) is presumed based on a specific binding interaction between Vpr and rat ANT PubMed
    retropepsin gag-pol HIV-1 PR cleaves ANT in a dose-dependent manner in HEK293 cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Electron Transport Chain, organism-specific biosystem (from WikiPathways)
      Electron Transport Chain, organism-specific biosystemAn electron transport chain(ETC) couples a chemical reaction between an electron donor (such as NADH) and an electron acceptor (such as O2) to the transfer of H+ ions across a membrane, through a set...
    • HIV Infection, organism-specific biosystem (from REACTOME)
      HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Host Interactions of HIV factors, organism-specific biosystem (from REACTOME)
      Host Interactions of HIV factors, organism-specific biosystemLike all viruses, HIV-1 must co-opt the host cell macromolecular transport and processing machinery. HIV-1 Vpr and Rev proteins play key roles in this co-optation. Efficient HIV-1 replication likewis...
    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Infectious disease, organism-specific biosystem (from REACTOME)
      Infectious disease, organism-specific biosystem
      Infectious disease
    • Integration of energy metabolism, organism-specific biosystem (from REACTOME)
      Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
    • Interactions of Vpr with host cellular proteins, organism-specific biosystem (from REACTOME)
      Interactions of Vpr with host cellular proteins, organism-specific biosystemVpr has been implicated in multiple processes during HIV-1 replication, including nuclear import of the pre-integration complex (PIC)(Heinzinger et al., 1994), apoptosis (Stewart et al., 1997) and in...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
      Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...
    • Parkinson's disease, organism-specific biosystem (from KEGG)
      Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
    • Regulation of insulin secretion, organism-specific biosystem (from REACTOME)
      Regulation of insulin secretion, organism-specific biosystemPancreatic beta cells integrate signals from several metabolites and hormones to control the secretion of insulin. In general, glucose triggers insulin secretion while other factors can amplify or in...
    • SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
      Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
    • Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization, organism-specific biosystem (from REACTOME)
      Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization, organism-specific biosystemIn one model of Vpr mediated induction of apoptosis, Vpr acts directly on the mitochondrial permeability transition pore complex through its interaction with adenine nucleotide translocator (ANT). Th...
    • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
      cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
      cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    adenine transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    adenine transport IEA
    Inferred from Electronic Annotation
    more info
     
    apoptotic mitochondrial changes IEA
    Inferred from Electronic Annotation
    more info
     
    generation of precursor metabolites and energy TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial genome maintenance TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of insulin secretion TAS
    Traceable Author Statement
    more info
     
    translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myelin sheath IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ADP/ATP translocase 1
    Names
    ADP,ATP carrier protein 1
    ADP,ATP carrier protein, heart/skeletal muscle
    adenine nucleotide translocator 1 (skeletal muscle)
    heart/skeletal muscle ATP/ADP translocator
    solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013001.1 RefSeqGene

      Range
      5001..12122
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001151.3NP_001142.2  ADP/ATP translocase 1

      See identical proteins and their annotated locations for NP_001142.2

      Status: REVIEWED

      Source sequence(s)
      AC093592, AC093824, AC112237, BC008664, BI544547
      Consensus CDS
      CCDS34114.1
      UniProtKB/Swiss-Prot
      P12235
      UniProtKB/TrEMBL
      A0A0S2Z3H3
      Related
      ENSP00000281456, OTTHUMP00000165924, ENST00000281456, OTTHUMT00000259170
      Conserved Domains (2) summary
      PTZ00169
      Location:7298
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional
      pfam00153
      Location:7101
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      185143263..185150384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      186040918..186048039
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)