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

    Gene ID: 291, updated on 23-Nov-2023

    Summary

    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 MIM:103220; AllianceGenome:HGNC:10990
    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; MTDPS12A
    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]
    Expression
    Biased expression in heart (RPKM 227.6), brain (RPKM 24.6) and 3 other tissues See more
    Orthologs
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    Genomic context

    See SLC25A4 in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (185143266..185150382)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (188486951..188494056)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (186064420..186071536)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185939475-185940053 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:185940054-185940633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185941348-185942275 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:185942276-185943202 Neighboring gene helt bHLH transcription factor Neighboring gene long intergenic non-protein coding RNA 2436 Neighboring gene uncharacterized LOC105377588 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186030634-186031272 Neighboring gene Sharpr-MPRA regulatory region 4736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186049861-186050404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15847 Neighboring gene cilia and flagella associated protein 97 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:186125066-186125237 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22249 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15849 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22250 Neighboring gene sorting nexin 25 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186160877-186161869 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:186161870-186162861 Neighboring gene NANOG hESC enhancer GRCh37_chr4:186187032-186187533 Neighboring gene Sharpr-MPRA regulatory region 940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:186223282-186223782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22252 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22253 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186227325-186227825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22255 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22256 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:186239748-186240413 Neighboring gene uncharacterized LOC124900827 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22257

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP:ADP antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables adenine transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables oxidative phosphorylation uncoupler activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proton transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrial membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of mitochondrial permeability transition pore complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    ADP/ATP translocase 1
    Names
    ADP,ATP carrier protein 1
    ADP,ATP carrier protein, heart/skeletal muscle
    ADP/ATP carrier 1
    adenine nucleotide translocator 1 (skeletal muscle)
    heart/skeletal muscle ATP/ADP translocator
    progressive external ophthalmoplegia 2
    progressive external ophthalmoplegia 3
    solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5004..12120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_441

    mRNA and Protein(s)

    1. NM_001151.4NP_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
      D3DP59, P12235
      UniProtKB/TrEMBL
      A0A0S2Z3H3, A8K787
      Related
      ENSP00000281456.5, ENST00000281456.11
      Conserved Domains (1) summary
      PTZ00169
      Location:7298
      PTZ00169; ADP/ATP transporter on adenylate translocase; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      185143266..185150382
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      188486951..188494056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)