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

Gene ID: 291, updated on 11-Sep-2019

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
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

Genomic context

See SLC25A4 in Genome Data Viewer
Location:
4q35.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (185143266..185150382)
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 helt bHLH transcription factor Neighboring gene long intergenic non-protein coding RNA 2436 Neighboring gene uncharacterized LOC105377588 Neighboring gene cilia and flagella associated protein 97 Neighboring gene sorting nexin 25 Neighboring gene uncharacterized LOC107986206 Neighboring gene LRP2 binding protein

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 BioSystems

  • 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...
  • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
    Sudden Infant Death Syndrome (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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP:ADP antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
adenine transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
ADP transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATP transport IEA
Inferred from Electronic Annotation
more info
 
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
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of mitochondrial membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion HDA PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

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
    P12235
    UniProtKB/TrEMBL
    A0A0S2Z3H3
    Related
    ENSP00000281456.5, ENST00000281456.11
    Conserved Domains (1) summary
    cl28162
    Location:7298
    Mito_carr; Mitochondrial carrier protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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