Details for: SLC25A4

Gene ID: 291

Symbol: SLC25A4

Ensembl ID: ENSG00000151729

Description: solute carrier family 25 member 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 329.0040
    Cell Significance Index: -51.1800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 201.3063
    Cell Significance Index: -51.0600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 104.7080
    Cell Significance Index: -49.4400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 96.8106
    Cell Significance Index: -39.3300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 73.6712
    Cell Significance Index: -49.4400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 41.8280
    Cell Significance Index: -39.9400
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 41.6641
    Cell Significance Index: -51.3700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.2107
    Cell Significance Index: -46.1100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 13.1296
    Cell Significance Index: -51.8100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 5.7720
    Cell Significance Index: 44.4900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 5.6375
    Cell Significance Index: 83.2300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.9566
    Cell Significance Index: 260.2400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 4.3444
    Cell Significance Index: 106.0000
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 3.1763
    Cell Significance Index: 51.2500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.5775
    Cell Significance Index: 197.8000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.5129
    Cell Significance Index: 68.4000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 2.0242
    Cell Significance Index: 121.5200
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 1.7550
    Cell Significance Index: 6.7200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.6358
    Cell Significance Index: 103.1000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.5400
    Cell Significance Index: 71.8000
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.1520
    Cell Significance Index: 12.2400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.1011
    Cell Significance Index: 601.3600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.0763
    Cell Significance Index: 175.0500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0385
    Cell Significance Index: 127.6900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9988
    Cell Significance Index: 200.3500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.8116
    Cell Significance Index: 42.2800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.8047
    Cell Significance Index: 145.0600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.7879
    Cell Significance Index: 62.4000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6817
    Cell Significance Index: 615.5400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5742
    Cell Significance Index: 12.4400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.5700
    Cell Significance Index: 417.8900
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 0.5339
    Cell Significance Index: 1.5300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.4413
    Cell Significance Index: 195.0900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3997
    Cell Significance Index: 143.3800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3813
    Cell Significance Index: 8.8100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3656
    Cell Significance Index: 25.2900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3482
    Cell Significance Index: 44.9800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3272
    Cell Significance Index: 11.3700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.3063
    Cell Significance Index: 21.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2940
    Cell Significance Index: 15.2700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2891
    Cell Significance Index: 49.3600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.2888
    Cell Significance Index: 13.5800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2556
    Cell Significance Index: 48.6400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.2240
    Cell Significance Index: 26.4200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2113
    Cell Significance Index: 15.7500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1793
    Cell Significance Index: 22.9800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1477
    Cell Significance Index: 9.0800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.1311
    Cell Significance Index: 99.2200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1148
    Cell Significance Index: 5.2100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1025
    Cell Significance Index: 3.6000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0741
    Cell Significance Index: 1.2700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0388
    Cell Significance Index: 17.6100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0364
    Cell Significance Index: 68.6100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0075
    Cell Significance Index: -11.5200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0127
    Cell Significance Index: -9.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0148
    Cell Significance Index: -9.3700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0174
    Cell Significance Index: -32.0300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0188
    Cell Significance Index: -25.5500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0238
    Cell Significance Index: -14.8900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0289
    Cell Significance Index: -19.9800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0402
    Cell Significance Index: -7.9800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.0404
    Cell Significance Index: -4.0000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0503
    Cell Significance Index: -28.3600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0577
    Cell Significance Index: -7.9300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0791
    Cell Significance Index: -8.0900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0813
    Cell Significance Index: -17.1200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.0814
    Cell Significance Index: -0.9700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0922
    Cell Significance Index: -2.3700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1261
    Cell Significance Index: -2.6400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1345
    Cell Significance Index: -15.4100
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1419
    Cell Significance Index: -40.8300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1431
    Cell Significance Index: -3.8200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1438
    Cell Significance Index: -16.4100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1522
    Cell Significance Index: -17.7400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1925
    Cell Significance Index: -5.3800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2065
    Cell Significance Index: -30.0200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2252
    Cell Significance Index: -15.1500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2648
    Cell Significance Index: -8.4800
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.3589
    Cell Significance Index: -3.3100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.3798
    Cell Significance Index: -3.1900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4287
    Cell Significance Index: -44.6400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.4354
    Cell Significance Index: -5.4000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4816
    Cell Significance Index: -27.0300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.5047
    Cell Significance Index: -13.2700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5555
    Cell Significance Index: -11.8300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5557
    Cell Significance Index: -35.8500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.5705
    Cell Significance Index: -4.5600
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: -0.6573
    Cell Significance Index: -5.7900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.6627
    Cell Significance Index: -40.6300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6629
    Cell Significance Index: -29.3200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.7434
    Cell Significance Index: -21.2200
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.7643
    Cell Significance Index: -9.8000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.8276
    Cell Significance Index: -31.3400
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.8989
    Cell Significance Index: -15.8900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.9061
    Cell Significance Index: -21.7300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -1.0054
    Cell Significance Index: -10.9300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.0155
    Cell Significance Index: -37.2800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.0291
    Cell Significance Index: -29.5000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.0582
    Cell Significance Index: -34.6500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.0595
    Cell Significance Index: -30.5300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Mitochondrial function:** SLC25A4 is primarily localized to the mitochondrial inner membrane, where it regulates the transport of ADP and ATP across the membrane. 2. **Expression profile:** The gene is highly expressed in cardiac myocytes, neurons, and kidney cells, highlighting its importance in regulating energy metabolism and maintaining cellular homeostasis. 3. **Adenine transport:** SLC25A4 has been shown to facilitate the transport of adenine, a key energy source, across cellular membranes. 4. **Apoptosis regulation:** The gene plays a critical role in regulating apoptosis, particularly in the context of mitochondrial outer membrane permeabilization. **Pathways and Functions:** 1. **Adaptive thermogenesis:** SLC25A4 is involved in regulating energy metabolism, particularly in the context of adaptive thermogenesis, where it helps to maintain energy homeostasis during cold exposure. 2. **Apoptotic signaling pathway:** The gene regulates apoptosis by inhibiting mitochondrial outer membrane permeabilization, a key event in the apoptotic process. 3. **Mitochondrial genome maintenance:** SLC25A4 helps to maintain mitochondrial genome stability by regulating the transport of ADP and ATP across the mitochondrial inner membrane. 4. **Energy metabolism:** The gene plays a critical role in regulating energy metabolism, particularly in the context of ATP production and utilization. **Clinical Significance:** 1. **Heart disease:** SLC25A4 has been implicated in the pathogenesis of heart disease, particularly in the context of cardiac hypertrophy and cardiac arrhythmias. 2. **Neurodegenerative diseases:** The gene has been linked to neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, where it plays a role in regulating energy metabolism and maintaining neuronal homeostasis. 3. **Cancer:** SLC25A4 has been implicated in cancer development and progression, particularly in the context of energy metabolism and mitochondrial function. 4. **Infectious diseases:** The gene has been shown to play a role in regulating the host response to viral infections, particularly in the context of HIV-1 infection. In conclusion, SLC25A4 is a critical gene involved in regulating mitochondrial function, energy metabolism, and cellular homeostasis. Its dysregulation has been implicated in various diseases, including heart disease, neurodegenerative diseases, cancer, and infectious diseases. Further research is needed to fully elucidate the functional significance of SLC25A4 and its role in maintaining human health.

Genular Protein ID: 1230512303

Symbol: ADT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2823266

Title: cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes.

PubMed ID: 2823266

DOI: 10.1073/pnas.84.21.7580

PubMed ID: 2541251

Title: DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase.

PubMed ID: 2541251

DOI: 10.1016/0022-2836(89)90477-4

PubMed ID: 2547778

Title: A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed.

PubMed ID: 2547778

DOI: 10.1016/s0021-9258(18)71632-3

PubMed ID: 20843780

Title: Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.

PubMed ID: 20843780

DOI: 10.1093/nar/gkq750

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2829183

Title: Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver.

PubMed ID: 2829183

DOI: 10.1073/pnas.85.2.377

PubMed ID: 16120388

Title: Mitochondrial membrane permeabilization by HIV-1 Vpr.

PubMed ID: 16120388

DOI: 10.1016/j.mito.2004.06.012

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21586654

Title: adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria.

PubMed ID: 21586654

DOI: 10.1093/hmg/ddr200

PubMed ID: 22187496

Title: Complete loss of expression of the ANT1 gene causing cardiomyopathy and myopathy.

PubMed ID: 22187496

DOI: 10.1136/jmedgenet-2011-100504

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27693233

Title: Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number.

PubMed ID: 27693233

DOI: 10.1016/j.ajhg.2016.08.014

PubMed ID: 27641616

Title: TSPO ligands stimulate ZnPPIX transport and ROS accumulation leading to the inhibition of P. falciparum growth in human blood.

PubMed ID: 27641616

DOI: 10.1038/srep33516

PubMed ID: 31883789

Title: Human-specific ARHGAP11B acts in mitochondria to expand neocortical progenitors by glutaminolysis.

PubMed ID: 31883789

DOI: 10.1016/j.neuron.2019.11.027

PubMed ID: 10926541

Title: Role of adenine nucleotide translocator 1 in mtDNA maintenance.

PubMed ID: 10926541

DOI: 10.1126/science.289.5480.782

PubMed ID: 11756613

Title: A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family.

PubMed ID: 11756613

DOI: 10.1212/wnl.57.12.2295

PubMed ID: 12112115

Title: A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.

PubMed ID: 12112115

DOI: 10.1002/ana.10172

PubMed ID: 12707443

Title: Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).

PubMed ID: 12707443

DOI: 10.1212/01.wnl.0000056088.09408.3c

PubMed ID: 16155110

Title: Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

PubMed ID: 16155110

DOI: 10.1093/hmg/ddi341

PubMed ID: 15792871

Title: A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.

PubMed ID: 15792871

DOI: 10.1016/j.nmd.2004.12.004

PubMed ID: 18575922

Title: Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia.

PubMed ID: 18575922

DOI: 10.1007/s00415-008-0926-3

PubMed ID: 25732997

Title: Two novel mutations in the SLC25A4 gene in a patient with mitochondrial myopathy.

PubMed ID: 25732997

DOI: 10.1007/8904_2015_409

Sequence Information:

  • Length: 298
  • Mass: 33064
  • Checksum: 59F0DFAEC4E7CFBB
  • Sequence:
  • MGDHAWSFLK DFLAGGVAAA VSKTAVAPIE RVKLLLQVQH ASKQISAEKQ YKGIIDCVVR 
    IPKEQGFLSF WRGNLANVIR YFPTQALNFA FKDKYKQLFL GGVDRHKQFW RYFAGNLASG 
    GAAGATSLCF VYPLDFARTR LAADVGKGAA QREFHGLGDC IIKIFKSDGL RGLYQGFNVS 
    VQGIIIYRAA YFGVYDTAKG MLPDPKNVHI FVSWMIAQSV TAVAGLVSYP FDTVRRRMMM 
    QSGRKGADIM YTGTVDCWRK IAKDEGAKAF FKGAWSNVLR GMGGAFVLVL YDEIKKYV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.