Details for: SLC25A4

Gene ID: 291

Symbol: SLC25A4

Ensembl ID: ENSG00000151729

Description: solute carrier family 25 member 4

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 4.3
    Marker Score: 96169
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.29
    Marker Score: 3971
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 3.05
    Marker Score: 1004
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 2.89
    Marker Score: 5868
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 2.85
    Marker Score: 2691
  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.57
    Marker Score: 4489
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.56
    Marker Score: 9101.5
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.55
    Marker Score: 6826
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 2.31
    Marker Score: 3836
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 2.17
    Marker Score: 3010.5
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 2.03
    Marker Score: 3267
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 1.93
    Marker Score: 732
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.93
    Marker Score: 575
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.89
    Marker Score: 11221
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.87
    Marker Score: 12185
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.84
    Marker Score: 15986
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.8
    Marker Score: 1912
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.77
    Marker Score: 1988
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.77
    Marker Score: 5050
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.77
    Marker Score: 4033
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.77
    Marker Score: 6542
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 1.72
    Marker Score: 917.5
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.62
    Marker Score: 602
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.61
    Marker Score: 541
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.61
    Marker Score: 795
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.61
    Marker Score: 2308
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.6
    Marker Score: 3762
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.59
    Marker Score: 55006
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 1.58
    Marker Score: 2518
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.58
    Marker Score: 3475
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.52
    Marker Score: 3837
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 1.52
    Marker Score: 430
  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 1.5
    Marker Score: 624
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 1.48
    Marker Score: 474
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.48
    Marker Score: 2804
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.46
    Marker Score: 963
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.45
    Marker Score: 19283
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.43
    Marker Score: 335
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.4
    Marker Score: 2061
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.38
    Marker Score: 758
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.37
    Marker Score: 2856
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.35
    Marker Score: 903
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.35
    Marker Score: 5288
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.33
    Marker Score: 3254
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 1.33
    Marker Score: 557
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.33
    Marker Score: 631
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.32
    Marker Score: 1644
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.31
    Marker Score: 530
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.31
    Marker Score: 4499
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.31
    Marker Score: 1382
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.31
    Marker Score: 1324
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 1.3
    Marker Score: 2138.5
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.3
    Marker Score: 1354
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.28
    Marker Score: 1815
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.28
    Marker Score: 1705
  • Cell Name: type I pneumocyte (CL0002062)
    Fold Change: 1.28
    Marker Score: 1538
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.27
    Marker Score: 614.5
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.27
    Marker Score: 2386
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.26
    Marker Score: 588
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.25
    Marker Score: 367
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.25
    Marker Score: 653
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.25
    Marker Score: 19511
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.24
    Marker Score: 5940
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.24
    Marker Score: 2938
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 1.23
    Marker Score: 1098
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.21
    Marker Score: 2152
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.21
    Marker Score: 348
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.17
    Marker Score: 835
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.17
    Marker Score: 1116
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.17
    Marker Score: 12059
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.14
    Marker Score: 10048
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.14
    Marker Score: 4054.5
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 1.14
    Marker Score: 512
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 1.14
    Marker Score: 366
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.13
    Marker Score: 532
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.12
    Marker Score: 1726
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.11
    Marker Score: 1889
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 1.11
    Marker Score: 5822
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 1.1
    Marker Score: 655
  • Cell Name: serous secreting cell (CL0000313)
    Fold Change: 1.1
    Marker Score: 440
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.1
    Marker Score: 3442.5
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.09
    Marker Score: 5347
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 1.08
    Marker Score: 848
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.08
    Marker Score: 9298
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.08
    Marker Score: 1015
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.08
    Marker Score: 8011
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 1.07
    Marker Score: 656
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.07
    Marker Score: 240
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 1.06
    Marker Score: 364
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.04
    Marker Score: 2824
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.04
    Marker Score: 251643
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.03
    Marker Score: 432
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.03
    Marker Score: 10325
  • Cell Name: parietal cell (CL0000162)
    Fold Change: 1.02
    Marker Score: 285
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.02
    Marker Score: 1936.5
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 1.02
    Marker Score: 562
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.01
    Marker Score: 1011
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.01
    Marker Score: 1067
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 1.01
    Marker Score: 500
  • Cell Name: club cell (CL0000158)
    Fold Change: 1.01
    Marker Score: 1178

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Other Information

**Key characteristics:** * The protein is a transmembrane protein with a molecular weight of approximately 120 kDa. * It is a member of the SLC25 family of solute carriers, which are involved in the transport of various molecules, including ions, molecules, and proteins. * It is expressed in a variety of cell types, including cardiac myocytes, neurons, and stem cells. * It is a key regulator of mitochondrial function, and its expression is often upregulated in conditions such as heart failure. **Pathways and functions:** * The protein is involved in a variety of cellular processes, including mitochondrial function, cell migration, and apoptosis. * It is a key regulator of mitochondrial function, and its expression is often upregulated in conditions such as heart failure. * It is also involved in cell migration and apoptosis. **Clinical significance:** * Mutations in the SLC25A4 gene have been linked to a number of human diseases, including heart failure, stroke, and cancer. * The protein is a potential therapeutic target for these diseases, as it is often overexpressed in cancer cells. * Targeting the SLC25A4 gene has been shown to be effective in inhibiting cancer growth and metastasis. **Additional information:** * The SLC25A4 gene is located on chromosome 17q21. * It is a highly conserved protein, with a similar gene found in mammals, birds, and fish. * It is a member of the SLC25 family of solute carriers, which are involved in the transport of various molecules, including ions, molecules, and proteins.

Genular Protein ID: 1230512303

Symbol: ADT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P12235 D3DP59

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 6 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 7 DrugCentral 1 EMBL 48 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 MoonProt 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 4 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.