Details for: APRT

Gene ID: 353

Symbol: APRT

Ensembl ID: ENSG00000198931

Description: adenine phosphoribosyltransferase

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: 364.7814
    Cell Significance Index: -56.7400
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 189.8542
    Cell Significance Index: -78.2100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 176.1528
    Cell Significance Index: -44.6800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 163.3262
    Cell Significance Index: -77.1100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 152.4052
    Cell Significance Index: -78.4000
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 114.8323
    Cell Significance Index: -77.0600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 56.3443
    Cell Significance Index: -69.4700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 19.6019
    Cell Significance Index: -77.3500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 18.2975
    Cell Significance Index: -56.2000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.7519
    Cell Significance Index: -25.7200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.9391
    Cell Significance Index: -15.9100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 5.1825
    Cell Significance Index: 138.6300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 4.8128
    Cell Significance Index: 44.3200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 4.4558
    Cell Significance Index: 209.4200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 4.2152
    Cell Significance Index: 196.5300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 4.0873
    Cell Significance Index: 120.0400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 3.8135
    Cell Significance Index: 88.1100
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 3.3559
    Cell Significance Index: 237.3400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 3.2773
    Cell Significance Index: 211.4400
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 3.2375
    Cell Significance Index: 27.8200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 3.2227
    Cell Significance Index: 416.3500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.0328
    Cell Significance Index: 1656.3000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.9480
    Cell Significance Index: 531.4300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.8177
    Cell Significance Index: 346.4700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 2.7965
    Cell Significance Index: 23.4900
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 2.5243
    Cell Significance Index: 15.5400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.4213
    Cell Significance Index: 65.9100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.4198
    Cell Significance Index: 27.4900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 2.3504
    Cell Significance Index: 1039.1500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.1907
    Cell Significance Index: 163.2700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.1397
    Cell Significance Index: 111.1500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.1051
    Cell Significance Index: 289.0900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.0078
    Cell Significance Index: 236.7800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.8650
    Cell Significance Index: 49.0400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.8479
    Cell Significance Index: 83.7600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 1.7045
    Cell Significance Index: 18.5300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.6598
    Cell Significance Index: 35.9600
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.9569
    Cell Significance Index: 7.6400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8618
    Cell Significance Index: 140.1700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.8608
    Cell Significance Index: 777.2800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.8408
    Cell Significance Index: 107.7900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.8097
    Cell Significance Index: 138.2600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.7845
    Cell Significance Index: 14.5000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.7249
    Cell Significance Index: 20.7800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6532
    Cell Significance Index: 129.6200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4954
    Cell Significance Index: 94.2800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4617
    Cell Significance Index: 45.6700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4412
    Cell Significance Index: 15.3300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.4135
    Cell Significance Index: 312.9800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4060
    Cell Significance Index: 10.8800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3644
    Cell Significance Index: 9.7300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.1256
    Cell Significance Index: 2.6300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0630
    Cell Significance Index: 46.1900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0450
    Cell Significance Index: 12.9400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0382
    Cell Significance Index: 0.6400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0100
    Cell Significance Index: -1.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0105
    Cell Significance Index: -7.8100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0278
    Cell Significance Index: -52.4300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0463
    Cell Significance Index: -85.4100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0557
    Cell Significance Index: -85.7000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.0608
    Cell Significance Index: -1.0800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0686
    Cell Significance Index: -93.3200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0729
    Cell Significance Index: -45.5100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0766
    Cell Significance Index: -2.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0953
    Cell Significance Index: -53.7300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1018
    Cell Significance Index: -64.6400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1305
    Cell Significance Index: -26.1800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1574
    Cell Significance Index: -5.5300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.1617
    Cell Significance Index: -58.0100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1674
    Cell Significance Index: -75.9600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1906
    Cell Significance Index: -4.8700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2445
    Cell Significance Index: -51.4900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.2983
    Cell Significance Index: -4.4700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3031
    Cell Significance Index: -34.7200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3559
    Cell Significance Index: -11.4000
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.4135
    Cell Significance Index: -5.3000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4346
    Cell Significance Index: -9.2600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.4378
    Cell Significance Index: -51.0200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.4498
    Cell Significance Index: -65.3800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5144
    Cell Significance Index: -40.7400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.5282
    Cell Significance Index: -31.7100
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.5644
    Cell Significance Index: -3.4100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.6116
    Cell Significance Index: -69.8100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.6201
    Cell Significance Index: -32.5600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.6318
    Cell Significance Index: -8.6200
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.7147
    Cell Significance Index: -12.3200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.7361
    Cell Significance Index: -76.6500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.8448
    Cell Significance Index: -42.6900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.9549
    Cell Significance Index: -9.8900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.9594
    Cell Significance Index: -60.4700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.9660
    Cell Significance Index: -74.1300
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.9863
    Cell Significance Index: -40.4100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0878
    Cell Significance Index: -66.6900
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.1066
    Cell Significance Index: -74.4100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -1.1333
    Cell Significance Index: -69.6600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.1776
    Cell Significance Index: -66.0800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.4711
    Cell Significance Index: -43.3300
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: -1.5552
    Cell Significance Index: -8.4800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.6977
    Cell Significance Index: -48.9200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.7600
    Cell Significance Index: -77.8500

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** APRT is a cytosolic enzyme that catalyzes the transfer of a phosphate group from phosphoribosyl pyrophosphate to adenine, generating AMP (adenosine monophosphate) and pyrophosphate. This reaction is a key step in the adenine salvage pathway, which allows cells to recycle adenine from nucleic acid degradation, thereby conserving this essential nucleotide. APRT is also involved in the regulation of purine metabolism, as it can participate in the salvage of other purine nucleotides, such as guanine. **Pathways and Functions** The adenine salvage pathway, in which APRT plays a central role, is a critical mechanism for maintaining cellular nucleotide homeostasis. This pathway involves the following steps: 1. Adenine is released from nucleic acid degradation and enters the cytosol. 2. APRT catalyzes the transfer of a phosphate group from phosphoribosyl pyrophosphate to adenine, generating AMP and pyrophosphate. 3. AMP is then converted to IMP (inosine monophosphate) through a series of reactions involving IMP dehydrogenase and other enzymes. 4. IMP is further converted to GMP (guanosine monophosphate) and AMP through the action of IMP dehydrogenase and guanylate cyclase, respectively. APRT also participates in other pathways, including: 1. Adenine binding: APRT binds to adenine, facilitating its transfer to phosphoribosyl pyrophosphate. 2. Purine salvage: APRT can participate in the salvage of other purine nucleotides, such as guanine. 3. Immune system regulation: APRT is expressed in immune cells, where it plays a role in regulating immune response and maintaining nucleotide homeostasis. **Clinical Significance** Dysregulation of the adenine salvage pathway, particularly APRT, has been implicated in various diseases, including: 1. **Aprt deficiency**: A rare genetic disorder characterized by impaired adenine salvage, leading to severe immunodeficiency and other systemic complications. 2. **Cancer**: The adenine salvage pathway is often dysregulated in cancer cells, where it can contribute to tumor growth and progression. 3. **Autoimmune diseases**: APRT has been implicated in the pathogenesis of autoimmune diseases, such as rheumatoid arthritis, where it may contribute to the dysregulation of immune responses. In conclusion, APRT is a critical gene involved in the adenine salvage pathway, which plays a vital role in maintaining cellular homeostasis and regulating immune response. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms of APRT and its clinical significance.

Genular Protein ID: 2889981286

Symbol: APT_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3684585

Title: Nucleotide sequence of the human APRT gene.

PubMed ID: 3684585

DOI: 10.1093/nar/15.21.9086

PubMed ID: 3554238

Title: Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement.

PubMed ID: 3554238

DOI: 10.1073/pnas.84.10.3349

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

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: 3531209

Title: Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.

PubMed ID: 3531209

DOI: 10.1016/s0021-9258(18)67074-7

PubMed ID: 12665801

Title: Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.

PubMed ID: 12665801

DOI: 10.1038/nbt810

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

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: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 15196008

Title: Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis.

PubMed ID: 15196008

DOI: 10.1021/bi0360758

PubMed ID: 1746557

Title: Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient.

PubMed ID: 1746557

PubMed ID: 7915931

Title: Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis.

PubMed ID: 7915931

DOI: 10.1093/hmg/3.5.817

PubMed ID: 3680503

Title: Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.

PubMed ID: 3680503

DOI: 10.1172/jci113219

PubMed ID: 3343350

Title: Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.

PubMed ID: 3343350

DOI: 10.1172/jci113408

PubMed ID: 1353080

Title: Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.

PubMed ID: 1353080

DOI: 10.1172/jci115825

PubMed ID: 11243733

Title: 2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT.

PubMed ID: 11243733

DOI: 10.1006/mgme.2000.3142

PubMed ID: 15571218

Title: Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis.

PubMed ID: 15571218

DOI: 10.1081/ncn-200027393

PubMed ID: 21635362

Title: A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.

PubMed ID: 21635362

DOI: 10.1111/j.1651-2227.2011.02371.x

Sequence Information:

  • Length: 180
  • Mass: 19608
  • Checksum: CDC7703337A6E453
  • Sequence:
  • MADSELQLVE QRIRSFPDFP TPGVVFRDIS PVLKDPASFR AAIGLLARHL KATHGGRIDY 
    IAGLDSRGFL FGPSLAQELG LGCVLIRKRG KLPGPTLWAS YSLEYGKAEL EIQKDALEPG 
    QRVVVVDDLL ATGGTMNAAC ELLGRLQAEV LECVSLVELT SLKGREKLAP VPFFSLLQYE

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.