Gene APRT - ENSG00000198931 | NCBI Gene ID: 353

Details for: APRT

Gene ID: 353

Symbol: APRT

Ensembl ID: ENSG00000198931

Description: adenine phosphoribosyltransferase

Associated with

Defective aprt disrupts adenine salvage
(R-HSA-9734195)
Disease
(R-HSA-1643685)
Diseases of metabolism
(R-HSA-5668914)
Diseases of nucleotide metabolism
(R-HSA-9735804)
Immune system
(R-HSA-168256)
Innate immune system
(R-HSA-168249)
Metabolism
(R-HSA-1430728)
Metabolism of nucleotides
(R-HSA-15869)
Neutrophil degranulation
(R-HSA-6798695)
Nucleotide salvage
(R-HSA-8956321)
Nucleotide salvage defects
(R-HSA-9734207)
Purine salvage
(R-HSA-74217)
Adenine binding
(GO:0002055)
Adenine phosphoribosyltransferase activity
(GO:0003999)
Adenine salvage
(GO:0006168)
Amp binding
(GO:0016208)
Amp salvage
(GO:0044209)
Cytoplasm
(GO:0005737)
Cytosol
(GO:0005829)
Extracellular exosome
(GO:0070062)
Extracellular region
(GO:0005576)
Gmp salvage
(GO:0032263)
Grooming behavior
(GO:0007625)
Imp salvage
(GO:0032264)
Nucleoplasm
(GO:0005654)
Protein binding
(GO:0005515)
Purine ribonucleoside salvage
(GO:0006166)
Secretory granule lumen
(GO:0034774)

Cells (max top 100)

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

Cell Name: mature T cell (CL0002419)
Fold Change: 3.47
Marker Score: 34321
Cell Name: blood cell (CL0000081)
Fold Change: 3.25
Marker Score: 37791
Cell Name: T-helper 22 cell (CL0001042)
Fold Change: 3.21
Marker Score: 13747
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 3.12
Marker Score: 165081
Cell Name: stratified epithelial cell (CL0000079)
Fold Change: 3.09
Marker Score: 24131
Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: 2.97
Marker Score: 7257.5
Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 2.93
Marker Score: 9242
Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
Fold Change: 2.89
Marker Score: 5160
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 2.89
Marker Score: 4949.5
Cell Name: cell in vitro (CL0001034)
Fold Change: 2.87
Marker Score: 99531
Cell Name: skeletal muscle satellite stem cell (CL0008011)
Fold Change: 2.86
Marker Score: 3052
Cell Name: erythroid progenitor cell (CL0000038)
Fold Change: 2.84
Marker Score: 2960
Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
Fold Change: 2.83
Marker Score: 158454
Cell Name: decidual natural killer cell, human (CL0002343)
Fold Change: 2.82
Marker Score: 7790
Cell Name: double negative T regulatory cell (CL0011024)
Fold Change: 2.8
Marker Score: 2709
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 2.79
Marker Score: 20782.5
Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
Fold Change: 2.79
Marker Score: 6793
Cell Name: DN3 thymocyte (CL0000807)
Fold Change: 2.75
Marker Score: 1376
Cell Name: mucosal invariant T cell (CL0000940)
Fold Change: 2.75
Marker Score: 2446
Cell Name: serous secreting cell (CL0000313)
Fold Change: 2.69
Marker Score: 1075
Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
Fold Change: 2.69
Marker Score: 1578
Cell Name: cord blood hematopoietic stem cell (CL2000095)
Fold Change: 2.69
Marker Score: 2031
Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 2.69
Marker Score: 6121.5
Cell Name: naive T cell (CL0000898)
Fold Change: 2.68
Marker Score: 1725
Cell Name: type I NK T cell (CL0000921)
Fold Change: 2.67
Marker Score: 2092
Cell Name: pro-T cell (CL0000827)
Fold Change: 2.67
Marker Score: 10908
Cell Name: pneumocyte (CL0000322)
Fold Change: 2.65
Marker Score: 4263
Cell Name: B-1 B cell (CL0000819)
Fold Change: 2.65
Marker Score: 4615
Cell Name: effector CD4-positive, alpha-beta T cell (CL0001044)
Fold Change: 2.64
Marker Score: 2470
Cell Name: epithelial cell of urethra (CL1000296)
Fold Change: 2.63
Marker Score: 2075
Cell Name: naive B cell (CL0000788)
Fold Change: 2.6
Marker Score: 2325
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 2.58
Marker Score: 16497
Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
Fold Change: 2.57
Marker Score: 3632
Cell Name: class switched memory B cell (CL0000972)
Fold Change: 2.56
Marker Score: 2407
Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
Fold Change: 2.55
Marker Score: 7167
Cell Name: intraepithelial lymphocyte (CL0002496)
Fold Change: 2.55
Marker Score: 2834.5
Cell Name: epithelial cell (CL0000066)
Fold Change: 2.55
Marker Score: 4056
Cell Name: type II pneumocyte (CL0002063)
Fold Change: 2.55
Marker Score: 16607
Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
Fold Change: 2.54
Marker Score: 2234
Cell Name: mucous neck cell (CL0000651)
Fold Change: 2.54
Marker Score: 5756
Cell Name: decidual cell (CL2000002)
Fold Change: 2.53
Marker Score: 10931
Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 2.53
Marker Score: 21840.5
Cell Name: lung secretory cell (CL1000272)
Fold Change: 2.53
Marker Score: 2256
Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
Fold Change: 2.53
Marker Score: 4953
Cell Name: memory regulatory T cell (CL0002678)
Fold Change: 2.51
Marker Score: 876
Cell Name: early pro-B cell (CL0002046)
Fold Change: 2.5
Marker Score: 25365.5
Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
Fold Change: 2.49
Marker Score: 4859
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 2.49
Marker Score: 8825
Cell Name: secretory cell (CL0000151)
Fold Change: 2.47
Marker Score: 4515
Cell Name: memory B cell (CL0000787)
Fold Change: 2.47
Marker Score: 1869
Cell Name: kidney collecting duct intercalated cell (CL1001432)
Fold Change: 2.47
Marker Score: 4095
Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
Fold Change: 2.46
Marker Score: 3617
Cell Name: foveolar cell of stomach (CL0002179)
Fold Change: 2.44
Marker Score: 15566
Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
Fold Change: 2.44
Marker Score: 7116
Cell Name: lung macrophage (CL1001603)
Fold Change: 2.43
Marker Score: 2782
Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
Fold Change: 2.43
Marker Score: 1759.5
Cell Name: epithelial cell of lung (CL0000082)
Fold Change: 2.4
Marker Score: 12591
Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: 2.39
Marker Score: 9214.5
Cell Name: malignant cell (CL0001064)
Fold Change: 2.39
Marker Score: 32108.5
Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
Fold Change: 2.39
Marker Score: 1725
Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
Fold Change: 2.37
Marker Score: 1998
Cell Name: myoepithelial cell of mammary gland (CL0002324)
Fold Change: 2.35
Marker Score: 11542.5
Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 2.34
Marker Score: 832
Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
Fold Change: 2.34
Marker Score: 1916
Cell Name: DN1 thymic pro-T cell (CL0000894)
Fold Change: 2.32
Marker Score: 720.5
Cell Name: CD56-positive, CD161-positive immature natural killer cell, human (CL0002338)
Fold Change: 2.32
Marker Score: 762
Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
Fold Change: 2.31
Marker Score: 1959
Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
Fold Change: 2.31
Marker Score: 1673
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 2.3
Marker Score: 8509
Cell Name: IgG-negative class switched memory B cell (CL0002117)
Fold Change: 2.29
Marker Score: 2260
Cell Name: Kupffer cell (CL0000091)
Fold Change: 2.29
Marker Score: 2292
Cell Name: natural T-regulatory cell (CL0000903)
Fold Change: 2.29
Marker Score: 1177
Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 2.28
Marker Score: 25704
Cell Name: regulatory T cell (CL0000815)
Fold Change: 2.25
Marker Score: 2491
Cell Name: T follicular helper cell (CL0002038)
Fold Change: 2.25
Marker Score: 1869
Cell Name: unswitched memory B cell (CL0000970)
Fold Change: 2.25
Marker Score: 1317
Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
Fold Change: 2.25
Marker Score: 1645
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 2.24
Marker Score: 3673
Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 2.24
Marker Score: 535
Cell Name: IgG memory B cell (CL0000979)
Fold Change: 2.24
Marker Score: 1348
Cell Name: Unknown (CL0000548)
Fold Change: 2.22
Marker Score: 1617.5
Cell Name: stem cell (CL0000034)
Fold Change: 2.22
Marker Score: 5271.5
Cell Name: bladder urothelial cell (CL1001428)
Fold Change: 2.22
Marker Score: 3266
Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
Fold Change: 2.22
Marker Score: 2249
Cell Name: transitional stage B cell (CL0000818)
Fold Change: 2.21
Marker Score: 783
Cell Name: central memory CD4-positive, alpha-beta T cell (CL0000904)
Fold Change: 2.18
Marker Score: 2353.5
Cell Name: gamma-delta T cell (CL0000798)
Fold Change: 2.18
Marker Score: 1464.5
Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 2.18
Marker Score: 74016
Cell Name: fraction A pre-pro B cell (CL0002045)
Fold Change: 2.16
Marker Score: 2179
Cell Name: alveolar macrophage (CL0000583)
Fold Change: 2.16
Marker Score: 55255
Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
Fold Change: 2.14
Marker Score: 923.5
Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: 2.14
Marker Score: 4464
Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
Fold Change: 2.13
Marker Score: 5517.5
Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: 2.12
Marker Score: 6292
Cell Name: intestine goblet cell (CL0019031)
Fold Change: 2.11
Marker Score: 2023.5
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 2.11
Marker Score: 5654
Cell Name: enterocyte (CL0000584)
Fold Change: 2.11
Marker Score: 10115
Cell Name: exhausted T cell (CL0011025)
Fold Change: 2.1
Marker Score: 1209
Cell Name: basal cell (CL0000646)
Fold Change: 2.1
Marker Score: 2705
Cell Name: CD4-positive helper T cell (CL0000492)
Fold Change: 2.09
Marker Score: 2276

Hover over a box to see details here...

**Key characteristics:** * APRT is an enzyme of the purine salvage pathway, which is responsible for the repair of damaged or destroyed purines and pyrimidines. * It is expressed in a variety of cell types, including immune cells, epithelial cells, and cancer cells. * It has multiple isoforms, each with different tissue and cellular localization. * It is a key regulator of purine metabolism and plays a role in maintaining cellular homeostasis. **Pathways and functions:** * APRT is involved in the purine salvage pathway, a two-step process that restores purines and pyrimidines that have been damaged or destroyed. * In the first step, APRT binds to damaged purines and transfers a phosphate group to an enzyme called GMP-AMP synthase, leading to the formation of GMP. * In the second step, GMP is used by another enzyme, GMP-AMP adenylyltransferase, to form guanosine monophosphate (GMP). * APRT also plays a role in DNA repair, where it can repair damaged nucleotides by transferring a phosphate group from guanosine to the 5' phosphate group of deoxyadenosine. **Clinical significance:** * Mutations in the APRT gene have been linked to several human diseases, including cancer, autoimmune disorders, and metabolic diseases. * APRT inhibitors are being investigated as potential therapeutic agents for these diseases, as they could potentially prevent or reverse the damage caused by damaged purines and pyrimidines. * By understanding the role of APRT in purine metabolism, researchers can develop new strategies to treat diseases that are caused by defects in this pathway. **Additional notes:** * APRT is a highly conserved enzyme, with a similar gene found in other vertebrates. * It is a multi-domain protein, with a catalytic domain and two other regions involved in protein-protein interactions. * APRT is a regulated protein, with its expression being controlled by various factors, including growth factors, cytokines, and genetic variants.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

APT_HUMAN

Genular Protein ID: 2889981286

Symbol: APT_HUMAN

Name: N/A

UniProtKB Accession Codes:

P07741 G5E9J2 Q3KP55 Q68DF9

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. For the full schema, download it here.

Details for: APRT

Associated with

Cells (max top 100)

Other Information

Nucleotide sequence of the human APRT gene. PubMed ID: 3684585

Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. PubMed ID: 3554238

The full-ORF clone resource of the German cDNA consortium. PubMed ID: 17974005

The sequence and analysis of duplication-rich human chromosome 16. PubMed ID: 15616553

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme. PubMed ID: 3531209

Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. PubMed ID: 12665801

Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. PubMed ID: 19413330

Large-scale proteomics analysis of the human kinome. PubMed ID: 19369195

Lysine acetylation targets protein complexes and co-regulates major cellular functions. PubMed ID: 19608861

Initial characterization of the human central proteome. PubMed ID: 21269460

Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features. PubMed ID: 22223895

N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB. PubMed ID: 22814378

Toward a comprehensive characterization of a human cancer cell phosphoproteome. PubMed ID: 23186163

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. PubMed ID: 24275569

N-terminome analysis of the human mitochondrial proteome. PubMed ID: 25944712

Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. PubMed ID: 15196008

Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient. PubMed ID: 1746557

Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. PubMed ID: 7915931

Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. PubMed ID: 3680503

Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. PubMed ID: 3343350

Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. PubMed ID: 1353080

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

Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. PubMed ID: 15571218

A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene. PubMed ID: 21635362