APRT | ENSG00000198931 | NCBI 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)

Other Information

Proteins

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

The gene details are incomplete or unavailable at the moment.

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.

Details for: APRT

Associated with

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