This HTML5 document contains 165 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Subject Item

dbr:Adenine_phosphoribosyltransferase

owl:sameAs

dbpedia-es:Adenina_fosforribosiltransferasa

Subject Item

dbpedia-es:Adenina_fosforribosiltransferasa

rdf:type

dbo:Protein wikidata:Q206229 owl:Thing wikidata:Q8054 dbo:Biomolecule

rdfs:label

Adenina fosforribosiltransferasa

rdfs:comment

La adenina fosforribosiltransferasa, también conocida como APRT, es una enzima codificada en el cromosoma 16 humano,​ involucrada en la biosíntesis de purinas mediante la ruta de . Su función es catalizar la reacción entre la adenina y el fosforribosil pirofosfato (PRPP) para formar AMP. La APRT posee el EC 2.4.2.7. La APRT se encuentra funcionalmente relacionada con la (HPRT).

owl:sameAs

n6:093d4f

dct:subject

category-es:Genes_del_cromosoma_16 category-es:Proteínas_humanas

foaf:isPrimaryTopicOf

wikipedia-es:Adenina_fosforribosiltransferasa

prop-es:autor

Mimori A, Hidaka Y, Wu VC, et al. Broderick TP, Schaff DA, Bertino AM, et al. Kamatani N, Kuroshima S, Terai C, et al. Hidaka Y, Tarlé SA, Fujimori S, et al. Hidaka Y, Palella TD, O'Toole TE, et al. Wilson JM, O'Toole TE, Argos P, et al. Kamatani N, Hakoda M, Otsuka S, et al. Chen J, Sahota A, Laxdal T, et al. Johnson LA, Gordon RB, Emmerson BT Ludwig H, Kuzmits R, Pietschmann H, Müller MM Takeuchi H, Kaneko Y, Fujita J, Yoshida O Hidaka Y, Tarlé SA, O'Toole TE, et al. Gathof BS, Sahota A, Gresser U, et al. Sahota A, Chen J, Boyadjiev SA, et al. Chen J, Sahota A, Stambrook PJ, Tischfield JA Tischfield JA, Engle SJ, Gupta PK, et al. Chen J, Sahota A, Martin GF, et al. Kamatani N, Kuroshima S, Hakoda M, et al.

prop-es:año

1977 1980 1994 1995 1992 1993 1986 1987 1990 1991 1988 1989

prop-es:banda

243

prop-es:brazo

q

prop-es:caption

Diagrama de cintas de un dímero de APRT humana unida a PRPP, a adenina y a ribosa 5-fosfato. En verde se puede apreciar un ion magnesio. Disponible en PDB 1ZN7.

prop-es:cromosoma

16

prop-es:ecnumber

2427

prop-es:entrezgene

353

prop-es:número

29 24 21 10 4 5 6 1 2 3

prop-es:omim

102600

prop-es:pmid

1746557 7915931 869896 2227951 3531209 8455250 3680503 3554238 1353080 2502918 3343350 3684585 7685481 2135300 7660991 2067530 1985452 116697

prop-es:páginas

600 1152 309 217 1409 13677 325 1306 103 3349 661 9086 130 265 169 945 824 817

prop-es:refseq

NP_000476

prop-es:revista

Biochem. Genet. Hum. Genet. Klin. Wochenschr. Nucleic Acids Res. Proc. Natl. Acad. Sci. U.S.A. J. Biol. Chem. Adv. Exp. Med. Biol. Blut Hum. Mol. Genet. Mutat. Res. J. Clin. Invest. Am. J. Hum. Genet. J. Urol.

prop-es:símbolo

APRT; AMP; DKFZp686D13177; MGC125856; MGC125857; MGC129961

prop-es:título

Germline and somatic mutation at the APRT locus of mice and man. Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population. Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase deficiency by sequence-specific protein cleavage. Identification of a single missense mutation in the adenine phosphoribosyltransferase gene from five Icelandic patients and a British patient. Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. Nucleotide sequence of the human APRT gene. Identification of a splice mutation at the adenine phosphoribosyltransferase locus in a German family. Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: mutational hot spots at the intron 4 splice donor site and at codon 87. Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. Enzymes of the purine interconversion system in chronic lymphatic leukemia: decreased purine nucleoside phosphorylase and adenosine deaminase activity. Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation. Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. Human adenine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme. Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase. A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.

prop-es:uniprot

P07741

prop-es:volumen

287 45 39 261 15 149 3 370 249 90 80 81 84 85 69 48 49

dbo:wikiPageID

2122342

dbo:wikiPageRevisionID

120668499

dbo:wikiPageExternalLink

n9:MB n12:1ZN7

dbo:wikiPageLength

7662

dbo:arm

q

dbo:band

24.3

dbo:chromosome

16

dbo:ecNumber

2.4.2.7

dbo:entrezgene

353

dbo:omim

102600

dbo:refseq

NP_000476

dbo:symbol

APRT; AMP; DKFZp686D13177; MGC125856; MGC125857; MGC129961

dbo:uniprot

P07741

prov:wasDerivedFrom

n17:0

dbo:abstract

La adenina fosforribosiltransferasa, también conocida como APRT, es una enzima codificada en el cromosoma 16 humano,​ involucrada en la biosíntesis de purinas mediante la ruta de . Su función es catalizar la reacción entre la adenina y el fosforribosil pirofosfato (PRPP) para formar AMP. La APRT posee el EC 2.4.2.7. La APRT se encuentra funcionalmente relacionada con la (HPRT).

Subject Item

dbpedia-es:APRT

dbo:wikiPageRedirects

dbpedia-es:Adenina_fosforribosiltransferasa

Subject Item

dbpedia-es:Aprt

dbo:wikiPageRedirects

dbpedia-es:Adenina_fosforribosiltransferasa

Subject Item

wikipedia-es:Adenina_fosforribosiltransferasa

foaf:primaryTopic

dbpedia-es:Adenina_fosforribosiltransferasa