Sequence of PRPS1_HUMAN
EC Number:2.7.6.1
EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
Reaction
ATP + D-ribose 5-phosphate = AMP + 5-phospho-alpha-D-ribose 1-diphosphate
Other sequences found for EC No. 2.7.6.1
General information:
Sequence
0 MPNIKIFSGS SHQDLSQKIA DRLGLELGKV VTKKFSNQET CVEIGESVRG EDVYIVQSGC
60 GEINDNLMEL LIMINACKIA SASRVTAVIP CFPYARQDKK DKSRAPISAK LVANMLSVAG
120 ADHIITMDLH ASQIQGFFDI PVDNLYAEPA VLKWIRENIS EWRNCTIVSP DAGGAKRVTS
180 IADRLNVDFA LIHKERKKAN EVDRMVLVGD VKDRVAILVD DMADTCGTIC HAADKLLSAG
240 ATRVYAILTH GIFSGPAISR INNACFEAVV VTNTIPQEDK MKHCSKIQVI DISMILAEAI
300 RRTHNGESVS YLFSHVPL
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Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
337858
Roessler B.J.,Bell G.,Heidler S.,Seino S.,Becker M.,Palella T.D.
Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA.
Nucleic Acids Res.
18
193-193
1990
337859
Sonoda T.,Taira M.,Ishijima S.,Ishizuka T.,Iizaka T.,Tatibana M.
Complete nucleotide sequence of human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) cDNA and a comparison with human and rat PRPS gene families.
J. Biochem.
109
361-364
1991
337860
Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Nat. Genet.
36
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2004
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The DNA sequence of the human X chromosome.
Nature
434
325-337
2005
337863
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
Genome Res.
14
2121-2127
2004
337864
Ishizuka T.,Iizasa T.,Taira M.,Ishijima S.,Sonoda T.,Shimada H.,Nagatake N.,Tatibana M.
Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms.
Biochim. Biophys. Acta
1130
139-148
1992
337867
Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.
Initial characterization of the human central proteome.
BMC Syst. Biol.
5
17-17
2011
337868
Li S.,Lu Y.,Peng B.,Ding J.
Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site.
Biochem. J.
401
39-47
2007
337870
Becker M.A.,Smith P.R.,Taylor W.,Mustafi R.,Switzer R.L.
The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
J. Clin. Invest.
96
2133-2141
1995
337871
Sjoeblom T.,Jones S.,Wood L.D.,Parsons D.W.,Lin J.,Barber T.D.,Mandelker D.,Leary R.J.,Ptak J.,Silliman N.,Szabo S.,Buckhaults P.,Farrell C.,Meeh P.,Markowitz S.D.,Willis J.,Dawson D.,Willson J.K.V.,Gazdar A.F.,Hartigan J.,Wu L.,Liu C.,Parmigiani G.,Park B.H.,Bachman K.E.,Papadopoulos N.,Vogelstein B.,Kinzler K.W.,Velculescu V.E.
The consensus coding sequences of human breast and colorectal cancers.
Science
314
268-274
2006
337872
de Brouwer A.P.M.,Williams K.L.,Duley J.A.,van Kuilenburg A.B.P.,Nabuurs S.B.,Egmont-Petersen M.,Lugtenberg D.,Zoetekouw L.,Banning M.J.G.,Roeffen M.,Hamel B.C.J.,Weaving L.,Ouvrier R.A.,Donald J.A.,Wevers R.A.,Christodoulou J.,van Bokhoven H.
Arts syndrome is caused by loss-of-function mutations in PRPS1.
Am. J. Hum. Genet.
81
507-518
2007
337873
Kim H.-J.,Sohn K.-M.,Shy M.E.,Krajewski K.M.,Hwang M.,Park J.-H.,Jang S.-Y.,Won H.-H.,Choi B.-O.,Hong S.H.,Kim B.-J.,Suh Y.-L.,Ki C.-S.,Lee S.-Y.,Kim S.-H.,Kim J.-W.
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Am. J. Hum. Genet.
81
552-558
2007
337874
Liu X.,Han D.,Li J.,Han B.,Ouyang X.,Cheng J.,Li X.,Jin Z.,Wang Y.,Bitner-Glindzicz M.,Kong X.,Xu H.,Kantardzhieva A.,Eavey R.D.,Seidman C.E.,Seidman J.G.,Du L.L.,Chen Z.Y.,Dai P.,Teng M.,Yan D.,Yuan H.
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Am. J. Hum. Genet.
86
65-71
2010
337875
Moran R.,Kuilenburg A.B.,Duley J.,Nabuurs S.B.,Retno-Fitri A.,Christodoulou J.,Roelofsen J.,Yntema H.G.,Friedman N.R.,van Bokhoven H.,de Brouwer A.P.
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Am. J. Med. Genet. A
158A
455-460
2012
337876
Almoguera B.,He S.,Corton M.,Fernandez-San Jose P.,Blanco-Kelly F.,Lopez-Molina M.,Garcia-Sandoval B.,Del Val J.,Guo Y.,Tian L.,Liu X.,Guan L.,Torres R.J.,Puig J.G.,Hakonarson H.,Xu X.,Keating B.,Ayuso C.
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Orphanet J. Rare Dis.
9
190-190
2014
