PRPS1 Proteine (PRPS1)

Bezeichnung:: phosphoribosyl Pyrophosphate Synthetase 1 Proteine (PRPS1)

Auf www.antikoerper-online.de finden Sie aktuell 15 phosphoribosyl Pyrophosphate Synthetase 1 (PRPS1) Proteine von 9 unterschiedlichen Herstellern. Zusätzlich bieten wir Ihnen PRPS1 Antikörper (44) und PRPS1 Kits (6) und viele weitere Produktgruppen zu diesem Protein an. Insgesamt sind aktuell 65 PRPS1 Produkte verfügbar.

Synonyme:: 2310010D17Rik, arts, C76571, C76678, cb96, cmtx5, DFN2, DFNX1, ppribp, Prps-1, prps1, PRS-I, prsi, wu:fa18f03, wu:fb33h12, wu:fd26g08, zgc:55299, zgc:76932

alle Proteine anzeigen	Gen	GeneID	UniProt
	PRPS1	5631	P60891
	PRPS1	19139	Q9D7G0
	PRPS1	29562	P60892
Weitere Synonyme anzeigen

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Verknüpfte Pathways mit PRPS1 Proteine

Ribonucleoside Biosynthetic Process

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Human phosphoribosyl Pyrophosphate Synthetase 1 (PRPS1) Interaktionspartner

suggests that the four mutations might affect the PRPS1 protein function and stability of the structure
This report highlights the unexpected finding of retinal degeneration in females caused by missense variants in the X-linked gene PRPS1 and expands our understanding of the phenotypic outcome of specific variants.
ARTS binds directly to both XIAP and Bcl-2. ARTS functions as a distinct Bcl-2 antagonist by binding and leading to its degradation.
A novel PRPS1 mutation related to early-onset progressive nonsyndromic hearing loss.
High PRPS1 expression is associated with chemoresistance in breast cancer.
evaluation of current literature on PRPS1-related syndromes and summaries of potential therapies [review]
analysis of intrafamilial phenotypic variation associated with a single PRPS1 mutation in syndromic or nonsyndromic hearing impairment
CRC cells that overexpressed miR124 or with knockdown of RPIA or PRPS1 had reduced DNA synthesis and proliferation, whereas cells incubated with an inhibitor of miR124 had significantly increased DNA synthesis and proliferation and formed more colonies.
Study identified the critical region in the ARTS promoter and demonstrated that the Sp1 transcription factor could regulate the activity of the ARTS promoter through multiple Sp1 binding sites.
Females with a missense mutation in PRPS1, exhibit neuropathy, hearing loss and retinopathy.
the de novo purine synthesis inhibitor lometrexol effectively abrogated PRPS1 mutant-driven drug resistance.
The expression of different genes encoding subunits of PRPS enzyme is affected by hypoxia in tumor glioma cells, but the effect of hypoxia is modified by suppression of endoplasmic reticulum stress signaling enzyme ERN1.
respective phenotypic presentation seems to be determined by the exact PRPS1 mutation and the residual enzyme activity, the latter being largely influenced by the degree of skewed X-inactivation
The crystal structure of the ADP-binding pocket of the PRPS1 D52H-mutant and evidence of reduced inhibitor sensitivity.
Review: discuss role of PRPS1 mutations in hearing loss.
missense mutations in PRPS1 can cause a continuous spectrum of features ranging from progressive non-syndromic postlingual hearing impairment to uric acid overproduction, and recurrent infections depending on the functional sites that are affected
Translocation of ARTS initiates a first wave of caspase activation leading to the subsequent release of additional mitochondrial factors, including cytochrome C and SMAC/Diablo.
Three HPRT1 mutations in Lesch-Nyhan families were identified but no mutation was identified in any patient in the analysis of PRPS1.
Refinements were made on the DFN2 locus on the X chromosome.
In four hyperuricemic patients with mild neurological abnormality, molecular analysis of PRPS1 was performed , but no mutations in PRPP synthetase were found.

Zebrafish phosphoribosyl Pyrophosphate Synthetase 1 (PRPS1) Interaktionspartner

mutations in PRPS1 result in phenotypic deficiencies in zebrafish similar to those in the associated human diseases.

PRPS1 Protein Überblick

Protein Überblick

This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene.

Alternative names and synonyms associated with PRPS1

phosphoribosyl pyrophosphate synthetase 1 (PRPS1)
phosphoribosyl pyrophosphate synthetase 1 (Prps1)
phosphoribosyl pyrophosphate synthetase 1A (prps1a)
phosphoribosyl pyrophosphate synthetase 1 L homeolog (prps1.L)

2310010D17Rik Protein
arts Protein
C76571 Protein
C76678 Protein
cb96 Protein
cmtx5 Protein
DFN2 Protein
DFNX1 Protein
ppribp Protein
Prps-1 Protein
prps1 Protein
PRS-I Protein
prsi Protein
wu:fa18f03 Protein
wu:fb33h12 Protein
wu:fd26g08 Protein
zgc:55299 Protein
zgc:76932 Protein

Bezeichner auf Proteinebene für PRPS1

dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1) , deafness 2, perceptive, congenital , deafness, X-linked 2, perceptive, congenital , phosphoribosyl pyrophosphate synthase I , ribose-phosphate diphosphokinase 1 , ribose-phosphate pyrophosphokinase 1 , phosphoribosyl pyrophosphate synthetase I , PRS-I , phosphoribosyl pyrophosphate synthetase 1 L homeolog

GENE ID	SPEZIES
5631	Homo sapiens
19139	Mus musculus
29562	Rattus norvegicus
781227	Bos taurus
140620	Danio rerio
399237	Xenopus laevis

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