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FLASH GENE

Symbol

PRPS1

contributors: mct/npt/pgu - updated : 03-09-2019

HGNC name	phosphoribosyl pyrophosphate synthetase 1
HGNC id	9462

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	22.60 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_002764 7 - 2156 NP_002755 - 318 - 1991 1650777 NM_001204402 4 - 1748 NP_001191331 - 114 - 1991 1650777

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly Hearing/Equilibrium ear inner       Lymphoid/Immune spleen       highly   thymus       highly Nervous brain       highly Urinary kidney       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

EP300 KIX-domain-specific-interacting protein

HOMOLOGY

interspecies

homolog to murine Prps1

Homologene

FAMILY

ribose phosphate pyrophosphokinase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
text

basic FUNCTION	playing an essential role for nucleoside biosynthesis and for de novo purine synthesis
	catalyzes the reaction of ribose-5-phosphate (R5P) with ATP to yield AMP and PRPP (5-phosphoribosyl-1-pyrophosphate), which is necessary for the de novo and salvage pathways of purine-, pyrimidine-, and pyridine-nucleotide biosynthesis
	may be playing a role in inner ear development and maintenance
	its activity is normally tightly regulated in neuronal cells and that imbalances in nucleotide metabolism are particularly detrimental to neuronal function
	serves as an adaptor to bridge SIAH1 to XIAP, targeting it for destruction
	initiates caspase activation upstream of cytochrome C and DIABLO
	is a key enzyme to produce the consensus precursor of nucleotide synthesis
	key enzyme in de novo nucleotide synthesis and nucleotide salvage synthesis pathways that are critical for purine and pyrimidine biosynthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

nucleic

signaling

nucleotide

a component

INTERACTION

DNA

RNA

small molecule	cofactor,
	Mg2+

protein	interacting with EP300 (bound the KIX (kinase-inducible) domain of EP300 and may play a role in the regulation of DNA synthesis through interactions with PRPS1)
	pro-apoptotic tumor suppressor protein that functions as an antagonist of X-linked IAP (XIAP) to promote apoptosis

cell & other

REGULATION

Other

enzymatic activity is regulated by cofactors, metabolites, and interacting proteins

ASSOCIATED DISORDERS

corresponding disease(s)

PRPS1 , CMTX5 , ARTS , DFN2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   inhibited neuroblastoma cell proliferation and tumor growth via disturbing DNA synthesis tumoral     --over   in colorectal cancer constitutional germinal mutation       causing retinal degeneration in females

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	increased PRPS1 activity, which is marked by S103 phosphorylation, is more important in promoting tumorigenesis and is a promising diagnostic indicator for Colorectal cancer
Therapy target
	System Type Disorder Pubmed neuromuscular neuropathy   target for drugs in prevention and treatment of peripheral neuropathy by antimetabolite therapy

ANIMAL & CELL MODELS