PRPS1 - phosphoribosyl pyrophosphate synthetase 1 Gene

Homo sapiens

Also known as ARTS; DFN2; PRSI; CMTX5; DFNX1; PRS-I; PPRibP

Gene ID: 5631 | Gene type: protein coding

About PRPS1

Cytogenetic location: Xq22.3 Genomic coordinates (GRCh38): X:107,628,510-107,651,026 (from NCBI)

This gene has 25 transcripts (splice variants), 319 orthologues, 4 paralogues and is associated with 15 phenotypes. Ubiquitous expression in thyroid (RPKM 27.0), brain (RPKM 23.0) and 25 other tissues.

Summary

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. [provided by RefSeq, Feb 2011]

PRPS1 Products(2)

mRNA	Protein	Name
NM_001204402.2	NP_001191331.1	ribose-phosphate pyrophosphokinase 1 isoform 2
NM_002764.4	NP_002755.1	ribose-phosphate pyrophosphokinase 1 isoform 1

PRPS1 Protein Structure

Pribosyltran_N

Pribosyl_synth

0
100
200
300
318 a.a.

Protein Preferred Names

Protein Names

ribose-phosphate pyrophosphokinase 1

dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1)

Recombinant PRPS1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P700595	PRPS1 Protein, Human (His-SUMO)	P60891-1 (P2-L318)	≥95%

Related Diseases

Diseases

Alias

Phosphoribosylpyrophosphate Synthetase Superactivity

PRPS1 SUPERACTIVITY	Prpp Synthetase Superactivity
Gout, Prps-Related	Prpp Synthetase Deficiency
Prpp Synthetase Overactivity	Prs Overactivity
Prs Superactivity	Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Mild Prpp Synthetase Superactivity	Mild Prps1 Superactivity
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Severe Prpp Synthetase Superactivity
Severe Prps1 Superactivity	Prps-Related Gout
Superactivity, Phosphoribosylpyrophosphate Synthetase

Arts Syndrome

ARTS	Mrxsarts
Ataxia, Fatal X-Linked, With Deafness And Loss Of Vision	Mrxs18
Lethal Ataxia With Deafness And Optic Atrophy	Fatal X-Linked Ataxia With Deafness And Loss Of Vision
Mental Retardation, X-Linked, Syndromic, Arts Type	Mental Retardation, X-Linked, Syndromic 18
Syndromic X-Linked Mental Retardation 18	Syndromic X-Linked Mental Retardation Arts Type
Lethal Ataxia-Deafness-Optic Atrophy	X-Linked Fatal Ataxia With Deafness And Loss Of Vision
Ataxia-Deafness-Optic Atrophy, Lethal	Lethal Ataxia With Hearing Loss And Optic Atrophy
Art

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

CMTX5	Rosenberg-Chutorian Syndrome
Charcot-Marie-Tooth Disease X-Linked Recessive 5	Optic Atrophy, Polyneuropathy, And Deafness
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5	Cmt5x
X-Linked Charcot-Marie-Tooth Disease Type 5	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
Optic Atrophy Polyneuropathy Deafness	Optic Atrophy With Polyneuropathy And Deafness
Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

Deafness, X-Linked 1

DFNX1	Dfn2
Deafness, X-Linked 2, Sensorineural Congenital	X-Linked Deafness 1
X-Linked Sensorineural Congenital Deafness 2	Deafness, X-Linked, 1
Congenital Sensorineural Deafness X-Linked 2	Deafness, X-Linked, Type 1

Charcot-Marie-Tooth Neuropathy X Type 5

Cmtx5	Rosenberg-Chutorian Syndrome
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome

X-Linked Non-Syndromic Sensorineural Deafness Type Dfn

X-Linked Isolated Neurosensory Deafness Type Dfn	X-Linked Isolated Neurosensory Hearing Loss Type Dfn
X-Linked Isolated Sensorineural Deafness Type Dfn	X-Linked Isolated Sensorineural Hearing Loss Type Dfn
X-Linked Non-Syndromic Neurosensory Deafness Type Dfn	X-Linked Non-Syndromic Neurosensory Hearing Loss Type Dfn
X-Linked Non-Syndromic Sensorineural Hearing Loss Type Dfn

Hereditary Hearing Loss And Deafness

Gout

Gouty Arthritis	Articular Gout
Gouty Arthropathy	Arthritis, Gouty
Arthritis Gouty	Idiopathic Gout
Idiopathic Gout, Unspecified Site	Gouty Bursitis
Uratic Arthritis	Gout Nos
Gouty	Gouty Diathesis

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Deafness, X-Linked 2

Progressive Deafness With Stapes Fixation	DFNX2
Dfn3	Nance Deafness
Perilymphatic Gusher-Deafness Syndrome	Stapedo-Vestibular Ankylosis
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear	X-Linked Deafness 2
X-Linked Mixed Conductive And Neurosensory Deafness	X-Linked Mixed Conductive And Sensorineural Deafness
Deafness 3 Conductive With Stapes Fixation	Deafness Conductive With Stapes Fixation
Deafness Mixed With Perilymphatic Gusher	Thies-Reis Syndrome
Deafness, Conductive, With Stapes Fixation	Deafness 3, Conductive, With Stapes Fixation
Deafness, Mixed, With Perilymphatic Gusher	Conductive Deafness 3 With Stapes Fixation
Conductive Deafness With Stapes Fixation	Mixed Deafness With Perilymphatic Gusher
X-Linked Deafness Type 2	X-Linked Mixed Conductive And Neurosensory Hearing Loss
X-Linked Mixed Conductive And Sensorineural Hearing Loss	X-Linked Sensorineural Deafness
X-Linked Stapes Gusher Syndrome	Deafness Mixed With Perilymphatic Gusher, X-Linked
Dfn 3 Nonsyndromic Hearing Loss And Deafness	Gusher Syndrome
Thies Reis Syndrome	Progressive Hearing Loss With Stapes Fixation
Deafness, X-Linked, 2	Deafness Mixed With Perilymph Gusher X-Linked
Deafness, X-Linked, Type 2	Progressive Hearing Loss Stapes Fixation

Charcot-Marie-Tooth Disease Type 5

Hereditary Motor And Sensory Neuropathy With Pyramidal Features

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Deafness, X-Linked 4

DFNX4	Dfn6
Deafness, Nonsyndromic Sensorineural Progressive 6	X-Linked Deafness 4
Deafness, X-Linked 6, Progressive	Nonsyndromic Sensorineural Progressive Deafness 6
X-Linked Progressive Deafness 6	Deafness, X-Linked, 4
Deafness Nonsyndromic Sensorineural Progressive 6	Deafness X-Linked 6 Progressive
Deafness, X-Linked, Type 4

Charcot-Marie-Tooth Disease Type X

X-Linked Nonsyndromic Deafness

X-Linked Deafness

Deafness, X-Linked

Nephrolithiasis, Uric Acid

Nephrolithiasis, Uric Acid, Susceptibility To	Uric Acid Urolithiasis
Uric Acid Nephrolithiasis	UAN
Acute Urate Nephropathy	Urolithiasis, Uric Acid
Urolithiasis, Uric Acid, Susceptibility To	Uric Acid Renal Calculus

Charcot-Marie-Tooth Disease, X-Linked Recessive, 2

CMTX2	Charcot-Marie-Tooth Disease X-Linked Recessive 2
X-Linked Charcot-Marie-Tooth Disease Type 2	Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2
Charcot-Marie-Tooth Neuropathy X-Linked Recessive 2	Charcot-Marie-Tooth Disease, X-Linked Type 2, Recessive

Deafness, X-Linked 3

DFNX3	Dfn4
X-Linked Deafness 3	Deafness, X-Linked 4, Congenital Sensorineural
Congenital Sensorineural X-Linked Deafness 4

Deafness, X-Linked 5, With Peripheral Neuropathy

Deafness, X-Linked 5	DFNX5
Aunx1	Auditory Neuropathy, X-Linked, 1, With Peripheral Sensory Neuropathy
X-Linked Deafness 5	X-Linked Auditory Neuropathy With Peripheral Sensory Neuropathy Type 1
X-Linked Hsan With Deafness	X-Linked Auditory Neuropathy 1 With Peripheral Sensory Neuropathy
X-Linked Hereditary Sensory And Autonomic Neuropathy With Deafness	X-Linked Hsan With Hearing Loss
X-Linked Hereditary Sensory And Autonomic Neuropathy With Hearing Loss	Deafness, X-Linked, 5, With Peripheral Neuropathy
Deafness, X-Linked, Type 5

Non-Syndromic X-Linked Intellectual Disability 63

Acsl4-Related Intellectual Disability	Mrx63
Mrx68	X-Linked Mental Retardation 68

Hyperuricemia

Blood Urate Raized

Uricacidemia

Cataract 40

CTRCT40	Cataract 40 With Or Without Microcornea
Cct	Cataract, Congenital, X-Linked
Cataract 40, X-Linked	Cataract, Congenital, With Microcornea Or Slight Microphthalmia
Cxn	Cataract, Congenital Total, With Posterior Sutural Opacities In Heterozygotes
Cataract 40 X-Linked	Cataract Congenital X-Linked
Cataract, Total Congenital	Cataract, Total Congenital With Posterior Sutural Opacities In Heterozygotes
Congenital Total Cataract With Posterior Sutural Opacities In Heterozygotes	X-Linked Congenital Cataract
Cataract, Type 40

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Urolithiasis

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Syndromic X-Linked Intellectual Disability

X-Linked Syndromic Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 30

Mrx30	Mrx47
X-Linked Mental Retardation 30/47	X-Linked Mental Retardation 47
Mental Retardation, X-Linked, Type 30/47

Deafness, X-Linked 7

X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome	DFNX7
X-Linked Deafness 7	Deafness, X-Linked, 7

Childhood B-Cell Acute Lymphoblastic Leukemia

B-Cell Childhood Acute Lymphoblastic Leukemia

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Charcot-Marie-Tooth Disease And Deafness

Charcot-Marie-Tooth Disease Type 1e	CMT1E
Charcot-Marie-Tooth Disease Type 1	Hereditary Motor And Sensory Neuropathy Type 1
Charcot-Marie-Tooth Disease, Demyelinating, Type 1e	Charcot-Marie-Tooth Disease, Type I
Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant	Charcot-Marie-Tooth Disease, Type 1e
Charcot-Marie-Tooth Disease Demyelinating Type 1e	Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease
Cmt1	Charcot-Marie-Tooth Neuropathy Type 1
Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness	Charcot-Marie-Tooth Disease-Deafness
Charcot-Marie-Tooth Type 1	Hmsn1
Hereditary Motor And Sensory Neuropathy 1	Cmt 1e
Charcot Marie Tooth Disease Type 1e	Charcot-Marie-Tooth Disease-Deafness Syndrome
Charcot-Marie-Tooth Disease-Hearing Loss Syndrome	Charcot-Marie-Tooth Disease 1e
Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant	Charcot-Marie-Tooth Neuropathy Type 1e
Charcot-Marie-Tooth Disease, Type Ie	Hereditary Motor And Sensory Neuropathy Type I

Syndromic Intellectual Disability

Lesch-Nyhan Syndrome

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	LNS
Hprt Deficiency	Complete Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency	X-Linked Hyperuricemia
Choreoathetosis Self-Mutilation Syndrome	Hprt1 Deficiency
Hprt Deficiency, Complete	Deficiency Of Imp Pyrophosphorylase
Hgprt Deficiency	Lesch-Nyhan Disease
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency	Hg-Prt Deficiency
Hypoxanthine-Guanine-Phosphoribosyltransferase Deficiency	Lesch - Nyhan Syndrome
Hprt1 Disorders	Lesch Nyhan Syndrome
Complete Hprt Deficiency Complete	Lesch Nyhan Disease
Complete Hprt Deficiency	Deficiency Of Guanine Phosphoribosyltransferase
Deficiency Of Hypoxanthine Phosphoribosyltransferase	Hypoxanthine Phosphoribosyltransferase Deficiency
Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome	Juvenile Hyperuricemia Syndrome
Lnd	Primary Hyperuricemia Syndrome
Total Hprt Deficiency	Total Hypoxanthine-Guanine Phosphoribosyl Transferase Deficiency
X-Linked Primary Hyperuricemia	X-Linked Uric Aciduria Enzyme Defect
Hprt Complete Deficiency	Hprt Deficiency Grade Iv
Hypoxanthine Guanine Phosphoribosyltransferase Complete Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade Iv
Hypoxanthine-Guanine Phosphoribosyltransferase 1 Deficiency	Hprt - [ Hypoxanthine-Guanine Phosphoribosyltransferase] Complete Deficiency
Total Hgprt - [Hypoxanthine-Guanine Phosphoribosyltransferase] Deficiency

Hyperuricemia, Hprt-Related

Hprt-Related Gout	Kelley-Seegmiller Syndrome
Hprt Deficiency, Partial	HRH
Gout, Hprt-Related	Hprt1 Deficiency, Partial
Hrpt-Related Hyperuricemia	Hprt Deficiency, Grade I
Hprt Partial Deficiency	Hprt-Related Hyperuricemia
Hprt1 Partial Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I	Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency	Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
Hyperuricemia, Hrpt-Related

Purine-Pyrimidine Metabolic Disorder

Inborn Errors Of Purine-Pyrimidine Metabolism

Disorder Of Purine Or Pyrimidine Metabolism

Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive

Charcot-Marie-Tooth Disease Type 4	Charcot-Marie-Tooth Disease Type 4e
Hereditary Motor And Sensory Neuropathy	Cmt4e
CHN1	Hypomyelinating Neuropathy, Congenital, 1
Charcot-Marie-Tooth Neuropathy Type 4e	Neuropathy, Congenital Hypomyelinating, 1
Ar-Cmt1	Autosomal Recessive Demyelinating Charcot-Marie-Tooth
Cmt4	Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
Hypomyelination, Severe Congenital	Charcot-Marie-Tooth Disease, Type 4e
Charcot-Marie-Tooth Neuropathy, Type 4e	Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
Autosomal Recessive Congenital Hypomyelinating Neuropathy	Congenital Amyelinating Neuropathy
Congenital Hypomyelinating Neuropathy Autosomal Recessive	Neuropathy, Congenital Hypomyelinating Or Amyelinating
Severe Congenital Hypomyelination	Hereditary Sensory Motor Neuropathy
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive	Neuropathy, Hypomyelinating, Congenital, Type 1
Neuropathy, Motor And Sensory, Hereditary	Congenital Hypomyelinating Neuropathy
Hereditary Motor And Sensory Neuropathies	Hereditary Sensorimotor Neuropathy
Hmsn - [Hereditary Motor And Sensory Neuropathy]	Hsmn - [Hereditary Sensory And Motor Neuropathy]
Hereditary Motor And Sensory Neuropathy, Types I-Iv

Charcot-Marie-Tooth Disease X-Linked Recessive 4

Cmt4x	Cmtx4
Cowchock Syndrome	X-Linked Charcot-Marie-Tooth Disease Type 4
Axonal Motor Sensory Neuropathy With Deafness And Mental Retardation	Charcot-Marie-Tooth Disease With Deafness And Mental Retardation
Nadmr	Namsd

Retinal Degeneration

Degeneration Of Retina

Opitz-Kaveggia Syndrome

Fg Syndrome	Fgs1
Fgs	Keller Syndrome
OKS	Fg Syndrome 1
Fg Syndrome Type 1	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum	Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-128345	UDM-001651	Antagonist	/	Unkown
HY-RS11219	PRPS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PRPS1	VGNC	VGNC:53800
Rattus norvegicus	PRPS1	RGD	RGD:61955
Felis catus	PRPS1	VGNC	VGNC:108500
Canis familiaris	PRPS1	VGNC	VGNC:54184
Mus musculus	PRPS1	MGD	MGI:97775
Macaca mulatta	PRPS1	VGNC	VGNC:103848
Others	PRPS1	NCBI