APRT - adenine phosphoribosyltransferase Gene

Also Known as AMP; APRTD

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 353

About APRT

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:88,809,339-88,811,928 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues and is associated with 2 phenotypes. Ubiquitous expression in colon (RPKM 38.8), appendix (RPKM 37.9) and 25 other tissues.

Summary

Adenine phosphoribosyltransferase belongs to the purine/pyrimidine phosphoribosyltransferase family. A conserved feature of this gene is the distribution of CpG dinucleotides. This enzyme catalyzes the formation of AMP and inorganic pyrophosphate from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP). It also produces adenine as a by-product of the polyamine biosynthesis pathway. A homozygous deficiency in this enzyme causes 2,8-dihydroxyadenine urolithiasis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

APRT Products (2)

mRNA	Protein	Name
NM_000485.3	NP_000476.1	adenine phosphoribosyltransferase isoform a
NM_001030018.2	NP_001025189.1	adenine phosphoribosyltransferase isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables AMP binding	IDA IDA: Inferred from direct assay	15196008	GOA
enables adenine phosphoribosyltransferase activity	IDA IDA: Inferred from direct assay	15196008	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

APRT Protein Structure

Pribosyltran

0
100
180 a.a.

Protein Preferred Names	Protein Names
adenine phosphoribosyltransferase	AMP diphosphorylase

APRT Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	APRT	P07741	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	APRT	P07741	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	APRT	P07741	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	APRT	P07741	TTC19	Homo sapiens	Q6DKK2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Adenine Phosphoribosyltransferase Deficiency	Aprt Deficiency 2,8-Dihydroxyadenine Urolithiasis APRTD 2,8-Dihydroxyadeninuria Dihydroxyadeninuria Urolithiasis, 2,8-Dihydroxyadenine Urolithiasis, Dha Nephrolithiasis, Dha Dha Crystalline Nephropathy Nephrolithiasis Dha Urolithiasis Dha
Urolithiasis
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
Xanthinuria	Xanthine Dehydrogenase Deficiency Xanthine Oxidase Deficiency Hereditary Xanthinuria Xanthic Urolithiasis Xanthine Stone Disease Xanthinuria, Type I Combined Deficiency Of Xanthine Dehydrogenase And Aldehyde Oxidase Xdh Deficiency Classic Xanthinuria Xanthinuria, Type Ii Classical Xanthinuria Xanthine Calculus
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
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
Nephrolithiasis, Calcium Oxalate	Kidney Stones Calculus Of Kidney Kidney Calculi Nephrolithiasis Renal Calculi Calcium Oxalate Urolithiasis CAON Urolithiasis, Calcium Oxalate Calcium Oxalate Nephrolithiasis Kidney Stone Nephrolith Renal Calculus Urinary Stones Renal Stone Calculus, Kidney Calculus, Renal Renal Lithiasis Renal Stones Urolithiasis Renal Calculus Or Stone Stone In Kidney Nephritic Calculus Multiple Kidney Calculi Multiple Kidney Calculus Nephrolithiasis Nos Pelvic Nephrolithiasis Pelviolithiasis Pelvis Nephrolithiasis
Disorder Of Purine Metabolism	Purine Metabolism Disorder
Mucopolysaccharidosis Iv	Morquio Syndrome Mucopolysaccharidosis Type 4 Mucopolysaccharidosis Type Iv Morquio Disease Galactosamine-6-Sulfatase Deficiency Mps4 Mpsiv Morquio-Brailsford Disease Chondroosteodystrophy Deficiency Of Chondroitinsulphatase Deficiency Of N-Acetylgalactosamine-6-Sulphatase Mucopolysaccharidosis, Mps-Iv Osteochondrodystrophy Morquio'S Disease Morquio'S Syndrome Mps Iv Mucopolysaccharidosis Iv Morquios Syndrome Mucopolysaccharidosis, Mps-Iv-A Mucopolysaccharidosis Type Ivb Galns Deficiency
Purine-Pyrimidine Metabolic Disorder	Inborn Errors Of Purine-Pyrimidine Metabolism Disorder Of Purine Or Pyrimidine Metabolism
Nephrolithiasis	Kidney Stones Stone - Kidney/Ureter Kidney Calculi
Interstitial Nephritis	Nephritis, Interstitial Renal Tubulo-Interstitial Disease Nephritis Interstitial Nephritis, Tubulointerstitial
Purine Nucleoside Phosphorylase Deficiency	Purine-Nucleoside Phosphorylase Deficiency Pnp Deficiency Nucleoside Phosphorylase Deficiency Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency Deficiency Of Inosine Phosphorylase Pnpase Deficiency PNPD
Mucopolysaccharidosis-Plus Syndrome	Mucopolysaccharidosis Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders MPSPS Mucopolysaccharidoses Mps Mucopolysaccharidosis-Like Plus Disease Disorders Of Glycosaminoglycan Metabolism
Retinitis Pigmentosa 56	RP56 Maculopathy, Impg2-Related MACLP-IMPG2 Retinitis Pigmentosa, Type 56
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
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Diabetes Insipidus, Nephrogenic, Autosomal NDI2 Diabetes Insipidus, Nephrogenic, Type Ii Diabetes Insipidus, Nephrogenic, 2 Nephrogenic Diabetes Insipidus Type 2 Autosomal Nephrogenic Diabetes Insipidus-2 Diabetes Insipidus, Nephrogenic Type 2 ANDI Diabetes Insipidus Nephrogenic Type 2 Doid:0081061 Nephrogenic Diabetes Insipidus Congenital Nephrogenic Diabetes Insipidus Adh-Resistant Diabetes Insipidus
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
Intellectual Developmental Disorder, Autosomal Dominant 46	MRD46 Mental Retardation, Autosomal Dominant 46 Autosomal Dominant Mental Retardation 46 Autosomal Dominant Intellectual Developmental Disorder 46 Mental Retardation, Autosomal Dominant, Type 46
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11 Mddga11 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11
Molybdenum Cofactor Deficiency, Complementation Group A	MOCODA Sulfite Oxidase Deficiency Due To Molybdenum Cofactor Deficiency Type A Molybdenum Cofactor Deficiency A Molybdenum Cofactor Deficiency Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Type A Mocod Type A Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase, Combined Deficiency Of Molybdenum Cofactor Deficiency Complementation Group A Molybdenum Cofactor Deficiency, Type A Deficiency, Molybdenum Cofactor, Complementation Group A
Molybdenum Cofactor Deficiency	Combined Molybdoflavoprotein Enzyme Deficiency Mocod Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency Deficiency Of Molybdenum Cofactor Deficiency, Molybdenum Cofactor
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
Mucopolysaccharidosis, Type Iva	Mps Iva Galns Deficiency MPS4A Morquio A Disease Galactosamine-6-Sulfatase Deficiency Morquio Syndrome A Mucopolysaccharidosis Iva Mucopolysaccharidosis Type Iva Mpsiva Morquio Disease Type A Mucopolysaccharidosis Type 4a N-Acetylgalactosamine-6-Sulfate Sulfatase Deficiency Morquio Syndrome Type A Mps 4a Morquio Disease, Type A Mucopolysaccharidosis 4a Morquio'S Syndrome A Mps Iv A Mucopolysaccharidosis Iv Mucopolysaccharidosis, Mps-Iv-A
Cystinuria	CSNU Cystinuria Type B Cystinuria Type A Cystinuria, Type I, Formerly Csnu1, Formerly Cystinuria, Type Ii, Formerly Cystinuria, Type Iii, Formerly Csnu3, Formerly Cystinuria, Type Non-I, Formerly Cystinuria-Lysinuria Cystinuria-Lysinuria Syndrome Csnu1 Csnu3 Cystinuria 1 Cystinuria Type A/B Cystinuria Type I Cystinuria Type Ii Cystinuria Type Iii Cystinuria Type Non-I Cystinuria, Type A/B Cystinuria Type 1 Cystinuria - Lysinuria Csnu - [Cystinuria] Cystine Disease
Chronic Kidney Disease	Chronic Renal Disease Chronic Kidney Failure Ckd Chronic Renal Failure Kidney Failure, Chronic Chronic Renal Failure Syndrome Crf Renal Failure - Chronic Renal Failure Chronic Chronic Kidney Diseases Chronic Kidney Disease Stage 5 Ckd - [Chronic Kidney Disease] Crf - [Chronic Renal Failure] Chronic Kidney Impairment Chronic Renal Impairment Chronic Kidney Shutdown Chronic Hypoxic Kidney Failure Chronic Kidney Collapse Chronic Renal Insufficiency Chronic Kidney Toxaemia Chronic Kidney Hypofunction Chronic Renal Suppression Chronic Renal Failure, Stage 5 Ckd - [Chronic Kidney Disease] Stage 5 End Stage Kidney Failure End Stage Renal Failure End Stage Kidney Disease End Stage Renal Disease End Stage Chronic Renal Failure Esrf - [End Stage Renal Failure] Esrd - [End Stage Renal Diseases] Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²

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

Pre-clinical Phase

Bioactive Molecules (10)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N9941	2,8-Dihydroxyadenine		98.53%	Unkown
HY-119413	9-Ethyladenine	Antagonist	99.87%	Unkown
HY-N5134S2	5'-Guanylic acid-15N5 dilithium		99.33%	Unkown
HY-N5134S1	5'-Guanylic acid-13C10 dilithium		/	Unkown
HY-N5134S3	5'-Guanylic acid-d12 dilithium		/	Unkown
HY-RS00869	APRT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-N5134S4	5'-Guanylic acid-15N5,d12 dilithium		/	Unkown
HY-N5134S5	5'-Guanylic acid-13C10,15N5 dilithium		/	Unkown
HY-RS18126	Aprt Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24600	Aprt Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	APRT	VGNC	VGNC:38014
Bos taurus	APRT	VGNC	VGNC:26042
Macaca mulatta	APRT	VGNC	VGNC:69992
Rattus norvegicus	APRT	RGD	RGD:1307758
Mus musculus	APRT	MGD	MGI:88061
Others	APRT	NCBI