APRT adenine phosphoribosyltransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: APRTprovided by HGNC
Official Full Name: adenine phosphoribosyltransferaseprovided by HGNC
Primary source: HGNC:HGNC:626
See related: Ensembl:ENSG00000198931 MIM:102600; AllianceGenome:HGNC:626
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMP; APRTD
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]
Expression: Ubiquitous expression in colon (RPKM 38.8), appendix (RPKM 37.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q24.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (88809339..88811928, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (94879859..94882448, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (88875747..88878336, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Title: Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
Title: Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.
binding to hAPRT is substrate shape-specific in the forward reaction, whereas it is base-specific in the reverse reaction. The forward reaction is mainly a nucleophilic substitution of type 2 (SN2) with a mix of SN1-type molecular mechanism. Based on our structural analysis, a magnesium-assisted SN2-type mechanism would be involved in the reverse reaction.
Title: Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction.
We found large differences between tumour types and individual tumours in their expression of XDH and APRT Variations in locus-specific DNA methylation and gene copy number correlated with the expression levels of XDH and APRT in human tumours respectively
Title: A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.
A long TA repeat in the promoter region of IL28B was associated with spontaneous HCV clearance.
Title: A thymine-adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus.
A new mutation, p.Gln147X, in APRT gene, was found in a patient with adenine phosphoribosyltransferase deficiency.
Title: Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.
Case study of 2 year old Japanese boy with APRT deficiency. Genetic analysis showed compound heterozygote APRT*J and missense mutation L33P. APRT deficiency should be suspected in patients with radiolucent kidney stones and urinary 2,8-DHA crystals.
Title: A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.
The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP are reported.
Title: The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP.
Data indicates that the flexible loop structure adopts an open conformation before and after binding of both substrates adenine and phosphoribosyl pyrophosphate.
Title: Structural complexes of human adenine phosphoribosyltransferase reveal novel features of the APRT catalytic mechanism.
APRT assay in a sample of patient hemolysate showed no detectable activity of the enzyme (25.56+/-9.55 U/L red blood cells in control healthy subjects).
Title: Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Adenine phosphoribosyltransferase deficiency MedGen: C0268120 OMIM: 614723 GeneReviews: Adenine Phosphoribosyltransferase Deficiency	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486660

RH68125 (e-PCR)
- UniSTS:27274

RH70957 (e-PCR)
- UniSTS:15081

GDB:180915 (e-PCR)
- UniSTS:155120

Clone Names

MGC125856, MGC125857, MGC129961, DKFZp686D13177

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables AMP binding	IDA Inferred from Direct Assay more info	PubMed
enables adenine binding	IBA Inferred from Biological aspect of Ancestor more info
enables adenine phosphoribosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables adenine phosphoribosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in AMP salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in AMP salvage	IEA Inferred from Electronic Annotation more info
involved_in GMP salvage	IEA Inferred from Electronic Annotation more info
involved_in IMP salvage	IEA Inferred from Electronic Annotation more info
involved_in adenine salvage	IBA Inferred from Biological aspect of Ancestor more info
involved_in grooming behavior	IEA Inferred from Electronic Annotation more info
involved_in purine ribonucleoside salvage	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: adenine phosphoribosyltransferase

Names: AMP diphosphorylase; AMP pyrophosphorylase; transphosphoribosidase

NP_000476.1

EC 2.4.2.7

NP_001025189.1

EC 2.4.2.7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008013.1 RefSeqGene

Range

5007..7596

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000485.3 → NP_000476.1 adenine phosphoribosyltransferase isoform a

See identical proteins and their annotated locations for NP_000476.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC092384, BM423481, BU507629

Consensus CDS

CCDS32511.1

UniProtKB/Swiss-Prot

G5E9J2, P07741, Q3KP55, Q68DF9

UniProtKB/TrEMBL

H3BQZ9

Related

ENSP00000367615.3, ENST00000378364.8

Conserved Domains (1) summary

TIGR01090
Location:9 → 179

apt; adenine phosphoribosyltransferase
NM_001030018.2 → NP_001025189.1 adenine phosphoribosyltransferase isoform b

See identical proteins and their annotated locations for NP_001025189.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate segment compared to variant 1, that causes a frameshift. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

BM423481, BM550173

Consensus CDS

CCDS45546.1

UniProtKB/TrEMBL

H3BQB1

Related

ENSP00000397007.2, ENST00000426324.6

Conserved Domains (1) summary

cl00309
Location:9 → 133

PRTases_typeI; Phosphoribosyl transferase (PRT)-type I domain