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FLASH GENE

Symbol

APRT

contributors: mct/npt - updated : 12-05-2022

HGNC name	adenine phosphoribosyltransferase
HGNC id	626

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	APRT urolithiasis
Location	16q24.3      Physical location : 88.875.878 - 88.878.342
Synonym name	transphosphoribosidase
	AMP pyrophosphorylase
	AMP diphosphorylase
Synonym symbol(s)	MGC125857, MGC125856, DKFZp686D13177, MGC129961, AMP
EC.number	2.4.2.7

DNA

TYPE	functioning gene
STRUCTURE	2.47 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	cytosine-phosphate-guanine/HTF
text structure	no TATA, no CCATT, five CpG boxes

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000485 5 - 807 NP_000476 19.4 180 - 2021 33707627 NM_001030018 5 - 673 NP_001025189 - 134 - 2021 33707627

EXPRESSION

Type

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 Reproductive female system ovary         male system prostate       Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

phosphoribosyl transferase domain

mono polymer

homomer , dimer

HOMOLOGY

interspecies

ortholog to rattus aprt

Homologene

FAMILY

purine/pyrimidine phosphoribosyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic,granule
	intracellular,nucleus,nucleoplasm

basic FUNCTION	synthesis of AMP from adenine and 5-phosphoribosyl-1-pyrophosphate (PRPP)
	purine salvage pathway
	important enzyme component of the purine recycling pathway (Silva 2008)
	is the only enzyme known to produce AMP in cells from dietary adenine

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

purine/pyrimidine

signaling

purine ribonucleoside salvage

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

APRT

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS