APRT (adenine phosphoribosyltransferase)

2007-04-01  

Identity

HGNC
APRT
LOCATION
16q24.3
LOCUSID
353
ALIAS
AMP,APRTD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 353
MIM: 102600
HGNC: 626
Ensembl: ENSG00000198931

Variants:

dbSNP: 353
ClinVar: 353
TCGA: ENSG00000198931
COSMIC: APRT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198931ENST00000378364P07741
ENSG00000198931ENST00000426324P07741
ENSG00000198931ENST00000563655H3BQZ9
ENSG00000198931ENST00000567391H3BSW3
ENSG00000198931ENST00000567713H3BQF1
ENSG00000198931ENST00000568319H3BSW3
ENSG00000198931ENST00000569616H3BQB1

Expression (GTEx)

0
50
100
150
200
250
300
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Purine metabolismKEGGko00230
Purine metabolismKEGGhsa00230
Metabolic pathwaysKEGGhsa01100
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine salvageREACTOMER-HSA-74217
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
364337282023Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.3
364337282023Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.3
337076272021Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.2
337076272021Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency.2
311603232019Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction.0
311603232019Structural basis for substrate selectivity and nucleophilic substitution mechanisms in human adenine phosphoribosyltransferase catalyzed reaction.0
301044012018A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.5
301044012018A pan-cancer study of the transcriptional regulation of uricogenesis in human tumours: pathological and pharmacological correlates.5
257354322015A thymine-adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus.3
257354322015A thymine-adenine dinucleotide repeat polymorphism near IL28B is associated with spontaneous clearance of hepatitis C virus.3
249863592014Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.0
249863592014Adenine phosphoribosyltransferase (APRT) deficiency: identification of a novel nonsense mutation.0
216353622011A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.0
216353622011A Japanese boy with adenine phosphoribosyltransferase (APRT) deficiency caused by compound heterozygosity including a novel missense mutation in APRT gene.0
193995892009The phosphorylation status of membrane-bound nucleoside diphosphate kinase in epithelia and the role of AMP.9

Citation

Dessen P

APRT (adenine phosphoribosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47016