HPRT1 (hypoxanthine phosphoribosyltransferase 1)

2006-10-01  

Identity

HGNC
HPRT1
LOCATION
Xq26.2
LOCUSID
3251
ALIAS
HGPRT,HPRT
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3251
MIM: 308000
HGNC: 5157
Ensembl: ENSG00000165704

Variants:

dbSNP: 3251
ClinVar: 3251
TCGA: ENSG00000165704
COSMIC: HPRT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165704ENST00000298556P00492
ENSG00000165704ENST00000298556A0A140VJL3

Expression (GTEx)

0
50
100
150
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
Drug metabolism - other enzymesKEGGko00983
Purine metabolismKEGGhsa00230
Drug metabolism - other enzymesKEGGhsa00983
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of nucleotidesREACTOMER-HSA-15869
Purine metabolismREACTOMER-HSA-73847
Purine salvageREACTOMER-HSA-74217

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164748728mycophenolic acidChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
377372472023Hypoxanthine phosphoribosyl transferase 1 metabolizes temozolomide to activate AMPK for driving chemoresistance of glioblastomas.2
377372472023Hypoxanthine phosphoribosyl transferase 1 metabolizes temozolomide to activate AMPK for driving chemoresistance of glioblastomas.2
351140182022Hypoxanthine-guanine phosphoribosyltransferase is activated via positive cooperativity between guanine and IMP.2
361789272022Expression variation of OGG1 and HPRT gene and DNA damage in arsenic exposed industrial workers.2
351140182022Hypoxanthine-guanine phosphoribosyltransferase is activated via positive cooperativity between guanine and IMP.2
361789272022Expression variation of OGG1 and HPRT gene and DNA damage in arsenic exposed industrial workers.2
333404932021HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.9
342313382021Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.15
333404932021HPRT promotes proliferation and metastasis in head and neck squamous cell carcinoma through direct interaction with STAT3.9
342313382021Overexpression of HPRT1 is associated with poor prognosis in head and neck squamous cell carcinoma.15
328268752020In vitro analysis reveals necroptotic signaling does not provoke DNA damage or HPRT mutations.2
328268752020In vitro analysis reveals necroptotic signaling does not provoke DNA damage or HPRT mutations.2
308313052019Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.9
312402112019PPIA, HPRT1, and YWHAZ Genes Are Suitable for Normalization of mRNA Expression in Long-Term Expanded Human Mesenchymal Stem Cells.12
308313052019Understanding the structure-function relationship of HPRT1 missense mutations in association with Lesch-Nyhan disease and HPRT1-related gout by in silico mutational analysis.9

Citation

Dessen P

HPRT1 (hypoxanthine phosphoribosyltransferase 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43310