hypoxanthine phosphoribosyltransferase 1

Summary
Gene Symbol
  • HPRT1
Aliases
  • HGPRT
  • Lesch-Nyhan syndrome
  • hypoxanthine guanine phosphoribosyl transferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
3251
HGNC
5157
PubChem
3251
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Cytoplasm
  • Direct protein sequencing
  • Disease variant
  • Glycosyltransferase
  • Gout
  • Isopeptide bond
  • Magnesium
  • Metal-binding
  • Nucleotide-binding
  • Phosphoprotein
  • Purine salvage
  • Reference proteome
  • Ubl conjugation
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A140VJL3
P00492
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000165704

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Disease
Disease Ontology
Displaying entries 1 - 10 of 280 in total
DO ID Disease Name Source
DOID:3355 fibrosarcoma
DOID:0040085 bacterial sepsis
DOID:0050427 xeroderma pigmentosum
DOID:0050461 aspartylglucosaminuria
DOID:0050589 inflammatory bowel disease
DOID:0050635 alternating hemiplegia of childhood
DOID:0050681 Borjeson-Forssman-Lehmann syndrome
DOID:0050776 non-syndromic X-linked intellectual disability
DOID:0050841 focal hand dystonia
DOID:0060022 CD40 ligand deficiency
The Human Phenotype Ontology
Displaying entries 21 - 30 of 47 in total
HPO ID HPO Term
HP:0001347 Hyperreflexia
HP:0001419 X-linked recessive inheritance
HP:0001854 Podagra
HP:0001889 Megaloblastic anemia
HP:0001903 Anemia
HP:0001919 Acute kidney injury
HP:0001997 Gout
HP:0002013 Vomiting
HP:0002015 Dysphagia
HP:0002071 Abnormality of extrapyramidal motor function
Displaying all 4 entries
Disease ID Disease Name
ORPHA:510
  • Lesch-Nyhan syndrome
ORPHA:79233
  • hypoxanthine guanine phosphoribosyltransferase partial deficiency
OMIM:300322
  • Lesch-Nyhan syndrome
OMIM:300323
  • hypoxanthine guanine phosphoribosyltransferase partial deficiency

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024