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FLASH GENE

Symbol

HPRT1

contributors: mct/npt - updated : 15-07-2008

HGNC name	hypoxanthine phosphoribosyltransferase 1
HGNC id	5157

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000194 9 - 1435 NP_000185 24 218 - Rothkamm (2008)

EXPRESSION

Type	ubiquitous

constitutive of

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 Digestive liver       moderately   pancreas exocrine       moderately Lymphoid/Immune lymph node       highly   spleen       highly Reproductive female system uterus cervix   predominantly   male system testis     highly Skin/Tegument skin       moderately Urinary kidney       moderately

tissue

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

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

homomer , tetramer

HOMOLOGY

interspecies	ortholog to murine Hprt
	ortholog to rattus Hprt

Homologene

FAMILY

purine/pyrimidine phosphoribosyltransferase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	having a central role in the generation of purine nucleotides through the purine salvage pathway
	catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate
	HPRT1-mediated purine recycling has an important role in regulating early developmental programming of dopaminergic neurons (Ceballos-Picot 2009)
	playing a role in neurodevelopment (Cristini 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

behavioral

PATHWAY

metabolism

nucleic , purine/pyrimidine

signaling

purine salvage pathway

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Mg2+ (2 ions per subunit)

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPRT1D , GHPR

related resource

Hypoxanthine Guanine Phosphoribosyltransferase 1, Lech-Nyhan Syndrome

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral       loss of function in bladder carcinoma

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS