HPRT1

hypoxanthine phosphoribosyltransferase 1

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000165704
UniProt:: P00492
OMIM:: 308000
Synonyms:: HGPRT, HPRT

Cilia effects upon perturbation of HPRT1

Cilia number / % ciliated:: No effect
Loss-of-function effect:: No effect

Ciliogenesis screen results (4 screens)

Kim2016: Not Reported
Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:: increased circulating hdl cholesterol level, increased mean corpuscular volume, decreased erythrocyte cell number, abnormal gait, thrombocytopenia

Subcellular localization

cytosol, flagella

References: PMID:25613900

Functional category

Ciliary assembly/disassembly
Cilia length regulation

Function

HPRT1 localized to flagella (25613900) We found no evidence of significant difference in either cilia length or the proportion of ciliated cells at any developmental time point assessed

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