BPNT1

Chr 1

3'(2'), 5'-bisphosphate nucleotidase 1

Also known as: HEL20, HsPIP, PIP

NCBI Gene: 10380 ENSG00000162813 UniProt: O95861

BPNT1 encodes a phosphatase that converts 3'(2')-phosphoadenosine 5'-phosphate (PAP) to AMP and hydrolyzes inositol 1,4-bisphosphate to inositol 4-phosphate, preventing toxic accumulation of PAP and participating in inositol recycling. Mutations cause autosomal recessive pontocerebellar hypoplasia type 1F, characterized by progressive microcephaly, intellectual disability, and cerebellar atrophy with onset in infancy or early childhood. The gene shows very low constraint against loss-of-function variants (pLI < 0.001), consistent with autosomal recessive inheritance.

ResearchSummary from RefSeq, UniProt

BPNT1, also called bisphosphate 3-prime-nucleotidase, or BPntase, is a member of a magnesium-dependent phosphomonoesterase family. Lithium, a major drug used to treat manic depression, acts as an uncompetitive inhibitor of BPntase. The predicted human protein is 92% identical to mouse BPntase. BPntase's physiologic role in nucleotide metabolism may be regulated by inositol signaling pathways. The inhibition of human BPntase may account for lithium-induced nephrotoxicity. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.98

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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