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For Research Use Only. Not For Clinical Use.


Background

The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]
Protein class

Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Oligodendrocytes, Oligodendrocyte precursor cells, Astrocytes, Inhibitory neurons, Microglial cells)

Immune cell specificity

Immune cell enriched (naive CD4 T-cell)

Cell line specificity

Cell line enhanced (RPMI-8226, U-266/70)

Interaction

Homodimer. Interacts with UBE2I. Interacts with MDM2. Interacts with CTNNB1. Identified in a complex with CTNNB1 and LEF1.

Molecular function

Hydrolase

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