ZUP1

Chr 6

zinc finger containing ubiquitin peptidase 1

Also known as: C6orf113, DUB, ZUFSP

NCBI Gene: 221302 ENSG00000153975 UniProt: Q96AP4

The protein functions as a K63-specific deubiquitinating enzyme that cleaves polyubiquitin chains and plays an important role in genome stability pathways by preventing spontaneous DNA damage and promoting cellular survival in response to DNA damage. Mutations in this gene cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy. The gene shows extremely high intolerance to loss-of-function variants, indicating critical importance for normal cellular function.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein containing zinc finger motifs and a cysteine peptidase domain. The encoded protein functions as a K63-specific de-ubiquitinating enzyme that specifically cleaves long K63-linked polyubiquitin chains in the middle of a chain (i.e. "endo cleavage) rather than by removing the terminal ubiquitin from a chain. This enzyme is thought to be involved in the regulation of DNA repair by cleaving K63-linked ubiquitin chains at repair foci. This protein is related to proteases for the ubiquitin-like modifiers Ufm1 (ubiquitin fold modifier 1) and Atg8/Gabarapl2, but does not have any activity on these modifiers. [provided by RefSeq, Mar 2018]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.96

LOEUF

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Mechanism

Some data sources returned errors (1)