DNASE1L1

Chr X

deoxyribonuclease 1 like 1

Also known as: DNAS1L1, DNASEX, DNL1L, G4.8, XIB

NCBI Gene: 1774 ENSG00000013563 UniProt: P49184

The protein is a deoxyribonuclease localized to the endoplasmic reticulum that degrades DNA and is modified by N-linked glycosylation. Mutations cause autosomal recessive systemic lupus erythematosus, an autoimmune condition affecting multiple organ systems including skin, joints, kidneys, and the central nervous system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.69), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq

This gene encodes a deoxyribonuclease protein that shows high sequence similarity to DNase I. The encoded protein is localized to the endoplasmic reticulum and modified by N-linked glycosylation. Alternate transcriptional splice variants encoding the same protein have been observed. [provided by RefSeq, Jan 2015]

ResearchGenerating clinical summary…

LOEUF 0.69

Clinical Summary— DNASE1L1

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.22) despite low pLI — interpret in context.

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