SEL1L

Chr 14AR

SEL1L adaptor subunit of SYVN1 ubiquitin ligase

Also known as: Hrd3, NEDGSAF, NEDHGFA, PRO1063, SEL1-LIKE, SEL1L1

NCBI Gene: 6400 ENSG00000071537 UniProt: Q9UBV2 OMIM: 602329

The SEL1L protein is essential for endoplasmic reticulum-associated degradation (ERAD), facilitating the removal and degradation of misfolded proteins from the ER and supporting pancreatic cell survival and exocrine function. Mutations cause autosomal recessive congenital disorder of glycosylation with severe developmental delays, seizures, and pancreatic dysfunction. This gene is highly constrained against loss-of-function variation, indicating its critical importance for normal cellular function.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic faciesMIM #621067

Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemiaMIM #621068

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism