SEL1L
Sign in to saveAlso known as PRO1063, SEL1-LIKE, SEL1L1, SEL1L ERAD E3 ligase adaptor subunit, SEL1L, ERAD E3 ligase adaptor subunit, Hrd3, SEL1L adaptor subunit of ERAD E3 ubiquitin ligase
Protein sel-1 homolog 1 is a protein that in humans is encoded by the SEL1L gene.
Gene data
SEL1L- Name
- SEL1L adaptor subunit of SYVN1 ubiquitin ligase
- Type
- protein-coding
- Aliases
- Hrd3, NEDGSAF, NEDHGFA, PRO1063, SEL1-LIKE, SEL1L1
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].
via MyGene.info
Gene · Ensembl
SEL1L adaptor subunit of SYVN1 ubiquitin ligase
- Symbol
- SEL1L
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:81,471,547-81,533,882
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 31286
- genomic start
- 81471547
- exact match
- identifiers.org/ncbigene/6400
- genomic end
- 81533853
- cytogenetic location
- 14q31.1
Sources (4)
via Wikidata · CC0
~1 min read
Article
3 sectionsContents
- Clinical relevance
- References
- Further reading
Protein sel-1 homolog 1 is a protein that in humans is encoded by the SEL1L gene.
==Clinical relevance== A mutation in this gene in Finnish Hound dogs have been implicated in cases of cerebellar ataxia. Mutant cells suffer disruptions in their endoplasmic reticula, leading to disease.