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
- Position
- 81,471,547–81,533,882 (−)
- Aliases
- Hrd3, NEDGSAF, NEDHGFA, PRO1063, SEL1-LIKE, SEL1L1
- Ensembl
- ENSG00000071537
- RefSeq RNA
- NM_001244984.2, NM_005065.6, XM_005267988.4, XM_005267989.5, XM_047431676.1
- RefSeq protein
- NP_001231913.1, NP_005056.3, XP_005268045.1, XP_005268046.1, XP_047287632.1
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].
Gene Ontology
Biological process
Molecular function
Pathways
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
~1 min read
Encyclopedic overview
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.
Excerpted from Wikipedia’s “SEL1L” article, available under the CC BY-SA 4.0 licence.