SEL1L

Also 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

triglyceride metabolic process triglyceride metabolic process protein secretion protein secretion protein transport retrograde protein transport, ER to cytosol ERAD pathway ERAD pathway

Molecular function

protein binding ubiquitin-like ligase-substrate adaptor activity

Cellular component

Hrd1p ubiquitin ligase complex Hrd1p ubiquitin ligase complex Hrd1p ubiquitin ligase complex Hrd1p ubiquitin ligase ERAD-L complex endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum membrane endoplasmic reticulum membrane

Pathways

Protein processing in endoplasmic reticulum - Homo sapiens (human)Adaptive Immune System Signaling by NOTCH Signal Transduction Signal Transduction Disease Immune System Pre-NOTCH Processing in Golgi Pre-NOTCH Expression and Processing Transport of small molecules

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

View on Ensembl →

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

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Clinical relevance
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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.