SEL1L

Protein sel-1 homolog 1 is a protein that in humans is encoded by the SEL1L gene.^[5][6][7][8]

SEL1L
Identifiers
Aliases	SEL1L, PRO1063, SEL1-LIKE, SEL1L1, SEL1L ERAD E3 ligase adaptor subunit, ERAD E3 ligase adaptor subunit, Hrd3, SEL1L adaptor subunit of ERAD E3 ubiquitin ligase
External IDs	OMIM: 602329; MGI: 1329016; HomoloGene: 31286; GeneCards: SEL1L; OMA:SEL1L - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q31.1 Start 81,471,547 bp[1] End 81,533,853 bp[1]
Gene location (Mouse) Chr. Chromosome 12 (mouse)[2] Band 12|12 D3 Start 91,772,817 bp[2] End 91,815,931 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas epithelium of colon bone marrow cells pericardium decidua cardia pylorus islet of Langerhans jejunal mucosa mucosa of ileum Top expressed in submandibular gland lacrimal gland parotid gland cumulus cell Paneth cell vestibular membrane of cochlear duct pancreas internal carotid artery Rostral migratory stream epithelium of stomach More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component integral component of membrane Hrd1p ubiquitin ligase complex endoplasmic reticulum membrane Derlin-1 retrotranslocation complex membrane endoplasmic reticulum endoplasmic reticulum quality control compartment Hrd1p ubiquitin ligase ERAD-L complex Biological process Notch signaling pathway protein stabilization retrograde protein transport, ER to cytosol ubiquitin-dependent ERAD pathway response to endoplasmic reticulum stress endoplasmic reticulum mannose trimming triglyceride metabolic process protein secretion ERAD pathway transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6400 20338 Ensembl ENSG00000071537 ENSMUSG00000020964 UniProt Q9UBV2 Q9Z2G6 RefSeq (mRNA) NM_001244984 NM_005065 NM_001039089 NM_011344 RefSeq (protein) NP_001231913 NP_005056 NP_001034178 NP_035474 Location (UCSC) Chr 14: 81.47 – 81.53 Mb Chr 12: 91.77 – 91.82 Mb PubMed search [3] [4]
Wikidata
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Clinical relevance

A mutation in this gene in Finnish Hound dogs have been implicated in cases of cerebellar ataxia.^[9] Mutant cells suffer disruptions in their endoplasmic reticula, leading to disease.