SEL1L

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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

AliasesSEL1L, PRO1063, SEL1-LIKE, SEL1L1, SEL1L ERAD E3 ligase adaptor subunit, ERAD E3 ligase adaptor subunit, Hrd3, SEL1L adaptor subunit of ERAD E3 ubiquitin ligase
End81,533,853 bp[1]
Quick facts Identifiers, Aliases ...
SEL1L
Identifiers
AliasesSEL1L, 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 IDsOMIM: 602329; MGI: 1329016; HomoloGene: 31286; GeneCards: SEL1L; OMA:SEL1L - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 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.

References

Further reading

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