SEL1L

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VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Protein sel-1 homolog 1 is a protein that in humans is encoded by the SEL1L gene.[1][2][3][4]

Clinical relevance

A mutation in this gene in Finnish Hound dogs have been implicated in cases of cerebellar ataxia.[5] Mutant cells suffer disruptions in their endoplasmic reticula, leading to disease.

References

  1. Biunno I, Appierto V, Cattaneo M, Leone BE, Balzano G, Socci C, Saccone S, Letizia A, Della Valle G, Sgaramella V (Feb 1998). "Isolation of a pancreas-specific gene located on human chromosome 14q31: expression analysis in human pancreatic ductal carcinomas". Genomics. 46 (2): 284–6. doi:10.1006/geno.1997.5018. PMID 9417916.
  2. Donoviel DB, Bernstein A (Apr 1999). "SEL-1L maps to human chromosome 14, near the insulin-dependent diabetes mellitus locus 11". Genomics. 56 (2): 232–3. doi:10.1006/geno.1998.5534. PMID 10051412.
  3. Biunno I, Cattaneo M, Orlandi R, Canton C, Biagiotti L, Ferrero S, Barberis M, Pupa SM, Scarpa A, Ménard S (May 2006). "SEL1L a multifaceted protein playing a role in tumor progression". J Cell Physiol. 208 (1): 23–38. doi:10.1002/jcp.20574. PMID 16331677.
  4. "Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans)".
  5. Kyöstilä K, Cizinauskas S, Seppälä EH, Suhonen E, Jeserevics J, Sukura A, Syrjä P, Lohi H (2012). "A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery". PLoS Genetics. 8 (6): e1002759. doi:10.1371/journal.pgen.1002759. PMC 3375262. PMID 22719266.

Further reading