SEL1L

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Sel-1 suppressor of lin-12-like (C. elegans)
Identifiers
Symbols SEL1L ; PRO1063; SEL1-LIKE; SEL1L1
External IDs OMIM602329 MGI1329016 HomoloGene31286 GeneCards: SEL1L Gene
RNA expression pattern
PBB GE SEL1L 202061 s at tn.png
PBB GE SEL1L 202062 s at tn.png
PBB GE SEL1L 202063 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 6400 20338
Ensembl ENSG00000071537 ENSMUSG00000020964
UniProt Q9UBV2 Q9Z2G6
RefSeq (mRNA) NM_001244984 NM_001039089
RefSeq (protein) NP_001231913 NP_001034178
Location (UCSC) Chr 14:
81.94 – 82 Mb
Chr 12:
91.81 – 91.85 Mb
PubMed search [1] [2]

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

Clinical relevance[edit]

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[edit]

  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. PMID 22719266. 


Further reading[edit]