SEL1L

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SEL1L
Identifiers
Aliases SEL1L, PRO1063, SEL1-LIKE, SEL1L1, SEL1L ERAD E3 ligase adaptor subunit
External IDs MGI: 1329016 HomoloGene: 31286 GeneCards: SEL1L
RNA expression pattern
PBB GE SEL1L 202063 s at fs.png

PBB GE SEL1L 202062 s at fs.png

PBB GE SEL1L 202061 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001244984
NM_005065

NM_001039089
NM_011344

RefSeq (protein)

NP_001231913
NP_005056

NP_001034178.1
NP_035474.1
NP_001034178
NP_035474

Location (UCSC) Chr 14: 81.47 – 81.53 Mb Chr 12: 91.81 – 91.85 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Protein sel-1 homolog 1 is a protein that in humans is encoded by the SEL1L gene.[3][4][5][6]

Clinical relevance[edit]

A mutation in this gene in Finnish Hound dogs have been implicated in cases of cerebellar ataxia.[7] Mutant cells suffer disruptions in their endoplasmic reticula, leading to disease.

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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. 
  6. ^ "Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans)". 
  7. ^ 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 3375262Freely accessible. PMID 22719266. 

Further reading[edit]