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SEL1L

From Wikipedia, the free encyclopedia

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
View/Edit HumanView/Edit Mouse

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

Clinical relevance

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000071537Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020964Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ 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.
  8. ^ "Entrez Gene: SEL1L sel-1 suppressor of lin-12-like (C. elegans)".
  9. ^ 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

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