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SYVN1

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(Redirected from HRD1)
SYVN1
Identifiers
AliasesSYVN1, DER3, HRD1, synoviolin 1
External IDsOMIM: 608046; MGI: 1921376; HomoloGene: 32700; GeneCards: SYVN1; OMA:SYVN1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032431
NM_172230

NM_001164709
NM_028769

RefSeq (protein)

NP_115807
NP_757385

NP_001158181
NP_083045

Location (UCSC)Chr 11: 65.12 – 65.13 MbChr 19: 6.1 – 6.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

E3 ubiquitin-protein ligase synoviolin is an enzyme that in humans is encoded by the SYVN1 gene.[5][6]

Function

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This gene encodes a protein involved in endoplasmic reticulum (ER)-associated degradation. The encoded protein removes unfolded proteins, accumulated during ER stress, by retrograde transport to the cytosol from the ER. This protein also uses the ubiquitin-proteasome system for additional degradation of unfolded proteins. This gene and the mitochondrial ribosomal protein L49 gene use in their respective 3' UTRs some of the same genomic sequence. Sequence analysis identified two transcript variants that encode different isoforms.[6]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000162298Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000024807Ensembl, 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. ^ Amano T, Yamasaki S, Yagishita N, Tsuchimochi K, Shin H, Kawahara K, Aratani S, Fujita H, Zhang L, Ikeda R, Fujii R, Miura N, Komiya S, Nishioka K, Maruyama I, Fukamizu A, Nakajima T (October 2003). "Synoviolin/Hrd1, an E3 ubiquitin ligase, as a novel pathogenic factor for arthropathy". Genes & Development. 17 (19): 2436–49. doi:10.1101/gad.1096603. PMC 218080. PMID 12975321.
  6. ^ a b "Entrez Gene: SYVN1 synovial apoptosis inhibitor 1, synoviolin".

Further reading

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  • Overview of all the structural information available in the PDB for UniProt: Q86TM6 (E3 ubiquitin-protein ligase synoviolin) at the PDBe-KB.