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    SYVN1 synoviolin 1 [ Homo sapiens (human) ]

    Gene ID: 84447, updated on 26-Sep-2021

    Summary

    Official Symbol
    SYVN1provided by HGNC
    Official Full Name
    synoviolin 1provided by HGNC
    Primary source
    HGNC:HGNC:20738
    See related
    Ensembl:ENSG00000162298 MIM:608046
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DER3; HRD1
    Summary
    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. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011]
    Expression
    Ubiquitous expression in lymph node (RPKM 27.2), appendix (RPKM 21.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SYVN1 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (65127279..65135178, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64894751..64901990, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3974 Neighboring gene zinc finger HIT-type containing 2 Neighboring gene FAU ubiquitin like and ribosomal protein S30 fusion Neighboring gene mitochondrial ribosomal protein L49 Neighboring gene microRNA 6751 Neighboring gene HIG1 hypoxia inducible domain family member 1A pseudogene 10 Neighboring gene RNA, U2 small nuclear 23, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA1810, MGC40372

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables chaperone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ubiquitin protein ligase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables ubiquitin protein ligase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables ubiquitin-specific protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unfolded protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERAD pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endoplasmic reticulum mannose trimming TAS
    Traceable Author Statement
    more info
     
    involved_in immature B cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein K48-linked ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in retrograde protein transport, ER to cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent ERAD pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within ubiquitin-dependent ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent ERAD pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ubiquitin-dependent ERAD pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase synoviolin
    Names
    HMG-coA reductase degradation 1 homolog
    RING-type E3 ubiquitin transferase synoviolin
    synovial apoptosis inhibitor 1, synoviolin
    NP_115807.1
    NP_757385.1
    XP_011543605.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029713.1 RefSeqGene

      Range
      5014..12253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032431.3NP_115807.1  E3 ubiquitin-protein ligase synoviolin isoform a

      See identical proteins and their annotated locations for NP_115807.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the shorter isoform (a).
      Source sequence(s)
      AA864844, AL834262, BC030530
      Consensus CDS
      CCDS8097.1
      UniProtKB/Swiss-Prot
      Q86TM6
      Related
      ENSP00000294256.8, ENST00000294256.12
      Conserved Domains (3) summary
      COG5243
      Location:10333
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]
      pfam08619
      Location:527610
      Nha1_C; Alkali metal cation/H+ antiporter Nha1 C terminus
      pfam13639
      Location:289330
      zf-RING_2; Ring finger domain
    2. NM_172230.3NP_757385.1  E3 ubiquitin-protein ligase synoviolin isoform b

      See identical proteins and their annotated locations for NP_757385.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses a different splice site than variant 1 and encodes the longer isoform (b).
      Source sequence(s)
      AA864844, AL834262, BC030530
      Consensus CDS
      CCDS31605.1
      UniProtKB/Swiss-Prot
      Q86TM6
      Related
      ENSP00000366395.3, ENST00000377190.8
      Conserved Domains (3) summary
      COG5243
      Location:10333
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]
      pfam08619
      Location:528611
      Nha1_C; Alkali metal cation/H+ antiporter Nha1 C terminus
      pfam13639
      Location:289330
      zf-RING_2; Ring finger domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      65127279..65135178 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545303.3XP_011543605.1  E3 ubiquitin-protein ligase synoviolin isoform X1

      See identical proteins and their annotated locations for XP_011543605.1

      UniProtKB/Swiss-Prot
      Q86TM6
      Conserved Domains (3) summary
      COG5243
      Location:10333
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]
      pfam08619
      Location:528611
      Nha1_C; Alkali metal cation/H+ antiporter Nha1 C terminus
      pfam13639
      Location:289330
      zf-RING_2; Ring finger domain
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