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    SYVN1 synovial apoptosis inhibitor 1, synoviolin [ Homo sapiens ]

    Gene ID: 84447, updated on 11-May-2012

    Summary

    Official Symbol
    SYVN1provided by HGNC
    Official Full Name
    synovial apoptosis inhibitor 1, synoviolinprovided by HGNC
    Primary source
    HGNC:20738
    See related
    Ensembl:ENSG00000162298; HPRD:07618; MIM:608046; Vega:OTTHUMG00000165607
    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
    HRD1; KIAA1810; MGC40372
    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]

    Genomic context

    Location :
    11q13
    Sequence :
    Chromosome: 11; NC_000011.9 (64894751..64902003, complement)
    See SYVN1 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene zinc finger, HIT-type containing 2 Neighboring gene mitochondrial ribosomal protein L49 Neighboring gene Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed Neighboring gene HIG1 hypoxia inducible domain family, member 1A pseudogene 10 Neighboring gene speedy homolog C (Xenopus laevis)

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q86TM6 P54259 ATN1    HPRD  PubMed  
    Q86TM6 P04637 TP53    HPRD  PubMed  
    Q86TM6 Q93009 USP7    HPRD  PubMed  
    BioGRID:124085 BioGRID:106764 AMFR    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:124085 BioGRID:106848 APP    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:124085 BioGRID:116586 ATF6    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:107019 ATP6AP1    BioGRID  PubMed Biochemical Activity 
    BioGRID:124085 BioGRID:107603 CLU    BioGRID  PubMed Reconstituted Complex 
    BioGRID:124085 BioGRID:122559 DERL1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:124085 BioGRID:119216 DERL2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:115859 ERLIN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:116331 ERLIN2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:108391 ERN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:109119 GPR37    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:124085 BioGRID:115060 HERPUD1    BioGRID  PubMed Affinity Capture-Western; Co-fractionation; Reconstituted Complex 
    BioGRID:124085 BioGRID:109325 HFE    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:109350 HLA-A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:109541 HSPA5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:109314 HTT    BioGRID  PubMed Affinity Capture-Western; Co-localization 
    BioGRID:124085 BioGRID:109727 IGHM    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:122240 PDIA2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:111681 PSMD2    BioGRID  PubMed Co-fractionation 
    BioGRID:124085 BioGRID:112300 SEL1L    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:120934 SELS    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:112344 SGK1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:129222 SVIP    BioGRID  PubMed Affinity Capture-Western; Co-fractionation 
    BioGRID:124085 BioGRID:124085 SYVN1    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:124085 BioGRID:123686 TMUB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:113010 TP53    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:112815 TRA@    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:124085 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:124085 BioGRID:119555 UBE2J1    BioGRID  PubMed Two-hybrid 
    BioGRID:124085 BioGRID:127156 UBE2U    BioGRID  PubMed Two-hybrid 
    BioGRID:124085 BioGRID:122419 UBE2Z    BioGRID  PubMed Two-hybrid 
    BioGRID:124085 BioGRID:113258 VCP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:124085 BioGRID:113304 WFS1    BioGRID  PubMed Affinity Capture-Western 

    General gene information

    Markers

    Homology

    • Homologs of the SYVN1 gene: The SYVN1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, zebrafish, fruit fly, mosquito, C.elegans, , N.crassa, A.thaliana, and rice.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    • Activation of Chaperone Genes by XBP1(S), organism-specific biosystem (from REACTOME)
      Activation of Chaperone Genes by XBP1(S), organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...
    • Activation of Chaperones by IRE1alpha, organism-specific biosystem (from REACTOME)
      Activation of Chaperones by IRE1alpha, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
    • Diabetes pathways, organism-specific biosystem (from REACTOME)
      Diabetes pathways, organism-specific biosystemThis module groups several normal processes that have key roles in the synthesis and function of insulin, insulin-like growth factors and ghrelin, and whose derangement is thus central to the pathoge...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • HRD1/SEL1 ERAD complex, organism-specific biosystem (from KEGG)
      HRD1/SEL1 ERAD complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
    • HRD1/SEL1 ERAD complex, conserved biosystem (from KEGG)
      HRD1/SEL1 ERAD complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Ubiquitin mediated proteolysis, organism-specific biosystem (from KEGG)
      Ubiquitin mediated proteolysis, organism-specific biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Ubiquitin mediated proteolysis, conserved biosystem (from KEGG)
      Ubiquitin mediated proteolysis, conserved biosystemProtein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to protein...
    • Unfolded Protein Response, organism-specific biosystem (from REACTOME)
      Unfolded Protein Response, organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acid-amino acid ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    ER-associated protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activation of signaling protein activity involved in unfolded protein response TAS
    Traceable Author Statement
    more info
     
    anti-apoptosis IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum unfolded protein response TAS
    Traceable Author Statement
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    response to stress IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase synoviolin
    Names
    E3 ubiquitin-protein ligase synoviolin
    NP_115807.1
    NP_757385.1

    NCBI Reference Sequences (RefSeq)

    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
      5001..12253
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032431.2NP_115807.1  E3 ubiquitin-protein ligase synoviolin isoform a precursor

      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, OTTHUMP00000230429, ENST00000294256, OTTHUMT00000385273
      Conserved Domains (2) summary
      cd00162
      Location:291333
      Blast Score: 138
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      COG5243
      Location:10334
      Blast Score: 452
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]
    2. NM_172230.2NP_757385.1  E3 ubiquitin-protein ligase synoviolin isoform b precursor

      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, OTTHUMP00000230430, ENST00000377190, OTTHUMT00000385274
      Conserved Domains (2) summary
      cd00162
      Location:291333
      Blast Score: 138
      RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...
      COG5243
      Location:10334
      Blast Score: 452
      HRD1; HRD ubiquitin ligase complex, ER membrane component [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p5 Primary Assembly

      Range
      64894751..64902003, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      61221343..61228995, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AP003068.3 (87343..94595) None
    genomic CH471076.1 EAW74357.1
      EAW74358.1
      EAW74359.1
      EAW74360.1
      EAW74361.1
      EAW74362.1
    mRNA AA864844.1 None
    mRNA AB058713.1 BAB47439.1
    mRNA AB085847.1 BAC24801.1
    mRNA AF317634.1 AAL26903.1
    mRNA AK074148.1 BAB84974.1
    mRNA AK126912.1 BAG54394.1
    mRNA AL834262.1 CAD38937.1
    mRNA BC013860.1 None
    mRNA BC030530.1 AAH30530.1
    mRNA BC035473.1 None
    mRNA DQ574657.1 None
    other-genetic BC141662.1 AAI41663.1
    other-genetic EU176276.1 ABW03727.1
    other-genetic EU176586.1 ABW03387.1
    other-genetic EU446616.1 ABZ92145.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TM6.2 GenPept UniProtKB/Swiss-Prot:Q86TM6
    Q8TEH6 GenPept UniProtKB/TrEMBL:Q8TEH6

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