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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SYVN1 Gene

protein-coding   GIFtS: 60
GCID: GC11M064894

Synovial Apoptosis Inhibitor 1, Synoviolin

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Synovial Apoptosis Inhibitor 1, Synoviolin1 2     E3 Ubiquitin-Protein Ligase Synoviolin2
HRD12 3 5     HMG-CoA Reductase Degradation 1 Homolog2
KIAA18103 5     EC 6.3.2.-3
HMG-CoA Reductase Degradation 1 Homolog (S. Cerevisiae)1     Synovial Apoptosis Inhibitor 13
DER32     EC 6.3.28

External Ids:    HGNC: 207381   Entrez Gene: 844472   Ensembl: ENSG000001622987   OMIM: 6080465   UniProtKB: Q86TM63   

Export aliases for SYVN1 gene to outside databases

Previous GC identifers: GC11M064651 GC11M061221


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SYVN1 Gene:
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)

GeneCards Summary for SYVN1 Gene: 
SYVN1 (synovial apoptosis inhibitor 1, synoviolin) is a protein-coding gene. Diseases associated with SYVN1 include wolfram syndrome, and arthropathy, and among its related super-pathways are Activation of Chaperones by IRE1alpha and Antigen processing: Ubiquitination & Proteasome degradation. GO annotations related to this gene include zinc ion binding and acid-amino acid ligase activity. An important paralog of this gene is AMFR.

UniProtKB/Swiss-Prot: SYVN1_HUMAN, Q86TM6
Function: Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic
reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation. Component of the
endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in
ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Also promotes the degradation of
normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects
neurons from apoptosis induced by polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 by promoting their
degradation. Sequesters p53/TP53 in the cytoplasm and promotes its degradation, thereby negatively regulating its
biological function in transcription, cell cycle regulation and apoptosis

Gene Wiki entry for SYVN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SYVN1 gene promoter:
         GR   AP-1   GR-beta   ATF-2   FOXO4   c-Jun   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSYVN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SYVN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SYVN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

SYVN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SYVN1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064894:  view genomic region     (about GC identifiers)

Start:
64,889,252 bp from pter      End:
64,902,004 bp from pter
Size:
12,753 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SYVN1_HUMAN, Q86TM6 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase synoviolin precursor  
Size: 617 amino acids; 67685 Da
Subunit: Homodimer. Interacts with p53/TP53 and HTT. Interacts with VCP, HERPUD1 and DERL1. Part of a complex
containing SYVN1, HERPUD1, VIMP and DERL1; which probably transfer misfolded proteins from the ER to VCP. Part of
a complex containing SYVN1, SEL1L and DERL2. Interacts with UBXN6. Interacts with SEL1L; recruits ERLEC1 and OS9.
May form a complex with ERLEC1; HSPA5; OS9 AND SEL1L
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAB47439.1; Type=Erroneous initiation;
Secondary accessions: Q8N3K3 Q8N6E8 Q96JL5 Q96PK3
Alternative splicing: 3 isoforms:  Q86TM6-1   Q86TM6-2   Q86TM6-3   

Explore the universe of human proteins at neXtProt for SYVN1: NX_Q86TM6

Explore proteomics data for SYVN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Not N-glycosylated
  • UniProtKB: Auto-ubiquitinated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86TM6

  • 4/11 DME Specific Peptides for SYVN1 (Q86TM6) (see all 11)
     KCFHWLA  PRFVALFT  RVDFMERSP  LYIQAFVLVFLLGK 

    SYVN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SYVN1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_115807.1  NP_757385.1  

    ENSEMBL proteins: 
     ENSP00000294256   ENSP00000366395   ENSP00000302035   ENSP00000436984   ENSP00000431215  
     ENSP00000432166   ENSP00000432888   ENSP00000431720  
    Reactome Protein details: Q86TM6
    Human Recombinant Protein Products for SYVN1: 
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    Cloud-Clone Corp. Proteins for SYVN1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--

    SYVN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RNF: RING-type (C3HC4) zinc fingers

    2 InterPro protein domains:
     IPR001841 Znf_RING
     IPR013083 Znf_RING/FYVE/PHD

    Graphical View of Domain Structure for InterPro Entry Q86TM6

    ProtoNet protein and cluster: Q86TM6

    1 Blocks protein domain: IPB001841 Zn-finger

    UniProtKB/Swiss-Prot: SYVN1_HUMAN, Q86TM6
    Domain: The RING-type zinc finger is required for E3 ligase activity
    Similarity: Belongs to the HRD1 family
    Similarity: Contains 1 RING-type zinc finger


    SYVN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYVN1_HUMAN, Q86TM6
    Function: Acts as an E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic
    reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation. Component of the
    endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in
    ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. Also promotes the degradation of
    normal but naturally short-lived proteins such as SGK. Protects cells from ER stress-induced apoptosis. Protects
    neurons from apoptosis induced by polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 by promoting their
    degradation. Sequesters p53/TP53 in the cytoplasm and promotes its degradation, thereby negatively regulating its
    biological function in transcription, cell cycle regulation and apoptosis
    Induction: By endoplasmic reticulum stress-inducing agents such as thapsigargin, tunicamycin or brefeldin A, but
    not by heat shock

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17170702
    GO:0008270zinc ion binding IEA--
    GO:0016881acid-amino acid ligase activity IDA12459480
    GO:0046872metal ion binding ----
         
    SYVN1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SYVN1:
     Decreased viability of wild-ty 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Syvn1):
     cellular  immune system  mortality/aging  skeleton 

    SYVN1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SYVN1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SYVN1 
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    SwitchGear 3'UTR luciferase reporter plasmidSYVN1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SYVN1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperones by IRE1alpha0.94
    Unfolded Protein Response0.76
    Activation of Chaperone Genes by XBP1(S)0.94
    2Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36
    3Asparagine N-linked glycosylation
    Metabolism of proteins0.35
    4Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum
    5Protein Stability
    Protein Stability

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for SYVN1
        Translational Control
    Protein Stability

    4        Reactome Pathways for SYVN1
        Activation of Chaperone Genes by XBP1(S)
    Metabolism of proteins
    Activation of Chaperones by IRE1alpha
    Unfolded Protein Response


    2         Kegg Pathways  (Kegg details for SYVN1):
        Ubiquitin mediated proteolysis
    Protein processing in endoplasmic reticulum

    UniProtKB/Swiss-Prot: SYVN1_HUMAN, Q86TM6
    Pathway: Protein modification; protein ubiquitination


    SYVN1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SYVN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/63 Interacting proteins for SYVN1 (Q86TM62, 3 ENSP000003663954) via UniProtKB, MINT, STRING, and/or I2D (see all 63)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TP53P046372, 3, ENSP000002693054MINT-4052135 MINT-4052116 MINT-4052176 MINT-4052187 MINT-4052156 I2D: score=3 STRING: ENSP00000269305
    ERN1O754602, 3, ENSP000004014454MINT-6543145 MINT-6543119 I2D: score=3 STRING: ENSP00000401445
    VCPP550722, 3, ENSP000003517774MINT-7904005 MINT-7903973 I2D: score=1 STRING: ENSP00000351777
    ENSG00000224320P304433I2D: score=1 
    ENSG00000229215P304433I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development IEA--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0016567protein ubiquitination IEA--
    GO:0018279protein N-linked glycosylation via asparagine IMP--
    GO:0030433ER-associated protein catabolic process IMP--

    SYVN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SYVN1

    4 HMDB Compounds for SYVN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    Search CenterWatch for drugs/clinical trials and news about SYVN1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SYVN1 gene (2 alternative transcripts): 
    NM_032431.2  NM_172230.2  

    Unigene Cluster for SYVN1:

    Synovial apoptosis inhibitor 1, synoviolin
    Hs.75859  [show with all ESTs]
    Unigene Representative Sequence: NM_172230
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000530451 ENST00000294256(uc001odc.3 uc009yqc.3) ENST00000377190(uc001odb.3)
    ENST00000307289 ENST00000449943 ENST00000526060 ENST00000527765 ENST00000526121
    ENST00000531018 ENST00000532771 ENST00000529207 ENST00000527142 ENST00000528487
    ENST00000525874 ENST00000533685

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    Additional mRNA sequence: 

    AB085847.1 AF317634.1 AK126912.1 AL834262.1 BC013860.1 BC030530.1 BC035473.1 

    23 DOTS entries:

    DT.449206  DT.91780139  DT.100877663  DT.92451615  DT.86854286  DT.100877666  DT.120709118  DT.101985422 
    DT.95147252  DT.100877668  DT.120709044  DT.120709109  DT.437497  DT.91737952  DT.95191477  DT.100742944 
    DT.120709013  DT.120709077  DT.100877655  DT.120709130  DT.92451613  DT.92451625  DT.95242444 

    24/1565 AceView cDNA sequences (see all 1565):

    T39406 AA720606 BQ707703 BP428786 AA374599 C05584 AA159368 BI855811 
    BU857101 BM665036 BQ711914 AA907790 CB109581 AA662652 BQ677803 BE909324 
    BU157905 AA235500 BG153852 AB058713 BG027856 BM672459 BQ071795 CF130216 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SYVN1 (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c ^ 13 ^ 14 ^
    SP1:                                -                                   -     -                                                                                 
    SP2:                                                                    -     -                                                                                 
    SP3:                                -                                   -     -     -     -                                                                     
    SP4:                                -     -                             -     -                                                                                 
    SP5:                                                                    -     -                                                                                 

    ExUns: 15a · 15b · 15c · 15d · 15e ^ 16
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for SYVN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SYVN1 expression in normal human tissues (normalized intensities)      SYVN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGCAGAAG
    SYVN1 Expression
    About this image


    SYVN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/28 selected tissues (see all 28) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
             b cells   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             ileum   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   

    See SYVN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SYVN1

    SOURCE GeneReport for Unigene cluster: Hs.75859

    UniProtKB/Swiss-Prot: SYVN1_HUMAN, Q86TM6
    Tissue specificity: Ubiquitously expressed, with highest levels in liver and kidney (at protein level).
    Up-regulated in synovial tissues from patients with rheumatoid arthritis (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Arrays including SYVN1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
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              Ubiquitin Ligases in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SYVN1 gene from 10/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Syvn11 , 5 synovial apoptosis inhibitor 1, synoviolin1, 5 90.56(n)1
    96.07(a)1
      19 (4.34 cM)5
    741261  NM_028769.51  NP_083045.41 
     60465765 
    chicken
    (Gallus gallus)
    Aves --
    --
    --
    5(a)
    41(a)
    possible ortholog
    possible ortholog
    AADN03015233.1(21-2454)
    JH375709.1(7029-14220)
    lizard
    (Anolis carolinensis)
    Reptilia SYVN16
    synovial apoptosis inhibitor 1, synoviolin
    79(a)
    1 ↔ 1
    GL344144.1(44071-66729)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ062445.12   -- 78.72(n)    BJ062445.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.34052 Danio rerio mRNA similar to HRD1 protein (cDNA clone more 79.74(n)    BC044465.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta sip31 septin interacting protein 3 59.56(n)
    52.04(a)
      43747  NM_143637.4  NP_651894.3 
    worm
    (Caenorhabditis elegans)
    Secernentea sel-111 Protein SEL-11 48.26(n)
    45.13(a)
      179612  NM_073568.3  NP_505969.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HRD1(YOL013C)4 Ubiquitin-protein ligase required for endoplasmic reticulum-associated more   --   15(303035-301380) 854149  NP_014630.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G160901 ubiquitin-protein ligase synoviolin 51.6(n)
    44.61(a)
      820854  NM_112479.2  NP_188230.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g03010001 hypothetical protein 49.21(n)
    38.92(a)
      4340826  NM_001063989.1  NP_001057454.1 


    ENSEMBL Gene Tree for SYVN1 (if available)
    TreeFam Gene Tree for SYVN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SYVN1 gene
    AMFR2  RNF1392  RNF1452  
    1 SIMAP similar gene for SYVN1 using alignment to 5 protein entries:     SYVN1_HUMAN (see all proteins):
    FLJ00221

    SYVN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/250 SNPs in SYVN1 are shown (see all 250)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2007615811,2
    C--64813884(-) TGAGTC/TCCCAG 2 -- ds50010--------
    rs1420256131,2
    --64814097(+) CTTTCA/GGTTCC 2 -- ds50010--------
    rs1826002091,2
    C--64814110(+) ACTCCC/TCAACT 2 -- ds50010--------
    rs1143035451,2
    C,F--64814160(+) CTTCTC/GTGTGT 2 -- ds50011Minor allele frequency- G:0.05WA 118
    rs1865727471,2
    --64814164(+) TCTGTC/GTGTAA 2 -- ds50010--------
    rs1506088111,2
    --64814311(+) TTGATC/TGATTC 2 -- ds50010--------
    rs1919335791,2
    --64814389(+) AAAATG/TTGTAC 2 -- ut310--------
    rs1133322151,2
    C--64814568(+) TCCCGG/AGATTA 2 -- ut312Minor allele frequency- A:0.03CSA WA 120
    rs789862111,2
    C,F--64814640(+) TTCTAA/CACTTC 2 -- ut311Minor allele frequency- C:0.14WA 118
    rs115452291,2
    C--64814692(+) GGATTA/GCAGTG 2 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for SYVN1 (64889252 - 64902004 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SYVN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1174n71CNV Loss21882294
    nsv526181CNV Gain19592680

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608046    OMIM disorders: --

    6 diseases for SYVN1:    About MalaCards
    wolfram syndrome    arthropathy    cholera    rheumatoid arthritis
    arthritis    neuronitis


    SYVN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Export disorders for SYVN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SYVN1 gene, integrated from 9 sources (see all 78):
    (articles sorted by number of sources associating them with SYVN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Synoviolin/Hrd1, an E3 ubiquitin ligase, as a novel pathogenic factor for arthropathy. (PubMed id 12975321)1, 2, 3 Amano T....Nakajima T. (2003)
    2. A ubiquitin ligase HRD1 promotes the degradation of Pael receptor, a substrate of Parkin. (PubMed id 17059562)1, 2, 9 Omura T.... Nomura Y. (2006)
    3. The ubiquitin-domain protein HERP forms a complex with components of the endoplasmic reticulum associated degradation pathway. (PubMed id 16289116)1, 2, 9 Schulze A.... Seeger M. (2005)
    4. OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD. (PubMed id 18264092)1, 2 Christianson J.C.... Kopito R.R. (2008)
    5. Human XTP3-B forms an endoplasmic reticulum quality control scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP. (PubMed id 18502753)1, 2 Hosokawa N.... Nagata K. (2008)
    6. Ubiquitin ligase Hrd1 enhances the degradation and suppresses the toxicity of polyglutamine-expanded huntingtin. (PubMed id 17141218)1, 2 Yang H.... Fang S. (2007)
    7. Cytoplasmic destruction of p53 by the endoplasmic reticulum-resident ubiquitin ligase 'Synoviolin'. (PubMed id 17170702)1, 2 Yamasaki S.... Nakajima T. (2007)
    8. An amphipathic helix targets serum and glucocorticoid-induced kinase 1 to the endoplasmic reticulum-associated ubiquitin-conjugation machinery. (PubMed id 16847254)1, 2 Arteaga M.F.... Canessa C.M. (2006)
    9. Recruitment of the p97 ATPase and ubiquitin ligases to the site of retrotranslocation at the endoplasmic reticulum membrane. (PubMed id 16186510)1, 2 Ye Y....Rapoport T.A. (2005)
    10. Multiprotein complexes that link dislocation, ubiquitination, and extraction of misfolded proteins from the endoplasmic reticulum membrane. (PubMed id 16186509)1, 2 Lilley B.N. and Ploegh H.L. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84447 HGNC: 20738 AceView: FAUandZNHIT2andSYVN1 Ensembl:ENSG00000162298 euGenes: HUgn84447
    ECgene: SYVN1 Kegg: 84447 H-InvDB: SYVN1

    (According to HUGE)
    About This Section
    HUGE: KIAA1810

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SYVN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SYVN1 gene:
    Search GeneIP for patents involving SYVN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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