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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
 Explore 9 diseases affiliated with
SYVN1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SYVN1    

Aliases
for SYVN1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Synovial Apoptosis Inhibitor 1, Synoviolin1 2     HMG-CoA Reductase Degradation 1 Homolog2
HRD11 2 3 5     EC 6.3.2.-3
DER31 2     Synovial Apoptosis Inhibitor 13
KIAA18103 5     EC 6.3.28
E3 Ubiquitin-Protein Ligase Synoviolin2     

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


Summaries
for SYVN1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
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 plasmid: SYVN1 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

Proteins
for SYVN1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Not N-glycosylated1
  • Auto-ubiquitinated1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals SYVN1 Proteins
    Novus Biologicals SYVN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    ThermoFisher Antibody for SYVN1

    Assay Products for SYVN1: 
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    Uscn ELISAs and CLIAs for SYVN1

    Protein Domains /
    Families
    for SYVN1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SYVN1 for domains           About GeneDecksing

    2 InterPro domains/families:
     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 family: 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


    Function
    for SYVN1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SYVN1
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    hsa-miR-219-1-3p hsa-miR-300 hsa-miR-429 hsa-let-7a-2* hsa-miR-449a hsa-miR-637 hsa-miR-155 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmid: SYVN1 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: SYVN1
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SYVN1

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SYVN1 (see all 5)
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    Cell Line
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    Search LifeMap BioReagents cell lines for SYVN1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SYVN1

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18264092
    GO:0008270zinc ion binding IEA--
    GO:0016881acid-amino acid ligase activity IDA12459480


    SYVN1 for ontologies           About GeneDecksing


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

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

    SYVN1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SYVN1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of Chaperone Genes by XBP1(S)
    		Activation of Chaperone Genes by XBP1(S)1.00
    		Unfolded Protein Response0.71
    		Activation of Chaperones by IRE1alpha0.94
    2Expression of SYVN1 (HRD1)
    		Expression of SYVN1 (HRD1)1.00
    3Protein processing in endoplasmic reticulum
    		Protein processing in endoplasmic reticulum1.00
    4Antigen processing: Ubiquitination & Proteasome degradation
    		Ubiquitin mediated proteolysis0.36
    5Asparagine N-linked glycosylation
    		Metabolism of proteins0.15

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for SYVN1
        Activation of Chaperone Genes by XBP1(S)
    Expression of SYVN1 (HRD1)
    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)

    5/61 Interacting proteins for SYVN1 (Q86TM62, 3 ENSP000003663954) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

    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
    ATN1P542592, 3, ENSP000003490764MINT-2877182 I2D: score=3 STRING: ENSP00000349076
    USP7Q930092, 3, ENSP000003435354MINT-2877201 I2D: score=3 STRING: ENSP00000343535
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    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



    Drugs & Compounds
    for SYVN1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    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 

    Transcripts
    for SYVN1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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.743969  [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

    miRNA
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    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate SYVN1 (see all 47):
    hsa-miR-219-1-3p hsa-miR-300 hsa-miR-429 hsa-let-7a-2* hsa-miR-449a hsa-miR-637 hsa-miR-155 hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmid: SYVN1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

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

    20 DOTS entries:

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

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

    D28403 CD369978 F28726 AW161249 AW204418 BQ216442 AA312437 BU728158 
    BU727809 AA301574 BU944750 AW135686 BU839015 AJ705382 BP429395 BE793162 
    AW614512 BU162001 BU727754 BQ937223 BQ421492 AB058713 BM798316 AB085847 

    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

    Expression
    for SYVN1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGCAGAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SYVN1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneThoracic RibBone
    HeartOutflow TractHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.743969

    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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              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    Orthologs
    for SYVN1 gene

    (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 7/31 species (see all 31)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia SYVN16
    		 --
    		 78(a)
    		 1 ↔ 1
    		 GL344144.1(48730-66140)
    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 
    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
    for SYVN1 gene

    (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



    Genomic Variants
    for SYVN1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/145 NCBI SNPs in SYVN1 are shown (see all 145)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1165464551,2
    		C,F,--61222398(+) AGGGGT/CGGGCC 2 -- ut311Minor allele frequency- C:0.07WA 118
    rs1128925081,2
    		F--61222642(+) TGACCC/TGAGAT 2 -- ut312Minor allele frequency- T:0.50CSA 4
    rs341780131,2
    		C,F--61224808(+) AACATG/TCCTGG 4 G syn12Minor allele frequency- T:0.00NA 4008
    rs113961251,2
    		C--61225351(+) GTGCCC/-TGCTG 2 -- int13Minor allele frequency- -:0.00NA CSA 10
    rs1137781701,2
    		C--61225382(+) TCCCAG/CCTGGT 2 -- spd11Minor allele frequency- C:0.00CSA 1
    rs2007645601,2
    		C--61227736(-) AAACCA/CCAGCC 2 -- int10--------
    rs734772141,2
    		C,F,--61227865(+) GCCCCG/ACCCCT 2 -- int13Minor allele frequency- A:0.06WA CSA 122
    rs734772171,2
    		C,--61228611(+) GGGGTT/CCCCCG 2 -- int12Minor allele frequency- C:0.33WA CSA 3
    rs1122493031,2
    		--61228812(+) CAGGCA/CGAAAG 2 -- int12Minor allele frequency- C:0.33CSA 3
    rs1139066781,2
    		F--61228939(+) GCGAGC/TCCGCT 2 -- ut512Minor allele frequency- T:0.50CSA 4

    HapMap Linkage Disequilibrium report for SYVN1 (64889252 - 64902004 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SYVN1: --

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    Disorders / Diseases
    for SYVN1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SYVN1 for disorders           About GeneDecksing

    OMIM gene information: 608046    OMIM disorders: --

    9 diseases for SYVN1:    About MalaCards
    wolfram syndrome    arthropathy    rheumatoid arthritis    neurodegenerative disease
    cholera    arthritis    ataxia    malaria
    neuronitis


    Export disorders for SYVN1 gene to outside databases

    Publications
    for SYVN1 gene

    (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 74):
    (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)

    External Searches for SYVN1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
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    Genome Databases showing SYVN1 gene

    (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

    Other Databases showing SYVN1 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1810

    Specialized Databases showing SYVN1 gene

    (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

    Intellectual Property
    for SYVN1 gene

    (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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