Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SYVN1 Gene

Aliases for SYVN1 Gene

  • Synoviolin 1 2 3 5
  • Synovial Apoptosis Inhibitor 1, Synoviolin 2 3
  • HRD1 3 4
  • HMG-CoA Reductase Degradation 1 Homolog (S. Cerevisiae) 2
  • HMG-CoA Reductase Degradation 1 Homolog 3
  • Synovial Apoptosis Inhibitor 1 4
  • EC 6.3.2.- 4
  • KIAA1810 4
  • EC 6.3.2 63
  • DER3 3

External Ids for SYVN1 Gene

Previous GeneCards Identifiers for SYVN1 Gene

  • GC11M064651
  • GC11M064894
  • GC11M061221

Summaries for SYVN1 Gene

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 (Synoviolin 1) is a Protein Coding gene. Diseases associated with SYVN1 include wolfram syndrome. Among its related pathways are Signaling by GPCR and Transport to the Golgi and subsequent modification. GO annotations related to this gene include ubiquitin protein ligase activity and acid-amino acid ligase activity. An important paralog of this gene is RNF145.

UniProtKB/Swiss-Prot for SYVN1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SYVN1 Gene

Genomics for SYVN1 Gene

Regulatory Elements for SYVN1 Gene

Promoters for SYVN1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SYVN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for SYVN1 Gene

Chromosome:
11
Start:
65,121,780 bp from pter
End:
65,135,178 bp from pter
Size:
13,399 bases
Orientation:
Minus strand

Genomic View for SYVN1 Gene

Genes around SYVN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYVN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYVN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYVN1 Gene

Proteins for SYVN1 Gene

  • Protein details for SYVN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86TM6-SYVN1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase synoviolin
    Protein Accession:
    Q86TM6
    Secondary Accessions:
    • Q8N3K3
    • Q8N6E8
    • Q96JL5
    • Q96PK3

    Protein attributes for SYVN1 Gene

    Size:
    617 amino acids
    Molecular mass:
    67685 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAB47439.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SYVN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYVN1 Gene

Proteomics data for SYVN1 Gene at MOPED

Post-translational modifications for SYVN1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SYVN1 (SYVN1)

Domains & Families for SYVN1 Gene

Gene Families for SYVN1 Gene

Protein Domains for SYVN1 Gene

Suggested Antigen Peptide Sequences for SYVN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86TM6

UniProtKB/Swiss-Prot:

SYVN1_HUMAN :
  • The RING-type zinc finger is required for E3 ligase activity.
  • Belongs to the HRD1 family.
  • Contains 1 RING-type zinc finger.
Domain:
  • The RING-type zinc finger is required for E3 ligase activity.
Family:
  • Belongs to the HRD1 family.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with SYVN1: view

Function for SYVN1 Gene

Molecular function for SYVN1 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By endoplasmic reticulum stress-inducing agents such as thapsigargin, tunicamycin or brefeldin A, but not by heat shock.

Enzyme Numbers (IUBMB) for SYVN1 Gene

Gene Ontology (GO) - Molecular Function for SYVN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051117 ATPase binding IPI 16186510
GO:0061630 ubiquitin protein ligase activity TAS 23710284
genes like me logo Genes that share ontologies with SYVN1: view
genes like me logo Genes that share phenotypes with SYVN1: view

Animal Models for SYVN1 Gene

MGI Knock Outs for SYVN1:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SYVN1 Gene

Localization for SYVN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYVN1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SYVN1 Gene COMPARTMENTS Subcellular localization image for SYVN1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 5
plasma membrane 3
cytosol 2

Gene Ontology (GO) - Cellular Components for SYVN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030176 integral component of endoplasmic reticulum membrane NAS 14593114
GO:0044322 endoplasmic reticulum quality control compartment TAS 21062743
genes like me logo Genes that share ontologies with SYVN1: view

Pathways & Interactions for SYVN1 Gene

genes like me logo Genes that share pathways with SYVN1: view

Pathways by source for SYVN1 Gene

UniProtKB/Swiss-Prot Q86TM6-SYVN1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for SYVN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding TAS --
GO:0016567 protein ubiquitination TAS 23710284
GO:0018279 protein N-linked glycosylation via asparagine IMP,TAS 22607976
GO:0030968 endoplasmic reticulum unfolded protein response IBA,TAS --
GO:1904380 endoplasmic reticulum mannose trimming TAS --
genes like me logo Genes that share ontologies with SYVN1: view

No data available for SIGNOR curated interactions for SYVN1 Gene

Drugs & Compounds for SYVN1 Gene

(3) Drugs for SYVN1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for SYVN1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with SYVN1: view

Transcripts for SYVN1 Gene

Unigene Clusters for SYVN1 Gene

Synovial apoptosis inhibitor 1, synoviolin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SYVN1 Gene

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: - -
SP6: - - -
SP7: -
SP8:
SP9:
SP10: - - -
SP11:
SP12:
SP13:

ExUns: 15a · 15b · 15c · 15d · 15e ^ 16
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9: - -
SP10:
SP11:
SP12: -
SP13:

Relevant External Links for SYVN1 Gene

GeneLoc Exon Structure for
SYVN1
ECgene alternative splicing isoforms for
SYVN1

Expression for SYVN1 Gene

mRNA expression in normal human tissues for SYVN1 Gene

Protein differential expression in normal tissues from HIPED for SYVN1 Gene

This gene is overexpressed in Nasal epithelium (44.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SYVN1 Gene



SOURCE GeneReport for Unigene cluster for SYVN1 Gene Hs.75859

mRNA Expression by UniProt/SwissProt for SYVN1 Gene

Q86TM6-SYVN1_HUMAN
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).
genes like me logo Genes that share expression patterns with SYVN1: view

Protein tissue co-expression partners for SYVN1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for SYVN1 Gene

Orthologs for SYVN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SYVN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYVN1 36
  • 98 (a)
OneToOne
SYVN1 35
  • 98.59 (n)
  • 98.53 (a)
cow
(Bos Taurus)
Mammalia SYVN1 35
  • 93.64 (n)
  • 99.05 (a)
SYVN1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SYVN1 36
  • 75 (a)
OneToOne
SYVN1 35
  • 91.82 (n)
  • 94.6 (a)
mouse
(Mus musculus)
Mammalia Syvn1 16
Syvn1 36
  • 96 (a)
OneToOne
Syvn1 35
  • 89.63 (n)
  • 94.93 (a)
oppossum
(Monodelphis domestica)
Mammalia SYVN1 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYVN1 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Syvn1 35
  • 88.83 (n)
  • 94.39 (a)
chicken
(Gallus gallus)
Aves SYVN1 36
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYVN1 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10714 35
syvn1 35
  • 69.4 (n)
  • 77.82 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10009 35
zebrafish
(Danio rerio)
Actinopterygii syvn1 36
  • 68 (a)
OneToOne
Dr.3405 35
syvn1 35
  • 75.54 (n)
  • 85.9 (a)
fruit fly
(Drosophila melanogaster)
Insecta sip3 36
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea sel-11 35
  • 52.86 (n)
  • 52.42 (a)
sel-11 36
  • 44 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD1 36
  • 18 (a)
OneToMany
HRD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G16090 35
  • 51.98 (n)
  • 44.68 (a)
rice
(Oryza sativa)
Liliopsida Os06g0301000 35
  • 52.35 (n)
  • 42.34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 55 (a)
OneToOne
Species with no ortholog for SYVN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SYVN1 Gene

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

Paralogs for SYVN1 Gene

Paralogs for SYVN1 Gene

(1) SIMAP similar genes for SYVN1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SYVN1: view

Variants for SYVN1 Gene

Sequence variations from dbSNP and Humsavar for SYVN1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1196045 -- 65,135,267(+) GAACG(C/T)TTGCC upstream-variant-2KB
rs9971546 -- 65,129,260(+) ACTTA(C/T)GAATA intron-variant
rs10895986 -- 65,134,531(+) CACCC(A/C)CTGCG utr-variant-5-prime
rs12283219 -- 65,136,164(+) TTTAC(A/C)TGATG upstream-variant-2KB
rs56306842 -- 65,135,268(+) AACGT(C/T)TGCCG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for SYVN1 Gene

Variant ID Type Subtype PubMed ID
nsv526181 CNV Gain 19592680
dgv1174n71 CNV Loss 21882294

Variation tolerance for SYVN1 Gene

Residual Variation Intolerance Score: 35.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.55; 72.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SYVN1 Gene

HapMap Linkage Disequilibrium report
SYVN1
Human Gene Mutation Database (HGMD)
SYVN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYVN1 Gene

Disorders for SYVN1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SYVN1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
wolfram syndrome
  • diabetes mellitus and insipidus with optic atrophy and deafness
- elite association - COSMIC cancer census association via MalaCards
Search SYVN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SYVN1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SYVN1
genes like me logo Genes that share disorders with SYVN1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SYVN1 Gene

Publications for SYVN1 Gene

  1. Synoviolin/Hrd1, an E3 ubiquitin ligase, as a novel pathogenic factor for arthropathy. (PMID: 12975321) Amano T. … Nakajima T. (Genes Dev. 2003) 2 3 4 67
  2. Loss of HRD1-mediated protein degradation causes amyloid precursor protein accumulation and amyloid-beta generation. (PMID: 20237263) Kaneko M. … Nomura Y. (J. Neurosci. 2010) 3 23
  3. A different pathway in the endoplasmic reticulum stress-induced expression of human HRD1 and SEL1 genes. (PMID: 17967421) Kaneko M. … Nomura Y. (FEBS Lett. 2007) 3 23
  4. A ubiquitin ligase HRD1 promotes the degradation of Pael receptor, a substrate of Parkin. (PMID: 17059562) Omura T. … Nomura Y. (J. Neurochem. 2006) 3 23
  5. The ubiquitin-domain protein HERP forms a complex with components of the endoplasmic reticulum associated degradation pathway. (PMID: 16289116) Schulze A. … Seeger M. (J. Mol. Biol. 2005) 3 23

Products for SYVN1 Gene

Sources for SYVN1 Gene

Back to Top

Content