Gene Gene information from NCBI Gene database.
Entrez ID 84447
Gene name Synoviolin 1
Gene symbol SYVN1
Synonyms (NCBI Gene)
DER3HRD1
Chromosome 11
Chromosome location 11q13.1
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 ubiquiti
miRNA miRNA information provided by mirtarbase database.
407
miRTarBase ID miRNA Experiments Reference
MIRT016772 hsa-miR-335-5p Microarray 18185580
MIRT052635 hsa-let-7a-5p CLASH 23622248
MIRT048209 hsa-miR-196a-5p CLASH 23622248
MIRT040147 hsa-miR-615-3p CLASH 23622248
MIRT652890 hsa-miR-6819-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0000836 Component Hrd1p ubiquitin ligase complex IDA 28827405
GO:0000836 Component Hrd1p ubiquitin ligase complex TAS 21454652, 23710284
GO:0000839 Component Hrd1p ubiquitin ligase ERAD-L complex IDA 28827405
GO:0000839 Component Hrd1p ubiquitin ligase ERAD-L complex IMP 26471130
GO:0002327 Process Immature B cell differentiation ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608046 20738 ENSG00000162298
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86TM6
Protein name E3 ubiquitin-protein ligase synoviolin (EC 2.3.2.27) (RING-type E3 ubiquitin transferase synoviolin) (Synovial apoptosis inhibitor 1)
Protein function E3 ubiquitin-protein ligase which accepts ubiquitin specifically from endoplasmic reticulum-associated UBC7 E2 ligase and transfers it to substrates, promoting their degradation (PubMed:12459480, PubMed:12646171, PubMed:12975321, PubMed:14593114
PDB 6A3Z , 8KES , 8KET , 8KEV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13639 zf-RING_2 289 330 Ring finger domain Domain
Tissue specificity 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). {ECO:0000269|PubMed:12459480, ECO:0000269|PubMed:12646171,
Sequence
MFRTAVMMAASLALTGAVVAHAYYLKHQFYPTVVYLTKSSPSMAVLYIQAFVLVFLLGKV
MGKVFFGQLRAAEMEHLLERSWYAVTETCLAFTVFRDDFSPRFVALFTLLLFLKCFHWLA
EDRVDFMERSPNISWLFHCRIVSLMFLLGILDFLFVSHAYHSILTRGASVQLVFGFEYAI
LMTMVLTIFIKYVLHSVDLQSENPWDNKAVYMLYTELFTGFIKVLLYMAFMTIMIKVHTF
PLFAIRPMYLAMRQFKKAVTDAIMSRRAIRNMNTLYPDATPEELQAMDNVCIICREEMVT
GAKRLPCNHIFHTSCLRSWFQRQQTCPTCR
MDVLRASLPAQSPPPPEPADQGPPPAPHPP
PLLPQPPNFPQGLLPPFPPGMFPLWPPMGPFPPVPPPPSSGEAVAPPSTSAAALSRPSGA
ATTTAAGTSATAASATASGPGSGSAPEAGPAPGFPFPPPWMGMPLPPPFAFPPMPVPPAG
FAGLTPEELRALEGHERQHLEARLQSLRNIHTLLDAAMLQINQYLTVLASLGPPRPATSV
NSTEETATTVVAAASSTSIPSSEATTPTPGASPPAPEMERPPAPESVGTEEMPEDGEPDA
AELRRRRLQKLESPVAH
Sequence length 617
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis
Protein processing in endoplasmic reticulum
  XBP1(S) activates chaperone genes
Hedgehog ligand biogenesis
Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
ER Quality Control Compartment (ERQC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 20471517
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 20606367 Inhibit
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 12975321
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 21987572 Associate
★☆☆☆☆
Found in Text Mining only
Arthropathy Arthropathy BEFREE 12975321
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 32308114 Inhibit
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28770435
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 27417417, 30306751
★☆☆☆☆
Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE Lymphocytic Leukemia BEFREE 1913607
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28423597
★☆☆☆☆
Found in Text Mining only