SYVN1 (synoviolin 1)

2007-08-01  

Identity

HGNC
SYVN1
LOCATION
11q13.1
LOCUSID
84447
ALIAS
DER3,HRD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84447
MIM: 608046
HGNC: 20738
Ensembl: ENSG00000162298

Variants:

dbSNP: 84447
ClinVar: 84447
TCGA: ENSG00000162298
COSMIC: SYVN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162298ENST00000294256Q86TM6
ENSG00000162298ENST00000307289Q86TM6
ENSG00000162298ENST00000377190Q86TM6
ENSG00000162298ENST00000526060Q86TM6
ENSG00000162298ENST00000527142E9PN88
ENSG00000162298ENST00000528487E9PK19
ENSG00000162298ENST00000531018E9PMA1
ENSG00000162298ENST00000532771H0YCR6

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Protein processing in endoplasmic reticulumKEGGko04141
Protein processing in endoplasmic reticulumKEGGhsa04141
HRD1/SEL1 ERAD complexKEGGhsa_M00403
HRD1/SEL1 ERAD complexKEGGM00403
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
N-glycan trimming in the ER and Calnexin/Calreticulin cycleREACTOMER-HSA-532668
Calnexin/calreticulin cycleREACTOMER-HSA-901042
ER Quality Control Compartment (ERQC)REACTOMER-HSA-901032
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
Hh mutants abrogate ligand secretionREACTOMER-HSA-5387390
Hh mutants that don't undergo autocatalytic processing are degraded by ERADREACTOMER-HSA-5362768
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog ligand biogenesisREACTOMER-HSA-5358346

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
182640922008OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD.229
145931142004Human HRD1 is an E3 ubiquitin ligase involved in degradation of proteins from the endoplasmic reticulum.149
246369852014Hrd1 suppresses Nrf2-mediated cellular protection during liver cirrhosis.89
185027532008Human XTP3-B forms an endoplasmic reticulum quality control scaffold with the HRD1-SEL1L ubiquitin ligase complex and BiP.76
171707022007Cytoplasmic destruction of p53 by the endoplasmic reticulum-resident ubiquitin ligase 'Synoviolin'.65
124594802002Human HRD1 protects against ER stress-induced apoptosis through ER-associated degradation.61
212452962011HRD1 and UBE2J1 target misfolded MHC class I heavy chains for endoplasmic reticulum-associated degradation.59
202372632010Loss of HRD1-mediated protein degradation causes amyloid precursor protein accumulation and amyloid-beta generation.57
205195032010Serine residues in the cytosolic tail of the T-cell antigen receptor alpha-chain mediate ubiquitination and endoplasmic reticulum-associated degradation of the unassembled protein.47
126461712003A novel mammalian endoplasmic reticulum ubiquitin ligase homologous to the yeast Hrd1.44

Citation

Dessen P

SYVN1 (synoviolin 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-08-01

Online version: http://atlasgeneticsoncology.org/gene/47715/syvn1