SYVN1 - synoviolin 1 Gene

Also Known as DER3; HRD1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 84447

About SYVN1

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:65,127,279-65,134,519 (from NCBI)

This gene has 15 transcripts (splice variants), 207 orthologues and 4 paralogues. Ubiquitous expression in lymph node (RPKM 27.2), appendix (RPKM 21.7) and 25 other tissues.

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 ubiquitin-proteasome system for additional degradation of unfolded proteins. Sequence analysis identified two transcript variants that encode different isoforms. [provided by RefSeq, May 2011]

SYVN1 Products (2)

mRNA Protein Name
NM_032431.3 NP_115807.1 E3 ubiquitin-protein ligase synoviolin isoform a
NM_172230.3 NP_757385.1 E3 ubiquitin-protein ligase synoviolin isoform b
Molecular Function GO Annotation Evidence Références Source
enables ATPase binding IPI
IPI: Inferred from physical interaction
16186510 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
17170702 GOA
enables protein-folding chaperone binding IPI
IPI: Inferred from physical interaction
21636303 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
12459480 GOA
enables ubiquitin protein ligase activity IMP
IMP: Inferred from mutant phenotype
21245296 GOA
enables ubiquitin-specific protease binding IPI
IPI: Inferred from physical interaction
22590560 GOA
enables unfolded protein binding IPI
IPI: Inferred from physical interaction
17059562 GOA
Biological Process GO Annotation Evidence Références Source
involved in ERAD pathway IDA
IDA: Inferred from direct assay
12459480 GOA
acts upstream of or within ERAD pathway IMP
IMP: Inferred from mutant phenotype
21245296 GOA
involved in ERAD pathway IMP
IMP: Inferred from mutant phenotype
22607976 GOA
involved in negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IDA
IDA: Inferred from direct assay
12459480 GOA
involved in protein K48-linked ubiquitination IDA
IDA: Inferred from direct assay
14593114 GOA
involved in protein stabilization IMP
IMP: Inferred from mutant phenotype
21454652 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
12459480 GOA
involved in retrograde protein transport, ER to cytosol IMP
IMP: Inferred from mutant phenotype
25660456 GOA
involved in ubiquitin-dependent protein catabolic process IDA
IDA: Inferred from direct assay
14593114 GOA
Cellular Component GO Annotation Evidence Références Source
part of Derlin-1 retrotranslocation complex IDA
IDA: Inferred from direct assay
21454652 GOA
part of Hrd1p ubiquitin ligase ERAD-L complex IDA
IDA: Inferred from direct assay
28827405 GOA
part of Hrd1p ubiquitin ligase ERAD-L complex IMP
IMP: Inferred from mutant phenotype
26471130 GOA
is active in endoplasmic reticulum IDA
IDA: Inferred from direct assay
37795761 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
12459480 GOA
located in endoplasmic reticulum quality control compartment IDA
IDA: Inferred from direct assay
23233672 GOA
located in smooth endoplasmic reticulum IDA
IDA: Inferred from direct assay
16186510 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SYVN1 Protein Structure

zf-RING_2

zf-RING_2: Ring finger domain (290 - 330)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 617 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase synoviolin

  • HMG-coA reductase degradation 1 homolog

SYVN1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
SYVN1 Q86TM6 USP15 Homo sapiens Q9Y4E8 31477895
Intra
SYVN1 Q86TM6 USP15 Homo sapiens Q9Y4E8 31477895
Intra
SYVN1 Q86TM6 USP15 Homo sapiens Q9Y4E8 31477895
Intra
SYVN1 Q86TM6 USP15 Homo sapiens Q9Y4E8 31477895
Intra
SYVN1 Q86TM6 USP15 Homo sapiens Q9Y4E8 31477895
Intra
SYVN1 Q86TM6 USP15 Homo sapiens Q9Y4E8
Y2H
31477895
Intra
SYVN1 Q86TM6 SEL1L Homo sapiens Q9UBV2 28827405
Intra
SYVN1 Q86TM6 SEL1L Homo sapiens Q9UBV2 35271311
Intra
SYVN1 Q86TM6 SEL1L Homo sapiens Q9UBV2 22119785
Intra
SYVN1 Q86TM6 SEL1L Homo sapiens Q9UBV2 31477895
Intra
SYVN1 Q86TM6 SEL1L Homo sapiens Q9UBV2 28827405
Intra
SYVN1 Q86TM6 ERLIN1 Homo sapiens O75477 22119785
Intra
SYVN1 Q86TM6 TP53 Homo sapiens P04637 17170702
Intra
SYVN1 Q86TM6 ERN1 Homo sapiens O75460 18369366
Intra
SYVN1 Q86TM6 ERN1 Homo sapiens O75460 18369366
Intra
SYVN1 Q86TM6 ERLIN2 Homo sapiens O94905 21343306
Intra
SYVN1 Q86TM6 ERLIN2 Homo sapiens O94905 22119785
Intra
SYVN1 Q86TM6 FAM8A1 Homo sapiens Q9UBU6 28827405
Intra
SYVN1 Q86TM6 FAM8A1 Homo sapiens Q9UBU6 22119785
Intra
SYVN1 Q86TM6 FAM8A1 Homo sapiens Q9UBU6 28827405
Intra
SYVN1 Q86TM6 UBE2J1 Homo sapiens Q9Y385 22119785
Intra
SYVN1 Q86TM6 UBE2J1 Homo sapiens Q9Y385 28827405
Intra
SYVN1 Q86TM6 UBE2J1 Homo sapiens Q9Y385 28827405
Cross: Cross-species interaction Intra: Intraspecies interaction

SYVN1 Anticorps

Cat. No. Nom du produit Application Reactivity
HY-P87091 SYVN1 Antibody (YA6784) WB, ICC/IF, FC Human

Related Diseases

Diseases Alias
Wolfram Syndrome
  • Didmoad Syndrome

  • Didmoad

  • Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

  • Wfs

  • Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

  • Didmoadud

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

  • Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 6
  • SCAR6

  • Norwegian Infantile Onset Ataxia

  • Autosomal Recessive Spinocerebellar Ataxia 6

  • Autosomal Recessive Spinocerebellar Ataxia Type 6

  • Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

  • Cerebellar Ataxia, Infantile Nonprogressive, Autosomal Recessive

  • Spinocerebellar Ataxia Autosomal Recessive 6

  • Cerebellar Ataxia Infantile Nonprogressive Autosomal Recessive

Arthropathy
  • Ankylosis Of Ankle And Foot Joint

  • Ankylosis Of Forearm Joint

  • Ankylosis Of Hand Joint

  • Ankylosis Of Joint Of Ankle And/Or Foot

  • Ankylosis Of Joint Of Forearm

  • Ankylosis Of Joint Of Hand

  • Ankylosis Of Joint Of Lower Leg

  • Ankylosis Of Joint Of Multiple Sites

  • Ankylosis Of Joint Of Pelvic Region And Thigh

  • Ankylosis Of Joint Of Shoulder Region

  • Ankylosis Of Joint Of Upper Arm

  • Ankylosis Of Lower Leg Joint

  • Ankylosis Of Multiple Joints

  • Ankylosis Of Upper Arm Joint

  • Infectious Arthropathy

  • Joint Ankylosis Of The Ankle And Foot

  • Joint Ankylosis Of The Ankle And/Or Foot

  • Joint Ankylosis Of The Forearm

  • Joint Ankylosis Of The Hand

  • Joint Ankylosis Of The Lower Leg

  • Joint Ankylosis Of The Pelvic Region And Thigh

  • Joint Ankylosis Of The Shoulder Region

  • Joint Ankylosis Of The Upper Arm

  • Joint Diseases

  • Joint Disease

  • Arthropathy Associated With Infection

Spastic Paraplegia, Optic Atrophy, And Neuropathy
  • Spoan Syndrome

  • SPOAN

  • Spastic Paraplegia, Optic Atropy, And Neuropathy

  • Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome

  • Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome

Rheumatoid Arthritis
  • RA

  • Arthritis, Rheumatoid

  • Rheumatoid Arthritis, Susceptibility To

  • Arthritis Or Polyarthritis, Rheumatic

  • Atrophic Arthritis

  • Rheumatism Arthritis

  • Rheumatoid Polyarthritis

Charcot-Marie-Tooth Disease
  • Cmt

  • Hmsn

  • Hereditary Motor And Sensory Neuropathy

  • Pma

  • Cmt - Charcot-Marie-Tooth Disease

  • Charcot Marie Tooth Disease

  • Charcot-Marie-Tooth Hereditary Neuropathy

  • Charcot-Marie-Tooth Syndrome

  • Peroneal Muscular Atrophy

  • Hereditary Motor And Sensory Neuropathies

Diffuse Large B-Cell Lymphoma
  • Dlbcl

  • Diffuse Large B-Cell Lymphoma, Not Otherwise Specified

  • Large B-Cell Diffuse Lymphoma

  • Lymphoma, Large B-Cell, Diffuse

  • Dlbcl - [Diffuse Large B-Cell Lymphoma]

  • Diffuse Large Beta Cell Lymphoma

Cystic Fibrosis
  • Mucoviscidosis

  • CF

  • Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

  • Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

  • Cystic Fibrosis Lung Disease, Modifier Of

  • Cystic Fibrosis Of Pancreas

  • Fibrocystic Disease Of Pancreas

  • Cf - [Cystic Fibrosis]

  • Cystic Fibrosis Nos

  • Fibrocystic Disease

  • Fibrocystic Disease Of The Pancreas

  • Mucoviscidosis Of Pancreas

  • Nonproliferative Fibrocystic Disease

  • Pancreatic Cystic Fibrosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SYVN1 RGD RGD:1310488
Canis familiaris SYVN1 VGNC VGNC:47055
Felis catus SYVN1 VGNC VGNC:65909
Macaca mulatta SYVN1 VGNC VGNC:78183
Bos taurus SYVN1 VGNC VGNC:56285
Mus musculus SYVN1 MGD MGI:1921376
Others SYVN1 NCBI