SYVN1 - synoviolin 1 Gene

Homo sapiens

Also known as DER3; HRD1

Gene ID: 84447 | Gene type: protein coding

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SYVN1	Q86TM6	USP15	Homo sapiens	Q9Y4E8	Anti Bait CoIP	31477895
Intra	SYVN1	Q86TM6	USP15	Homo sapiens	Q9Y4E8	Confocal	31477895
Intra	SYVN1	Q86TM6	USP15	Homo sapiens	Q9Y4E8	Pull Down	31477895
Intra	SYVN1	Q86TM6	USP15	Homo sapiens	Q9Y4E8	Anti Tag CoIP	31477895
Intra	SYVN1	Q86TM6	USP15	Homo sapiens	Q9Y4E8	Density Sedimentation	31477895
Intra	SYVN1	Q86TM6	USP15	Homo sapiens	Q9Y4E8	Y2H	31477895
Intra	SYVN1	Q86TM6	SEL1L	Homo sapiens	Q9UBV2	Anti Bait CoIP	28827405
Intra	SYVN1	Q86TM6	SEL1L	Homo sapiens	Q9UBV2	Anti Tag CoIP	35271311
Intra	SYVN1	Q86TM6	SEL1L	Homo sapiens	Q9UBV2	Pull Down	22119785
Intra	SYVN1	Q86TM6	SEL1L	Homo sapiens	Q9UBV2	Anti Tag CoIP	31477895
Intra	SYVN1	Q86TM6	SEL1L	Homo sapiens	Q9UBV2	Affinity Chrom	28827405
Intra	SYVN1	Q86TM6	ERLIN1	Homo sapiens	O75477	Pull Down	22119785
Intra	SYVN1	Q86TM6	TP53	Homo sapiens	P04637	Anti Bait CoIP	17170702
Intra	SYVN1	Q86TM6	ERN1	Homo sapiens	O75460	Anti Bait CoIP	18369366
Intra	SYVN1	Q86TM6	ERN1	Homo sapiens	O75460	Anti Tag CoIP	18369366
Intra	SYVN1	Q86TM6	ERLIN2	Homo sapiens	O94905	Anti Tag CoIP	21343306
Intra	SYVN1	Q86TM6	ERLIN2	Homo sapiens	O94905	Pull Down	22119785
Intra	SYVN1	Q86TM6	FAM8A1	Homo sapiens	Q9UBU6	Anti Bait CoIP	28827405
Intra	SYVN1	Q86TM6	FAM8A1	Homo sapiens	Q9UBU6	Pull Down	22119785
Intra	SYVN1	Q86TM6	FAM8A1	Homo sapiens	Q9UBU6	Affinity Chrom	28827405
Intra	SYVN1	Q86TM6	UBE2J1	Homo sapiens	Q9Y385	Pull Down	22119785
Intra	SYVN1	Q86TM6	UBE2J1	Homo sapiens	Q9Y385	Anti Bait CoIP	28827405
Intra	SYVN1	Q86TM6	UBE2J1	Homo sapiens	Q9Y385	Affinity Chrom	28827405

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-135844	LS-102	Inhibitor	97.92%	Unkown
HY-RS14127	SYVN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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