SUPV3L1 - Suv3 like RNA helicase Gene

Homo sapiens

Also known as SUV3

Gene ID: 6832 | Gene type: protein coding

About SUPV3L1

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:69,180,234-69,209,093 (from NCBI)

This gene has 7 transcripts (splice variants) and 212 orthologues. Ubiquitous expression in testis (RPKM 11.2), bone marrow (RPKM 8.5) and 25 other tissues.

Summary

Enables helicase activity; nucleic acid binding activity; and protein homodimerization activity. Involved in several processes, including mitochondrial RNA metabolic process; mitochondrion morphogenesis; and positive regulation of mitochondrial RNA catabolic process. Located in mitochondrial nucleoid and nucleus. Part of mitochondrial degradosome. [provided by Alliance of Genome Resources, Apr 2022]

SUPV3L1 Products(7)

mRNA	Protein	Name
NM_001301683.2	NP_001288612.1	ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2
NM_001323584.2	NP_001310513.1	ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 2
NM_001323585.2	NP_001310514.1	ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 3
NM_001323586.2	NP_001310515.1	ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 3
NM_001323587.2	NP_001310516.1	ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 4
NM_001323588.2	NP_001310517.1	ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 4
NM_003171.5	NP_003162.2	ATP-dependent RNA helicase SUPV3L1, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3'-5' RNA helicase activity	EXP EXP: Inferred from Experiment	15096047	GOA
enables 3'-5' RNA helicase activity	IDA IDA: Inferred from direct assay	19509288	GOA
enables DNA binding	IMP IMP: Inferred from mutant phenotype	12466530	GOA
enables DNA helicase activity	IMP IMP: Inferred from mutant phenotype	12466530	GOA
enables RNA helicase activity	IDA IDA: Inferred from direct assay	19509288	GOA
enables double-stranded RNA binding	IDA IDA: Inferred from direct assay	19509288	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	19509288	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17961633	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	19509288	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA duplex unwinding	IMP IMP: Inferred from mutant phenotype	12466530	GOA
involved in DNA recombination	IMP IMP: Inferred from mutant phenotype	17961633	GOA
involved in RNA catabolic process	IMP IMP: Inferred from mutant phenotype	18678873	GOA
involved in mitochondrial RNA 3'-end processing	IMP IMP: Inferred from mutant phenotype	19864255	GOA
involved in mitochondrial RNA surveillance	IMP IMP: Inferred from mutant phenotype	19864255	GOA
involved in mitochondrial mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	19864255	GOA
involved in mitochondrial mRNA surveillance	IMP IMP: Inferred from mutant phenotype	19864255	GOA
involved in mitochondrial ncRNA surveillance	IMP IMP: Inferred from mutant phenotype	19864255	GOA
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	19864255	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	17352692	GOA
involved in positive regulation of cell growth	IMP IMP: Inferred from mutant phenotype	19864255	GOA
involved in positive regulation of mitochondrial RNA catabolic process	IDA IDA: Inferred from direct assay	19509288	GOA
involved in positive regulation of mitochondrial RNA catabolic process	IMP IMP: Inferred from mutant phenotype	19864255	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of mitochondrial degradosome	IDA IDA: Inferred from direct assay	19509288	GOA
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	12466530	GOA
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	17352692	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17352692	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

SUPV3L1 Protein Structure

Helicase_C

SUV3_C

0
200
400
600
786 a.a.

Protein Preferred Names

Protein Names

ATP-dependent RNA helicase SUPV3L1, mitochondrial

SUV3-like helicase

SUPV3L1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	SUPV3L1	Q8IYB8	PNPT1	Homo sapiens	Q8TCS8	Chromatography	19509288
Intra	SUPV3L1	Q8IYB8	PNPT1	Homo sapiens	Q8TCS8	Anti Tag CoIP	33961781
Intra	SUPV3L1	Q8IYB8	PNPT1	Homo sapiens	Q8TCS8	Anti Tag CoIP	28514442
Intra	SUPV3L1	Q8IYB8	PNPT1	Homo sapiens	Q8TCS8	Solution Sedimentation	19509288
Intra	SUPV3L1	Q8IYB8	PNPT1	Homo sapiens	Q8TCS8	Comig Non-Denat Gel	19509288
Intra	SUPV3L1	Q8IYB8	PNPT1	Homo sapiens	Q8TCS8	SPR	19509288
Intra	SUPV3L1	Q8IYB8	RBM3	Homo sapiens	P98179	Anti Tag CoIP	33961781
Intra	SUPV3L1	Q8IYB8	LZTS2	Homo sapiens	Q9BRK4	Validated Y2H	25416956
Intra	SUPV3L1	Q8IYB8	RBM3	Homo sapiens	P98179	Anti Tag CoIP	28514442
Intra	SUPV3L1	Q8IYB8	MAGEB6	Homo sapiens	Q8N7X4	Validated Y2H	32296183
Intra	SUPV3L1	Q8IYB8	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	SUPV3L1	Q8IYB8	MAGEB6	Homo sapiens	Q8N7X4	Y2H Array	32296183
Intra	SUPV3L1	Q8IYB8	SUPV3L1	Homo sapiens	Q8IYB8	Chromatography	19509288
Intra	SUPV3L1	Q8IYB8	SUPV3L1	Homo sapiens	Q8IYB8	Solution Sedimentation	19509288
Intra	SUPV3L1	Q8IYB8	MAGEB6	Homo sapiens	Q8N7X4	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Dyskeratosis Congenita, Autosomal Recessive 5

Dyskeratosis Congenita, Autosomal Dominant, 4	DKCB5
Autosomal Dominant Dyskeratosis Congenita 4	DKCA4
Autosomal Recessive Dyskeratosis Congenita 5	Dyskeratosis Congenita, Autosomal Recessive, 5
Dyskeratosis Congenita, Autosomal Dominant 4	Dyskeratosis Congenita, Autosomal Recessive, Type 5

Neuropathy, Hereditary Motor And Sensory, Russe Type

Charcot-Marie-Tooth Disease Type 4g	HMSNR
Cmt4g	Hereditary Motor And Sensory Neuropathy, Russe Type
Charcot-Marie-Tooth Disease, Type 4g	Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g
Charcot-Marie-Tooth Neuropathy Type 4g	Charcot-Marie-Tooth Neuropathy, Type 4g
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g	Hereditary Motor And Sensory Neuropathy Russe Type
Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome	Cree Encephalitis
Aicardi-Goutières Syndrome	Encephalopathy With Basal Ganglia Calcification
Ags	Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid
Pseudotoxoplasmosis Syndrome	Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis	Aicardi-Goutieres Syndrome 1

Spastic Ataxia

Spax	Ataxia, Spastic

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14041	SUPV3L1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SUPV3L1	VGNC	VGNC:46993
Macaca mulatta	SUPV3L1	VGNC	VGNC:106107
Felis catus	SUPV3L1	VGNC	VGNC:65852
Mus musculus	SUPV3L1	MGD	MGI:2441711
Bos taurus	SUPV3L1	VGNC	VGNC:35483
Rattus norvegicus	SUPV3L1	RGD	RGD:1305565

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