SUPV3L1 - Suv3 like RNA helicase Gene

Also Known as SUV3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6832

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
Molecular Function GO Annotation Evidence Références 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 Références 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 Références 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

Helicase_C: Helicase conserved C-terminal domain (386 - 474)

SUV3_C

SUV3_C: Mitochondrial degradasome RNA helicase subunit C terminal (625 - 672)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Références
Intra
SUPV3L1 Q8IYB8 PNPT1 Homo sapiens Q8TCS8 19509288
Intra
SUPV3L1 Q8IYB8 PNPT1 Homo sapiens Q8TCS8 33961781
Intra
SUPV3L1 Q8IYB8 PNPT1 Homo sapiens Q8TCS8 28514442
Intra
SUPV3L1 Q8IYB8 PNPT1 Homo sapiens Q8TCS8 19509288
Intra
SUPV3L1 Q8IYB8 PNPT1 Homo sapiens Q8TCS8 19509288
Intra
SUPV3L1 Q8IYB8 PNPT1 Homo sapiens Q8TCS8
SPR
19509288
Intra
SUPV3L1 Q8IYB8 RBM3 Homo sapiens P98179 33961781
Intra
SUPV3L1 Q8IYB8 LZTS2 Homo sapiens Q9BRK4 25416956
Intra
SUPV3L1 Q8IYB8 RBM3 Homo sapiens P98179 28514442
Intra
SUPV3L1 Q8IYB8 MAGEB6 Homo sapiens Q8N7X4 32296183
Intra
SUPV3L1 Q8IYB8 LZTS2 Homo sapiens Q9BRK4 25416956
Intra
SUPV3L1 Q8IYB8 MAGEB6 Homo sapiens Q8N7X4 32296183
Intra
SUPV3L1 Q8IYB8 SUPV3L1 Homo sapiens Q8IYB8 19509288
Intra
SUPV3L1 Q8IYB8 SUPV3L1 Homo sapiens Q8IYB8 19509288
Intra
SUPV3L1 Q8IYB8 MAGEB6 Homo sapiens Q8N7X4 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

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
Others SUPV3L1 NCBI