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Aliases for SUPV3L1 Gene

Aliases for SUPV3L1 Gene

  • Suv3 Like RNA Helicase 2 3 5
  • SUV3-Like Protein 1 3 4
  • SUV3 3 4
  • ATP-Dependent RNA Helicase SUPV3L1, Mitochondrial 3
  • Suppressor Of Var1, 3-Like 1 (S. Cerevisiae) 2
  • Suppressor Of Var1 (S.Cerevisiae) 3-Like 1 2
  • Suppressor Of Var1 3-Like Protein 1 4
  • Suppressor Of Var1, 3-Like 1(SUV3) 3
  • Suppressor Of Var1, 3-Like 1 3
  • SUV3-Like Helicase 3
  • EC 3.6.4.13 4

External Ids for SUPV3L1 Gene

Previous GeneCards Identifiers for SUPV3L1 Gene

  • GC10P069751
  • GC10P070026
  • GC10P070832
  • GC10P070284
  • GC10P070609
  • GC10P070939
  • GC10P064939

Summaries for SUPV3L1 Gene

GeneCards Summary for SUPV3L1 Gene

SUPV3L1 (Suv3 Like RNA Helicase) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include RNA binding.

UniProtKB/Swiss-Prot for SUPV3L1 Gene

  • Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3 overhang double-stranded RNA with a 3-to-5 directionality in an ATP-dependent manner. ATPase and ATP-dependent multisubstrate helicase, able to unwind double-stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5-to-3 direction. Plays a role in the RNA surveillance system in mitochondria; regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect cells from apoptosis. Associates with mitochondrial DNA.

Gene Wiki entry for SUPV3L1 Gene

Additional gene information for SUPV3L1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUPV3L1 Gene

Genomics for SUPV3L1 Gene

GeneHancer (GH) Regulatory Elements for SUPV3L1 Gene

Promoters and enhancers for SUPV3L1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J069179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 658 +0.5 455 3.3 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 SUPV3L1 CCAR1 DDX50 TYSND1 HNRNPH3 DDX21 SAR1A RPL26P27 VPS26A HKDC1
GH10J069178 Enhancer 0.2 ENCODE 650.7 -1.3 -1288 0 SUPV3L1 RPS12P17
GH10J069219 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 17.9 +43.1 43066 7.5 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF766 HKDC1 SUPV3L1 CCAR1 DDX50 HNRNPH3 SAR1A ENSG00000231748 HK1 RPL26P27 LOC101928994
GH10J069122 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 13.1 -55.8 -55755 3.1 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 VPS26A CCAR1 DDX50 HNRNPH3 RPL26P27 SUPV3L1 LOC101928994 HKDC1 SRGN DDX21
GH10J068526 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.1 -652.9 -652908 2.2 CLOCK ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 SLC25A16 DDX50 CCAR1 DNA2 HNRNPH3 HERC4 SIRT1 DDX21 RPL26P27 SUPV3L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SUPV3L1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SUPV3L1 gene promoter:

Genomic Locations for SUPV3L1 Gene

Genomic Locations for SUPV3L1 Gene
chr10:69,180,204-69,209,099
(GRCh38/hg38)
Size:
28,896 bases
Orientation:
Plus strand
chr10:70,939,988-70,968,855
(GRCh37/hg19)

Genomic View for SUPV3L1 Gene

Genes around SUPV3L1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUPV3L1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SUPV3L1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUPV3L1 Gene

Proteins for SUPV3L1 Gene

  • Protein details for SUPV3L1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYB8-SUV3_HUMAN
    Recommended name:
    ATP-dependent RNA helicase SUPV3L1, mitochondrial
    Protein Accession:
    Q8IYB8
    Secondary Accessions:
    • A8K301
    • O43630

    Protein attributes for SUPV3L1 Gene

    Size:
    786 amino acids
    Molecular mass:
    87991 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer; in free form. Component of the mitochondrial degradosome (mtEXO) complex which is a heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1. Interacts with LAMTOR5/HBXIP, WRN and BLM.

    Three dimensional structures from OCA and Proteopedia for SUPV3L1 Gene

neXtProt entry for SUPV3L1 Gene

Post-translational modifications for SUPV3L1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SUPV3L1 Gene

No data available for DME Specific Peptides for SUPV3L1 Gene

Domains & Families for SUPV3L1 Gene

Gene Families for SUPV3L1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for SUPV3L1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SUPV3L1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IYB8

UniProtKB/Swiss-Prot:

SUV3_HUMAN :
  • Belongs to the helicase family.
Family:
  • Belongs to the helicase family.
genes like me logo Genes that share domains with SUPV3L1: view

Function for SUPV3L1 Gene

Molecular function for SUPV3L1 Gene

UniProtKB/Swiss-Prot Function:
Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3 overhang double-stranded RNA with a 3-to-5 directionality in an ATP-dependent manner. ATPase and ATP-dependent multisubstrate helicase, able to unwind double-stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5-to-3 direction. Plays a role in the RNA surveillance system in mitochondria; regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect cells from apoptosis. Associates with mitochondrial DNA.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Helicase activity toward DNA substrate is inhibited by micromolar concentrations of 5,6-dichloro-1-(beta-D-ribofuranosyl)benzotriazole (DRBT) and 4,5,6,7-tetrabromobenzotriazole (TBBT). Helicase activity toward RNA substrate is inhibited by elevated concentrations of TBBT. Inhibited by some ring-expanded nucleoside analogs.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=41.9 uM for ATP {ECO:0000269 PubMed:12466530, ECO:0000269 PubMed:15096047}; pH dependence: Optimum pH is 5.0. {ECO:0000269 PubMed:12466530, ECO:0000269 PubMed:15096047}; Temperature dependence: Optimum temperature is 30 degrees Celsius. {ECO:0000269 PubMed:12466530, ECO:0000269 PubMed:15096047};
GENATLAS Biochemistry:
yeast mitochondrial protein homolog,putative ATP-dependent RNA helicase

Enzyme Numbers (IUBMB) for SUPV3L1 Gene

Phenotypes From GWAS Catalog for SUPV3L1 Gene

Gene Ontology (GO) - Molecular Function for SUPV3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IMP 12466530
GO:0003678 DNA helicase activity IMP 12466530
GO:0003723 RNA binding HDA,TAS 22658674
GO:0003725 double-stranded RNA binding IDA 19509288
GO:0004004 ATP-dependent RNA helicase activity IDA 19509288
genes like me logo Genes that share ontologies with SUPV3L1: view
genes like me logo Genes that share phenotypes with SUPV3L1: view

Animal Models for SUPV3L1 Gene

MGI Knock Outs for SUPV3L1:

Animal Model Products

  • Taconic Biosciences Mouse Models for SUPV3L1

CRISPR Products

miRNA for SUPV3L1 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUPV3L1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SUPV3L1 Gene

Localization for SUPV3L1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUPV3L1 Gene

Nucleus. Mitochondrion matrix. Mitochondrion matrix, mitochondrion nucleoid.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUPV3L1 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SUPV3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 17352692
GO:0005739 mitochondrion IDA,TAS 17352692
GO:0005759 mitochondrial matrix IDA,IEA 12466530
GO:0005829 cytosol IBA --
GO:0042645 mitochondrial nucleoid IEA,IDA 18063578
genes like me logo Genes that share ontologies with SUPV3L1: view

Pathways & Interactions for SUPV3L1 Gene

SuperPathways for SUPV3L1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SUPV3L1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000958 mitochondrial mRNA catabolic process IMP 19864255
GO:0000962 positive regulation of mitochondrial RNA catabolic process IMP 19864255
GO:0000965 mitochondrial RNA 3-end processing IMP 19864255
GO:0006310 DNA recombination IMP 17961633
GO:0006401 RNA catabolic process IMP 18678873
genes like me logo Genes that share ontologies with SUPV3L1: view

No data available for Pathways by source and SIGNOR curated interactions for SUPV3L1 Gene

Drugs & Compounds for SUPV3L1 Gene

(5) Drugs for SUPV3L1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Magnesium Approved Nutra 0
Manganese Approved Nutra 37
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(1) Additional Compounds for SUPV3L1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with SUPV3L1: view

Transcripts for SUPV3L1 Gene

Unigene Clusters for SUPV3L1 Gene

Suppressor of var1, 3-like 1 (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SUPV3L1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SUPV3L1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - -
SP2: -
SP3: -
SP4:
SP5: - - - - - - - - -

Relevant External Links for SUPV3L1 Gene

GeneLoc Exon Structure for
SUPV3L1
ECgene alternative splicing isoforms for
SUPV3L1

Expression for SUPV3L1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SUPV3L1 Gene

Protein differential expression in normal tissues from HIPED for SUPV3L1 Gene

This gene is overexpressed in Nasal epithelium (26.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SUPV3L1 Gene



Protein tissue co-expression partners for SUPV3L1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SUPV3L1 Gene:

SUPV3L1

SOURCE GeneReport for Unigene cluster for SUPV3L1 Gene:

Hs.106469

mRNA Expression by UniProt/SwissProt for SUPV3L1 Gene:

Q8IYB8-SUV3_HUMAN
Tissue specificity: Broadly expressed.

Evidence on tissue expression from TISSUES for SUPV3L1 Gene

  • Blood(4.2)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with SUPV3L1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SUPV3L1 Gene

Orthologs for SUPV3L1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SUPV3L1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SUPV3L1 34 33
  • 99.79 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SUPV3L1 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SUPV3L1 34 33
  • 90.33 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Supv3l1 33
  • 84.65 (n)
mouse
(Mus musculus)
Mammalia Supv3l1 16 34 33
  • 84.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SUPV3L1 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SUPV3L1 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves SUPV3L1 34 33
  • 70.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SUPV3L1 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia supv3l1 33
  • 70.54 (n)
Str.10077 33
zebrafish
(Danio rerio)
Actinopterygii supv3l1 34 33
  • 68.79 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9791 34 35 33
  • 57.25 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003508 33
  • 56.78 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C08F8.2 33
  • 53.61 (n)
C08F8.2 34 35
  • 45 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SUV3 36 34
  • 28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G39840 33
  • 52.39 (n)
rice
(Oryza sativa)
Liliopsida Os04g0459800 33
  • 51.25 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 37 (a)
OneToOne
Species where no ortholog for SUPV3L1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SUPV3L1 Gene

ENSEMBL:
Gene Tree for SUPV3L1 (if available)
TreeFam:
Gene Tree for SUPV3L1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SUPV3L1: view image

Paralogs for SUPV3L1 Gene

No data available for Paralogs for SUPV3L1 Gene

Variants for SUPV3L1 Gene

Sequence variations from dbSNP and Humsavar for SUPV3L1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000257126 -- 69,188,785(+) C/A intron_variant
rs1000284022 -- 69,178,999(+) T/C/G upstream_transcript_variant
rs1000310878 -- 69,189,070(+) C/G intron_variant
rs1000329348 -- 69,185,314(+) G/C intron_variant
rs1000543102 -- 69,191,159(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SUPV3L1 Gene

Variant ID Type Subtype PubMed ID
esv3891855 CNV loss 25118596
nsv508589 CNV deletion 20534489

Variation tolerance for SUPV3L1 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.14; 61.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUPV3L1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUPV3L1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUPV3L1 Gene

Disorders for SUPV3L1 Gene

Additional Disease Information for SUPV3L1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SUPV3L1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SUPV3L1 Gene

Publications for SUPV3L1 Gene

  1. Human ATP-dependent RNA/DNA helicase hSuv3p interacts with the cofactor of survivin HBXIP. (PMID: 16176273) Minczuk M … Stepien PP (The FEBS journal 2005) 2 3 4 22 58
  2. Down-regulation of human RNA/DNA helicase SUV3 induces apoptosis by a caspase- and AIF-dependent pathway. (PMID: 17352692) Szczesny RJ … Stepien PP (Biology of the cell 2007) 3 4 22 58
  3. Regulation of the human Suv3 helicase on DNA by inorganic cofactors. (PMID: 25446650) Venø ST … Stevnsner T (Biochimie 2015) 2 3 58
  4. Human mitochondrial RNA turnover caught in flagranti: involvement of hSuv3p helicase in RNA surveillance. (PMID: 19864255) Szczesny RJ … Stepien PP (Nucleic acids research 2010) 3 4 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for SUPV3L1 Gene

Sources for SUPV3L1 Gene

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