SUPV3L1

ATP-dependent RNA helicase SUPV3L1, mitochondrial is an enzyme that in humans is encoded by the SUPV3L1 gene.[5][6][7]

SUPV3L1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3RC3, 3RC8
Identifiers
Aliases	SUPV3L1, SUV3, Suv3 like RNA helicase
External IDs	OMIM: 605122 MGI: 2441711 HomoloGene: 2386 GeneCards: SUPV3L1
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q22.1 Start 69,180,234 bp[1] End 69,209,099 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10|10 B4 Start 62,429,209 bp[2] End 62,449,738 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • DNA binding • nucleotide binding • protein homodimerization activity • GO:0008026 helicase activity • GO:0034459 3'-5' RNA helicase activity • hydrolase activity, acting on acid anhydrides • GO:0004003 DNA helicase activity • GO:0001948 protein binding • double-stranded RNA binding • ATP binding • hydrolase activity • RNA binding Cellular component • mitochondrial degradosome • mitochondrial matrix • mitochondrion • mitochondrial nucleoid • cell nucleus Biological process • DNA recombination • mitochondrial mRNA catabolic process • mitochondrial ncRNA surveillance • mitochondrial RNA 3'-end processing • RNA catabolic process • negative regulation of apoptotic process • positive regulation of cell growth • DNA duplex unwinding • mitochondrial mRNA surveillance • mitochondrion morphogenesis • mitochondrial RNA surveillance • chromatin maintenance • positive regulation of mitochondrial RNA catabolic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	6832	338359
Ensembl	ENSG00000156502	ENSMUSG00000020079
UniProt	Q8IYB8	Q80YD1
RefSeq (mRNA)	NM_001301683 NM_003171 NM_001323584 NM_001323585 NM_001323586 NM_001323587 NM_001323588	NM_181423 NM_001359806
RefSeq (protein)	NP_001288612 NP_001310513 NP_001310514 NP_001310515 NP_001310516 NP_001310517 NP_003162	NP_852088 NP_001346735
Location (UCSC)	Chr 10: 69.18 – 69.21 Mb	Chr 10: 62.43 – 62.45 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Model organisms

Supv3l1 knockout mouse phenotype

Characteristic	Phenotype
Homozygote viability	Abnormal
Recessive lethal study	Abnormal
Fertility	Normal
Body weight	Normal
Anxiety	Normal
Neurological assessment	Normal
Grip strength	Normal
Hot plate	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Abnormal[8]
Body temperature	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Plasma immunoglobulins	Normal
Haematology	Normal
Peripheral blood lymphocytes	Normal
Micronucleus test	Normal
Heart weight	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
Salmonella infection	Normal[9]
Citrobacter infection	Normal[10]
All tests and analysis from[11][12]

Model organisms have been used in the study of SUPV3L1 function. A conditional knockout mouse line, called Supv3l1^{tm1a(EUCOMM)Wtsi}[13][14] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists — at the Wellcome Trust Sanger Institute.[15][16][17]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[11][18] Twenty six tests were carried out and three significant phenotypes were reported. All homozygous mutant animals died prior to birth, and therefore none were observed at weaning. The remaining tests were carried out on heterozygous mutant mice and radiography showed female animals had defects in their transverse processes.[11]

References

1. GRCh38: Ensembl release 89: ENSG00000156502 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000020079 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Dmochowska A, Stankiewicz P, Golik P, Stepien PP, Bocian E, Hansmann I, Bartnik E (Mar 1999). "Assignment1 of SUPV3L1 to human chromosome band 10q22.1 by in situ hybridization". Cytogenetics and Cell Genetics. 83 (1–2): 84–5. doi:10.1159/000015135. PMID 9925937.
6. Minczuk M, Mroczek S, Pawlak SD, Stepien PP (October 2005). "Human ATP-dependent RNA/DNA helicase hSuv3p interacts with the cofactor of survivin HBXIP". The FEBS Journal. 272 (19): 5008–19. doi:10.1111/j.1742-4658.2005.04910.x. PMID 16176273.
7. "Entrez Gene: SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae)".
8. "Radiography data for Supv3l1". Wellcome Trust Sanger Institute.
9. "Salmonella infection data for Supv3l1". Wellcome Trust Sanger Institute.
10. "Citrobacter infection data for Supv3l1". Wellcome Trust Sanger Institute.
11. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x.
12. Mouse Resources Portal, Wellcome Trust Sanger Institute.
13. "International Knockout Mouse Consortium".
14. "Mouse Genome Informatics".
15. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
16. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
17. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
18. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

• Glatt H (December 2000). "Sulfotransferases in the bioactivation of xenobiotics". Chemico-Biological Interactions. 129 (1–2): 141–70. doi:10.1016/S0009-2797(00)00202-7. PMID 11154739.
• Adams MD, Kerlavage AR, Fleischmann RD, Fuldner RA, Bult CJ, Lee NH, Kirkness EF, Weinstock KG, Gocayne JD, White O (September 1995). "Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence". Nature. 377 (6547 Suppl): 3–174. PMID 7566098.
• Minczuk M, Piwowarski J, Papworth MA, Awiszus K, Schalinski S, Dziembowski A, Dmochowska A, Bartnik E, Tokatlidis K, Stepien PP, Borowski P (December 2002). "Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA". Nucleic Acids Research. 30 (23): 5074–86. doi:10.1093/nar/gkf647. PMC 137961. PMID 12466530.
• Shu Z, Vijayakumar S, Chen CF, Chen PL, Lee WH (April 2004). "Purified human SUV3p exhibits multiple-substrate unwinding activity upon conformational change". Biochemistry. 43 (16): 4781–90. doi:10.1021/bi0356449. PMID 15096047.
• Minczuk M, Lilpop J, Boros J, Stepien PP (June 2005). "The 5' region of the human hSUV3 gene encoding mitochondrial DNA and RNA helicase: promoter characterization and alternative pre-mRNA splicing". Biochimica et Biophysica Acta. 1729 (2): 81–7. doi:10.1016/j.bbaexp.2005.04.005. PMID 15919122.
• Szczesny RJ, Obriot H, Paczkowska A, Jedrzejczak R, Dmochowska A, Bartnik E, Formstecher P, Polakowska R, Stepien PP (June 2007). "Down-regulation of human RNA/DNA helicase SUV3 induces apoptosis by a caspase- and AIF-dependent pathway". Biology of the Cell. 99 (6): 323–32. doi:10.1042/BC20060108. PMID 17352692.

External links

• Overview of all the structural information available in the PDB for UniProt: Q8IYB8 (ATP-dependent RNA helicase SUPV3L1, mitochondria) at the PDBe-KB.