SUPV3L1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

ATP-dependent RNA helicase SUPV3L1, mitochondrial is an enzyme that in humans is encoded by the SUPV3L1 gene.

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
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
Citrobacter infection	Normal
All tests and analysis from

Model organisms have been used in the study of SUPV3L1 function. A conditional knockout mouse line, called Supv3l1^{tm1a(EUCOMM)Wtsi} 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.

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. 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.

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 (PDF). 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 / Under the Auspices of the European Cell Biology Organization. 99 (6): 323–32. doi:10.1042/BC20060108. PMID 17352692.