ATP-ovisna mitohondrijska RNK-helikaza SUPV3L jest enzim koji je kod ljudi kodiran genom SUPV3L1.[5][6][7]

SUPV3L1
Dostupne strukture
PDBPretraga ortologa: PDBe RCSB
Spisak PDB ID kodova

3RC3, 3RC8

Identifikatori
AliasiSUPV3L1
Vanjski ID-jeviOMIM: 605122 MGI: 2441711 HomoloGene: 2386 GeneCards: SUPV3L1
Lokacija gena (čovjek)
Hromosom 10 (čovjek)
Hrom.Hromosom 10 (čovjek)[1]
Hromosom 10 (čovjek)
Genomska lokacija za SUPV3L1
Genomska lokacija za SUPV3L1
Bend10q22.1Početak69,180,234 bp[1]
Kraj69,209,099 bp[1]
Lokacija gena (miš)
Hromosom 10 (miš)
Hrom.Hromosom 10 (miš)[2]
Hromosom 10 (miš)
Genomska lokacija za SUPV3L1
Genomska lokacija za SUPV3L1
Bend10|10 B4Početak62,264,988 bp[2]
Kraj62,285,517 bp[2]
Obrazac RNK ekspresije
Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija 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, GO:0016582 protein binding
double-stranded RNA binding
ATP binding
hydrolase activity
RNA binding
Ćelijska komponenta mitochondrial degradosome
mitochondrial matrix
mitohondrija
mitochondrial nucleoid
Jedro
Biološki proces 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
positive regulation of mitochondrial RNA catabolic process
Izvori:Amigo / QuickGO
Ortolozi
VrsteČovjekMiš
Entrez
Ensembl
UniProt
RefSeq (mRNK)
NM_001301683
NM_003171
NM_001323584
NM_001323585
NM_001323586

NM_001323587
NM_001323588

NM_181423
NM_001359806

RefSeq (bjelančevina)
NP_001288612
NP_001310513
NP_001310514
NP_001310515
NP_001310516

NP_001310517
NP_003162

NP_852088
NP_001346735

Lokacija (UCSC)Chr 10: 69.18 – 69.21 MbChr 10: 62.26 – 62.29 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/uredi – miš

Aminokiselinska sekvenca uredi

Dužina polipeptidnog lanca je 786 aminokiselina, а molekulska težina 87.991 Da.[8]

1020304050
MSFSRALLWARLPAGRQAGHRAAICSALRPHFGPFPGVLGQVSVLATASS
SASGGSKIPNTSLFVPLTVKPQGPSADGDVGAELTRPLDKNEVKKVLDKF
YKRKEIQKLGADYGLDARLFHQAFISFRNYIMQSHSLDVDIHIVLNDICF
GAAHADDLFPFFLRHAKQIFPVLDCKDDLRKISDLRIPPNWYPDARAMQR
KIIFHSGPTNSGKTYHAIQKYFSAKSGVYCGPLKLLAHEIFEKSNAAGVP
CDLVTGEERVTVQPNGKQASHVSCTVEMCSVTTPYEVAVIDEIQMIRDPA
RGWAWTRALLGLCAEEVHLCGEPAAIDLVMELMYTTGEEVEVRDYKRLTP
ISVLDHALESLDNLRPGDCIVCFSKNDIYSVSRQIEIRGLESAVIYGSLP
PGTKLAQAKKFNDPNDPCKILVATDAIGMGLNLSIRRIIFYSLIKPSINE
KGERELEPITTSQALQIAGRAGRFSSRFKEGEVTTMNHEDLSLLKEILKR
PVDPIRAAGLHPTAEQIEMFAYHLPDATLSNLIDIFVDFSQVDGQYFVCN
MDDFKFSAELIQHIPLSLRVRYVFCTAPINKKQPFVCSSLLQFARQYSRN
EPLTFAWLRRYIKWPLLPPKNIKDLMDLEAVHDVLDLYLWLSYRFMDMFP
DASLIRDLQKELDGIIQDGVHNITKLIKMSETHKLLNLEGFPSGSQSRLS
GTLKSQARRTRGTKALGSKATEPPSPDAGELSLASRLVQQGLLTPDMLKQ
LEKEWMTQQTEHNKEKTESGTHPKGTRRKKKEPDSD

Modelni organizmi uredi

Fenotip Supv3l1 nokaut-miša
Svojstvo Fenotip
Homozigotna vijabilnost Nenormalan
Studija recesivne letalnosti Nenormalan
Plodnost Normalan
Tjelesna težina Normalan
Anksioznost otvorenog polja Normalan
Neurološka procjena Normalan
Snaga stiska Normalan
Test vruće ploče Normalan
Dismorfologija Normalan
Indirektna kalorimetrija Normalan
Test tolerancije glukoze Normalan
Slušni oddovor moždanog stabla Normalan
DEXA Normalan
Radiografija Nenormalan[9]
Tjelesna temperatura Normalan
Morphologija oka Normalan
Klinička hemija Normalan
Plazmatski imunoglobulini Normalan
Hematologija Normalan
Limfociti periferne krvi Normalan
Mikronukleus test Normalan
Težina srca Normalan
Histopatologija kože Normalan
Histopathologija mozga Normalan
Salmonella infekcija Normalan[10]
Citrobacter infekcija Normalan[11]
Svi testovi i analize su prema linku[12][13]

U proučavanju funkcije SUPV3L1 korišteni su i modelni organizmi. Uslovna nokaut-mišja linija, tzv. Supv3l1tm1a(EUCOMM)Wtsi[14][15] generirana je kao dio programa Međunarodnog konzorcija za nokaut-miševe programa-projekta velike mutageneze za generiranje i distribuciju životinjskih modela bolesti zainteresiranim znanstvenicima – na Wellcome Trust Sanger Institute.[16][17][18]

Mužjaci i ženke podvrgnuti su standardiziranom fenotipskom pregledu, kako bi se utvrdili efekti delecija.[12][19] Izvedeno je 26 testova, a prijavljena su tri značajno aberantna fenotipa. Sve homozigotne mutantne životinje uginule su prije rođenja, pa stoga nijedna nije primijećena pri odbiću. Preostali testovi provedeni su na heterozigotnim mutiranim miševima i radiografija je pokazala da su ženke imale nedostatke u poprečnim nastavcima.[12]

Reference uredi

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000156502 - Ensembl, maj 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020079 - Ensembl, maj 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. S2CID 903791.
  6. ^ Minczuk M, Mroczek S, Pawlak SD, Stepien PP (oktobar 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. S2CID 40846992.
  7. ^ "Entrez Gene: SUPV3L1 suppressor of var1, 3-like 1 (S. cerevisiae)".
  8. ^ "UniProt, Q8IYB8". Pristupljeno 5. 9. 2021.
  9. ^ "Radiography data for Supv3l1". Wellcome Trust Sanger Institute.
  10. ^ "Salmonella infection data for Supv3l1". Wellcome Trust Sanger Institute.
  11. ^ "Citrobacter infection data for Supv3l1". Wellcome Trust Sanger Institute.
  12. ^ a b c 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. S2CID 85911512.
  13. ^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  14. ^ "International Knockout Mouse Consortium". Arhivirano s originala, 20. 3. 2012. Pristupljeno 5. 9. 2021.
  15. ^ "Mouse Genome Informatics".
  16. ^ 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 (juni 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.
  17. ^ Dolgin E (juni 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  18. ^ Collins FS, Rossant J, Wurst W (januar 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  19. ^ 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.

Dopunska literatura uredi

Vanjski linkovi uredi