GEN1

GEN1
Identifikatori
Aliasi	GEN1
Vanjski ID-jevi	OMIM: 612449 MGI: 2443149 HomoloGene: 35313 GeneCards: GEN1
Lokacija gena (čovjek) Hrom. Hromosom 2 (čovjek) Bend 2p24.2 Početak 17,753,858 bp Kraj 17,788,946 bp
Lokacija gena (miš) Hrom. Hromosom 12 (miš) Bend 12|12 A1.1 Početak 11,288,921 bp Kraj 11,315,802 bp
Ontologija gena Molekularna funkcija • crossover junction endodeoxyribonuclease activity • vezivanje sa DNK • nuclease activity • endonuclease activity • catalytic activity • hydrolase activity • vezivanje iona metala • endodeoxyribonuclease activity • magnesium ion binding • four-way junction DNA binding • 5'-flap endonuclease activity • protein homodimerization activity • double-stranded DNA binding • single-stranded DNA binding • single-stranded DNA 3'-5' exodeoxyribonuclease activity • double-stranded DNA 3'-5' exodeoxyribonuclease activity • single-stranded DNA 5'-3' exodeoxyribonuclease activity • flap endonuclease activity • double-stranded DNA 5'-3' exodeoxyribonuclease activity • 5'-3' exodeoxyribonuclease activity Ćelijska komponenta • centrosom • jedro • nukleoplazma Biološki proces • resolution of recombination intermediates • positive regulation of mitotic cell cycle spindle assembly checkpoint • regulation of centrosome duplication • resolution of mitotic recombination intermediates • nucleic acid phosphodiester bond hydrolysis • cellular response to DNA damage stimulus • GO:0100026 Popravka DNK • double-strand break repair via homologous recombination • replication fork processing • DNA catabolic process, endonucleolytic • DNA catabolic process, exonucleolytic • UV-damage excision repair Izvori:Amigo / QuickGO
Ortolozi
Vrste	Čovjek	Miš
Entrez	348654	209334
Ensembl	ENSG00000178295	ENSMUSG00000051235
UniProt	Q17RS7	Q8BMI4
RefSeq (mRNK)	NM_001130009 NM_182625	NM_177331
RefSeq (bjelančevina)	NP_001123481 NP_872431	NP_796305
Lokacija (UCSC)	Chr 2: 17.75 – 17.79 Mb	Chr 12: 11.29 – 11.32 Mb
PubMed pretraga
Wikipodaci
Pogledaj/uredi – čovjek Pogledaj/uredi – miš

GEN1, Hollidayeva spojna 5' zalisna endonukleaza jest enzim koji je kod ljudi kodiran genom GEN1 sa hromosoma 2.

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 908 aminokiselina, a molkekulska iežina 102.884 Da.

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MGVNDLWQIL		EPVKQHIPLR		NLGGKTIAVD		LSLWVCEAQT		VKKMMGSVMK
PHLRNLFFRI		SYLTQMDVKL		VFVMEGEPPK		LKADVISKRN		QSRYGSSGKS
WSQKTGRSHF		KSVLRECLHM		LECLGIPWVQ		AAGEAEAMCA		YLNAGGHVDG
CLTNDGDTFL		YGAQTVYRNF		TMNTKDPHVD		CYTMSSIKSK		LGLDRDALVG
LAILLGCDYL		PKGVPGVGKE		QALKLIQILK		GQSLLQRFNR		WNETSCNSSP
QLLVTKKLAH		CSVCSHPGSP		KDHERNGCRL		CKSDKYCEPH		DYEYCCPCEW
HRTEHDRQLS		EVENNIKKKA		CCCEGFPFHE		VIQEFLLNKD		KLVKVIRYQR
PDLLLFQRFT		LEKMEWPNHY		ACEKLLVLLT		HYDMIERKLG		SRNSNQLQPI
RIVKTRIRNG		VHCFEIEWEK		PEHYAMEDKQ		HGEFALLTIE		EESLFEAAYP
EIVAVYQKQK		LEIKGKKQKR		IKPKENNLPE		PDEVMSFQSH		MTLKPTCEIF
HKQNSKLNSG		ISPDPTLPQE		SISASLNSLL		LPKNTPCLNA		QEQFMSSLRP
LAIQQIKAVS		KSLISESSQP		NTSSHNISVI		ADLHLSTIDW		EGTSFSNSPA
IQRNTFSHDL		KSEVESELSA		IPDGFENIPE		QLSCESERYT		ANIKKVLDED
SDGISPEEHL		LSGITDLCLQ		DLPLKERIFT		KLSYPQDNLQ		PDVNLKTLSI
LSVKESCIAN		SGSDCTSHLS		KDLPGIPLQN		ESRDSKILKG		DQLLQEDYKV
NTSVPYSVSN		TVVKTCNVRP		PNTALDHSRK		VDMQTTRKIL		MKKSVCLDRH
SSDEQSAPVF		GKAKYTTQRM		KHSSQKHNSS		HFKESGHNKL		SSPKIHIKET
EQCVRSYETA		ENEESCFPDS		TKSSLSSLQC		HKKENNSGTC		LDSPLPLRQR
LKLRFQST

Funkcija

Ovaj gen kodira člana grupe G porodice nukleaza xeroderma pigmentosum čije članove karakteriziraju N-terminalni i unutrašnji domeni nukleazne grupe G xeroderma pigmentosum, praćeni heliks-ukosnica-heliks domenom i neuređenim C-terminalnim domenom. Protein kodiran ovim genom uključen je u razlučivanje Hollidayevih spojeva, koji su srednje četverosmjerne strukture koje kovalentno povezuju DNK tokom homologne rekombinacije i popravke dvolančanog prekida. Protein razrješava Hollidayeve spojeve stvaranjem dvostrukih rezova preko spoja kako bi se proizveli dupleks proizvodi koji se mogu ligirati. Osim toga, utvrđeno je da se ovaj protein nalazi na centrosomima, gdje je uključen u regulaciju integriteta centrosoma. Alternativna prerada rezultira višestrukim varijantama transkripta (prema RefSeq, juli 2016).

Dopunska literatura

• Ip SC, Rass U, Blanco MG, Flynn HR, Skehel JM, West SC (2008). "Identification of Holliday junction resolvases from humans and yeast". Nature. 456 (7220): 357–61. Bibcode:2008Natur.456..357I. doi:10.1038/nature07470. PMID 19020614. S2CID 4362699.
• Lorenz A, West SC, Whitby MC (2010). "The human Holliday junction resolvase GEN1 rescues the meiotic phenotype of a Schizosaccharomyces pombe mus81 mutant". Nucleic Acids Res. 38 (6): 1866–73. doi:10.1093/nar/gkp1179. PMC 2847240. PMID 20040574.
• Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR (2010). "Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score". Mol. Med. 16 (7–8): 247–53. doi:10.2119/molmed.2009.00159. PMC 2896464. PMID 20379614.
• Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D, Stratton MR, Rahman N (2010). "Mutation and association analysis of GEN1 in breast cancer susceptibility". Breast Cancer Res. Treat. 124 (1): 283–8. doi:10.1007/s10549-010-0949-1. PMC 3632835. PMID 20512659.
• Turnbull C, Hines S, Renwick A, Hughes D, Pernet D, Elliott A, Seal S, Warren-Perry M, Gareth Evans D, Eccles D, Stratton MR, Rahman N (2010). "Mutation and association analysis of GEN1 in breast cancer susceptibility". Breast Cancer Res. Treat. 124 (1): 283–8. doi:10.1007/s10549-010-0949-1. PMC 3632835. PMID 20512659.
• Liu Y, Shete S, Wang LE, El-Zein R, Etzel CJ, Liang FW, Armstrong G, Tsavachidis S, Gilbert MR, Aldape KD, Xing J, Wu X, Wei Q, Bondy ML (2010). "Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk". Carcinogenesis. 31 (10): 1762–9. doi:10.1093/carcin/bgq141. PMC 2981459. PMID 20610542.
• Rass U, Compton SA, Matos J, Singleton MR, Ip SC, Blanco MG, Griffith JD, West SC (2010). "Mechanism of Holliday junction resolution by the human GEN1 protein". Genes Dev. 24 (14): 1559–69. doi:10.1101/gad.585310. PMC 2904945. PMID 20634321.
• Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A (2010). "Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study". Mutat. Res. 694 (1–2): 13–9. doi:10.1016/j.mrfmmm.2010.08.006. PMID 20800603.
• Rodrigue A, Coulombe Y, Jacquet K, Gagné JP, Roques C, Gobeil S, Poirier G, Masson JY (2013). "The RAD51 paralogs ensure cellular protection against mitotic defects and aneuploidy". J. Cell Sci. 126 (Pt 1): 348–59. doi:10.1242/jcs.114595. PMID 23108668.

Vanjski linkovi

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.