GEN1

GEN1
Identifikatori
Aliasi	GEN1
Vanjski ID-jevi	OMIM: 612449 MGI: 2443149 HomoloGene: 35313 GeneCards: GEN1
Lokacija gena (čovjek)
Hrom.	Hromosom 2 (čovjek)
Kraj	17,788,946 bp
Lokacija gena (miš)
Hrom.	Hromosom 12 (miš)
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
	348654
	209334
	ENSG00000178295
	ENSMUSG00000051235
	Q17RS7
	Q8BMI4
	NM_001130009; NM_182625
	NM_177331
	NP_001123481; NP_872431
	NP_796305
	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.^[5]

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 908 aminokiselina, a molkekulska iežina 102.884 Da.^[6]

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).

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000178295 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000051235 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: GEN1, Holliday junction 5' flap endonuclease". Pristupljeno 16. 10. 2017.
^ "UniProt, Q17RS7" (jezik: engleski). Pristupljeno 12. 11. 2021.

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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000178295 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000051235 - 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.

[entrez-5] "Entrez Gene: GEN1, Holliday junction 5' flap endonuclease". Pristupljeno 16. 10. 2017.

[UniProt-6] "UniProt, Q17RS7" (jezik: engleski). Pristupljeno 12. 11. 2021.

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