GEN1

GEN1
Identifikatori
AliasiGEN1
Vanjski ID-jeviOMIM: 612449 MGI: 2443149 HomoloGene: 35313 GeneCards: GEN1
Lokacija gena (čovjek)
Hromosom 2 (čovjek)
Hrom.Hromosom 2 (čovjek)[1]
Hromosom 2 (čovjek)
Genomska lokacija za GEN1
Genomska lokacija za GEN1
Bend2p24.2Početak17,753,858 bp[1]
Kraj17,788,946 bp[1]
Lokacija gena (miš)
Hromosom 12 (miš)
Hrom.Hromosom 12 (miš)[2]
Hromosom 12 (miš)
Genomska lokacija za GEN1
Genomska lokacija za GEN1
Bend12|12 A1.1Početak11,288,921 bp[2]
Kraj11,315,802 bp[2]
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
VrsteČovjekMiš
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 MbChr 12: 11.29 – 11.32 Mb
PubMed pretraga[3][4]
Wikipodaci
Pogledaj/uredi – čovjekPogledaj/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]

1020304050
MGVNDLWQILEPVKQHIPLRNLGGKTIAVDLSLWVCEAQTVKKMMGSVMK
PHLRNLFFRISYLTQMDVKLVFVMEGEPPKLKADVISKRNQSRYGSSGKS
WSQKTGRSHFKSVLRECLHMLECLGIPWVQAAGEAEAMCAYLNAGGHVDG
CLTNDGDTFLYGAQTVYRNFTMNTKDPHVDCYTMSSIKSKLGLDRDALVG
LAILLGCDYLPKGVPGVGKEQALKLIQILKGQSLLQRFNRWNETSCNSSP
QLLVTKKLAHCSVCSHPGSPKDHERNGCRLCKSDKYCEPHDYEYCCPCEW
HRTEHDRQLSEVENNIKKKACCCEGFPFHEVIQEFLLNKDKLVKVIRYQR
PDLLLFQRFTLEKMEWPNHYACEKLLVLLTHYDMIERKLGSRNSNQLQPI
RIVKTRIRNGVHCFEIEWEKPEHYAMEDKQHGEFALLTIEEESLFEAAYP
EIVAVYQKQKLEIKGKKQKRIKPKENNLPEPDEVMSFQSHMTLKPTCEIF
HKQNSKLNSGISPDPTLPQESISASLNSLLLPKNTPCLNAQEQFMSSLRP
LAIQQIKAVSKSLISESSQPNTSSHNISVIADLHLSTIDWEGTSFSNSPA
IQRNTFSHDLKSEVESELSAIPDGFENIPEQLSCESERYTANIKKVLDED
SDGISPEEHLLSGITDLCLQDLPLKERIFTKLSYPQDNLQPDVNLKTLSI
LSVKESCIANSGSDCTSHLSKDLPGIPLQNESRDSKILKGDQLLQEDYKV
NTSVPYSVSNTVVKTCNVRPPNTALDHSRKVDMQTTRKILMKKSVCLDRH
SSDEQSAPVFGKAKYTTQRMKHSSQKHNSSHFKESGHNKLSSPKIHIKET
EQCVRSYETAENEESCFPDSTKSSLSSLQCHKKENNSGTCLDSPLPLRQR
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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000178295 - Ensembl, maj 2017
  2. ^ a b c 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.
  5. ^ "Entrez Gene: GEN1, Holliday junction 5' flap endonuclease". Pristupljeno 16. 10. 2017.
  6. ^ "UniProt, Q17RS7" (jezik: engleski). Pristupljeno 12. 11. 2021.

Dopunska literatura

Vanjski linkovi

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

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