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Protein

Flap endonuclease GEN homolog 1

Gene

GEN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Endonuclease which resolves Holliday junctions by the introduction of symmetrically related cuts across the junction point, to produce nicked duplex products in which the nicks can be readily ligated. Four-way DNA intermediates, also known as Holliday junctions, are formed during homologous recombination and DNA repair, and their resolution is necessary for proper chromosome segregation.1 Publication

Cofactori

Mg2+By similarityNote: Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme. May bind an additional third magnesium ion after substrate binding.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi30Magnesium 1By similarity1
Metal bindingi75Magnesium 1By similarity1
Metal bindingi134Magnesium 1By similarity1
Metal bindingi136Magnesium 1By similarity1
Metal bindingi155Magnesium 2By similarity1
Metal bindingi157Magnesium 2By similarity1
Metal bindingi208Magnesium 2By similarity1

GO - Molecular functioni

  • crossover junction endodeoxyribonuclease activity Source: UniProtKB
  • DNA binding Source: InterPro
  • endodeoxyribonuclease activity Source: Reactome
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

  • double-strand break repair via homologous recombination Source: UniProtKB
  • positive regulation of mitotic cell cycle spindle assembly checkpoint Source: UniProtKB
  • regulation of centrosome duplication Source: UniProtKB
  • resolution of mitotic recombination intermediates Source: UniProtKB
  • resolution of recombination intermediates Source: UniProtKB

Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA repair
LigandMagnesium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.

Names & Taxonomyi

Protein namesi
Recommended name:
Flap endonuclease GEN homolog 1 (EC:3.1.-.-)
Gene namesi
Name:GEN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000178295.14.
HGNCiHGNC:26881. GEN1.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi348654.
OpenTargetsiENSG00000178295.
PharmGKBiPA162389359.

Polymorphism and mutation databases

BioMutaiGEN1.
DMDMi290457644.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003141461 – 908Flap endonuclease GEN homolog 1Add BLAST908

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei801PhosphoserineBy similarity1
Modified residuei802PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ17RS7.
MaxQBiQ17RS7.
PaxDbiQ17RS7.
PeptideAtlasiQ17RS7.
PRIDEiQ17RS7.

PTM databases

iPTMnetiQ17RS7.
PhosphoSitePlusiQ17RS7.

Expressioni

Gene expression databases

BgeeiENSG00000178295.
CleanExiHS_GEN1.
ExpressionAtlasiQ17RS7. baseline and differential.
GenevisibleiQ17RS7. HS.

Organism-specific databases

HPAiHPA020078.
HPA021141.

Interactioni

Protein-protein interaction databases

BioGridi131526. 4 interactors.
IntActiQ17RS7. 2 interactors.
STRINGi9606.ENSP00000318977.

Structurei

Secondary structure

1908
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi6 – 9Combined sources4
Turni10 – 13Combined sources4
Beta strandi15 – 18Combined sources4
Helixi19 – 22Combined sources4
Beta strandi26 – 30Combined sources5
Helixi31 – 39Combined sources9
Beta strandi45 – 47Combined sources3
Helixi51 – 65Combined sources15
Beta strandi69 – 74Combined sources6
Helixi101 – 124Combined sources24
Beta strandi128 – 130Combined sources3
Helixi135 – 144Combined sources10
Beta strandi149 – 152Combined sources4
Turni158 – 162Combined sources5
Beta strandi164 – 171Combined sources8
Beta strandi178 – 183Combined sources6
Helixi184 – 190Combined sources7
Helixi195 – 205Combined sources11
Helixi221 – 227Combined sources7
Helixi233 – 241Combined sources9
Helixi311 – 322Combined sources12
Helixi329 – 336Combined sources8
Helixi353 – 364Combined sources12
Helixi368 – 389Combined sources22
Beta strandi399 – 408Combined sources10
Beta strandi411 – 418Combined sources8
Turni429 – 431Combined sources3
Helixi432 – 435Combined sources4
Beta strandi437 – 441Combined sources5
Helixi442 – 448Combined sources7
Helixi450 – 466Combined sources17

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5T9JX-ray3.00A/B1-505[»]
ProteinModelPortaliQ17RS7.
SMRiQ17RS7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 96N-domainAdd BLAST96
Regioni122 – 212I-domainAdd BLAST91

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG2519. Eukaryota.
COG0258. LUCA.
GeneTreeiENSGT00640000091478.
HOGENOMiHOG000060137.
HOVERGENiHBG096402.
InParanoidiQ17RS7.
KOiK15338.
OMAiEKMEWPN.
OrthoDBiEOG091G07ZH.
PhylomeDBiQ17RS7.
TreeFamiTF323403.

Family and domain databases

Gene3Di3.40.50.1010. 1 hit.
InterProiView protein in InterPro
IPR036279. 5-3_exonuclease_C_sf.
IPR008918. HhH2.
IPR029060. PIN-like_dom_sf.
IPR006086. XPG-I_dom.
IPR006084. XPG/Rad2.
IPR006085. XPG_DNA_repair_N.
PANTHERiPTHR11081. PTHR11081. 2 hits.
PfamiView protein in Pfam
PF00867. XPG_I. 1 hit.
PF00752. XPG_N. 1 hit.
PRINTSiPR00853. XPGRADSUPER.
SMARTiView protein in SMART
SM00279. HhH2. 1 hit.
SM00484. XPGI. 1 hit.
SM00485. XPGN. 1 hit.
SUPFAMiSSF47807. SSF47807. 2 hits.
SSF88723. SSF88723. 1 hit.

Sequencei

Sequence statusi: Complete.

Q17RS7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGVNDLWQIL EPVKQHIPLR NLGGKTIAVD LSLWVCEAQT VKKMMGSVMK
60 70 80 90 100
PHLRNLFFRI SYLTQMDVKL VFVMEGEPPK LKADVISKRN QSRYGSSGKS
110 120 130 140 150
WSQKTGRSHF KSVLRECLHM LECLGIPWVQ AAGEAEAMCA YLNAGGHVDG
160 170 180 190 200
CLTNDGDTFL YGAQTVYRNF TMNTKDPHVD CYTMSSIKSK LGLDRDALVG
210 220 230 240 250
LAILLGCDYL PKGVPGVGKE QALKLIQILK GQSLLQRFNR WNETSCNSSP
260 270 280 290 300
QLLVTKKLAH CSVCSHPGSP KDHERNGCRL CKSDKYCEPH DYEYCCPCEW
310 320 330 340 350
HRTEHDRQLS EVENNIKKKA CCCEGFPFHE VIQEFLLNKD KLVKVIRYQR
360 370 380 390 400
PDLLLFQRFT LEKMEWPNHY ACEKLLVLLT HYDMIERKLG SRNSNQLQPI
410 420 430 440 450
RIVKTRIRNG VHCFEIEWEK PEHYAMEDKQ HGEFALLTIE EESLFEAAYP
460 470 480 490 500
EIVAVYQKQK LEIKGKKQKR IKPKENNLPE PDEVMSFQSH MTLKPTCEIF
510 520 530 540 550
HKQNSKLNSG ISPDPTLPQE SISASLNSLL LPKNTPCLNA QEQFMSSLRP
560 570 580 590 600
LAIQQIKAVS KSLISESSQP NTSSHNISVI ADLHLSTIDW EGTSFSNSPA
610 620 630 640 650
IQRNTFSHDL KSEVESELSA IPDGFENIPE QLSCESERYT ANIKKVLDED
660 670 680 690 700
SDGISPEEHL LSGITDLCLQ DLPLKERIFT KLSYPQDNLQ PDVNLKTLSI
710 720 730 740 750
LSVKESCIAN SGSDCTSHLS KDLPGIPLQN ESRDSKILKG DQLLQEDYKV
760 770 780 790 800
NTSVPYSVSN TVVKTCNVRP PNTALDHSRK VDMQTTRKIL MKKSVCLDRH
810 820 830 840 850
SSDEQSAPVF GKAKYTTQRM KHSSQKHNSS HFKESGHNKL SSPKIHIKET
860 870 880 890 900
EQCVRSYETA ENEESCFPDS TKSSLSSLQC HKKENNSGTC LDSPLPLRQR

LKLRFQST
Length:908
Mass (Da):102,884
Last modified:March 2, 2010 - v2
Checksum:i3C9DB87DDBD0C58F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03784492S → T2 PublicationsCorresponds to variant dbSNP:rs1812152Ensembl.1
Natural variantiVAR_037845143N → S. Corresponds to variant dbSNP:rs16981869Ensembl.1
Natural variantiVAR_037846203I → V. Corresponds to variant dbSNP:rs10177628Ensembl.1
Natural variantiVAR_037847275R → L in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_037848310S → N2 PublicationsCorresponds to variant dbSNP:rs300175Ensembl.1
Natural variantiVAR_037849680T → I2 PublicationsCorresponds to variant dbSNP:rs300169Ensembl.1
Natural variantiVAR_064715766C → R Found in a renal cell carcinoma case; somatic mutation. 1 Publication1
Natural variantiVAR_037850898R → C1 PublicationCorresponds to variant dbSNP:rs17315702Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK131387 mRNA. Translation: BAD18538.1.
AC093731 Genomic DNA. No translation available.
BC117204 mRNA. Translation: AAI17205.1.
BC117206 mRNA. Translation: AAI17207.1.
CCDSiCCDS1691.1.
RefSeqiNP_001123481.2. NM_001130009.2.
NP_872431.4. NM_182625.4.
XP_005262670.1. XM_005262613.4.
XP_006712068.1. XM_006712005.3.
XP_011531122.1. XM_011532820.2.
XP_011531123.1. XM_011532821.2.
XP_011531124.1. XM_011532822.2.
UniGeneiHs.467793.

Genome annotation databases

EnsembliENST00000317402; ENSP00000318977; ENSG00000178295.
ENST00000381254; ENSP00000370653; ENSG00000178295.
GeneIDi348654.
KEGGihsa:348654.
UCSCiuc002rct.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiGEN_HUMAN
AccessioniPrimary (citable) accession number: Q17RS7
Secondary accession number(s): Q17RS9, Q6ZN37
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 2, 2010
Last modified: November 22, 2017
This is version 104 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families