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Q17RS7 (GEN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 72. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Flap endonuclease GEN homolog 1

EC=3.1.-.-
Gene names
Name:GEN1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length908 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.4

Cofactor

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.

Subcellular location

Nucleus By similarity.

Sequence similarities

Belongs to the XPG/RAD2 endonuclease family. GEN subfamily.

Ontologies

Keywords
   Biological processDNA damage
DNA repair
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandMagnesium
Metal-binding
   Molecular functionEndonuclease
Hydrolase
Nuclease
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA repair

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: InterPro

endonuclease activity

Inferred from electronic annotation. Source: UniProtKB-KW

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 908908Flap endonuclease GEN homolog 1
PRO_0000314146

Regions

Region1 – 9696N-domain
Region122 – 21291I-domain

Sites

Metal binding301Magnesium 1 By similarity
Metal binding751Magnesium 1 By similarity
Metal binding1341Magnesium 1 By similarity
Metal binding1361Magnesium 1 By similarity
Metal binding1551Magnesium 2 By similarity
Metal binding1571Magnesium 2 By similarity
Metal binding2081Magnesium 2 By similarity

Natural variations

Natural variant921S → T. Ref.1 Ref.3
Corresponds to variant rs1812152 [ dbSNP | Ensembl ].
VAR_037844
Natural variant1431N → S.
Corresponds to variant rs16981869 [ dbSNP | Ensembl ].
VAR_037845
Natural variant2031I → V.
Corresponds to variant rs10177628 [ dbSNP | Ensembl ].
VAR_037846
Natural variant2751R → L in a breast cancer sample; somatic mutation. Ref.5
VAR_037847
Natural variant3101S → N. Ref.1 Ref.3
Corresponds to variant rs300175 [ dbSNP | Ensembl ].
VAR_037848
Natural variant6801T → I. Ref.1 Ref.3
Corresponds to variant rs300169 [ dbSNP | Ensembl ].
VAR_037849
Natural variant7661C → R Found in a renal cell carcinoma case; somatic mutation. Ref.6
VAR_064715
Natural variant8981R → C. Ref.1
Corresponds to variant rs17315702 [ dbSNP | Ensembl ].
VAR_037850

Sequences

Sequence LengthMass (Da)Tools
Q17RS7 [UniParc].

Last modified March 2, 2010. Version 2.
Checksum: 3C9DB87DDBD0C58F

FASTA908102,884
        10         20         30         40         50         60 
MGVNDLWQIL EPVKQHIPLR NLGGKTIAVD LSLWVCEAQT VKKMMGSVMK PHLRNLFFRI 

        70         80         90        100        110        120 
SYLTQMDVKL VFVMEGEPPK LKADVISKRN QSRYGSSGKS WSQKTGRSHF KSVLRECLHM 

       130        140        150        160        170        180 
LECLGIPWVQ AAGEAEAMCA YLNAGGHVDG CLTNDGDTFL YGAQTVYRNF TMNTKDPHVD 

       190        200        210        220        230        240 
CYTMSSIKSK LGLDRDALVG LAILLGCDYL PKGVPGVGKE QALKLIQILK GQSLLQRFNR 

       250        260        270        280        290        300 
WNETSCNSSP QLLVTKKLAH CSVCSHPGSP KDHERNGCRL CKSDKYCEPH DYEYCCPCEW 

       310        320        330        340        350        360 
HRTEHDRQLS EVENNIKKKA CCCEGFPFHE VIQEFLLNKD KLVKVIRYQR PDLLLFQRFT 

       370        380        390        400        410        420 
LEKMEWPNHY ACEKLLVLLT HYDMIERKLG SRNSNQLQPI RIVKTRIRNG VHCFEIEWEK 

       430        440        450        460        470        480 
PEHYAMEDKQ HGEFALLTIE EESLFEAAYP EIVAVYQKQK LEIKGKKQKR IKPKENNLPE 

       490        500        510        520        530        540 
PDEVMSFQSH MTLKPTCEIF HKQNSKLNSG ISPDPTLPQE SISASLNSLL LPKNTPCLNA 

       550        560        570        580        590        600 
QEQFMSSLRP LAIQQIKAVS KSLISESSQP NTSSHNISVI ADLHLSTIDW EGTSFSNSPA 

       610        620        630        640        650        660 
IQRNTFSHDL KSEVESELSA IPDGFENIPE QLSCESERYT ANIKKVLDED SDGISPEEHL 

       670        680        690        700        710        720 
LSGITDLCLQ DLPLKERIFT KLSYPQDNLQ PDVNLKTLSI LSVKESCIAN SGSDCTSHLS 

       730        740        750        760        770        780 
KDLPGIPLQN ESRDSKILKG DQLLQEDYKV NTSVPYSVSN TVVKTCNVRP PNTALDHSRK 

       790        800        810        820        830        840 
VDMQTTRKIL MKKSVCLDRH SSDEQSAPVF GKAKYTTQRM KHSSQKHNSS HFKESGHNKL 

       850        860        870        880        890        900 
SSPKIHIKET EQCVRSYETA ENEESCFPDS TKSSLSSLQC HKKENNSGTC LDSPLPLRQR 


LKLRFQST 

« Hide

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-92; ASN-310; ILE-680 AND CYS-898.
Tissue: Hippocampus.
[2]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS THR-92; ASN-310 AND ILE-680.
Tissue: Brain.
[4]"Identification of Holliday junction resolvases from humans and yeast."
Ip S.C., Rass U., Blanco M.G., Flynn H.R., Skehel J.M., West S.C.
Nature 456:357-361(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION.
[5]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-275.
[6]"Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma."
Varela I., Tarpey P., Raine K., Huang D., Ong C.K., Stephens P., Davies H., Jones D., Lin M.L., Teague J., Bignell G., Butler A., Cho J., Dalgliesh G.L., Galappaththige D., Greenman C., Hardy C., Jia M. expand/collapse author list , Latimer C., Lau K.W., Marshall J., McLaren S., Menzies A., Mudie L., Stebbings L., Largaespada D.A., Wessels L.F.A., Richard S., Kahnoski R.J., Anema J., Tuveson D.A., Perez-Mancera P.A., Mustonen V., Fischer A., Adams D.J., Rust A., Chan-On W., Subimerb C., Dykema K., Furge K., Campbell P.J., Teh B.T., Stratton M.R., Futreal P.A.
Nature 469:539-542(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-766.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK131387 mRNA. Translation: BAD18538.1.
AC093731 Genomic DNA. No translation available.
BC117204 mRNA. Translation: AAI17205.1.
BC117206 mRNA. Translation: AAI17207.1.
RefSeqNP_001123481.1. NM_001130009.1.
NP_872431.3. NM_182625.3.
XP_005262670.1. XM_005262613.2.
UniGeneHs.467793.

3D structure databases

ProteinModelPortalQ17RS7.
SMRQ17RS7. Positions 2-381.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131526. 2 interactions.
STRING9606.ENSP00000318977.

PTM databases

PhosphoSiteQ17RS7.

Polymorphism databases

DMDM290457644.

Proteomic databases

PaxDbQ17RS7.
PRIDEQ17RS7.

Protocols and materials databases

DNASU348654.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000317402; ENSP00000318977; ENSG00000178295.
ENST00000381254; ENSP00000370653; ENSG00000178295.
GeneID348654.
KEGGhsa:348654.
UCSCuc002rct.2. human.

Organism-specific databases

CTD348654.
GeneCardsGC02P017935.
H-InvDBHIX0001847.
HGNCHGNC:26881. GEN1.
HPAHPA020078.
HPA021141.
MIM612449. gene.
neXtProtNX_Q17RS7.
PharmGKBPA162389359.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0258.
HOGENOMHOG000060137.
HOVERGENHBG096402.
InParanoidQ17RS7.
KOK15338.
OMAFFRISYL.
OrthoDBEOG7C5M86.
PhylomeDBQ17RS7.
TreeFamTF323403.

Gene expression databases

ArrayExpressQ17RS7.
BgeeQ17RS7.
CleanExHS_GEN1.
GenevestigatorQ17RS7.

Family and domain databases

InterProIPR020045. 5-3_exonuclease_C.
IPR008918. HhH2.
IPR006086. XPG-I_dom.
IPR006084. XPG/Rad2.
IPR006085. XPG_DNA_repair_N.
[Graphical view]
PANTHERPTHR11081. PTHR11081. 1 hit.
PfamPF00867. XPG_I. 1 hit.
PF00752. XPG_N. 1 hit.
[Graphical view]
PRINTSPR00853. XPGRADSUPER.
SMARTSM00279. HhH2. 1 hit.
SM00484. XPGI. 1 hit.
SM00485. XPGN. 1 hit.
[Graphical view]
SUPFAMSSF47807. SSF47807. 2 hits.
ProtoNetSearch...

Other

GenomeRNAi348654.
NextBio99407.
PROQ17RS7.
SOURCESearch...

Entry information

Entry nameGEN_HUMAN
AccessionPrimary (citable) accession number: Q17RS7
Secondary accession number(s): Q17RS9, Q6ZN37
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 2, 2010
Last modified: April 16, 2014
This is version 72 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM