Q17RS7 (GEN_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Flap endonuclease GEN homolog 1
EC=3.1.-.-

Gene names

Name:

GEN1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	908 AA.
Sequence status	Complete.
Protein existence	Evidence 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 process	DNA damage DNA repair
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	Magnesium Metal-binding
Molecular function	Endonuclease Hydrolase Nuclease
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA repair Inferred from electronic annotation. Source: UniProtKB-KW nucleic acid phosphodiester bond hydrolysis Inferred from electronic annotation. Source: GOC
Cellular_component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	DNA 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 908	908	Flap endonuclease GEN homolog 1		PRO_0000314146
Regions
	Region	1 – 96	96	N-domain
	Region	122 – 212	91	I-domain
Sites
	Metal binding	30	1	Magnesium 1 By similarity
	Metal binding	75	1	Magnesium 1 By similarity
	Metal binding	134	1	Magnesium 1 By similarity
	Metal binding	136	1	Magnesium 1 By similarity
	Metal binding	155	1	Magnesium 2 By similarity
	Metal binding	157	1	Magnesium 2 By similarity
	Metal binding	208	1	Magnesium 2 By similarity
Natural variations
	Natural variant	92	1	S → T. Ref.1 Ref.3 Corresponds to variant rs1812152 [ dbSNP | Ensembl ].		VAR_037844
	Natural variant	143	1	N → S. Corresponds to variant rs16981869 [ dbSNP | Ensembl ].		VAR_037845
	Natural variant	203	1	I → V. Corresponds to variant rs10177628 [ dbSNP | Ensembl ].		VAR_037846
	Natural variant	275	1	R → L in a breast cancer sample; somatic mutation. Ref.5		VAR_037847
	Natural variant	310	1	S → N. Ref.1 Ref.3 Corresponds to variant rs300175 [ dbSNP | Ensembl ].		VAR_037848
	Natural variant	680	1	T → I. Ref.1 Ref.3 Corresponds to variant rs300169 [ dbSNP | Ensembl ].		VAR_037849
	Natural variant	766	1	C → R Found in a renal cell carcinoma case; somatic mutation. Ref.6		VAR_064715
	Natural variant	898	1	R → C. Ref.1 Corresponds to variant rs17315702 [ dbSNP | Ensembl ].		VAR_037850

Sequences

	Sequence		Length	Mass (Da)
	Q17RS7 [UniParc]. Last modified March 2, 2010. Version 2. Checksum: 3C9DB87DDBD0C58F	FASTA	908	102,884
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00295818.
RefSeq	NP_001123481.1. NM_001130009.1. NP_872431.3. NM_182625.3.
UniGene	Hs.467793.
3D structure databases
ProteinModelPortal	Q17RS7.
SMR	Q17RS7. Positions 14-227.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000318977.
PTM databases
PhosphoSite	Q17RS7.
Polymorphism databases
DMDM	290457644.
Proteomic databases
PaxDb	Q17RS7.
PRIDE	Q17RS7.
Protocols and materials databases
DNASU	348654.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000317402; ENSP00000318977; ENSG00000178295. ENST00000381254; ENSP00000370653; ENSG00000178295.
GeneID	348654.
KEGG	hsa:348654.
UCSC	uc002rct.2. human.
Organism-specific databases
CTD	348654.
GeneCards	GC02P017935.
H-InvDB	HIX0001847.
HGNC	HGNC:26881. GEN1.
HPA	HPA020078. HPA021141.
MIM	612449. gene.
neXtProt	NX_Q17RS7.
PharmGKB	PA162389359.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0258.
HOGENOM	HOG000060137.
HOVERGEN	HBG096402.
InParanoid	Q17RS7.
KO	K15338.
OMA	FFRISYL.
OrthoDB	EOG4T1HKR.
PhylomeDB	Q17RS7.
Gene expression databases
ArrayExpress	Q17RS7.
Bgee	Q17RS7.
CleanEx	HS_GEN1.
Genevestigator	Q17RS7.
Family and domain databases
InterPro	IPR020045. 5-3_exonuclease_C. IPR008918. HhH2. IPR006086. XPG-I_dom. IPR006084. XPG/Rad2. IPR006085. XPG_DNA_repair_N. [Graphical view]
PANTHER	PTHR11081. PTHR11081. 1 hit.
Pfam	PF00867. XPG_I. 1 hit. PF00752. XPG_N. 1 hit. [Graphical view]
PRINTS	PR00853. XPGRADSUPER.
SMART	SM00279. HhH2. 1 hit. SM00484. XPGI. 1 hit. SM00485. XPGN. 1 hit. [Graphical view]
SUPFAM	SSF47807. 5_3_exo_C. 1 hit.
PROSITE	PS00841. XPG_1. False negative. PS00842. XPG_2. False negative. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	348654.
NextBio	99407.
SOURCE	Search...

Entry information

Entry name

GEN_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 64 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.