Reviewed, UniProtKB/Swiss-Prot Q17RS7 (GEN_HUMAN)

Names and origin

Protein names

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

Gene names

Name:

GEN1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	908 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	Endonuclease which cleaves flap structures at the junction between single-stranded DNA and double-stranded DNA. Specific for 5'-overhanging flap structures in which the 5'-upstream of the flap is completely double-stranded. Prefers the blocked-flap structures similar to those occurring at replication forks, in which the 5' single-strand overhang of the flap is double-stranded By similarity.
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
Gene Ontology (GO)
Biological process	DNA repair Inferred from electronic annotation. Source: UniProtKB-KW
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 magnesium 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	T → S: dbSNP rs1812152.		VAR_037844
	Natural variant	143	1	N → S: dbSNP rs16981869.		VAR_037845
	Natural variant	203	1	I → V: dbSNP rs10177628.		VAR_037846
	Natural variant	275	1	R → L in a breast cancer sample; somatic mutation. Ref.3		VAR_037847
	Natural variant	310	1	N → S: dbSNP rs300175.		VAR_037848
	Natural variant	680	1	I → T: dbSNP rs300169. Ref.2		VAR_037849
	Natural variant	898	1	R → C: dbSNP rs17315702. Ref.1		VAR_037850

Sequences

	Sequence		Length	Mass (Da)
	Q17RS7-1 [UniParc]. Last modified July 25, 2006. Version 1. Checksum: C9E3C64D2B882AD1	FASTA	908	102,938
	10 20 30 40 50 60 MGVNDLWQIL EPVKQHIPLR NLGGKTIAVD LSLWVCEAQT VKKMMGSVMK PHLRNLFFRI 70 80 90 100 110 120 SYLTQMDVKL VFVMEGEPPK LKADVISKRN QTRYGSSGKS 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 HRTEHDRQLN 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 DLPLKERIFI 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

[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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT CYS-898. Tissue: Hippocampus.
[2]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT THR-680. Tissue: Brain.
[3]	"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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-275.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK131387 mRNA. Translation: BAD18538.1. BC117204 mRNA. Translation: AAI17205.1. BC117206 mRNA. Translation: AAI17207.1.
IPI	IPI00295818.
RefSeq	NP_001123481.1. NP_872431.3.
UniGene	Hs.467793
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q17RS7.
Genome annotation databases
Ensembl	ENSG00000178295. Homo sapiens. [Contig view]
GeneID	348654.
KEGG	hsa:348654.
Organism-specific databases
GeneCards	GC02P017798.
HGNC	HGNC:26881. GEN1.
MIM	612449. gene.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q17RS7.
HOVERGEN	Q17RS7.
Gene expression databases
ArrayExpress	Q17RS7.
Bgee	Q17RS7.
CleanEx	HS_GEN1.
Family and domain databases
InterPro	IPR008918. HhH2. IPR019974. XPG_CS. IPR006085. XPG_DNA_repair_N. IPR006086. XPG_I. IPR006084. XPGC_Rad_DNA_repair. [Graphical view]
PANTHER	PTHR11081. XPGC_Rad. 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]
PROSITE	PS00841. XPG_1. False negative. PS00842. XPG_2. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
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:	July 25, 2006
Last modified:	June 16, 2009
This is version 29 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)