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Q17RS7

- GEN_HUMAN

UniProt

Q17RS7 - GEN_HUMAN

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Protein

Flap endonuclease GEN homolog 1

Gene

GEN1

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi30 – 301Magnesium 1By similarity
Metal bindingi75 – 751Magnesium 1By similarity
Metal bindingi134 – 1341Magnesium 1By similarity
Metal bindingi136 – 1361Magnesium 1By similarity
Metal bindingi155 – 1551Magnesium 2By similarity
Metal bindingi157 – 1571Magnesium 2By similarity
Metal bindingi208 – 2081Magnesium 2By similarity

GO - Molecular functioni

  1. crossover junction endodeoxyribonuclease activity Source: UniProtKB
  2. DNA binding Source: InterPro
  3. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. DNA catabolic process, endonucleolytic Source: GOC
  2. double-strand break repair via homologous recombination Source: UniProtKB
  3. positive regulation of mitotic cell cycle spindle assembly checkpoint Source: UniProtKB
  4. regulation of centrosome duplication Source: UniProtKB
  5. resolution of mitotic recombination intermediates Source: UniProtKB
  6. resolution of recombination intermediates Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

Magnesium, Metal-binding

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:26881. GEN1.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. extracellular vesicular exosome Source: UniProt
  3. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162389359.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 908908Flap endonuclease GEN homolog 1PRO_0000314146Add
BLAST

Proteomic databases

MaxQBiQ17RS7.
PaxDbiQ17RS7.
PRIDEiQ17RS7.

PTM databases

PhosphoSiteiQ17RS7.

Expressioni

Gene expression databases

BgeeiQ17RS7.
CleanExiHS_GEN1.
ExpressionAtlasiQ17RS7. baseline and differential.
GenevestigatoriQ17RS7.

Organism-specific databases

HPAiHPA020078.
HPA021141.

Interactioni

Protein-protein interaction databases

BioGridi131526. 2 interactions.
STRINGi9606.ENSP00000318977.

Structurei

3D structure databases

ProteinModelPortaliQ17RS7.
SMRiQ17RS7. Positions 2-379.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 9696N-domainAdd
BLAST
Regioni122 – 21291I-domainAdd
BLAST

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0258.
GeneTreeiENSGT00640000091478.
HOGENOMiHOG000060137.
HOVERGENiHBG096402.
InParanoidiQ17RS7.
KOiK15338.
OMAiFFRISYL.
OrthoDBiEOG7C5M86.
PhylomeDBiQ17RS7.
TreeFamiTF323403.

Family and domain databases

Gene3Di3.40.50.1010. 1 hit.
InterProiIPR020045. 5-3_exonuclease_C.
IPR008918. HhH2.
IPR029060. PIN_domain-like.
IPR006086. XPG-I_dom.
IPR006085. XPG_DNA_repair_N.
[Graphical view]
PfamiPF00867. XPG_I. 1 hit.
PF00752. XPG_N. 1 hit.
[Graphical view]
SMARTiSM00279. HhH2. 1 hit.
SM00484. XPGI. 1 hit.
SM00485. XPGN. 1 hit.
[Graphical view]
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti92 – 921S → T.2 Publications
Corresponds to variant rs1812152 [ dbSNP | Ensembl ].
VAR_037844
Natural varianti143 – 1431N → S.
Corresponds to variant rs16981869 [ dbSNP | Ensembl ].
VAR_037845
Natural varianti203 – 2031I → V.
Corresponds to variant rs10177628 [ dbSNP | Ensembl ].
VAR_037846
Natural varianti275 – 2751R → L in a breast cancer sample; somatic mutation. 1 Publication
VAR_037847
Natural varianti310 – 3101S → N.2 Publications
Corresponds to variant rs300175 [ dbSNP | Ensembl ].
VAR_037848
Natural varianti680 – 6801T → I.2 Publications
Corresponds to variant rs300169 [ dbSNP | Ensembl ].
VAR_037849
Natural varianti766 – 7661C → R Found in a renal cell carcinoma case; somatic mutation. 1 Publication
VAR_064715
Natural varianti898 – 8981R → C.1 Publication
Corresponds to variant rs17315702 [ dbSNP | Ensembl ].
VAR_037850

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_001123481.1. NM_001130009.1.
NP_872431.3. NM_182625.3.
XP_005262670.1. XM_005262613.2.
XP_006712068.1. XM_006712005.1.
XP_006712069.1. XM_006712006.1.
UniGeneiHs.467793.

Genome annotation databases

EnsembliENST00000317402; ENSP00000318977; ENSG00000178295.
ENST00000381254; ENSP00000370653; ENSG00000178295.
GeneIDi348654.
KEGGihsa:348654.
UCSCiuc002rct.2. human.

Polymorphism databases

DMDMi290457644.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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 .
CCDSi CCDS1691.1.
RefSeqi NP_001123481.1. NM_001130009.1.
NP_872431.3. NM_182625.3.
XP_005262670.1. XM_005262613.2.
XP_006712068.1. XM_006712005.1.
XP_006712069.1. XM_006712006.1.
UniGenei Hs.467793.

3D structure databases

ProteinModelPortali Q17RS7.
SMRi Q17RS7. Positions 2-379.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 131526. 2 interactions.
STRINGi 9606.ENSP00000318977.

PTM databases

PhosphoSitei Q17RS7.

Polymorphism databases

DMDMi 290457644.

Proteomic databases

MaxQBi Q17RS7.
PaxDbi Q17RS7.
PRIDEi Q17RS7.

Protocols and materials databases

DNASUi 348654.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000317402 ; ENSP00000318977 ; ENSG00000178295 .
ENST00000381254 ; ENSP00000370653 ; ENSG00000178295 .
GeneIDi 348654.
KEGGi hsa:348654.
UCSCi uc002rct.2. human.

Organism-specific databases

CTDi 348654.
GeneCardsi GC02P017935.
H-InvDB HIX0001847.
HGNCi HGNC:26881. GEN1.
HPAi HPA020078.
HPA021141.
MIMi 612449. gene.
neXtProti NX_Q17RS7.
PharmGKBi PA162389359.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0258.
GeneTreei ENSGT00640000091478.
HOGENOMi HOG000060137.
HOVERGENi HBG096402.
InParanoidi Q17RS7.
KOi K15338.
OMAi FFRISYL.
OrthoDBi EOG7C5M86.
PhylomeDBi Q17RS7.
TreeFami TF323403.

Miscellaneous databases

GenomeRNAii 348654.
NextBioi 99407.
PROi Q17RS7.
SOURCEi Search...

Gene expression databases

Bgeei Q17RS7.
CleanExi HS_GEN1.
ExpressionAtlasi Q17RS7. baseline and differential.
Genevestigatori Q17RS7.

Family and domain databases

Gene3Di 3.40.50.1010. 1 hit.
InterProi IPR020045. 5-3_exonuclease_C.
IPR008918. HhH2.
IPR029060. PIN_domain-like.
IPR006086. XPG-I_dom.
IPR006085. XPG_DNA_repair_N.
[Graphical view ]
Pfami PF00867. XPG_I. 1 hit.
PF00752. XPG_N. 1 hit.
[Graphical view ]
SMARTi SM00279. HhH2. 1 hit.
SM00484. XPGI. 1 hit.
SM00485. XPGN. 1 hit.
[Graphical view ]
SUPFAMi SSF47807. SSF47807. 2 hits.
SSF88723. SSF88723. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-275.
  6. Cited for: VARIANT ARG-766.

Entry informationi

Entry nameiGEN_HUMAN
AccessioniPrimary (citable) accession number: Q17RS7
Secondary accession number(s): Q17RS9, Q6ZN37
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 2, 2010
Last modified: November 26, 2014
This is version 79 of the entry and version 2 of the sequence. [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

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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3