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Q17RS7

- GEN_HUMAN

UniProt

Q17RS7 - GEN_HUMAN

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
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 2 (02 Mar 2010)
      Previous versions | rss
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    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

    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.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

    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-SubCell

    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

    ArrayExpressiQ17RS7.
    BgeeiQ17RS7.
    CleanExiHS_GEN1.
    GenevestigatoriQ17RS7.

    Organism-specific databases

    HPAiHPA020078.
    HPA021141.

    Interactioni

    Protein-protein interaction databases

    BioGridi131526. 2 interactions.
    STRINGi9606.ENSP00000318977.

    Structurei

    3D structure databases

    ProteinModelPortaliQ17RS7.
    SMRiQ17RS7. Positions 14-227.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

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

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0258.
    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

    MGVNDLWQIL EPVKQHIPLR NLGGKTIAVD LSLWVCEAQT VKKMMGSVMK    50
    PHLRNLFFRI SYLTQMDVKL VFVMEGEPPK LKADVISKRN QSRYGSSGKS 100
    WSQKTGRSHF KSVLRECLHM LECLGIPWVQ AAGEAEAMCA YLNAGGHVDG 150
    CLTNDGDTFL YGAQTVYRNF TMNTKDPHVD CYTMSSIKSK LGLDRDALVG 200
    LAILLGCDYL PKGVPGVGKE QALKLIQILK GQSLLQRFNR WNETSCNSSP 250
    QLLVTKKLAH CSVCSHPGSP KDHERNGCRL CKSDKYCEPH DYEYCCPCEW 300
    HRTEHDRQLS EVENNIKKKA CCCEGFPFHE VIQEFLLNKD KLVKVIRYQR 350
    PDLLLFQRFT LEKMEWPNHY ACEKLLVLLT HYDMIERKLG SRNSNQLQPI 400
    RIVKTRIRNG VHCFEIEWEK PEHYAMEDKQ HGEFALLTIE EESLFEAAYP 450
    EIVAVYQKQK LEIKGKKQKR IKPKENNLPE PDEVMSFQSH MTLKPTCEIF 500
    HKQNSKLNSG ISPDPTLPQE SISASLNSLL LPKNTPCLNA QEQFMSSLRP 550
    LAIQQIKAVS KSLISESSQP NTSSHNISVI ADLHLSTIDW EGTSFSNSPA 600
    IQRNTFSHDL KSEVESELSA IPDGFENIPE QLSCESERYT ANIKKVLDED 650
    SDGISPEEHL LSGITDLCLQ DLPLKERIFT KLSYPQDNLQ PDVNLKTLSI 700
    LSVKESCIAN SGSDCTSHLS KDLPGIPLQN ESRDSKILKG DQLLQEDYKV 750
    NTSVPYSVSN TVVKTCNVRP PNTALDHSRK VDMQTTRKIL MKKSVCLDRH 800
    SSDEQSAPVF GKAKYTTQRM KHSSQKHNSS HFKESGHNKL SSPKIHIKET 850
    EQCVRSYETA ENEESCFPDS TKSSLSSLQC HKKENNSGTC LDSPLPLRQR 900
    LKLRFQST 908
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 14-227.
    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.
    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

    ArrayExpressi Q17RS7.
    Bgeei Q17RS7.
    CleanExi HS_GEN1.
    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

    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: October 1, 2014
    This is version 77 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