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Reviewed, UniProtKB/Swiss-Prot Q17RS7 (GEN_HUMAN)

Last modified November 25, 2008. Version 23. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Flap endonuclease GEN homolog 1
    EC=3.1.-.-
Gene names
Name: GEN1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length908 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at transcript level.

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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 By similarity.

Subcellular location

NucleusBy similarity.

Sequence similarities

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

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Ontologies

Keywords

   Biological processDNA damage
DNA repair
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   LigandMagnesium
Metal-binding
   Molecular functionEndonuclease
Hydrolase
Nuclease

Gene Ontology (GO)

   Biological processDNA repair

Inferred from electronic annotation. Source: InterPro

   Cellular componentnucleus

Inferred from electronic annotation. Source: InterPro

   Molecular functionDNA 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...

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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 binding1361Magnesium 1 By similarity

Natural variations

Natural variant921T → S: dbSNP rs1812152.
VAR_037844
Natural variant1431N → S: dbSNP rs16981869.
VAR_037845
Natural variant2031I → V: dbSNP rs10177628.
VAR_037846
Natural variant2751R → L in a breast cancer sample; somatic mutation.
VAR_037847
Natural variant3101N → S: dbSNP rs300175.
VAR_037848
Natural variant6801I → T: dbSNP rs300169.
VAR_037849
Natural variant8981R → C: dbSNP rs17315702.
VAR_037850

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Sequences

Sequence LengthMass (Da)Tools
Q17RS7-1 [UniParc].

Last modified July 25, 2006. Version 1.
Checksum: C9E3C64D2B882AD1

FASTA908102,938
        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

« Hide

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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: 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. 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: 16959974] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-275.

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Cross-references

Sequence databases

AK131387 mRNA. Translation: BAD18538.1.
BC117204 mRNA. Translation: AAI17205.1.
BC117206 mRNA. Translation: AAI17207.1.
RefSeqNP_001123481.1.
NP_872431.3.
UniGeneHs.467793

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ17RS7.

Genome annotation databases

EnsemblENSG00000178295. Homo sapiens. [Contig view]
GeneID348654.

Organism-specific databases

HGNCHGNC:26881. GEN1.
GenAtlasSearch...
GeneCardsSearch...

Phylogenomic databases

HOGENOMQ17RS7.
HOVERGENQ17RS7.

Gene expression databases

ArrayExpressQ17RS7.
CleanExHS_GEN1.

Family and domain databases

InterProIPR008918. HhH2.
IPR006085. XPG_DNA_repair_N.
IPR006086. XPG_I.
IPR006084. XPGC_Rad_DNA_repair.
[Graphical view]
PANTHERPTHR11081. XPGC_Rad. 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]
PROSITEPS00841. XPG_1. False negative.
PS00842. XPG_2. False negative.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio99407.

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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: July 25, 2006
Last modified: November 25, 2008
This is version 23 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 2

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents