Reviewed,
UniProtKB/Swiss-Prot Q17RS7 (GEN_HUMAN)
Last modified
November 25, 2008.
Version 23.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Flap endonuclease GEN homolog 1 EC=3.1.-.- | ||
| Gene names |
| ||
| 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 By similarity. |
| Subcellular location | NucleusBy 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: InterPro |
| Cellular component | nucleus Inferred from electronic annotation. Source: InterPro |
| Molecular function | DNA binding Inferred from electronic annotation. Source: InterPro endonuclease activityInferred from electronic annotation. Source: UniProtKB-KW magnesium ion bindingInferred 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 | 136 | 1 | Magnesium 1 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. | VAR_037847 | |||||
| Natural variant | 310 | 1 | N → S: dbSNP rs300175. | VAR_037848 | |||||
| Natural variant | 680 | 1 | I → T: dbSNP rs300169. | VAR_037849 | |||||
| Natural variant | 898 | 1 | R → C: dbSNP rs17315702. | VAR_037850 | |||||
Sequences
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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. 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. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-275. |
Cross-references
Sequence databases | |
|---|---|
| AK131387 mRNA. Translation: BAD18538.1. BC117204 mRNA. Translation: AAI17205.1. BC117206 mRNA. Translation: AAI17207.1. | |
| 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. |
Organism-specific databases | |
| HGNC | HGNC:26881. GEN1. |
| GenAtlas | Search... |
| GeneCards | Search... |
Phylogenomic databases | |
| HOGENOM | Q17RS7. |
| HOVERGEN | Q17RS7. |
Gene expression databases | |
| ArrayExpress | Q17RS7. |
| CleanEx | HS_GEN1. |
Family and domain databases | |
| InterPro | IPR008918. HhH2. 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. |
Entry information
| Entry name | GEN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q17RS7 Secondary accession number(s): Q17RS9, Q6ZN37 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |

Clusters with


