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Entry version 114 (13 Feb 2019)
Sequence version 2 (02 Mar 2010)
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Protein

Flap endonuclease GEN homolog 1

Gene

GEN1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Endonuclease which resolves Holliday junctions (HJs) 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 (PubMed:19020614, PubMed:26682650). Cleaves HJs by a nick and counter-nick mechanism involving dual coordinated incisions that lead to the formation of ligatable nicked duplex products. Cleavage of the first strand is rate limiting, while second strand cleavage is rapid. Largely monomeric, dimerizes on the HJ and the first nick occurs upon dimerization at the junction (PubMed:26578604). Efficiently cleaves both single and double HJs contained within large recombination intermediates. Exhibits a weak sequence preference for incision between two G residues that reside in a T-rich region of DNA (PubMed:28049850). Has also endonuclease activity on 5'-flap and replication fork (RF) DNA substrates (PubMed:26578604).4 Publications

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+1 PublicationNote: 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.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi30Magnesium 1By similarity1
Metal bindingi75Magnesium 1Combined sources1 Publication1
Metal bindingi134Magnesium 1Combined sources1 Publication1
Metal bindingi136Magnesium 1By similarity1
Metal bindingi155Magnesium 2By similarity1
Metal bindingi157Magnesium 2By similarity1
Metal bindingi208Magnesium 2By similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA repair
LigandMagnesium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Flap endonuclease GEN homolog 1 (EC:3.1.-.-)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GEN1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000178295.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26881 GEN1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
612449 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q17RS7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi30D → N: Abolishes endonuclease activity on both Hollyday junctions and 5' flap substrates. 1 Publication1
Mutagenesisi36C → E: Abolishes endonuclease activity on both Hollyday junctions and 5' flap substrates. 1 Publication1
Mutagenesisi54R → E: Reduces by 50% endonuclease activity on both Hollyday junctions and 5' flap substrates. 1 Publication1
Mutagenesisi89R → E: No effect on endonuclease activity on Hollyday junctions. Slightly reduces endonuclease activity on 5' flap substrates. 1 Publication1
Mutagenesisi93R → E: No effect on endonuclease activity on Hollyday junctions. Slightly reduces endonuclease activity on 5' flap substrates. 1 Publication1
Mutagenesisi109H → E: Strongly reduces endonuclease activity on both Hollyday junctions and 5' flap substrates. 1 Publication1
Mutagenesisi110F → E: Reduces by 25% endonuclease activity on Hollyday junctions and by 65% on 5' flap substrates. 1 Publication1
Mutagenesisi134 – 136EAE → AAA: Abolishes endonuclease activity. 1 Publication3
Mutagenesisi380T → E: No effect on endonuclease activity on both Hollyday junctions and 5' flap substrates. 1 Publication1
Mutagenesisi404K → E: No effect on endonuclease activity on both Hollyday junctions and 5' flap substrates. 1 Publication1
Mutagenesisi406R → E: No effect on endonuclease activity on both Hollyday junctions and 5' flap substrates. 1 Publication1
Mutagenesisi438T → E: No effect on endonuclease activity on both Hollyday junctions and 5' flap substrates. 1 Publication1

Organism-specific databases

DisGeNET

More...
DisGeNETi
348654

Open Targets

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OpenTargetsi
ENSG00000178295

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162389359

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
GEN1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
290457644

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003141461 – 908Flap endonuclease GEN homolog 1Add BLAST908

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei801PhosphoserineBy similarity1
Modified residuei802PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q17RS7

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q17RS7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q17RS7

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q17RS7

PeptideAtlas

More...
PeptideAtlasi
Q17RS7

PRoteomics IDEntifications database

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PRIDEi
Q17RS7

ProteomicsDB human proteome resource

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ProteomicsDBi
61166

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q17RS7

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q17RS7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000178295 Expressed in 177 organ(s), highest expression level in intestine

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q17RS7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q17RS7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA020078
HPA021141

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Largely monomeric, dimerizes on the Holliday junction and the first nick occurs upon dimerization at the junction.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
131526, 4 interactors

Protein interaction database and analysis system

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IntActi
Q17RS7, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000318977

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1908
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5T9JX-ray3.00A/B1-505[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q17RS7

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q17RS7

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni2 – 96XPG-N domain1 PublicationAdd BLAST95
Regioni122 – 208XPG-I domain1 PublicationAdd BLAST87
Regioni208 – 3845'-3' exonuclease domain1 PublicationAdd BLAST177
Regioni390 – 464Chromodomain1 PublicationAdd BLAST75

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

XPG-N, XPG-I,5'-3' exonuclease domains interact with DNA. Contains a chromodomain that acts as additional DNA interaction site and is required for efficient DNA recognition and cleavage.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2519 Eukaryota
COG0258 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000159266

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000060137

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG096402

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q17RS7

KEGG Orthology (KO)

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KOi
K15338

Identification of Orthologs from Complete Genome Data

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OMAi
EKMEWPN

Database of Orthologous Groups

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OrthoDBi
1094524at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q17RS7

TreeFam database of animal gene trees

More...
TreeFami
TF323403

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR036279 5-3_exonuclease_C_sf
IPR008918 HhH2
IPR029060 PIN-like_dom_sf
IPR006086 XPG-I_dom
IPR006084 XPG/Rad2
IPR006085 XPG_DNA_repair_N

The PANTHER Classification System

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PANTHERi
PTHR11081 PTHR11081, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00867 XPG_I, 1 hit
PF00752 XPG_N, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00853 XPGRADSUPER

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00279 HhH2, 1 hit
SM00484 XPGI, 1 hit
SM00485 XPGN, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47807 SSF47807, 1 hit
SSF88723 SSF88723, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i3C9DB87DDBD0C58F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PLG0E9PLG0_HUMAN
Flap endonuclease GEN homolog 1
GEN1
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PM30E9PM30_HUMAN
Flap endonuclease GEN homolog 1
GEN1
93Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WXY3A0A087WXY3_HUMAN
Flap endonuclease GEN homolog 1
GEN1
129Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03784492S → T2 PublicationsCorresponds to variant dbSNP:rs1812152Ensembl.1
Natural variantiVAR_037845143N → S. Corresponds to variant dbSNP:rs16981869Ensembl.1
Natural variantiVAR_037846203I → V. Corresponds to variant dbSNP:rs10177628Ensembl.1
Natural variantiVAR_037847275R → L in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_037848310S → N2 PublicationsCorresponds to variant dbSNP:rs300175Ensembl.1
Natural variantiVAR_037849680T → I2 PublicationsCorresponds to variant dbSNP:rs300169Ensembl.1
Natural variantiVAR_064715766C → R Found in a renal cell carcinoma case; somatic mutation. 1 Publication1
Natural variantiVAR_037850898R → C1 PublicationCorresponds to variant dbSNP:rs17315702Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AK131387 mRNA Translation: BAD18538.1
AC093731 Genomic DNA No translation available.
BC117204 mRNA Translation: AAI17205.1
BC117206 mRNA Translation: AAI17207.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1691.1

NCBI Reference Sequences

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RefSeqi
NP_001123481.2, NM_001130009.2
NP_872431.4, NM_182625.4
XP_005262670.1, XM_005262613.4
XP_006712068.1, XM_006712005.3
XP_011531122.1, XM_011532820.2
XP_011531123.1, XM_011532821.2
XP_011531124.1, XM_011532822.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.467793

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000317402; ENSP00000318977; ENSG00000178295
ENST00000381254; ENSP00000370653; ENSG00000178295

Database of genes from NCBI RefSeq genomes

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GeneIDi
348654

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:348654

UCSC genome browser

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UCSCi
uc002rct.3 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS1691.1
RefSeqiNP_001123481.2, NM_001130009.2
NP_872431.4, NM_182625.4
XP_005262670.1, XM_005262613.4
XP_006712068.1, XM_006712005.3
XP_011531122.1, XM_011532820.2
XP_011531123.1, XM_011532821.2
XP_011531124.1, XM_011532822.2
UniGeneiHs.467793

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5T9JX-ray3.00A/B1-505[»]
ProteinModelPortaliQ17RS7
SMRiQ17RS7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131526, 4 interactors
IntActiQ17RS7, 2 interactors
STRINGi9606.ENSP00000318977

PTM databases

iPTMnetiQ17RS7
PhosphoSitePlusiQ17RS7

Polymorphism and mutation databases

BioMutaiGEN1
DMDMi290457644

Proteomic databases

EPDiQ17RS7
jPOSTiQ17RS7
MaxQBiQ17RS7
PaxDbiQ17RS7
PeptideAtlasiQ17RS7
PRIDEiQ17RS7
ProteomicsDBi61166

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
348654
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000317402; ENSP00000318977; ENSG00000178295
ENST00000381254; ENSP00000370653; ENSG00000178295
GeneIDi348654
KEGGihsa:348654
UCSCiuc002rct.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
348654
DisGeNETi348654
EuPathDBiHostDB:ENSG00000178295.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GEN1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0001847
HGNCiHGNC:26881 GEN1
HPAiHPA020078
HPA021141
MIMi612449 gene
neXtProtiNX_Q17RS7
OpenTargetsiENSG00000178295
PharmGKBiPA162389359

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2519 Eukaryota
COG0258 LUCA
GeneTreeiENSGT00940000159266
HOGENOMiHOG000060137
HOVERGENiHBG096402
InParanoidiQ17RS7
KOiK15338
OMAiEKMEWPN
OrthoDBi1094524at2759
PhylomeDBiQ17RS7
TreeFamiTF323403

Enzyme and pathway databases

ReactomeiR-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GEN1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
348654

Protein Ontology

More...
PROi
PR:Q17RS7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000178295 Expressed in 177 organ(s), highest expression level in intestine
ExpressionAtlasiQ17RS7 baseline and differential
GenevisibleiQ17RS7 HS

Family and domain databases

InterProiView protein in InterPro
IPR036279 5-3_exonuclease_C_sf
IPR008918 HhH2
IPR029060 PIN-like_dom_sf
IPR006086 XPG-I_dom
IPR006084 XPG/Rad2
IPR006085 XPG_DNA_repair_N
PANTHERiPTHR11081 PTHR11081, 1 hit
PfamiView protein in Pfam
PF00867 XPG_I, 1 hit
PF00752 XPG_N, 1 hit
PRINTSiPR00853 XPGRADSUPER
SMARTiView protein in SMART
SM00279 HhH2, 1 hit
SM00484 XPGI, 1 hit
SM00485 XPGN, 1 hit
SUPFAMiSSF47807 SSF47807, 1 hit
SSF88723 SSF88723, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGEN_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q17RS7
Secondary accession number(s): Q17RS9, Q6ZN37
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: March 2, 2010
Last modified: February 13, 2019
This is version 114 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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