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UniProtKB - Q92889 (XPF_HUMAN)

Entry version 210 (10 Feb 2021)
Sequence version 3 (05 May 2009)
Previous versions | rss
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Protein

DNA repair endonuclease XPF

Gene

ERCC4

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

Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link.1 Publication

<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+

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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 functionDNA-binding, Endonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA repair
LigandMagnesium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q92889

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5685938, HDR through Single Strand Annealing (SSA)
R-HSA-5696395, Formation of Incision Complex in GG-NER
R-HSA-5696400, Dual Incision in GG-NER
R-HSA-6782135, Dual incision in TC-NER
R-HSA-6783310, Fanconi Anemia Pathway

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q92889

<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%5Fand%5Ftaxonomy%5Fsection">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:
DNA repair endonuclease XPF (EC:3.1.-.-)
Alternative name(s):
DNA excision repair protein ERCC-4
DNA repair protein complementing XP-F cells
Xeroderma pigmentosum group F-complementing protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ERCC4
Synonyms:ERCC11, XPF
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 16

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:3436, ERCC4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		133520, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q92889

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000175595.14

<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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Xeroderma pigmentosum complementation group F (XP-F)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype.
Related information in OMIM
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_008200225I → M in XP-F. 1 PublicationCorresponds to variant dbSNP:rs764731249Ensembl.1
Natural variantiVAR_008201454R → W in XP-F. 1 Publication1
Natural variantiVAR_008202490R → Q in XP-F. 1 PublicationCorresponds to variant dbSNP:rs912480692Ensembl.1
Natural variantiVAR_008203502E → K in XP-F. 1 Publication1
Natural variantiVAR_008204513G → R in XP-F. 1 PublicationCorresponds to variant dbSNP:rs769679311Ensembl.1
Natural variantiVAR_008205529I → T in XP-F. 1 Publication1
Natural variantiVAR_008206567T → A in XP-F. 1 Publication1
Natural variantiVAR_008207605 – 611Missing in XP-F. 1 Publication7
Natural variantiVAR_013398608L → P in XP-F. 1 Publication1
Natural variantiVAR_005850799R → W in XP-F; mild; significant residual repair activity. 2 PublicationsCorresponds to variant dbSNP:rs121913049EnsemblClinVar.1
XFE progeroid syndrome (XFEPS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_034802153R → P in XFEPS. 1 PublicationCorresponds to variant dbSNP:rs121913050EnsemblClinVar.1
Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA variant form of Cockayne syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development, pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe photosensitivity, abnormal skin pigmentation, and skin cancer predisposition.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070087236C → R in XPF/CS. 1 PublicationCorresponds to variant dbSNP:rs397509403EnsemblClinVar.1
Natural variantiVAR_070088589R → W in XPF/CS. 1 PublicationCorresponds to variant dbSNP:rs147105770EnsemblClinVar.1
Fanconi anemia complementation group Q (FANCQ)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070086230L → P in FANCQ. 1 PublicationCorresponds to variant dbSNP:rs397509402EnsemblClinVar.1
Natural variantiVAR_070089689R → S in FANCQ; disruption of interstrand cross-link repair activity; no effect on protein stability. 2 PublicationsCorresponds to variant dbSNP:rs149364215EnsemblClinVar.1
Natural variantiVAR_072087786S → F in FANCQ; disruption of interstrand cross-link repair activity; no effect on protein stability. 1 PublicationCorresponds to variant dbSNP:rs1451008479Ensembl.1

Keywords - Diseasei

Cockayne syndrome, Disease variant, Dwarfism, Fanconi anemia, Xeroderma pigmentosum

Organism-specific databases

DisGeNET

More...DisGeNETi		2072

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ERCC4

MalaCards human disease database

More...MalaCardsi		ERCC4
MIMi278760, phenotype
610965, phenotype
615272, phenotype

Open Targets

More...OpenTargetsi		ENSG00000175595

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		90321, Cockayne syndrome type 1
84, Fanconi anemia
910, Xeroderma pigmentosum
220295, Xeroderma pigmentosum-Cockayne syndrome complex

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27850

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q92889, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3883316

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ERCC4

Domain mapping of disease mutations (DMDM)

More...DMDMi		229463004

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001988531 – 916DNA repair endonuclease XPFAdd BLAST916

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 residuei289N6-acetyllysineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki500Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei521PhosphoserineBy similarity1
Modified residuei764PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q92889

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q92889

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q92889

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q92889

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

More...PaxDbi		Q92889

PeptideAtlas

More...PeptideAtlasi		Q92889

PRoteomics IDEntifications database

More...PRIDEi		Q92889

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		722
75575 [Q92889-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q92889

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q92889

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

More...PhosphoSitePlusi		Q92889

<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

More...Bgeei		ENSG00000175595, Expressed in adrenal tissue and 199 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q92889, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q92889, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000175595, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Heterodimer composed of ERCC1 and ERCC4/XPF.

Interacts with SLX4/BTBD12; this interaction is direct and links the ERCC1-ERCC4/XPF complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair.

7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108384, 54 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-478, ERCC1-XPF endonuclease complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q92889

Database of interacting proteins

More...DIPi		DIP-42006N

Protein interaction database and analysis system

More...IntActi		Q92889, 28 interactors

Molecular INTeraction database

More...MINTi		Q92889

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000310520

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q92889, protein

<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

1916
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Biological Magnetic Resonance Data Bank

More...BMRBi		Q92889

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

More...SMRi		Q92889

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q92889

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini683 – 763ERCC4Add BLAST81

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>Regioni1 – 457Helicase-likeAdd BLAST457
Regioni233 – 254Leucine-zipper 1Add BLAST22
Regioni270 – 298Leucine-zipper 2Add BLAST29
Regioni658 – 813NucleaseAdd BLAST156
Regioni837 – 905HhH2, dimerization with ERCC1Add BLAST69

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi486 – 491Nuclear localization signalSequence analysis6

<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

Belongs to the XPF family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0442, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004394

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002265_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q92889

Identification of Orthologs from Complete Genome Data

More...OMAi		FHKILQA

Database of Orthologous Groups

More...OrthoDBi		324863at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q92889

TreeFam database of animal gene trees

More...TreeFami		TF101234

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR006166, ERCC4_domain
IPR011335, Restrct_endonuc-II-like
IPR010994, RuvA_2-like
IPR006167, XPF

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02732, ERCC4, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00891, ERCC4, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47781, SSF47781, 1 hit
SSF52980, SSF52980, 1 hit

TIGRFAMs; a protein family database

More...TIGRFAMsi		TIGR00596, rad1, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92889-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MESGQPARRI AMAPLLEYER QLVLELLDTD GLVVCARGLG ADRLLYHFLQ 
        60         70         80         90        100
LHCHPACLVL VLNTQPAEEE YFINQLKIEG VEHLPRRVTN EITSNSRYEV 
       110        120        130        140        150
YTQGGVIFAT SRILVVDFLT DRIPSDLITG ILVYRAHRII ESCQEAFILR 
       160        170        180        190        200
LFRQKNKRGF IKAFTDNAVA FDTGFCHVER VMRNLFVRKL YLWPRFHVAV 
       210        220        230        240        250
NSFLEQHKPE VVEIHVSMTP TMLAIQTAIL DILNACLKEL KCHNPSLEVE 
       260        270        280        290        300
DLSLENAIGK PFDKTIRHYL DPLWHQLGAK TKSLVQDLKI LRTLLQYLSQ 
       310        320        330        340        350
YDCVTFLNLL ESLRATEKAF GQNSGWLFLD SSTSMFINAR ARVYHLPDAK 
       360        370        380        390        400
MSKKEKISEK MEIKEGEETK KELVLESNPK WEALTEVLKE IEAENKESEA 
       410        420        430        440        450
LGGPGQVLIC ASDDRTCSQL RDYITLGAEA FLLRLYRKTF EKDSKAEEVW 
       460        470        480        490        500
MKFRKEDSSK RIRKSHKRPK DPQNKERAST KERTLKKKKR KLTLTQMVGK 
       510        520        530        540        550
PEELEEEGDV EEGYRREISS SPESCPEEIK HEEFDVNLSS DAAFGILKEP 
       560        570        580        590        600
LTIIHPLLGC SDPYALTRVL HEVEPRYVVL YDAELTFVRQ LEIYRASRPG 
       610        620        630        640        650
KPLRVYFLIY GGSTEEQRYL TALRKEKEAF EKLIREKASM VVPEEREGRD 
       660        670        680        690        700
ETNLDLVRGT ASADVSTDTR KAGGQEQNGT QQSIVVDMRE FRSELPSLIH 
       710        720        730        740        750
RRGIDIEPVT LEVGDYILTP EMCVERKSIS DLIGSLNNGR LYSQCISMSR 
       760        770        780        790        800
YYKRPVLLIE FDPSKPFSLT SRGALFQEIS SNDISSKLTL LTLHFPRLRI 
       810        820        830        840        850
LWCPSPHATA ELFEELKQSK PQPDAATALA ITADSETLPE SEKYNPGPQD 
       860        870        880        890        900
FLLKMPGVNA KNCRSLMHHV KNIAELAALS QDELTSILGN AANAKQLYDF 
       910 
IHTSFAEVVS KGKGKK
Length:916
Mass (Da):104,486
Last modified:May 5, 2009 - v3
<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:iC58CDE900378CCA8
GO
Isoform 2 (identifier: Q92889-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     368-372: ETKKE → GILWG
     373-916: Missing.

Show »
Length:372
Mass (Da):42,745
Checksum:i98642E13DB2EAF52
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3NI48I3NI48_HUMAN
DNA repair endonuclease XPF
ERCC4
75Annotation 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>
I3L4K0I3L4K0_HUMAN
DNA repair endonuclease XPF
ERCC4
35Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAB07689 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05747733V → L. Corresponds to variant dbSNP:rs34205098Ensembl.1
Natural variantiVAR_072084150R → C Rare functional variant; causes mild disruption of interstrand cross-link repair activity; partial loss of protein stability. 1 PublicationCorresponds to variant dbSNP:rs145402255Ensembl.1
Natural variantiVAR_034802153R → P in XFEPS. 1 PublicationCorresponds to variant dbSNP:rs121913050EnsemblClinVar.1
Natural variantiVAR_014769168A → V1 PublicationCorresponds to variant dbSNP:rs2020961EnsemblClinVar.1
Natural variantiVAR_008200225I → M in XP-F. 1 PublicationCorresponds to variant dbSNP:rs764731249Ensembl.1
Natural variantiVAR_070086230L → P in FANCQ. 1 PublicationCorresponds to variant dbSNP:rs397509402EnsemblClinVar.1
Natural variantiVAR_070087236C → R in XPF/CS. 1 PublicationCorresponds to variant dbSNP:rs397509403EnsemblClinVar.1
Natural variantiVAR_072085267R → H1 PublicationCorresponds to variant dbSNP:rs143479220Ensembl.1
Natural variantiVAR_013395379P → S2 PublicationsCorresponds to variant dbSNP:rs1799802Ensembl.1
Natural variantiVAR_013396415R → Q3 PublicationsCorresponds to variant dbSNP:rs1800067EnsemblClinVar.1
Natural variantiVAR_008201454R → W in XP-F. 1 Publication1
Natural variantiVAR_008202490R → Q in XP-F. 1 PublicationCorresponds to variant dbSNP:rs912480692Ensembl.1
Natural variantiVAR_008203502E → K in XP-F. 1 Publication1
Natural variantiVAR_008204513G → R in XP-F. 1 PublicationCorresponds to variant dbSNP:rs769679311Ensembl.1
Natural variantiVAR_008205529I → T in XP-F. 1 Publication1
Natural variantiVAR_008206567T → A in XP-F. 1 Publication1
Natural variantiVAR_013397576R → T1 PublicationCorresponds to variant dbSNP:rs1800068EnsemblClinVar.1
Natural variantiVAR_070088589R → W in XPF/CS. 1 PublicationCorresponds to variant dbSNP:rs147105770EnsemblClinVar.1
Natural variantiVAR_008207605 – 611Missing in XP-F. 1 Publication7
Natural variantiVAR_013398608L → P in XP-F. 1 Publication1
Natural variantiVAR_072086621T → A1 Publication1
Natural variantiVAR_014770662S → P1 PublicationCorresponds to variant dbSNP:rs2020955EnsemblClinVar.1
Natural variantiVAR_070089689R → S in FANCQ; disruption of interstrand cross-link repair activity; no effect on protein stability. 2 PublicationsCorresponds to variant dbSNP:rs149364215EnsemblClinVar.1
Natural variantiVAR_005849703G → D1 Publication1
Natural variantiVAR_014771706I → T1 PublicationCorresponds to variant dbSNP:rs1800069Ensembl.1
Natural variantiVAR_013399717I → T1 Publication1
Natural variantiVAR_057478768S → F. Corresponds to variant dbSNP:rs12928650Ensembl.1
Natural variantiVAR_072087786S → F in FANCQ; disruption of interstrand cross-link repair activity; no effect on protein stability. 1 PublicationCorresponds to variant dbSNP:rs1451008479Ensembl.1
Natural variantiVAR_005850799R → W in XP-F; mild; significant residual repair activity. 2 PublicationsCorresponds to variant dbSNP:rs121913049EnsemblClinVar.1
Natural variantiVAR_057479860A → D. Corresponds to variant dbSNP:rs4986933EnsemblClinVar.1
Natural variantiVAR_019201873I → V1 PublicationCorresponds to variant dbSNP:rs2020957Ensembl.1
Natural variantiVAR_013408875E → G2 PublicationsCorresponds to variant dbSNP:rs1800124EnsemblClinVar.1
Natural variantiVAR_014772912G → E. Corresponds to variant dbSNP:rs2020956Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_056341368 – 372ETKKE → GILWG in isoform 2. 1 Publication5
Alternative sequenceiVSP_056342373 – 916Missing in isoform 2. 1 PublicationAdd BLAST544

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
L77890 Genomic DNA Translation: AAB50174.1
AF491814 Genomic DNA Translation: AAL91593.1
AK289726 mRNA Translation: BAF82415.1
AC010401 Genomic DNA No translation available.
BC142631 mRNA Translation: AAI42632.1
U64315 mRNA Translation: AAB07689.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32390.1 [Q92889-1]

NCBI Reference Sequences

More...RefSeqi		NP_005227.1, NM_005236.2 [Q92889-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000311895; ENSP00000310520; ENSG00000175595 [Q92889-1]
ENST00000575156; ENSP00000459933; ENSG00000175595 [Q92889-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2072

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2072

UCSC genome browser

More...UCSCi		uc002dce.3, human [Q92889-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L77890 Genomic DNA Translation: AAB50174.1
AF491814 Genomic DNA Translation: AAL91593.1
AK289726 mRNA Translation: BAF82415.1
AC010401 Genomic DNA No translation available.
BC142631 mRNA Translation: AAI42632.1
U64315 mRNA Translation: AAB07689.1 Different initiation.
CCDSiCCDS32390.1 [Q92889-1]
RefSeqiNP_005227.1, NM_005236.2 [Q92889-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1Z00NMR-B834-916[»]
2A1JX-ray2.70A848-909[»]
2AQ0NMR-A/B834-916[»]
2KN7NMR-A/D842-908[»]
2MUTNMR-B834-916[»]
6SXAelectron microscopy3.60F1-916[»]
6SXBelectron microscopy7.90F1-916[»]
BMRBiQ92889
SMRiQ92889
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108384, 54 interactors
ComplexPortaliCPX-478, ERCC1-XPF endonuclease complex
CORUMiQ92889
DIPiDIP-42006N
IntActiQ92889, 28 interactors
MINTiQ92889
STRINGi9606.ENSP00000310520

Chemistry databases

ChEMBLiCHEMBL3883316

PTM databases

iPTMnetiQ92889
MetOSiteiQ92889
PhosphoSitePlusiQ92889

Genetic variation databases

BioMutaiERCC4
DMDMi229463004

Proteomic databases

EPDiQ92889
jPOSTiQ92889
MassIVEiQ92889
MaxQBiQ92889
PaxDbiQ92889
PeptideAtlasiQ92889
PRIDEiQ92889
ProteomicsDBi722
75575 [Q92889-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		24811, 500 antibodies

The DNASU plasmid repository

More...DNASUi		2072

Genome annotation databases

EnsembliENST00000311895; ENSP00000310520; ENSG00000175595 [Q92889-1]
ENST00000575156; ENSP00000459933; ENSG00000175595 [Q92889-2]
GeneIDi2072
KEGGihsa:2072
UCSCiuc002dce.3, human [Q92889-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2072
DisGeNETi2072

GeneCards: human genes, protein and diseases

More...GeneCardsi		ERCC4
GeneReviewsiERCC4
HGNCiHGNC:3436, ERCC4
HPAiENSG00000175595, Low tissue specificity
MalaCardsiERCC4
MIMi133520, gene
278760, phenotype
610965, phenotype
615272, phenotype
neXtProtiNX_Q92889
OpenTargetsiENSG00000175595
Orphaneti90321, Cockayne syndrome type 1
84, Fanconi anemia
910, Xeroderma pigmentosum
220295, Xeroderma pigmentosum-Cockayne syndrome complex
PharmGKBiPA27850
VEuPathDBiHostDB:ENSG00000175595.14

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0442, Eukaryota
GeneTreeiENSGT00390000004394
HOGENOMiCLU_002265_0_0_1
InParanoidiQ92889
OMAiFHKILQA
OrthoDBi324863at2759
PhylomeDBiQ92889
TreeFamiTF101234

Enzyme and pathway databases

PathwayCommonsiQ92889
ReactomeiR-HSA-5685938, HDR through Single Strand Annealing (SSA)
R-HSA-5696395, Formation of Incision Complex in GG-NER
R-HSA-5696400, Dual Incision in GG-NER
R-HSA-6782135, Dual incision in TC-NER
R-HSA-6783310, Fanconi Anemia Pathway
SIGNORiQ92889

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2072, 95 hits in 875 CRISPR screens
EvolutionaryTraceiQ92889

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		ERCC4

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

More...GenomeRNAii		2072
PharosiQ92889, Tbio

Protein Ontology

More...PROi		PR:Q92889
RNActiQ92889, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000175595, Expressed in adrenal tissue and 199 other tissues
ExpressionAtlasiQ92889, baseline and differential
GenevisibleiQ92889, HS

Family and domain databases

InterProiView protein in InterPro
IPR006166, ERCC4_domain
IPR011335, Restrct_endonuc-II-like
IPR010994, RuvA_2-like
IPR006167, XPF
PfamiView protein in Pfam
PF02732, ERCC4, 1 hit
SMARTiView protein in SMART
SM00891, ERCC4, 1 hit
SUPFAMiSSF47781, SSF47781, 1 hit
SSF52980, SSF52980, 1 hit
TIGRFAMsiTIGR00596, rad1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiXPF_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: Q92889
Secondary accession number(s): A5PKV6
, A8K111, O00140, Q8TD83
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 5, 2009
Last modified: February 10, 2021
This is version 210 of the entry and version 3 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, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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. SIMILARITY comments
    Index of protein domains and families
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