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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

<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

  • damaged DNA binding Source: UniProtKB
  • endodeoxyribonuclease activity Source: UniProtKB
  • identical protein binding Source: IntAct
  • protein C-terminus binding Source: UniProtKB
  • protein N-terminus binding Source: UniProtKB
  • single-stranded DNA binding Source: UniProtKB
  • single-stranded DNA endodeoxyribonuclease activity Source: GO_Central
  • TFIID-class transcription factor complex binding Source: Ensembl

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

Enzyme and pathway databases

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_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:
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_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:ERCC4
Synonyms:ERCC11, XPF
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000175595.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:3436 ERCC4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
133520 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q92889

<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; 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 mutations 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.
See also OMIM:278760
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 mutations 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.
See also OMIM:610965
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 mutations 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.
See also OMIM:278760
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 mutations 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.
See also OMIM:615272
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 Publication1

Keywords - Diseasei

Cockayne syndrome, Disease mutation, 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

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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

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PharmGKBi
PA27850

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL3883316

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ERCC4

Domain mapping of disease mutations (DMDM)

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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.<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_processing_section">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

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EPDi
Q92889

MaxQB - The MaxQuant DataBase

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MaxQBi
Q92889

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

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PaxDbi
Q92889

PeptideAtlas

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PeptideAtlasi
Q92889

PRoteomics IDEntifications database

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PRIDEi
Q92889

ProteomicsDB human proteome resource

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ProteomicsDBi
75575

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q92889

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

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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

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Bgeei
ENSG00000175595 Expressed in 183 organ(s), highest expression level in adrenal tissue

CleanEx database of gene expression profiles

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CleanExi
HS_ERCC4

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92889 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92889 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB000156
HPA045828

<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

Heterodimer composed of ERCC1 and XPF/ERCC4. Interacts with SLX4/BTBD12; this interaction is direct and links the ERCC1-XPF/ERCC1 complex to SLX4, which may coordinate the action of the structure-specific endonuclease during DNA repair.6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
108384, 39 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-478 ERCC1-XPF endonuclease complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q92889

Database of interacting proteins

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DIPi
DIP-42006N

Protein interaction database and analysis system

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IntActi
Q92889, 20 interactors

Molecular INTeraction database

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MINTi
Q92889

STRING: functional protein association networks

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STRINGi
9606.ENSP00000310520

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q92889

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

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SMRi
Q92889

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...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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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_and_domains_section">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

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eggNOGi
KOG0442 Eukaryota
COG1948 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000004394

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000202204

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051500

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92889

KEGG Orthology (KO)

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KOi
K10848

Identification of Orthologs from Complete Genome Data

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OMAi
VENCVTK

Database of Orthologous Groups

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OrthoDBi
EOG091G0554

Database for complete collections of gene phylogenies

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PhylomeDBi
Q92889

TreeFam database of animal gene trees

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TreeFami
TF101234

Family and domain databases

Integrated resource of protein families, domains and functional sites

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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

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SMARTi
View protein in SMART
SM00891 ERCC4, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47781 SSF47781, 1 hit
SSF52980 SSF52980, 1 hit

TIGRFAMs; a protein family database

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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_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>Sequences (2+)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 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.<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 'canonical' 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.

Note: No experimental confirmation available.
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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. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05747733V → L. Corresponds to variant dbSNP:rs34205098Ensembl.1
Natural variantiVAR_072084150R → C Rare functional polymorphism; 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:rs2020961Ensembl.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:rs1799802EnsemblClinVar.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:rs1800069EnsemblClinVar.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 Publication1
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:rs2020957EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

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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
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

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CCDSi
CCDS32390.1 [Q92889-1]

NCBI Reference Sequences

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

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.567265

Genome annotation databases

Ensembl eukaryotic genome annotation project

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

Database of genes from NCBI RefSeq genomes

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GeneIDi
2072

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:2072

UCSC genome browser

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UCSCi
uc002dce.3 human [Q92889-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">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]
UniGeneiHs.567265

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
1Z00NMR-B834-916[»]
2A1JX-ray2.70A848-909[»]
2AQ0NMR-A/B834-916[»]
2KN7NMR-A/D842-908[»]
2MUTNMR-B834-916[»]
ProteinModelPortaliQ92889
SMRiQ92889
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108384, 39 interactors
ComplexPortaliCPX-478 ERCC1-XPF endonuclease complex
CORUMiQ92889
DIPiDIP-42006N
IntActiQ92889, 20 interactors
MINTiQ92889
STRINGi9606.ENSP00000310520

Chemistry databases

ChEMBLiCHEMBL3883316

PTM databases

iPTMnetiQ92889
PhosphoSitePlusiQ92889

Polymorphism and mutation databases

BioMutaiERCC4
DMDMi229463004

Proteomic databases

EPDiQ92889
MaxQBiQ92889
PaxDbiQ92889
PeptideAtlasiQ92889
PRIDEiQ92889
ProteomicsDBi75575

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2072
Structural Biology KnowledgebaseSearch...

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
EuPathDBiHostDB:ENSG00000175595.14

GeneCards: human genes, protein and diseases

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GeneCardsi
ERCC4
GeneReviewsiERCC4

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0038603
HIX0173284
HGNCiHGNC:3436 ERCC4
HPAiCAB000156
HPA045828
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

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0442 Eukaryota
COG1948 LUCA
GeneTreeiENSGT00390000004394
HOGENOMiHOG000202204
HOVERGENiHBG051500
InParanoidiQ92889
KOiK10848
OMAiVENCVTK
OrthoDBiEOG091G0554
PhylomeDBiQ92889
TreeFamiTF101234

Enzyme and pathway databases

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

EvolutionaryTraceiQ92889

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ERCC4

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

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GenomeRNAii
2072

Protein Ontology

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PROi
PR:Q92889

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000175595 Expressed in 183 organ(s), highest expression level in adrenal tissue
CleanExiHS_ERCC4
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

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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 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_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: November 1, 1997
Last sequence update: May 5, 2009
Last modified: December 5, 2018
This is version 195 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, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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