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Entry version 179 (13 Feb 2019)
Sequence version 2 (01 Mar 2004)
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Protein

DNA repair protein XRCC4

Gene

XRCC4

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

Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to DNA and to DNA ligase IV (LIG4). The LIG4-XRCC4 complex is responsible for the NHEJ ligation step, and XRCC4 enhances the joining activity of LIG4. Binding of the LIG4-XRCC4 complex to DNA ends is dependent on the assembly of the DNA-dependent protein kinase complex DNA-PK to these DNA ends.4 Publications

<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

  • identical protein binding Source: IntAct
  • protein C-terminus binding Source: UniProtKB

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

Biological processDNA damage, DNA recombination, DNA repair

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-164843 2-LTR circle formation
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)

<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 protein XRCC4
Alternative name(s):
X-ray repair cross-complementing protein 4
<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:XRCC4
<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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000152422.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12831 XRCC4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
194363 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q13426

<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

Short stature, microcephaly, and endocrine dysfunction (SSMED)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. In affected adults endocrine features include hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus. Variable features observed in some patients are progressive ataxia, and lymphopenia or borderline leukopenia.
See also OMIM:616541
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_07582243W → R in SSMED; impairs the protein function in DNA double-strand break repair. 3 PublicationsCorresponds to variant dbSNP:rs587779351EnsemblClinVar.1
Natural variantiVAR_075823161R → Q in SSMED; no expression of the protein is observed; complete loss of function in DNA double-strand break repair. 1 PublicationCorresponds to variant dbSNP:rs797045017EnsemblClinVar.1

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>Mutagenesisi140K → R: No change in sumoylation. 1 Publication1
Mutagenesisi210K → R: Abolishes sumoylation. No nuclear location. 5-fold decrease in recombination efficiency. 1 Publication1

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
7518

MalaCards human disease database

More...
MalaCardsi
XRCC4
MIMi616541 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000152422

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

More...
Orphaneti
99812 LIG4 syndrome
436182 Microcephalic primordial dwarfism-insulin resistance syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37423

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB03963 S-(Dimethylarsenic)Cysteine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
XRCC4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
44888352

<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_00000660471 – 336DNA repair protein XRCC4Add BLAST336

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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-linki210Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
<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 residuei229PhosphotyrosineCombined sources1
Modified residuei233PhosphothreonineCombined sources1
Modified residuei237PhosphoserineCombined sources1
Modified residuei256PhosphoserineCombined sources1
Modified residuei260Phosphoserine; by PRKDCCombined sources1 Publication1
Modified residuei304PhosphoserineCombined sources1
Modified residuei320Phosphoserine; by PRKDCCombined sources1 Publication1
Modified residuei323PhosphothreonineBy similarity1
Modified residuei327PhosphoserineCombined sources1
Modified residuei328PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by PRKDC. The phosphorylation seems not to be necessary for binding to DNA. Phosphorylation by CK2 promotes interaction with APTX.6 Publications
Monoubiquitinated.
Sumoylation at Lys-210 is required for nuclear localization and recombination efficiency. Has no effect on ubiquitination.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q13426

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q13426

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q13426

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

More...
PaxDbi
Q13426

PeptideAtlas

More...
PeptideAtlasi
Q13426

PRoteomics IDEntifications database

More...
PRIDEi
Q13426

ProteomicsDB human proteome resource

More...
ProteomicsDBi
59412
59413 [Q13426-2]
59414 [Q13426-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q13426

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

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PhosphoSitePlusi
Q13426

Miscellaneous databases

CutDB - Proteolytic event database

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PMAP-CutDBi
Q13426

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000152422 Expressed in 185 organ(s), highest expression level in myocardium

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q13426 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q13426 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA006801
HPA051538

<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

Homodimer and homotetramer in solution. The homodimer associates with LIG4. The LIG4-XRCC4 complex associates in a DNA-dependent manner with the DNA-PK complex composed of PRKDC, XRCC6/Ku70 and XRCC5/Ku86 to form the core non-homologous end joining (NHEJ) complex. Additional components of the NHEJ complex include NHEJ1/XLF and PAXX. Interacts directly with PRKDC but not with the XRCC6/Ku70 and XRCC5/Ku86 dimer. Interacts with APTX and APLF.15 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)

More...
BioGridi
113352, 51 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q13426

Database of interacting proteins

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DIPi
DIP-37957N

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
Q13426

Protein interaction database and analysis system

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IntActi
Q13426, 22 interactors

Molecular INTeraction database

More...
MINTi
Q13426

STRING: functional protein association networks

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STRINGi
9606.ENSP00000342011

<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

1336
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
1FU1X-ray2.70A/B1-203[»]
1IK9X-ray2.30A/B1-213[»]
3II6X-ray2.40A/B/C/D1-203[»]
3MUDX-ray2.20A/B2-133[»]
3Q4FX-ray5.50C/D/G/H1-157[»]
3RWRX-ray3.94A/B/F/G/J/K/N/P/R/U/V/Y1-157[»]
3SR2X-ray3.97A/B/E/F1-140[»]
3W03X-ray8.49C/D1-164[»]
4XA4X-ray2.33A/B2-147[»]
5CHXX-ray2.30A/B2-143[»]
5CJ0X-ray2.30A/B2-142[»]
5CJ4X-ray3.10A/B/C/D2-144[»]
5E50X-ray1.38C/D229-236[»]
5WJ7X-ray2.50A/B2-132[»]
5WLZX-ray3.50A/B/C/D2-132[»]

Database of protein disorder

More...
DisProti
DP00152

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q13426

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

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SMRi
Q13426

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

More...
EvolutionaryTracei
Q13426

<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>Regioni180 – 213Interaction with LIG4Add BLAST34

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili131 – 165Sequence analysisAdd BLAST35
Coiled coili184 – 212Sequence analysisAdd BLAST29

<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 XRCC4 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IJSN Eukaryota
ENOG410Y7Z3 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000017079

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000013067

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG059517

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q13426

KEGG Orthology (KO)

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KOi
K10886

Identification of Orthologs from Complete Genome Data

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OMAi
NFSKESC

Database of Orthologous Groups

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OrthoDBi
940052at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q13426

TreeFam database of animal gene trees

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TreeFami
TF101204

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR010585 DNA_repair_prot_XRCC4
IPR009089 XRCC4_N_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06632 XRCC4, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50809 SSF50809, 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 (3)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 3 <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
Isoform 1 (identifier: Q13426-1) [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
MERKISRIHL VSEPSITHFL QVSWEKTLES GFVITLTDGH SAWTGTVSES
60 70 80 90 100
EISQEADDMA MEKGKYVGEL RKALLSGAGP ADVYTFNFSK ESCYFFFEKN
110 120 130 140 150
LKDVSFRLGS FNLEKVENPA EVIRELICYC LDTIAENQAK NEHLQKENER
160 170 180 190 200
LLRDWNDVQG RFEKCVSAKE ALETDLYKRF ILVLNEKKTK IRSLHNKLLN
210 220 230 240 250
AAQEREKDIK QEGETAICSE MTADRDPVYD ESTDEESENQ TDLSGLASAA
260 270 280 290 300
VSKDDSIISS LDVTDIAPSR KRRQRMQRNL GTEPKMAPQE NQLQEKENSR
310 320 330
PDSSLPETSK KEHISAENMS LETLRNSSPE DLFDEI
Length:336
Mass (Da):38,287
Last modified:March 1, 2004 - 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:iBE5FB99153479A4E
GO
Isoform 2 (identifier: Q13426-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     298-300: NSR → K

Show »
Length:334
Mass (Da):38,058
Checksum:iE32CC403854DCE9B
GO
Isoform 3 (identifier: Q13426-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     298-336: NSRPDSSLPETSKKEHISAENMSLETLRNSSPEDLFDEI → KGRKKETSEKEAV

Show »
Length:310
Mass (Da):35,372
Checksum:i30B8DCC13C64A548
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02231012S → C1 PublicationCorresponds to variant dbSNP:rs28383138Ensembl.1
Natural variantiVAR_07582243W → R in SSMED; impairs the protein function in DNA double-strand break repair. 3 PublicationsCorresponds to variant dbSNP:rs587779351EnsemblClinVar.1
Natural variantiVAR_02231156A → T1 PublicationCorresponds to variant dbSNP:rs28383151Ensembl.1
Natural variantiVAR_022312134I → T1 PublicationCorresponds to variant dbSNP:rs28360135Ensembl.1
Natural variantiVAR_022313142E → Q1 PublicationCorresponds to variant dbSNP:rs28360136Ensembl.1
Natural variantiVAR_075823161R → Q in SSMED; no expression of the protein is observed; complete loss of function in DNA double-strand break repair. 1 PublicationCorresponds to variant dbSNP:rs797045017EnsemblClinVar.1
Natural variantiVAR_017810240Q → P. Corresponds to variant dbSNP:rs2974446Ensembl.1
Natural variantiVAR_017811247A → S1 PublicationCorresponds to variant dbSNP:rs3734091Ensembl.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_009474298 – 336NSRPD…LFDEI → KGRKKETSEKEAV in isoform 3. 2 PublicationsAdd BLAST39
Alternative sequenceiVSP_009473298 – 300NSR → K in isoform 2. 1 Publication3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
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
U40622 mRNA Translation: AAC50339.1
AF055285
, AF055279, AF055280, AF055281, AF055282, AF055283, AF055284 Genomic DNA Translation: AAD47297.1
AF055285
, AF055279, AF055280, AF055281, AF055282, AF055283, AF055284 Genomic DNA Translation: AAD47298.1
AB017445 mRNA Translation: BAB20668.1
BT007216 mRNA Translation: AAP35880.1
AK290739 mRNA Translation: BAF83428.1
AY940097 Genomic DNA Translation: AAX14046.1
CH471084 Genomic DNA Translation: EAW95898.1
BC005259 mRNA Translation: AAH05259.1
BC016314 mRNA Translation: AAH16314.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS4058.1 [Q13426-2]
CCDS4059.1 [Q13426-1]

NCBI Reference Sequences

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RefSeqi
NP_001304941.1, NM_001318012.1 [Q13426-1]
NP_001304942.1, NM_001318013.1 [Q13426-3]
NP_003392.1, NM_003401.4 [Q13426-2]
NP_071801.1, NM_022406.3 [Q13426-1]
NP_072044.1, NM_022550.3 [Q13426-2]
XP_011541928.1, XM_011543626.1 [Q13426-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.567359

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000282268; ENSP00000282268; ENSG00000152422 [Q13426-2]
ENST00000338635; ENSP00000342011; ENSG00000152422 [Q13426-1]
ENST00000396027; ENSP00000379344; ENSG00000152422 [Q13426-2]
ENST00000511817; ENSP00000421491; ENSG00000152422 [Q13426-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
7518

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:7518

UCSC genome browser

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UCSCi
uc003kib.4 human [Q13426-1]

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

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U40622 mRNA Translation: AAC50339.1
AF055285
, AF055279, AF055280, AF055281, AF055282, AF055283, AF055284 Genomic DNA Translation: AAD47297.1
AF055285
, AF055279, AF055280, AF055281, AF055282, AF055283, AF055284 Genomic DNA Translation: AAD47298.1
AB017445 mRNA Translation: BAB20668.1
BT007216 mRNA Translation: AAP35880.1
AK290739 mRNA Translation: BAF83428.1
AY940097 Genomic DNA Translation: AAX14046.1
CH471084 Genomic DNA Translation: EAW95898.1
BC005259 mRNA Translation: AAH05259.1
BC016314 mRNA Translation: AAH16314.1
CCDSiCCDS4058.1 [Q13426-2]
CCDS4059.1 [Q13426-1]
RefSeqiNP_001304941.1, NM_001318012.1 [Q13426-1]
NP_001304942.1, NM_001318013.1 [Q13426-3]
NP_003392.1, NM_003401.4 [Q13426-2]
NP_071801.1, NM_022406.3 [Q13426-1]
NP_072044.1, NM_022550.3 [Q13426-2]
XP_011541928.1, XM_011543626.1 [Q13426-1]
UniGeneiHs.567359

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FU1X-ray2.70A/B1-203[»]
1IK9X-ray2.30A/B1-213[»]
3II6X-ray2.40A/B/C/D1-203[»]
3MUDX-ray2.20A/B2-133[»]
3Q4FX-ray5.50C/D/G/H1-157[»]
3RWRX-ray3.94A/B/F/G/J/K/N/P/R/U/V/Y1-157[»]
3SR2X-ray3.97A/B/E/F1-140[»]
3W03X-ray8.49C/D1-164[»]
4XA4X-ray2.33A/B2-147[»]
5CHXX-ray2.30A/B2-143[»]
5CJ0X-ray2.30A/B2-142[»]
5CJ4X-ray3.10A/B/C/D2-144[»]
5E50X-ray1.38C/D229-236[»]
5WJ7X-ray2.50A/B2-132[»]
5WLZX-ray3.50A/B/C/D2-132[»]
DisProtiDP00152
ProteinModelPortaliQ13426
SMRiQ13426
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113352, 51 interactors
CORUMiQ13426
DIPiDIP-37957N
ELMiQ13426
IntActiQ13426, 22 interactors
MINTiQ13426
STRINGi9606.ENSP00000342011

Chemistry databases

DrugBankiDB03963 S-(Dimethylarsenic)Cysteine

PTM databases

iPTMnetiQ13426
PhosphoSitePlusiQ13426

Polymorphism and mutation databases

BioMutaiXRCC4
DMDMi44888352

Proteomic databases

EPDiQ13426
jPOSTiQ13426
MaxQBiQ13426
PaxDbiQ13426
PeptideAtlasiQ13426
PRIDEiQ13426
ProteomicsDBi59412
59413 [Q13426-2]
59414 [Q13426-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
7518
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282268; ENSP00000282268; ENSG00000152422 [Q13426-2]
ENST00000338635; ENSP00000342011; ENSG00000152422 [Q13426-1]
ENST00000396027; ENSP00000379344; ENSG00000152422 [Q13426-2]
ENST00000511817; ENSP00000421491; ENSG00000152422 [Q13426-1]
GeneIDi7518
KEGGihsa:7518
UCSCiuc003kib.4 human [Q13426-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
7518
DisGeNETi7518
EuPathDBiHostDB:ENSG00000152422.15

GeneCards: human genes, protein and diseases

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GeneCardsi
XRCC4
HGNCiHGNC:12831 XRCC4
HPAiHPA006801
HPA051538
MalaCardsiXRCC4
MIMi194363 gene
616541 phenotype
neXtProtiNX_Q13426
OpenTargetsiENSG00000152422
Orphaneti99812 LIG4 syndrome
436182 Microcephalic primordial dwarfism-insulin resistance syndrome
PharmGKBiPA37423

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJSN Eukaryota
ENOG410Y7Z3 LUCA
GeneTreeiENSGT00390000017079
HOGENOMiHOG000013067
HOVERGENiHBG059517
InParanoidiQ13426
KOiK10886
OMAiNFSKESC
OrthoDBi940052at2759
PhylomeDBiQ13426
TreeFamiTF101204

Enzyme and pathway databases

ReactomeiR-HSA-164843 2-LTR circle formation
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)

Miscellaneous databases

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

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ChiTaRSi
XRCC4 human
EvolutionaryTraceiQ13426

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
XRCC4

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

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GenomeRNAii
7518
PMAP-CutDBiQ13426

Protein Ontology

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PROi
PR:Q13426

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000152422 Expressed in 185 organ(s), highest expression level in myocardium
ExpressionAtlasiQ13426 baseline and differential
GenevisibleiQ13426 HS

Family and domain databases

InterProiView protein in InterPro
IPR010585 DNA_repair_prot_XRCC4
IPR009089 XRCC4_N_sf
PfamiView protein in Pfam
PF06632 XRCC4, 1 hit
SUPFAMiSSF50809 SSF50809, 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 nameiXRCC4_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: Q13426
Secondary accession number(s): A8K3X4, Q9BS72, Q9UP94
<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: March 1, 2004
Last sequence update: March 1, 2004
Last modified: February 13, 2019
This is version 179 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 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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