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Entry version 207 (13 Feb 2019)
Sequence version 2 (07 Feb 2006)
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Protein

DNA ligase 4

Gene

LIG4

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

Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. 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.2 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • ATP + (deoxyribonucleotide)(n)-3'-hydroxyl + 5'-phospho-(deoxyribonucleotide)(m) = (deoxyribonucleotide)(n+m) + AMP + diphosphate.PROSITE-ProRule annotation EC:6.5.1.1

<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+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei271ATPBy similarity1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei273N6-AMP-lysine intermediatePROSITE-ProRule annotation1
Binding sitei278ATPBy similarity1
Binding sitei293ATPBy similarity1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi331Magnesium 1Sequence analysis1
Metal bindingi427Magnesium 2Sequence analysis1
Binding sitei432ATPBy similarity1
Binding sitei443ATPBy similarity1
Binding sitei449ATPBy similarity1

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

  • ATP binding Source: UniProtKB-KW
  • DNA binding Source: UniProtKB
  • DNA ligase (ATP) activity Source: UniProtKB
  • DNA ligase activity Source: UniProtKB
  • ligase activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • 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

Molecular functionLigase
Biological processCell cycle, Cell division, DNA damage, DNA recombination, DNA repair, DNA replication
LigandATP-binding, Magnesium, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

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BRENDAi
6.5.1.1 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-164843 2-LTR circle formation
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
P49917

SIGNOR Signaling Network Open Resource

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SIGNORi
P49917

<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 ligase 4 (EC:6.5.1.1PROSITE-ProRule annotation)
Alternative name(s):
DNA ligase IV
Polydeoxyribonucleotide synthase [ATP] 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:LIG4
<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 13

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000174405.13

Human Gene Nomenclature Database

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HGNCi
HGNC:6601 LIG4

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601837 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P49917

<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

LIG4 syndrome (LIG4S)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by immunodeficiency and developmental and growth delay. Patients display unusual facial features, microcephaly, growth and/or developmental delay, pancytopenia, and various skin abnormalities.
See also OMIM:606593
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_012774278R → H in LIG4S and leukemia; impairs activity. 3 PublicationsCorresponds to variant dbSNP:rs104894421EnsemblClinVar.1
Natural variantiVAR_012775469G → E in LIG4S. 1 PublicationCorresponds to variant dbSNP:rs104894420EnsemblClinVar.1
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity.
See also OMIM:602450
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044123433Missing in RSSCID. 1 Publication1

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNET

More...
DisGeNETi
3981

MalaCards human disease database

More...
MalaCardsi
LIG4
MIMi602450 phenotype
606593 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000174405

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

More...
Orphaneti
235 Dubowitz syndrome
99812 LIG4 syndrome
39041 Omenn syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30375

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LIG4

Domain mapping of disease mutations (DMDM)

More...
DMDMi
88911290

<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_00000595761 – 911DNA ligase 4Add BLAST911

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P49917

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P49917

MaxQB - The MaxQuant DataBase

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MaxQBi
P49917

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

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PaxDbi
P49917

PeptideAtlas

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PeptideAtlasi
P49917

PRoteomics IDEntifications database

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PRIDEi
P49917

ProteomicsDB human proteome resource

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ProteomicsDBi
56183

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P49917

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

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PhosphoSitePlusi
P49917

<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

Testis, thymus, prostate and heart.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000174405 Expressed in 210 organ(s), highest expression level in bone marrow

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P49917 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P49917 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA001334
HPA057325

<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

Interacts with XRCC4. The LIG4-XRCC4 complex has probably a 1:2 stoichiometry. 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 with APLF.9 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
110169, 133 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P49917

Database of interacting proteins

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DIPi
DIP-37958N

Protein interaction database and analysis system

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IntActi
P49917, 11 interactors

Molecular INTeraction database

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MINTi
P49917

STRING: functional protein association networks

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STRINGi
9606.ENSP00000349393

<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

1911
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
1IK9X-ray2.30C748-784[»]
2E2WNMR-A654-759[»]
3II6X-ray2.40X/Y654-911[»]
3VNNX-ray2.90A268-406[»]
3W1BX-ray2.40A1-609[»]
3W1GX-ray2.55A1-609[»]
3W5OX-ray2.84A/B1-609[»]
4HTOX-ray2.81A1-240[»]
4HTPX-ray2.25A/B1-240[»]
6BKFX-ray3.25A1-620[»]
6BKGX-ray2.40A1-620[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P49917

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

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SMRi
P49917

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
P49917

<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>Domaini654 – 743BRCT 1PROSITE-ProRule annotationAdd BLAST90
Domaini808 – 911BRCT 2PROSITE-ProRule annotationAdd BLAST104

<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 ATP-dependent DNA ligase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0966 Eukaryota
COG1793 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00860000133881

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000007831

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG005516

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P49917

KEGG Orthology (KO)

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KOi
K10777

Identification of Orthologs from Complete Genome Data

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OMAi
HMCPSTK

Database of Orthologous Groups

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OrthoDBi
274264at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P49917

TreeFam database of animal gene trees

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TreeFami
TF312980

Family and domain databases

Conserved Domains Database

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CDDi
cd00027 BRCT, 2 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.3260.10, 1 hit
3.40.50.10190, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR000977 DNA_ligase_ATP-dep
IPR012309 DNA_ligase_ATP-dep_C
IPR012310 DNA_ligase_ATP-dep_cent
IPR016059 DNA_ligase_ATP-dep_CS
IPR012308 DNA_ligase_ATP-dep_N
IPR021536 DNA_ligase_IV_dom
IPR036599 DNA_ligase_N_sf
IPR029710 LIG4
IPR012340 NA-bd_OB-fold

The PANTHER Classification System

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PANTHERi
PTHR10459:SF7 PTHR10459:SF7, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00533 BRCT, 2 hits
PF04679 DNA_ligase_A_C, 1 hit
PF01068 DNA_ligase_A_M, 1 hit
PF04675 DNA_ligase_A_N, 1 hit
PF11411 DNA_ligase_IV, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00292 BRCT, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF117018 SSF117018, 1 hit
SSF50249 SSF50249, 1 hit
SSF52113 SSF52113, 2 hits

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00574 dnl1, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50172 BRCT, 2 hits
PS00697 DNA_LIGASE_A1, 1 hit
PS00333 DNA_LIGASE_A2, 1 hit
PS50160 DNA_LIGASE_A3, 1 hit

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

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P49917-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAASQTSQTV ASHVPFADLC STLERIQKSK GRAEKIRHFR EFLDSWRKFH
60 70 80 90 100
DALHKNHKDV TDSFYPAMRL ILPQLERERM AYGIKETMLA KLYIELLNLP
110 120 130 140 150
RDGKDALKLL NYRTPTGTHG DAGDFAMIAY FVLKPRCLQK GSLTIQQVND
160 170 180 190 200
LLDSIASNNS AKRKDLIKKS LLQLITQSSA LEQKWLIRMI IKDLKLGVSQ
210 220 230 240 250
QTIFSVFHND AAELHNVTTD LEKVCRQLHD PSVGLSDISI TLFSAFKPML
260 270 280 290 300
AAIADIEHIE KDMKHQSFYI ETKLDGERMQ MHKDGDVYKY FSRNGYNYTD
310 320 330 340 350
QFGASPTEGS LTPFIHNAFK ADIQICILDG EMMAYNPNTQ TFMQKGTKFD
360 370 380 390 400
IKRMVEDSDL QTCYCVFDVL MVNNKKLGHE TLRKRYEILS SIFTPIPGRI
410 420 430 440 450
EIVQKTQAHT KNEVIDALNE AIDKREEGIM VKQPLSIYKP DKRGEGWLKI
460 470 480 490 500
KPEYVSGLMD ELDILIVGGY WGKGSRGGMM SHFLCAVAEK PPPGEKPSVF
510 520 530 540 550
HTLSRVGSGC TMKELYDLGL KLAKYWKPFH RKAPPSSILC GTEKPEVYIE
560 570 580 590 600
PCNSVIVQIK AAEIVPSDMY KTGCTLRFPR IEKIRDDKEW HECMTLDDLE
610 620 630 640 650
QLRGKASGKL ASKHLYIGGD DEPQEKKRKA APKMKKVIGI IEHLKAPNLT
660 670 680 690 700
NVNKISNIFE DVEFCVMSGT DSQPKPDLEN RIAEFGGYIV QNPGPDTYCV
710 720 730 740 750
IAGSENIRVK NIILSNKHDV VKPAWLLECF KTKSFVPWQP RFMIHMCPST
760 770 780 790 800
KEHFAREYDC YGDSYFIDTD LNQLKEVFSG IKNSNEQTPE EMASLIADLE
810 820 830 840 850
YRYSWDCSPL SMFRRHTVYL DSYAVINDLS TKNEGTRLAI KALELRFHGA
860 870 880 890 900
KVVSCLAEGV SHVIIGEDHS RVADFKAFRR TFKRKFKILK ESWVTDSIDK
910
CELQEENQYL I
Length:911
Mass (Da):103,971
Last modified:February 7, 2006 - 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:i2122813E1EFA63B9
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0C4DGV9A0A0C4DGV9_HUMAN
DNA ligase
LIG4
844Annotation score:

Annotation score:3 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 AAL77435 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAA58467 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti246F → S in CAA58467 (PubMed:7760816).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0293523A → V Associated with resistance to multiple myeloma. 1 PublicationCorresponds to variant dbSNP:rs1805389EnsemblClinVar.1
Natural variantiVAR_0338849T → I Associated with resistance to multiple myeloma. 1 PublicationCorresponds to variant dbSNP:rs1805388EnsemblClinVar.1
Natural variantiVAR_02935362D → H. Corresponds to variant dbSNP:rs3093763Ensembl.1
Natural variantiVAR_018808231P → S1 PublicationCorresponds to variant dbSNP:rs3093765Ensembl.1
Natural variantiVAR_012774278R → H in LIG4S and leukemia; impairs activity. 3 PublicationsCorresponds to variant dbSNP:rs104894421EnsemblClinVar.1
Natural variantiVAR_044123433Missing in RSSCID. 1 Publication1
Natural variantiVAR_044124461E → G. Corresponds to variant dbSNP:rs2232640Ensembl.1
Natural variantiVAR_012775469G → E in LIG4S. 1 PublicationCorresponds to variant dbSNP:rs104894420EnsemblClinVar.1
Natural variantiVAR_016771539L → F. Corresponds to variant dbSNP:rs3742212EnsemblClinVar.1
Natural variantiVAR_016772658I → V. Corresponds to variant dbSNP:rs2232641Ensembl.1
Natural variantiVAR_075826774L → P Found in a patient with microcephalic primordial dwarfism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1060499662Ensembl.1
Natural variantiVAR_016773857A → T1 PublicationCorresponds to variant dbSNP:rs2232642EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
X83441 mRNA Translation: CAA58467.1 Different initiation.
AF479264 Genomic DNA Translation: AAL77435.1 Different initiation.
AL157762 Genomic DNA No translation available.
BC037491 mRNA Translation: AAH37491.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS9508.1

Protein sequence database of the Protein Information Resource

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PIRi
I37079

NCBI Reference Sequences

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RefSeqi
NP_001091738.1, NM_001098268.1
NP_001317524.1, NM_001330595.1
NP_002303.2, NM_002312.3
NP_996820.1, NM_206937.1
XP_005254113.1, XM_005254056.1
XP_005254114.1, XM_005254057.4
XP_005254115.1, XM_005254058.3
XP_006720014.1, XM_006719951.3
XP_006720015.1, XM_006719952.1
XP_011519393.1, XM_011521091.2
XP_011519394.1, XM_011521092.2
XP_016876058.1, XM_017020569.1
XP_016876059.1, XM_017020570.1
XP_016876060.1, XM_017020571.1
XP_016876062.1, XM_017020573.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.166091

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000356922; ENSP00000349393; ENSG00000174405
ENST00000405925; ENSP00000385955; ENSG00000174405
ENST00000442234; ENSP00000402030; ENSG00000174405
ENST00000611712; ENSP00000484288; ENSG00000174405

Database of genes from NCBI RefSeq genomes

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GeneIDi
3981

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3981

UCSC genome browser

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UCSCi
uc001vqn.4 human

Keywords - Coding sequence diversityi

Polymorphism

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

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<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

LIG4base

LIG4 mutation db

NIEHS-SNPs
Wikipedia

DNA ligase entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X83441 mRNA Translation: CAA58467.1 Different initiation.
AF479264 Genomic DNA Translation: AAL77435.1 Different initiation.
AL157762 Genomic DNA No translation available.
BC037491 mRNA Translation: AAH37491.1
CCDSiCCDS9508.1
PIRiI37079
RefSeqiNP_001091738.1, NM_001098268.1
NP_001317524.1, NM_001330595.1
NP_002303.2, NM_002312.3
NP_996820.1, NM_206937.1
XP_005254113.1, XM_005254056.1
XP_005254114.1, XM_005254057.4
XP_005254115.1, XM_005254058.3
XP_006720014.1, XM_006719951.3
XP_006720015.1, XM_006719952.1
XP_011519393.1, XM_011521091.2
XP_011519394.1, XM_011521092.2
XP_016876058.1, XM_017020569.1
XP_016876059.1, XM_017020570.1
XP_016876060.1, XM_017020571.1
XP_016876062.1, XM_017020573.1
UniGeneiHs.166091

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IK9X-ray2.30C748-784[»]
2E2WNMR-A654-759[»]
3II6X-ray2.40X/Y654-911[»]
3VNNX-ray2.90A268-406[»]
3W1BX-ray2.40A1-609[»]
3W1GX-ray2.55A1-609[»]
3W5OX-ray2.84A/B1-609[»]
4HTOX-ray2.81A1-240[»]
4HTPX-ray2.25A/B1-240[»]
6BKFX-ray3.25A1-620[»]
6BKGX-ray2.40A1-620[»]
ProteinModelPortaliP49917
SMRiP49917
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110169, 133 interactors
CORUMiP49917
DIPiDIP-37958N
IntActiP49917, 11 interactors
MINTiP49917
STRINGi9606.ENSP00000349393

PTM databases

iPTMnetiP49917
PhosphoSitePlusiP49917

Polymorphism and mutation databases

BioMutaiLIG4
DMDMi88911290

Proteomic databases

EPDiP49917
jPOSTiP49917
MaxQBiP49917
PaxDbiP49917
PeptideAtlasiP49917
PRIDEiP49917
ProteomicsDBi56183

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
3981
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356922; ENSP00000349393; ENSG00000174405
ENST00000405925; ENSP00000385955; ENSG00000174405
ENST00000442234; ENSP00000402030; ENSG00000174405
ENST00000611712; ENSP00000484288; ENSG00000174405
GeneIDi3981
KEGGihsa:3981
UCSCiuc001vqn.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3981
DisGeNETi3981
EuPathDBiHostDB:ENSG00000174405.13

GeneCards: human genes, protein and diseases

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GeneCardsi
LIG4
HGNCiHGNC:6601 LIG4
HPAiHPA001334
HPA057325
MalaCardsiLIG4
MIMi601837 gene
602450 phenotype
606593 phenotype
neXtProtiNX_P49917
OpenTargetsiENSG00000174405
Orphaneti235 Dubowitz syndrome
99812 LIG4 syndrome
39041 Omenn syndrome
PharmGKBiPA30375

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0966 Eukaryota
COG1793 LUCA
GeneTreeiENSGT00860000133881
HOGENOMiHOG000007831
HOVERGENiHBG005516
InParanoidiP49917
KOiK10777
OMAiHMCPSTK
OrthoDBi274264at2759
PhylomeDBiP49917
TreeFamiTF312980

Enzyme and pathway databases

BRENDAi6.5.1.1 2681
ReactomeiR-HSA-164843 2-LTR circle formation
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
SignaLinkiP49917
SIGNORiP49917

Miscellaneous databases

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

More...
ChiTaRSi
LIG4 human
EvolutionaryTraceiP49917

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
LIG4

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

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GenomeRNAii
3981

Protein Ontology

More...
PROi
PR:P49917

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000174405 Expressed in 210 organ(s), highest expression level in bone marrow
ExpressionAtlasiP49917 baseline and differential
GenevisibleiP49917 HS

Family and domain databases

CDDicd00027 BRCT, 2 hits
Gene3Di1.10.3260.10, 1 hit
3.40.50.10190, 2 hits
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR000977 DNA_ligase_ATP-dep
IPR012309 DNA_ligase_ATP-dep_C
IPR012310 DNA_ligase_ATP-dep_cent
IPR016059 DNA_ligase_ATP-dep_CS
IPR012308 DNA_ligase_ATP-dep_N
IPR021536 DNA_ligase_IV_dom
IPR036599 DNA_ligase_N_sf
IPR029710 LIG4
IPR012340 NA-bd_OB-fold
PANTHERiPTHR10459:SF7 PTHR10459:SF7, 1 hit
PfamiView protein in Pfam
PF00533 BRCT, 2 hits
PF04679 DNA_ligase_A_C, 1 hit
PF01068 DNA_ligase_A_M, 1 hit
PF04675 DNA_ligase_A_N, 1 hit
PF11411 DNA_ligase_IV, 1 hit
SMARTiView protein in SMART
SM00292 BRCT, 2 hits
SUPFAMiSSF117018 SSF117018, 1 hit
SSF50249 SSF50249, 1 hit
SSF52113 SSF52113, 2 hits
TIGRFAMsiTIGR00574 dnl1, 1 hit
PROSITEiView protein in PROSITE
PS50172 BRCT, 2 hits
PS00697 DNA_LIGASE_A1, 1 hit
PS00333 DNA_LIGASE_A2, 1 hit
PS50160 DNA_LIGASE_A3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDNLI4_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: P49917
Secondary accession number(s): Q8IY66, Q8TEU5
<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: October 1, 1996
Last sequence update: February 7, 2006
Last modified: February 13, 2019
This is version 207 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, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 13
    Human chromosome 13: 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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