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LIG4 (DNA ligase 4)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3981
Gene nameGene Name - the full gene name approved by the HGNC.
DNA ligase 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
LIG4
SynonymsGene synonyms aliases
LIG4S
ChromosomeChromosome number
13
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q33.3
SummarySummary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs72660870 G>C,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs104894418 G>A,C Pathogenic Stop gained, missense variant, coding sequence variant
rs104894419 G>A Pathogenic-likely-pathogenic, pathogenic Stop gained, coding sequence variant
rs104894420 C>T Pathogenic Missense variant, coding sequence variant
rs104894421 C>A,T Pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021742 hsa-miR-132-3p Microarray 17612493
MIRT028768 hsa-miR-26b-5p Microarray 19088304
MIRT051082 hsa-miR-16-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000012 Process Single strand break repair IDA 8798671
GO:0000781 Component Chromosome, telomeric region IC 23275564
GO:0000793 Component Condensed chromosome IDA 12589063
GO:0001701 Process In utero embryonic development ISS
GO:0002328 Process Pro-B cell differentiation ISS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P49917
Protein name DNA ligase 4 (EC 6.5.1.1) (DNA ligase IV) (Polydeoxyribonucleotide synthase [ATP] 4)
Protein function 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.
PDB 1IK9 , 2E2W , 3II6 , 3VNN , 3W1B , 3W1G , 3W5O , 4HTO , 4HTP , 6BKF , 6BKG , 7D9K , 7D9Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04675 DNA_ligase_A_N
15 208
DNA ligase N terminus
Family
PF01068 DNA_ligase_A_M
248 451
ATP dependent DNA ligase domain
Domain
PF04679 DNA_ligase_A_C
476 588
Family
PF00533 BRCT
654 730
BRCA1 C Terminus (BRCT) domain
Family
PF11411 DNA_ligase_IV
750 783
DNA ligase IV
Family
PF00533 BRCT
813 898
BRCA1 C Terminus (BRCT) domain
Family
Sequence
MAASQTSQTVASHVPFADLCSTLERIQKSKGRAEKIRHFREFLDSWRKFHDALHKNHKDV
TDSFYPAMRLILPQLERERMAYGIKETMLAKLYIELLNLPRDGKDALKLLNYRTPTGTHG
DAGDFAMIAYFVLKPRCLQKGSLTIQQVNDLLDSIASNNSAKRKDLIKKSLLQLITQSSA
LEQKWLIRMIIKDLKLGVSQQTIFSVFH
NDAAELHNVTTDLEKVCRQLHDPSVGLSDISI
TLFSAFKPMLAAIADIEHIEKDMKHQSFYIETKLDGERMQMHKDGDVYKYFSRNGYNYTD
QFGASPTEGSLTPFIHNAFKADIQICILDGEMMAYNPNTQTFMQKGTKFDIKRMVEDSDL
QTCYCVFDVLMVNNKKLGHETLRKRYEILSSIFTPIPGRIEIVQKTQAHTKNEVIDALNE
AIDKREEGIMVKQPLSIYKPDKRGEGWLKIK
PEYVSGLMDELDILIVGGYWGKGSRGGMM
SHFLCAVAEKPPPGEKPSVFHTLSRVGSGCTMKELYDLGLKLAKYWKPFHRKAPPSSILC
GTEKPEVYIEPCNSVIVQIKAAEIVPSDMYKTGCTLRFPRIEKIRDDK
EWHECMTLDDLE
QLRGKASGKLASKHLYIGGDDEPQEKKRKAAPKMKKVIGIIEHLKAPNLTNVNKISNIFE
DVEFCVMSGTDSQPKPDLENRIAEFGGYIVQNPGPDTYCVIAGSENIRVKNIILSNKHDV
VKPAWLLECF
KTKSFVPWQPRFMIHMCPSTKEHFAREYDCYGDSYFIDTDLNQLKEVFSG
IKN
SNEQTPEEMASLIADLEYRYSWDCSPLSMFRRHTVYLDSYAVINDLSTKNEGTRLAI
KALELRFHGAKVVSCLAEGVSHVIIGEDHSRVADFKAFRRTFKRKFKILKESWVTDSI
DK
CELQEENQYLI
Sequence length 911
Interactions View interactions

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