Description: Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA. RefSeq Summary (NM_013975): This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr17:33,307,517-33,332,088 Size: 24,572 Total Exon Count: 20 Strand: + Coding Region Position: hg19 chr17:33,310,025-33,331,525 Size: 21,501 Coding Exon Count: 19
To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): LIG3 CDC HuGE Published Literature: LIG3 Positive Disease Associations: Electrocardiography
, QT interval Related Studies:
Electrocardiography Christopher Newton-Cheh et al. Nature genetics 2009, Common variants at ten loci influence QT interval duration in the QTGEN Study., Nature genetics.
[PubMed 19305408]
QT interval Newton-Cheh ,et al. 2009, Common variants at ten loci influence QT interval duation in the QTGEN Study, Nature genetics 2009 41- 4 : 399-406.
[PubMed 19305408]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00645 - Poly(ADP-ribose) polymerase and DNA-Ligase Zn-finger region PF01068 - ATP dependent DNA ligase domain PF04675 - DNA ligase N terminus PF04679 - ATP dependent DNA ligase C terminal region PF16589 - BRCT domain, a BRCA1 C-terminus domain PF16759 - DNA ligase 3 BRCT domain
ModBase Predicted Comparative 3D Structure on P49916
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000724 double-strand break repair via homologous recombination GO:0006260 DNA replication GO:0006266 DNA ligation GO:0006281 DNA repair GO:0006283 transcription-coupled nucleotide-excision repair GO:0006288 base-excision repair, DNA ligation GO:0006297 nucleotide-excision repair, DNA gap filling GO:0006302 double-strand break repair GO:0006310 DNA recombination GO:0006974 cellular response to DNA damage stimulus GO:0007005 mitochondrion organization GO:0007049 cell cycle GO:0043504 mitochondrial DNA repair GO:0051103 DNA ligation involved in DNA repair GO:0051301 cell division GO:0071897 DNA biosynthetic process GO:0090298 negative regulation of mitochondrial DNA replication GO:0097681 double-strand break repair via alternative nonhomologous end joining GO:0006273 lagging strand elongation GO:0033151 V(D)J recombination
BC068005 - Homo sapiens ligase III, DNA, ATP-dependent, mRNA (cDNA clone MGC:75006 IMAGE:6092747), complete cds. AK308407 - Homo sapiens cDNA, FLJ98355. AK300363 - Homo sapiens cDNA FLJ61710 complete cds, highly similar to DNA ligase 3 (EC 6.5.1.1). U40671 - Human DNA ligase III mRNA, complete cds. X84740 - H.sapiens mRNA for DNA ligase III. BC009026 - Homo sapiens ligase III, DNA, ATP-dependent, mRNA (cDNA clone IMAGE:4184595), complete cds. KJ901552 - Synthetic construct Homo sapiens clone ccsbBroadEn_10946 LIG3 gene, encodes complete protein. CU686601 - Synthetic construct Homo sapiens gateway clone IMAGE:100022853 5' read LIG3 mRNA. KJ891547 - Synthetic construct Homo sapiens clone ccsbBroadEn_00941 LIG3 gene, encodes complete protein. JD052265 - Sequence 33289 from Patent EP1572962. JD492374 - Sequence 473398 from Patent EP1572962. AK125853 - Homo sapiens cDNA FLJ43865 fis, clone TESTI4007810. JD060815 - Sequence 41839 from Patent EP1572962. JD565283 - Sequence 546307 from Patent EP1572962. JD131824 - Sequence 112848 from Patent EP1572962. JD560047 - Sequence 541071 from Patent EP1572962. JD465898 - Sequence 446922 from Patent EP1572962. JD385426 - Sequence 366450 from Patent EP1572962. JD109553 - Sequence 90577 from Patent EP1572962. JD228875 - Sequence 209899 from Patent EP1572962. JD545341 - Sequence 526365 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa03410 - Base excision repair
Reactome (by CSHL, EBI, and GO)
Protein P49916 (Reactome details) participates in the following event(s):
R-HSA-110376 Recruitment of LIG3:XRCC1 complex to the site of repair by POLB R-HSA-5649726 LIG3:XRCC1 and PNKP bind NEIL1,NEIL2:POLB:SSB(3'Pi)-gap-dsDNA R-HSA-5687673 MRN recruits LIG3:XRCC1 to MMEJ sites R-HSA-110380 Dissociation of LIG3:XRCC1 complex from the BER site R-HSA-5649724 LIG3:XRCC1, POLB, NEIL1,NEIL2 and PNKP dissociate from the BER site R-HSA-5687675 LIG3 ligates remaining SSBs in MMEJ R-HSA-73932 Resynthesis of excised residue by POLB R-HSA-73931 LIG3-mediated DNA ligation via the single-nucleotide replacement pathway R-HSA-5649734 LIG3 ligates NEIL1,NEIL2-generated single strand break R-HSA-5649705 PNKP hydrolyzes the terminal 3'Pi at the NEIL1,NEIL2-generated single strand break (SSB) R-HSA-5649723 POLB incorporates a single nucleotide in place of excised AP residue in NEIL1,NEIL2-mediated AP site resolution R-HSA-5690997 Ligation of newly synthesized repair patch to incised DNA in GG-NER R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER R-HSA-110381 Resolution of AP sites via the single-nucleotide replacement pathway R-HSA-5649702 APEX1-Independent Resolution of AP Sites via the Single Nucleotide Replacement Pathway R-HSA-5685939 HDR through MMEJ (alt-NHEJ) R-HSA-73933 Resolution of Abasic Sites (AP sites) R-HSA-5693538 Homology Directed Repair R-HSA-5696397 Gap-filling DNA repair synthesis and ligation in GG-NER R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-73884 Base Excision Repair R-HSA-5693532 DNA Double-Strand Break Repair R-HSA-5696399 Global Genome Nucleotide Excision Repair (GG-NER) R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-73894 DNA Repair R-HSA-5696398 Nucleotide Excision Repair
US Server
