PARP tyyppinen sinkkisormiproteiini LIG3(17q12) , DNA ligaasi 3 alfa

PARP-tyyppisiä sinkkisormirakenteita (C-x-C-x-H-x-C)  esiintyy ainakin kahdella geenituottella LIG3 ja PARP1, joista toinen on transkriptiotekijä.
https://www.ncbi.nlm.nih.gov/gene/3980

LIG3 ( 17q129

Official Symbol LIG3

Official Full Name; DNA ligase 3

Also known as LIG2; LIG3alpha

Summary: 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]

Expression: Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 4.6) and 25 other tissues See more

Preferred Names

DNA ligase 3

Names

ligase II, DNA, ATP-dependent

ligase III, DNA, ATP-dependent

polydeoxyribonucleotide synthase [ATP] 3

 

Conserved Domains (5) summary

cd07967
Location:686 → 824

OBF_DNA_ligase_III; The Oligonucleotide/oligosaccharide binding (OB)-fold domain of ATP-dependent DNA ligase III is a DNA-binding module that is part of the catalytic core unit

cd07902
Location:468 → 680

Adenylation_DNA_ligase_III; Adenylation domain of DNA Ligase III

TIGR00574
Location:318 → 830

dnl1; DNA ligase I, ATP-dependent (dnl1)

pfam00645
Location:97 → 179

zf-PARP; Poly(ADP-ribose) polymerase and DNA-Ligase Zn-finger regionPoly(ADP-ribose) polymerase is an important regulatory component of the cellular response to DNA damage. The amino-terminal region of Poly(ADP-ribose) polymerase consists of two PARP-type zinc fingers. This region acts as a DNA nick sensor.

pfam04675
Location:264 → 429

DNA_ligase_A_N; DNA ligase N terminus

 

https://www.ncbi.nlm.nih.gov/protein/NP_002302.2 

Region          97..179
                     /region_name="zf-PARP"
                     /note="Poly(ADP-ribose) polymerase and DNA-Ligase
                     Zn-finger region; pfam00645"
                     /db_xref="CDD:279039"

ORIGIN      
        1 mslafkiffp qtlralsrke lclfrkhhwr dvrqfsqwse tdllhghplf lrrkpvlsfq
       61 gshlrsraty lvflpglhvg lCsgpCemae qrfCvdyakr gtagCkkCke kivkgvCrig
      121 kvvpnpfses ggdmkewyhi kCmfeklera rattkkiedl telegweele dnekeqitqh
      181 iadlsskaag tpkkkavvqa kltttgqvts pvkgasfvts tnprkfsgfs akpnnsgeap
      241 ssptpkrsls sskcdprhkd cllrefrklc amvadnpsyn tktqiiqdfl rkgsagdgfh
      301 gdvyltvkll lpgviktvyn lndkqivklf srifncnpdd mardleqgdv setirvffeq
      361 sksfppaaks lltiqevdef llrlskltke deqqqalqdi asrctandlk ciirlikhdl
      421 kmnsgakhvl daldpnayea fkasrnlqdv vervlhnaqe vekepgqrra lsvqaslmtp
      481 vqpmlaeack sveyamkkcp ngmfseikyd gervqvhkng dhfsyfsrsl kpvlphkvah
      541 fkdyipqafp gghsmildse vllidnktgk plpfgtlgvh kkaafqdanv clfvfdciyf
      601 ndvslmdrpl cerrkflhdn mveipnrimf semkrvtkal dladmitrvi qegleglvlk
      661 dvkgtyepgk rhwlkvkkdy lnegamadta dlvvlgafyg qgskggmmsi flmgcydpgs
      721 qkwctvtkca gghddatlar lqneldmvki skdpskipsw lkvnkiyypd fivpdpkkaa
      781 vweitgaefs kseahtadgi sirfprctri rddkdwksat nlpqlkelyq lskekadftv
      841 vagdegsstt ggsseenkgp sgsavsrkap skpsastkka egklsnsnsk dgnmqtakps
      901 amkvgeklat ksspvkvgek rkaadetlcq tkrrpaseqr grtvpagrr

Related articles in PubMed

1. LIG3 gene polymorphisms and risk of gastric cancer in a Southern Chinese population. Hua RX, et al. Gene, 2019 Jul 15. PMID 31034940
2. Polymorphism rs1052536 in Base Excision Repair Gene Is a Risk Factor in a High-Risk Area of Neural Tube Defects in China. Li G, et al. Med Sci Monit, 2018 Jul 19. PMID 30022792, Free PMC Article
3. Human DNA ligase III bridges two DNA ends to promote specific intermolecular DNA end joining. Kukshal V, et al. Nucleic Acids Res, 2015 Aug 18. PMID 26130724, Free PMC Article
4. Polymorphism of the LIG3 gene in keratoconus and Fuchs endothelial corneal dystrophy. Synowiec E, et al. Cell Mol Biol (Noisy-le-grand), 2015 Mar 28. PMID 25817347
5. Escape from telomere-driven crisis is DNA ligase III dependent. Jones RE, et al. Cell Rep, 2014 Aug 21. PMID 25127141

See all (129) citations in PubMed

GeneRIFs: Gene References Into Functions

1. MM express elevated MALAT1 and involve in alternative non-homozygous end joining (A-NHEJ) pathway by binding to PARP1 and LIG3, two key components of the A-NHEJ protein complex.
2. Data report that polymorphisms in LIG3 gene are not associated with the susceptibility to gastric cancer. The study helps to provide novel insight into the role of LIG3 polymorphisms in gastric cancer risk.
3. High lig3 expression is associated with multiple myeloma.
4. The homozygotes of rs1052536 TT were associated with an increased risk for NTDs than CC, and variants of rs1052536 T were associated with an increased risk of Neural Tube Defects. The stratified analysis showed that TT genotype of rs1052536 increased the risk of anencephaly and the T allele significantly increased the risk of cranial Neural Tube Defects.
5. single-stranded break repair by human DNA ligase III isoforms reveal biochemical differences from DNA ligase I
6. The g.29661G>A and g.29059C>T polymorphisms of LIG3 may play a role in the keratoconus and Fuchs endothelial corneal dystrophy pathogenesis and can be considered as markers in these diseases.
7. A computational approach to determine susceptibility to cancer by evaluating the deleterious effect of nsSNP in XRCC1 gene on binding interaction of XRCC1 protein with ligase III.
8. In the context of tyrosine kinase-activated leukemias, c-MYC contributes to aberrant DNA repair through downstream targets LIG3 and PARP1 up-regulation.