LIG3
DNA ligase 3
Also known as: DNLI3_HUMAN, LIG2, LIG3alpha
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P49916
- Gene
- LIG3
- Ensembl
- ENSG00000005156
- Chromosome
- 17
- Canonical length
- 1009 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1009 residues, UniProt reviewed canonical sequence.
>P49916|LIG3
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 TKVLLDIFTG VRLYLPPSTP DFSRLRRYFV
961 AFDGDLVQEF DMTSATHVLG SRDKNPAAQQ VSPEWIWACI RKRRLVAPCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LIG3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 20 nTPM
Expression across tissuesHPA
Tissue
- testis: 20 nTPM
- parathyroid gland: 13 nTPM
- thymus: 13 nTPM
- endometrium: 12 nTPM
- fallopian tube: 11 nTPM
- prostate: 10 nTPM
Single-cell type
- late spermatids: 121 nCPM
- epicardial cells: 96 nCPM
- early spermatids: 48 nCPM
- cardiomyocytes: 43 nCPM
- late primary spermatocytes: 41 nCPM
- fallopian tube ciliated cells: 39 nCPM
Immune cell
- NK-cell: 9.3 nTPM
- myeloid DC: 8.4 nTPM
- MAIT T-cell: 6.7 nTPM
- intermediate monocyte: 5.1 nTPM
- plasmacytoid DC: 5 nTPM
- gdT-cell: 4.6 nTPM
Brain region
- choroid plexus: 18 nTPM
- cerebral cortex: 17 nTPM
- cerebellum: 16 nTPM
- basal ganglia: 15 nTPM
- amygdala: 15 nTPM
- white matter: 14 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LIG3.
Disease | AllUniProt
Conditions LIG3 is implicated in, by any mechanism.
- Mitochondrial DNA depletion syndrome 20, MNGIE type (MTDPS20) MIM:619780
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 207 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.68
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.63
- DepMap mean gene effect
- -0.3
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- base-excision repair
- base-excision repair, gap-filling
- cell division
- DNA biosynthetic process
- double-strand break repair
- double-strand break repair via alternative nonhomologous end joining
- double-strand break repair via homologous recombination
- lagging strand elongation
- mitochondrial DNA repair
- mitochondrion organization
- negative regulation of mitochondrial DNA replication
Molecular functions
Cellular components
- mitochondrial matrix
- mitochondrion
- nucleoplasm
- nucleus
- DNA ligase III-XRCC1 complex
Protein domainsUniProt · Pfam · InterPro
- DNA ligase, ATP-dependent
- BRCT domain
- Zinc finger, PARP-type
- DNA ligase, ATP-dependent, N-terminal
- DNA ligase, ATP-dependent, C-terminal
- DNA ligase, ATP-dependent, central
- Nucleic acid-binding, OB-fold
- DNA ligase, ATP-dependent, conserved site
- BRCT domain superfamily
- DNA ligase, ATP-dependent, N-terminal domain superfamily
- Zinc finger, PARP-type superfamily
- ATP-dependent DNA ligase
- Poly(ADP-ribose) polymerase and DNA-Ligase Zn-finger region
- ATP dependent DNA ligase domain
- DNA ligase N terminus
- ATP dependent DNA ligase C terminal region
- DNA ligase 3, BRCT domain
- DNA ligase 3 BRCT domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of LIG3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LIG3 as an antibody target. Whether an autoantibody or antibody against LIG3 could matter depends on whether native LIG3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LIG3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label LIG3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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