DNA ligase deficiency IV

Gene Information

Names

HUGO name: LIG4

Alias(es):

  • Sealase
  • DNA joinase
  • DNA repair enzyme
  • Ligase IV, DNA, ATP-dependent
  • Polydeoxyribonucleotide synthase
  • Polynucleotide ligase
  • DNA ligase IV
  • EC 6.5.1.1
  • Polydeoxyribonucleotide synthase [ATP]

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein function:

Efficiently joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. Involved in DNA nonhomologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. Binds to XCRCC4. 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.

Catalytic activity:

ATP + {deoxyribonucleotide}(n) + {deoxyribonucleotide}(m) = AMP + diphosphate + {deoxyribonucleotide}(n+m)

Subunit:

The LIG4-XRCC4 complex has probably a 1:2 stochiometry. The LIG4-XRCC4 heteromer associates in a DNA-dependent manner with the DNA-dependent protein kinase complex DNA-PK, formed by the KU p70/p86 dimer (g22p1/g22p2) and PRKDC.

Subcellular location:

Nuclear

Tissue specificity:

Testis, thymus, prostate and heart.

Similarity:

Belongs to the ATP-dependent DNA ligase family.

Structures (PDB)

1IK9 Crystal Structure Of A Xrcc4-DNA Ligase IV Complex

Expression

Expression pattern for human

Tissue Expression (%) Clones
juvenile granulosa tumor 18.16 1:2159
thymus 17.92 1:2187
fetal liver 8.83 1:4439
pituitary 6.80 1:5766
corresponding non cancerous liver tissue 5.94 2:13205
glioblastoma 5.54 1:7072
leukopheresis 5.05 1:7769
chondrosarcoma grade II 4.90 1:8000
cochlea 4.55 1:8607
total brain 3.70 1:10594
juvenile granulosa tumor 18.16 1:2159
thymus 17.92 1:2187
fetal liver 8.83 1:4439
pituitary 6.80 1:5766
corresponding non cancerous liver tissue 5.94 2:13205
glioblastoma 5.54 1:7072
leukopheresis 5.05 1:7769
chondrosarcoma gradeII 4.90 1:8000
cochlea 4.55 1:8607
total brain 3.70 1:10594

Animal models

Mouse