DNA ligase I deficiency

Gene Information

Names

HUGO name: LIG1

Alias(es):

  • ligase I, DNA, ATP-dependent
  • DNA ligase I
  • EC 6.5.1.1
  • Polydeoxyribonucleotide synthase [ATP]

Localization

Reference sequences

Chromosomal location

Maps

Markers

Protein Information

Description

Protein function:

This protein seals, during DNA replication, DNA recombination and DNA repair, nicks in double-stranded DNA.

Catalytic activity:

ATP + (deoxyribonucleotide)(n) + (deoxyribonucleotide)(m) = AMP + diphosphate + (deoxyribonucleotide)(n+m).

Subcellular location:

Nuclear

Post-translational modification:

Phosphorylated in vivo.

Similarity:

Belongs to the ATP-dependent DNA ligase family.

Expression

Expression pattern for human

Tissue Expression (%) Clones
thymus 12.49 1:3074
small_intestine 12.33 4:12454
pooled 6.73 1:5703
muscle 6.34 15:90826
colon 4.67 10:82275
lymph_node 4.38 13:113869
testis 4.28 12:107669
placenta 4.04 15:142648
eye 3.87 13:128990
liver 3.61 11:117118
thymus 12.49 1:3074
small_intestine 12.33 4:12454
pooled 6.73 1:5703
muscle 6.34 15:90826
colon 4.67 10:82275
lymph_node 4.38 13:113869
testis 4.28 12:107669
placenta 4.04 15:142648
eye 3.87 13:128990
liver 3.61 11:117118

Animal models

Mouse