• Gene id: 3978

Gene Summary

• Gene Symbol: LIG1   Gene   UCSC   Ensembl
• Gene name: DNA ligase 1
• Alternate names: DNA ligase 1, ligase I, DNA, ATP-dependent, polydeoxyribonucleotide synthase [ATP] 1,
• Gene location: 19q13.33 (48170602: 48115444)     Exons: 29     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunod

Protein Summary

• Protein general information: P18858  
  • Name: DNA ligase 1 (EC 6.5.1.1) (DNA ligase I) (Polydeoxyribonucleotide synthase [ATP] 1)
  • Length: 919  
  • Mass: 101736
• Sequence:

  MQRSIMSFFHPKKEGKAKKPEKEASNSSRETEPPPKAALKEWNGVVSESDSPVKRPGRKAARVLGSEGEEEDEAL
  SPAKGQKPALDCSQVSPPRPATSPENNASLSDTSPMDSSPSGIPKRRTARKQLPKRTIQEVLEEQSEDEDREAKR
  KKEEEEEETPKESLTEAEVATEKEGEDGDQPTTPPKPLKTSKAETPTESVSEPEVATKQELQEEEEQTKPPRRAP
  KTLSSFFTPRKPAVKKEVKEEEPGAPGKEGAAEGPLDPSGYNPAKNNYHPVEDACWKPGQKVPYLAVARTFEKIE
  EVSARLRMVETLSNLLRSVVALSPPDLLPVLYLSLNHLGPPQQGLELGVGDGVLLKAVAQATGRQLESVRAEAAE
  KGDVGLVAENSRSTQRLMLPPPPLTASGVFSKFRDIARLTGSASTAKKIDIIKGLFVACRHSEARFIARSLSGRL
  RLGLAEQSVLAALSQAVSLTPPGQEFPPAMVDAGKGKTAEARKTWLEEQGMILKQTFCEVPDLDRIIPVLLEHGL
  ERLPEHCKLSPGIPLKPMLAHPTRGISEVLKRFEEAAFTCEYKYDGQRAQIHALEGGEVKIFSRNQEDNTGKYPD
  IISRIPKIKLPSVTSFILDTEAVAWDREKKQIQPFQVLTTRKRKEVDASEIQVQVCLYAFDLIYLNGESLVREPL
  SRRRQLLRENFVETEGEFVFATSLDTKDIEQIAEFLEQSVKDSCEGLMVKTLDVDATYEIAKRSHNWLKLKKDYL
  DGVGDTLDLVVIGAYLGRGKRAGRYGGFLLASYDEDSEELQAICKLGTGFSDEELEEHHQSLKALVLPSPRPYVR
  IDGAVIPDHWLDPSAVWEVKCADLSLSPIYPAARGLVDSDKGISLRFPRFIRVREDKQPEQATTSAQVACLYRKQ
  SQIQNQQGEDSGSDPEDTY

• Structural information:
  • Interpro: IPR000977  IPR012309  IPR012310  IPR016059  IPR012308   IPR036599  IPR012340  
  • Prosite: PS00697 PS00333 PS50160
  • PDB: 1X9N 5YY9 6P09 6P0A 6P0B 6P0C 6P0D 6P0E 6Q1V
  • PDBsum: 1X9N 5YY9 6P09 6P0A 6P0B 6P0C 6P0D 6P0E 6Q1V
  • DIP: 24215
  • STRING: ENSP00000263274
• Other Databases: GeneCards:  LIG1  Malacards:  LIG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003909	DNA ligase activity	IMP	molecular function
GO:1903461	Okazaki fragment processing involved in mitotic DNA replication	IBA	biological process
GO:0006281	DNA repair	IBA	NOT|biological process
GO:0051103	DNA ligation involved in DNA repair	IBA	biological process
GO:0006273	lagging strand elongation	IBA	biological process
GO:0006266	DNA ligation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003910	DNA ligase (ATP) activity	IBA	molecular function
GO:0003909	DNA ligase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003910	DNA ligase (ATP) activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0003910	DNA ligase (ATP) activity	IEA	molecular function
GO:0006266	DNA ligation	TAS	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006297	nucleotide-excision repair, DNA gap filling	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0006284	base-excision repair	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0033151	V(D)J recombination	IDA	NOT|biological process
GO:0003909	DNA ligase activity	IDA	molecular function
GO:0003909	DNA ligase activity	IMP	molecular function
GO:1903461	Okazaki fragment processing involved in mitotic DNA replication	IBA	biological process
GO:0006281	DNA repair	IBA	NOT|biological process
GO:0051103	DNA ligation involved in DNA repair	IBA	biological process
GO:0006273	lagging strand elongation	IBA	biological process
GO:0006266	DNA ligation	IBA	biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0003910	DNA ligase (ATP) activity	IBA	molecular function
GO:0003909	DNA ligase activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003910	DNA ligase (ATP) activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006310	DNA recombination	IEA	biological process
GO:0071897	DNA biosynthetic process	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0006260	DNA replication	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0006281	DNA repair	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0003910	DNA ligase (ATP) activity	IEA	molecular function
GO:0006266	DNA ligation	TAS	biological process
GO:0006283	transcription-coupled nucleotide-excision repair	TAS	biological process
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0003909	DNA ligase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006297	nucleotide-excision repair, DNA gap filling	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0006298	mismatch repair	TAS	biological process
GO:0006284	base-excision repair	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0033151	V(D)J recombination	IDA	NOT|biological process
GO:0003909	DNA ligase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03420	Nucleotide excision repair
hsa03030	DNA replication
hsa03410	Base excision repair
hsa03430	Mismatch repair

Diseases

Associated diseases	References
Immunodeficiency associated with DNA repair defects	KEGG:H00094
Immunodeficiency associated with DNA repair defects	KEGG:H00094
Primary immunodeficiency disease	PMID:1351188
inherited metabolic disorder	PMID:1351188
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray