LIG1 (DNA ligase 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3978
Gene name DNA ligase 1
Gene symbol LIG1
Synonyms (NCBI Gene)
IMD96LIGIhLig1
Chromosome 19
Chromosome location 19q13.33
Summary 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
miRNA miRNA information provided by mirtarbase database.
13
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT030288 hsa-miR-26b-5p Microarray 19088304
MIRT045653 hsa-miR-149-5p CLASH 23622248
MIRT040334 hsa-miR-615-3p CLASH 23622248
MIRT2030323 hsa-miR-3064-3p CLIP-seq
MIRT2030324 hsa-miR-4639-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (32)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 8696349
GO:0003909 Function DNA ligase activity IDA 9809069, 19589734
GO:0003909 Function DNA ligase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
126391 6598 ENSG00000105486
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P18858
Protein name DNA ligase 1 (EC 6.5.1.1) (DNA ligase I) (Polydeoxyribonucleotide synthase [ATP] 1)
Protein function DNA ligase that seals nicks in double-stranded during DNA repair (PubMed:30395541). Also involved in DNA replication and DNA recombination.
PDB 1X9N , 5YY9 , 6P09 , 6P0A , 6P0B , 6P0C , 6P0D , 6P0E , 6Q1V , 7KR3 , 7KR4 , 7L34 , 7L35 , 7QNZ , 7QO1 , 7SUM , 7SX5 , 7SXE , 8B8T , 8VDN , 8VDS , 8VDT , 8VZL , 8VZM , 9BS3 , 9BS4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04675 DNA_ligase_A_N 288 → 464 DNA ligase N terminus Family
PF01068 DNA_ligase_A_M 542 → 746 ATP dependent DNA ligase domain Domain
PF04679 DNA_ligase_A_C 771 → 882 Family
Sequence 
MQRSIMSFFHPKKEGKAKKPEKEASNSSRETEPPPKAALKEWNGVVSESDSPVKRPGRKA
ARVLGSEGEEEDEALSPAKGQKPALDCSQVSPPRPATSPENNASLSDTSPMDSSPSGIPK
RRTARKQLPKRTIQEVLEEQSEDEDREAKRKKEEEEEETPKESLTEAEVATEKEGEDGDQ
PTTPPKPLKTSKAETPTESVSEPEVATKQELQEEEEQTKPPRRAPKTLSSFFTPRKPAVK
KEVKEEEPGAPGKEGAAEGPLDPSGYNPAKNNYHPVEDACWKPGQKVPYLAVARTFEKIE
EVSARLRMVETLSNLLRSVVALSPPDLLPVLYLSLNHLGPPQQGLELGVGDGVLLKAVAQ
ATGRQLESVRAEAAEKGDVGLVAENSRSTQRLMLPPPPLTASGVFSKFRDIARLTGSAST
AKKIDIIKGLFVACRHSEARFIARSLSGRLRLGLAEQSVLAALSQAVSLTPPGQEFPPAM
VDAGKGKTAEARKTWLEEQGMILKQTFCEVPDLDRIIPVLLEHGLERLPEHCKLSPGIPL
KPMLAHPTRGISEVLKRFEEAAFTCEYKYDGQRAQIHALEGGEVKIFSRNQEDNTGKYPD
IISRIPKIKLPSVTSFILDTEAVAWDREKKQIQPFQVLTTRKRKEVDASEIQVQVCLYAF
DLIYLNGESLVREPLSRRRQLLRENFVETEGEFVFATSLDTKDIEQIAEFLEQSVKDSCE
GLMVKTLDVDATYEIAKRSHNWLKLKKDYLDGVGDTLDLVVIGAYLGRGKRAGRYGGFLL
ASYDEDSEELQAICKLGTGFSDEELEEHHQSLKALVLPSPRPYVRIDGAVIPDHWLDPSA
VWEVKCADLSLSPIYPAARGLVDSDKGISLRFPRFIRVREDKQPEQATTSAQVACLYRKQ
SQIQNQQGEDSGSDPEDTY
Sequence length 919
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  DNA replication
Base excision repair
Nucleotide excision repair
Mismatch repair 		  POLB-Dependent Long Patch Base Excision Repair
Early Phase of HIV Life Cycle
Processive synthesis on the C-strand of the telomere
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
PCNA-Dependent Long Patch Base Excision Repair
Gap-filling DNA repair synthesis and ligation in GG-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
Processive synthesis on the lagging strand
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
80
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Immunodeficiency 96 Pathogenic; Likely pathogenic rs778319960, rs2513978101, rs121434560 RCV001843697
RCV003232054
RCV001843457
Show/Hide Unknown Diseases (19)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs56271590, rs4987069 RCV005909478
RCV005898292
Adrenocortical carcinoma, hereditary Likely benign rs200644453 RCV005925884
Cervical cancer Likely benign; Benign rs202203416, rs4987069, rs3731008, rs3730855 RCV005925945
RCV005898295
RCV005908650
RCV005908657
Cholangiocarcinoma Benign rs4987069 RCV005898303
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 30395541
Carcinoma Non Small Cell Lung Associate 26125914, 30181552, 39231317
Carcinoma Squamous Cell Associate 24929328
Colorectal Neoplasms Hereditary Nonpolyposis Associate 31297992
DNA Virus Infections Associate 24911150
Drug Related Side Effects and Adverse Reactions Associate 34373746
Endometrial Neoplasms Associate 21750170
Glioma Associate 19124499
Hand Foot and Mouth Disease Associate 33574876
Immune System Diseases Associate 30395541, 39510190