LIG1 (DNA ligase 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3978
Gene name Gene Name - the full gene name approved by the HGNC.
DNA ligase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LIG1
Synonyms (NCBI Gene) Gene synonyms aliases
IMD96, LIGI, hLig1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
126391 6598 ENSG00000105486
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Immunodeficiency 96 rs121434560 N/A
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease 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