LIG1 (DNA ligase 1) - Rat Genome Database
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Gene: LIG1 (DNA ligase 1) Homo sapiens
Analyze
Symbol: LIG1
Name: DNA ligase 1
RGD ID: 731763
HGNC Page HGNC
Description: Exhibits DNA ligase activity. Involved in base-excision repair. Localizes to nucleoplasm. Implicated in inherited metabolic disorder and primary immunodeficiency disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dna ligase i; ligase I, DNA, ATP-dependent; MGC117397; MGC130025; polydeoxyribonucleotide synthase [ATP] 1; polydeoxyribonucleotide synthase ATP 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1948,115,445 - 48,170,603 (-)EnsemblGRCh38hg38GRCh38
GRCh381948,115,445 - 48,170,595 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371948,618,702 - 48,673,601 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,310,515 - 53,365,372 (-)NCBINCBI36hg18NCBI36
Build 341953,310,514 - 53,365,372NCBI
Celera1945,483,843 - 45,538,716 (-)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,000,496 - 45,055,385 (-)NCBIHuRef
CHM1_11948,620,870 - 48,676,046 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
acetamide  (ISO)
acrolein  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
aurintricarboxylic acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
biphenyl-4-amine  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
Brevetoxin B  (EXP)
cadmium dichloride  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carmustine  (ISO)
cefaloridine  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP,ISO)
deoxynivalenol  (ISO)
dexamethasone  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP,ISO)
Enterolactone  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
furan  (ISO)
hexadecanoic acid  (EXP)
imiquimod  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
miconazole  (ISO)
mitomycin C  (EXP)
N(6),N(6)-dimethyladenine  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
resveratrol  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
tioguanine  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (EXP)
valproic acid  (EXP)
vorinostat  (ISO)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:934827   PMID:1581963   PMID:1733856   PMID:1881902   PMID:2197279   PMID:2204063   PMID:7489727   PMID:8125298   PMID:8432525   PMID:8530104   PMID:8557490   PMID:8696349  
PMID:9081985   PMID:9111189   PMID:9539976   PMID:9649448   PMID:9809069   PMID:10523317   PMID:10559261   PMID:10827190   PMID:11948189   PMID:12009232   PMID:12171929   PMID:12200445  
PMID:12477932   PMID:12851383   PMID:14627836   PMID:15302935   PMID:15489334   PMID:15565146   PMID:15871698   PMID:15907772   PMID:15958648   PMID:16169070   PMID:16731526   PMID:16907646  
PMID:16964243   PMID:17081983   PMID:17108146   PMID:17203305   PMID:17494052   PMID:18059021   PMID:18440984   PMID:18676680   PMID:18709642   PMID:18990028   PMID:19064572   PMID:19116388  
PMID:19124499   PMID:19170196   PMID:19223467   PMID:19223468   PMID:19237606   PMID:19523882   PMID:19536092   PMID:19573080   PMID:19589734   PMID:19597347   PMID:19625176   PMID:19628465  
PMID:19661089   PMID:19692168   PMID:19773279   PMID:19913121   PMID:20006844   PMID:20150366   PMID:20226869   PMID:20453000   PMID:20496165   PMID:20574454   PMID:20575039   PMID:20628086  
PMID:20813000   PMID:21561855   PMID:21873635   PMID:21900206   PMID:22139380   PMID:22658674   PMID:22863883   PMID:22918593   PMID:22952233   PMID:23339595   PMID:23620595   PMID:24084463  
PMID:24958773   PMID:25189241   PMID:25277244   PMID:25879709   PMID:25921289   PMID:26125914   PMID:26151554   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26760575   PMID:27352326  
PMID:27573245   PMID:27634302   PMID:28319085   PMID:28514442   PMID:28751376   PMID:28803780   PMID:29395067   PMID:29615496   PMID:29955894   PMID:30021884   PMID:30154076   PMID:30181552  
PMID:30389599   PMID:30395541   PMID:30463901   PMID:30590694   PMID:30639225   PMID:30652415   PMID:31024071   PMID:31091453   PMID:31630206   PMID:31780661   PMID:32324932   PMID:32428527  
PMID:32572027  


Genomics

Comparative Map Data
LIG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1948,115,445 - 48,170,603 (-)EnsemblGRCh38hg38GRCh38
GRCh381948,115,445 - 48,170,595 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371948,618,702 - 48,673,601 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361953,310,515 - 53,365,372 (-)NCBINCBI36hg18NCBI36
Build 341953,310,514 - 53,365,372NCBI
Celera1945,483,843 - 45,538,716 (-)NCBI
Cytogenetic Map19q13.33NCBI
HuRef1945,000,496 - 45,055,385 (-)NCBIHuRef
CHM1_11948,620,870 - 48,676,046 (-)NCBICHM1_1
Lig1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39713,011,101 - 13,045,351 (+)NCBIGRCm39mm39
GRCm39 Ensembl713,011,239 - 13,045,350 (+)Ensembl
GRCm38713,277,175 - 13,311,426 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl713,277,283 - 13,311,433 (+)EnsemblGRCm38mm10GRCm38
MGSCv37713,864,175 - 13,896,776 (+)NCBIGRCm37mm9NCBIm37
MGSCv36712,177,462 - 12,211,570 (+)NCBImm8
Celera710,895,505 - 10,928,085 (+)NCBICelera
Cytogenetic Map7A1NCBI
cM Map77.82NCBI
Lig1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2174,165,688 - 74,204,400 (+)NCBI
Rnor_6.0 Ensembl175,356,220 - 75,394,758 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0175,356,212 - 75,394,757 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0176,723,841 - 76,762,378 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4173,728,892 - 73,767,429 (+)NCBIRGSC3.4rn4RGSC3.4
Celera169,539,708 - 69,578,250 (+)NCBICelera
Cytogenetic Map1q21NCBI
Lig1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955609126,278 - 160,063 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955609118,442 - 160,009 (+)NCBIChiLan1.0ChiLan1.0
LIG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11953,706,778 - 53,761,088 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1953,706,778 - 53,761,088 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01945,056,737 - 45,110,867 (-)NCBIMhudiblu_PPA_v0panPan3
LIG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1108,105,987 - 108,143,953 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11108,105,523 - 108,143,954 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Lig1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049366642,242,916 - 2,276,286 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LIG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl653,620,483 - 53,686,562 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1653,620,483 - 53,660,020 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2649,204,975 - 49,270,718 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LIG1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1641,354,701 - 41,405,417 (-)NCBI
ChlSab1.1 Ensembl641,351,389 - 41,403,421 (-)Ensembl
Lig1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248325,665,855 - 5,708,824 (+)NCBI

Position Markers
SHGC-132086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,618,722 - 48,618,838UniSTSGRCh37
Build 361953,310,534 - 53,310,650RGDNCBI36
Celera1945,483,862 - 45,483,978RGD
Cytogenetic Map19q13.2-q13.3UniSTS
HuRef1945,000,515 - 45,000,631UniSTS
SHGC-12449  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371948,618,721 - 48,618,895UniSTSGRCh37
Build 361953,310,533 - 53,310,707RGDNCBI36
Celera1945,483,861 - 45,484,035RGD
Cytogenetic Map19q13.2-q13.3UniSTS
HuRef1945,000,514 - 45,000,688UniSTS
GeneMap99-GB4 RH Map19255.29UniSTS
Whitehead-RH Map19341.9UniSTS
NCBI RH Map19541.0UniSTS
GeneMap99-G3 RH Map192459.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6433
Count of miRNA genes:1177
Interacting mature miRNAs:1509
Transcripts:ENST00000263274, ENST00000427526, ENST00000536218, ENST00000542460, ENST00000593425, ENST00000594067, ENST00000594759, ENST00000595758, ENST00000596104, ENST00000596332, ENST00000596457, ENST00000596549, ENST00000596672, ENST00000597146, ENST00000597901, ENST00000598938, ENST00000599165, ENST00000599322, ENST00000600055, ENST00000601091
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 646 396 1080 205 1303 112 2060 78 1229 183 1289 1368 106 175 1088 3
Low 1793 2579 646 419 646 353 2295 2104 2502 236 168 245 69 1 1029 1698 2 2
Below cutoff 14 1 2 14 2 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001289064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB103328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB208791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF527418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000263274   ⟹   ENSP00000263274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,115,445 - 48,170,344 (-)Ensembl
RefSeq Acc Id: ENST00000427526   ⟹   ENSP00000442841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,115,450 - 48,170,344 (-)Ensembl
RefSeq Acc Id: ENST00000536218   ⟹   ENSP00000441531
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,115,446 - 48,170,603 (-)Ensembl
RefSeq Acc Id: ENST00000542460   ⟹   ENSP00000445928
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,136,044 - 48,170,322 (-)Ensembl
RefSeq Acc Id: ENST00000593425   ⟹   ENSP00000469638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,153,901 - 48,169,689 (-)Ensembl
RefSeq Acc Id: ENST00000594067
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,115,468 - 48,154,047 (-)Ensembl
RefSeq Acc Id: ENST00000594759   ⟹   ENSP00000471380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,115,450 - 48,170,326 (-)Ensembl
RefSeq Acc Id: ENST00000595758
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,149,803 - 48,154,207 (-)Ensembl
RefSeq Acc Id: ENST00000596104
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,149,810 - 48,154,564 (-)Ensembl
RefSeq Acc Id: ENST00000596332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,121,272 - 48,123,623 (-)Ensembl
RefSeq Acc Id: ENST00000596457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,127,277 - 48,133,494 (-)Ensembl
RefSeq Acc Id: ENST00000596549   ⟹   ENSP00000471861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,150,132 - 48,170,314 (-)Ensembl
RefSeq Acc Id: ENST00000596672   ⟹   ENSP00000472331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,121,197 - 48,135,722 (-)Ensembl
RefSeq Acc Id: ENST00000597146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,115,446 - 48,116,174 (-)Ensembl
RefSeq Acc Id: ENST00000597901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,135,754 - 48,137,891 (-)Ensembl
RefSeq Acc Id: ENST00000598938   ⟹   ENSP00000472085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,162,284 - 48,170,208 (-)Ensembl
RefSeq Acc Id: ENST00000599165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,149,826 - 48,170,329 (-)Ensembl
RefSeq Acc Id: ENST00000599322
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,115,449 - 48,117,880 (-)Ensembl
RefSeq Acc Id: ENST00000600055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,161,174 - 48,170,344 (-)Ensembl
RefSeq Acc Id: ENST00000601091   ⟹   ENSP00000471836
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,115,524 - 48,170,252 (-)Ensembl
RefSeq Acc Id: ENST00000613670   ⟹   ENSP00000483027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1948,115,524 - 48,165,627 (-)Ensembl
RefSeq Acc Id: NM_000234   ⟹   NP_000225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
GRCh371948,618,702 - 48,673,852 (-)NCBI
Build 361953,310,515 - 53,365,372 (-)NCBI Archive
HuRef1945,000,495 - 45,055,685 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289063   ⟹   NP_001275992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
HuRef1945,000,495 - 45,055,685 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001289064   ⟹   NP_001275993
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
HuRef1945,000,495 - 45,055,685 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320970   ⟹   NP_001307899
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320971   ⟹   NP_001307900
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NR_110296
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
HuRef1945,000,495 - 45,055,685 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135497
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135498
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135499
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135500
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135501
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,344 (-)NCBI
CHM1_11948,620,870 - 48,676,046 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451513   ⟹   XP_024307281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,595 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958315
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,121,197 - 48,170,595 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958316
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,115,445 - 48,170,595 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000225   ⟸   NM_000234
- Peptide Label: isoform 1
- UniProtKB: P18858 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001275992   ⟸   NM_001289063
- Peptide Label: isoform 2
- UniProtKB: P18858 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001275993   ⟸   NM_001289064
- Peptide Label: isoform 3
- UniProtKB: P18858 (UniProtKB/Swiss-Prot),   B4DM52 (UniProtKB/TrEMBL),   F5GZ28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307900   ⟸   NM_001320971
- Peptide Label: isoform 5
- UniProtKB: P18858 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001307899   ⟸   NM_001320970
- Peptide Label: isoform 4
- UniProtKB: P18858 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024307281   ⟸   XM_024451513
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000471380   ⟸   ENST00000594759
RefSeq Acc Id: ENSP00000445928   ⟸   ENST00000542460
RefSeq Acc Id: ENSP00000471861   ⟸   ENST00000596549
RefSeq Acc Id: ENSP00000472331   ⟸   ENST00000596672
RefSeq Acc Id: ENSP00000472085   ⟸   ENST00000598938
RefSeq Acc Id: ENSP00000442841   ⟸   ENST00000427526
RefSeq Acc Id: ENSP00000483027   ⟸   ENST00000613670
RefSeq Acc Id: ENSP00000441531   ⟸   ENST00000536218
RefSeq Acc Id: ENSP00000471836   ⟸   ENST00000601091
RefSeq Acc Id: ENSP00000263274   ⟸   ENST00000263274
RefSeq Acc Id: ENSP00000469638   ⟸   ENST00000593425
Protein Domains
DNA_LIGASE_A3   DNA_ligase_A_N

Promoters
RGD ID:13204919
Promoter ID:EPDNEW_H26042
Type:initiation region
Name:LIG1_1
Description:DNA ligase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381948,170,344 - 48,170,404EPDNEW
RGD ID:6795227
Promoter ID:HG_KWN:30424
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000263274,   UC002PIB.1,   UC002PIC.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361953,364,576 - 53,366,077 (+)MPROMDB
RGD ID:6852482
Promoter ID:EP74052
Type:initiation region
Name:HS_LIG1
Description:Ligase I, DNA, ATP-dependent.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361953,365,386 - 53,365,446EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000234.3(LIG1):c.1696G>A (p.Glu566Lys) single nucleotide variant DNA ligase I deficiency [RCV000018263] Chr19:48133011 [GRCh38]
Chr19:48636268 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp) single nucleotide variant DNA ligase I deficiency [RCV000018264] Chr19:48121244 [GRCh38]
Chr19:48624501 [GRCh37]
Chr19:19q13.33
pathogenic|uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43
pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
NM_000234.3(LIG1):c.2406T>C (p.Asp802=) single nucleotide variant not specified [RCV000454794] Chr19:48119170 [GRCh38]
Chr19:48622427 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.510C>A (p.Ala170=) single nucleotide variant not specified [RCV000454851] Chr19:48151296 [GRCh38]
Chr19:48654553 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.17+12C>T single nucleotide variant not specified [RCV000455294] Chr19:48165538 [GRCh38]
Chr19:48668795 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.1821+14A>T single nucleotide variant not specified [RCV000455459] Chr19:48131062 [GRCh38]
Chr19:48634319 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.2442G>C (p.Ala814=) single nucleotide variant not specified [RCV000455698] Chr19:48117779 [GRCh38]
Chr19:48621036 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.1131C>T (p.Gly377=) single nucleotide variant not provided [RCV000951154]|not specified [RCV000455929] Chr19:48137645 [GRCh38]
Chr19:48640902 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.-7C>T single nucleotide variant not specified [RCV000456067] Chr19:48165573 [GRCh38]
Chr19:48668830 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_000234.3(LIG1):c.2030G>T (p.Arg677Leu) single nucleotide variant not provided [RCV000970366] Chr19:48123293 [GRCh38]
Chr19:48626550 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.71C>T (p.Ala24Val) single nucleotide variant not provided [RCV000970367] Chr19:48162298 [GRCh38]
Chr19:48665555 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.1206C>T (p.Ser402=) single nucleotide variant not provided [RCV000943255] Chr19:48137570 [GRCh38]
Chr19:48640827 [GRCh37]
Chr19:19q13.33
likely benign
NM_000234.3(LIG1):c.2286C>T (p.Ile762=) single nucleotide variant not provided [RCV000966616] Chr19:48121269 [GRCh38]
Chr19:48624526 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.1271T>C (p.Ile424Thr) single nucleotide variant not provided [RCV000903818] Chr19:48137068 [GRCh38]
Chr19:48640325 [GRCh37]
Chr19:19q13.33
likely benign
GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3 copy number gain not provided [RCV000848800] Chr19:48119589..49595956 [GRCh37]
Chr19:19q13.33
uncertain significance
NM_000234.3(LIG1):c.2068G>A (p.Glu690Lys) single nucleotide variant not provided [RCV000791137] Chr19:48123255 [GRCh38]
Chr19:48626512 [GRCh37]
Chr19:19q13.33
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_000234.3(LIG1):c.2257G>A (p.Val753Met) single nucleotide variant not provided [RCV000952782] Chr19:48121298 [GRCh38]
Chr19:48624555 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.140C>T (p.Ser47Phe) single nucleotide variant not provided [RCV000909526] Chr19:48161475 [GRCh38]
Chr19:48664732 [GRCh37]
Chr19:19q13.33
benign
NM_000234.3(LIG1):c.507G>A (p.Val169=) single nucleotide variant not provided [RCV000962752] Chr19:48151299 [GRCh38]
Chr19:48654556 [GRCh37]
Chr19:19q13.33
benign
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) copy number gain not provided [RCV001249294] Chr19:47939842..54626871 [GRCh37]
Chr19:19q13.32-13.42
not provided
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6598 AgrOrtholog
COSMIC LIG1 COSMIC
Ensembl Genes ENSG00000105486 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000263274 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000441531 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000442841 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000445928 UniProtKB/TrEMBL
  ENSP00000469638 UniProtKB/TrEMBL
  ENSP00000471380 UniProtKB/TrEMBL
  ENSP00000471836 UniProtKB/Swiss-Prot
  ENSP00000471861 UniProtKB/TrEMBL
  ENSP00000472085 UniProtKB/TrEMBL
  ENSP00000472331 UniProtKB/TrEMBL
  ENSP00000483027 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000263274 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000427526 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000536218 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000542460 UniProtKB/TrEMBL
  ENST00000593425 UniProtKB/TrEMBL
  ENST00000594067 ENTREZGENE
  ENST00000594759 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000596549 UniProtKB/TrEMBL
  ENST00000596672 UniProtKB/TrEMBL
  ENST00000598938 UniProtKB/TrEMBL
  ENST00000601091 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000613670 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.3260.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105486 GTEx
HGNC ID HGNC:6598 ENTREZGENE
Human Proteome Map LIG1 Human Proteome Map
InterPro DNA_ligase_ATP-dep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_ATP-dep_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_ATP-dep_cent UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_ATP-dep_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_ATP-dep_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3978 UniProtKB/Swiss-Prot
NCBI Gene 3978 ENTREZGENE
OMIM 126391 OMIM
Pfam DNA_ligase_A_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_A_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_ligase_A_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB LIG1 RGD, PharmGKB
PROSITE DNA_LIGASE_A1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_LIGASE_A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA_LIGASE_A3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF117018 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs dnl1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DM52 ENTREZGENE, UniProtKB/TrEMBL
  B4E135_HUMAN UniProtKB/TrEMBL
  DNLI1_HUMAN UniProtKB/Swiss-Prot
  F5GZ28 ENTREZGENE, UniProtKB/TrEMBL
  M0QY71_HUMAN UniProtKB/TrEMBL
  M0R0Q7_HUMAN UniProtKB/TrEMBL
  M0R1G7_HUMAN UniProtKB/TrEMBL
  M0R1S4_HUMAN UniProtKB/TrEMBL
  M0R254_HUMAN UniProtKB/TrEMBL
  P18858 ENTREZGENE
  Q76GR4_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2RAI8 UniProtKB/Swiss-Prot
  B4DTU4 UniProtKB/Swiss-Prot
  Q2TB12 UniProtKB/Swiss-Prot
  Q32P23 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 LIG1  DNA ligase 1    ligase I, DNA, ATP-dependent  Symbol and/or name change 5135510 APPROVED