LIG3 - DNA ligase 3 Gene

Also Known as LIG2; MTDPS20; LIG3alpha

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3980

About LIG3

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:34,980,512-35,010,872 (from NCBI)

This gene has 16 transcripts (splice variants), 207 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 7.0), thyroid (RPKM 4.6) and 25 other tissues.

Summary

This gene is a member of the DNA Ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

LIG3 Products (2)

mRNA	Protein	Name
NM_002311.5	NP_002302.2	DNA ligase 3 isoform beta precursor
NM_013975.4	NP_039269.2	DNA ligase 3 isoform alpha precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA ligase (ATP) activity	IDA IDA: Inferred from direct assay	7565692	GOA
enables DNA ligase (ATP) activity	IMP IMP: Inferred from mutant phenotype	10207110	GOA
enables DNA ligase activity	IDA IDA: Inferred from direct assay	9809069	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	8532526	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA ligation	IDA IDA: Inferred from direct assay	7565692	GOA
NOT involved in V(D)J recombination	IDA IDA: Inferred from direct assay	9809069	GOA
involved in base-excision repair, DNA ligation	IDA IDA: Inferred from direct assay	19589734	GOA
involved in base-excision repair, DNA ligation	IMP IMP: Inferred from mutant phenotype	24674627	GOA
involved in double-strand break repair	IDA IDA: Inferred from direct assay	19589734	GOA
involved in double-strand break repair via alternative nonhomologous end joining	IGI IGI: Inferred from genetic interaction	24837021	GOA
involved in mitochondrial DNA repair	IMP IMP: Inferred from mutant phenotype	21390132	GOA
involved in mitochondrion organization	IDA IDA: Inferred from direct assay	24837021	GOA
involved in negative regulation of mitochondrial DNA replication	IMP IMP: Inferred from mutant phenotype	21878356	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of DNA ligase III-XRCC1 complex	IDA IDA: Inferred from direct assay	8532526	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	10207110	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10207110	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LIG3 Protein Structure

zf-PARP

DNA_ligase_A_N

DNA_ligase_A_M

DNA_ligase_A_C

0
200
400
600
800
1009 a.a.

Protein Preferred Names	Protein Names
DNA ligase 3	ligase II, DNA, ATP-dependent

LIG3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	LIG3	P49916	MAX	Homo sapiens	P61244	Pull Down	25609649

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Mitochondrial Dna Depletion Syndrome 20	MTDPS20 Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome, Lig3-Related Mitochondrial Dna Depletion Syndrome 20, Mngie Type
Mitochondrial Neurogastrointestinal Encephalomyopathy	Mngie Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
Bloom Syndrome	BLM Bs Bls Bloom-Torre-Machacek Syndrome Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 1 Mgrisce1 Congenital Telangiectatic Erythema Congenital Telangiectatic Erythema Syndrome Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo And Hyperpigmented Skin, Predisposition To Malignancy And Chromosomal Instability Bloom'S Syndrome Bsyn
Spinocerebellar Ataxia Type 1 With Axonal Neuropathy	Scan1 Spinocerebellar Ataxia With Axonal Neuropathy Type 1 Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Aoa1 Ataxia-Telangiectasia-Like Disorder EAOH Eoca-Ha Ataxia With Oculomotor Apraxia Type 1 Ataxia-Oculomotor Apraxia 1 Ataxia-Oculomotor Apraxia Syndrome AOA Ataxia-Telangiectasia-Like Syndrome Ataxia-Oculomotor Apraxia Type 1 Ataxia With Oculomotor Apraxia Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia Early-Onset Cerebellar Ataxia With Hypoalbuminemia Adult Onset Ataxia With Oculomotor Apraxia Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia Scan2 Scar1 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 Atld Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia Cerebellar Ataxia Early-Onset With Hypoalbuminemia Ataxia-Oculomotor Apraxia Spinocerebellar Ataxia, Autosomal Recessive 1
Xeroderma Pigmentosum, Complementation Group A	Xeroderma Pigmentosum Group A Xp1 Xeroderma Pigmentosum, Group A XPA Xeroderma Pigmentosum I Xeroderma Pigmentosum Complementation Group A Xp Group A Xp, Group A Xeroderma Pigmentosum 1 Xeroderma Pigmentosum, Type 1 XP-A
Xeroderma Pigmentosum, Variant Type	Xeroderma Pigmentosum XPV Xeroderma Pigmentosum Variant Type Xeroderma Pigmentosum With Normal Dna Repair Rates Photosensitivity With Defective Dna Synthesis Xp De Sanctis-Cacchione Syndrome Desanctis-Cacchione Syndrome Xeroderma Pigmentosa Xerodermic Idiocy Xeroderma Pigmentosum Variant Xp - [Xeroderma Pigmentosum] Atrophoderma Pigmentosum
Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Group G Xeroderma Pigmentosum Vii Xp7 XPG Xeroderma Pigmentosum Group G Xp Group G Xp, Group G Xpgc Xeroderma Pigmentosum, Group G/Cockayne Syndrome Xeroderma Pigmentosum, Type 7 Xeroderma Pigmentosum Complementation Group G XP-G Xp-G/Cs Xeroderma Pigmentosum Group G/Cockayne Syndrome
Cockayne Syndrome B	Cockayne Syndrome Type 2 Cockayne Syndrome, Type B Cockayne Syndrome Type Ii CSB Cockayne Syndrome 2 Cockayne Syndrome Type B Ckn2 Cockayne Syndrome, Type Ii
Trichothiodystrophy	Ttd Amish Brittle Hair Syndrome Bids Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome Ibids Pibids Trichothiodystrophy Syndromes
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07643	LIG3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07789	LRIG3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22220	Lig3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28742	Lig3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P991208	Flt-3L-Ig (hum/hum)		98%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LIG3	VGNC	VGNC:97480
Bos taurus	LIG3	VGNC	VGNC:30883
Rattus norvegicus	LIG3	RGD	RGD:1309875
Mus musculus	LIG3	MGD	MGI:109152
Macaca mulatta	LIG3	VGNC	VGNC:74266
Canis familiaris	LIG3	VGNC	VGNC:42674
Others	LIG3	NCBI