Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

LIG1

contributors: mct - updated : 10-04-2018

HGNC name	ligase I, DNA, ATP-dependent
HGNC id	6598

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LIG1 growth retardation, immunodeficiency
Location	19q13.33      Physical location : 48.618.702 - 48.673.560
EC.number	6.5.1.1

DNA

TYPE	functioning gene
STRUCTURE	55.16 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - XRCC1 - ERCC2 - ERCC1 - DM1 - D19S321 - SULT2A1 - LIG1 LIG1 - D19S301 - GYS1 /LHB - KCNA7 - qter
Authors	Barnes (92),Gordon (95)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000234 28 - 3083 NP_000225 - 919 - 2017 28803780 NM_001289063 27 - 3317 NP_001275992 - 888 - 2017 28803780 NM_001320971 27 - 3320 NP_001307900 - 889 - 2017 28803780 NM_001289064 26 - 3206 NP_001275993 - 851 - 2017 28803780 NM_001320970 28 - 3407 NP_001307899 - 918 - 2017 28803780

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small intestine     highly Lymphoid/Immune thymus       highly Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal PIP box
	three cyclin-dependent kinase sites, serine 51, serine 76, and serine 91, and a casein kinase II site, serine 66, these phosphorylation sites reside within an unstructured, proline-rich region between the PIP box and the catalytic domain
	C-terminal catalytic domain

HOMOLOGY

interspecies

homolog to yeast cdc9

Homologene

FAMILY

CATEGORY

enzyme , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	DNA ligase I,ATP-dependent
	required for fetal liver erythropoiesis
	carrying out the final step of Okazaki fragments processing and of many DNA repair pathways
	participates in DNA replication and excision repair via an interaction with proliferating cell nuclear antigen (PCNA), a DNA sliding clamp
	participates in homology dependent pathways that deal with replication-associated lesions generated when replication fork encounters DNA damage
	catalyzes the ligation of single-strand breaks to complete DNA replication and repair
	catalyzes Okazaki-fragment ligation at the replication fork and nucleotide excision repair (NER)
	its interaction with RFC1 plays a key role in coordinating Okazaki fragment processing and ligation during DNA replication and contributes to the DNA repair functions of LIG1
	LIG1 and LIG3 cooperate in alternative non-homologous end-joining
	LIG1 is not absolutely required for cellular DNA replication and repair and either LIG3 or LIG4 can substitute for the role of LIG1 in joining Okazaki fragments
	LIG3 isoforms were seven times more efficient than LIG1 at ligating nicked DNA under optimal conditions

CELLULAR PROCESS	nucleotide, replication
	nucleotide, repair
	nucleotide, transcription, regulation
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development

text	embryogenesis, morphogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding, nucleotide,
	ATP dependent
	requires multiple Mg(2+) ions for catalysis and that an essential Mg(2+) ion binds more tightly to ATP than to the enzyme

protein	interacting with FEN1 to inhibit DNA synthesis by DNA polymerase delta/PCNA complex
	LIG1 was critical for DNA repair, but acted in a cooperative manner with LIG3
	is the main DNA ligase for XRCC1-mediated DNA repair 0)
	interaction between LIG1 and RFC1 is critical for DNA replication and repair, and replacement of serine 51 with aspartic acid is sufficient to disrupt the association of LIG1 with RFC1
	functional flexibility and interchangeability between LIG1 and LIG3
	direct recruitment of UHRF1 by the replication machinery via DNA ligase 1 (LIG1)

cell & other

REGULATION

Other	stimulated by AIEX1,coordinately with FEN1
	appropriate phosphorylation of LIG1 is critical for its participation in DNA replication and repair
	phosphorylation of LIG1 regulates its participation in DNA replication and repair

ASSOCIATED DISORDERS

corresponding disease(s)

LIG1

Susceptibility

to non-small cell lung cancer

Variant & Polymorphism other	LIG1 CC genotype was associated with susceptibility to NSCLC, and the AA genotype demonstrated increased radiosensitivity compared to the AC and CC genotypes

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS