Seroatlas · Human Serome Atlas

LIG1

DNA ligase 1

Also known as: DNLI1_HUMAN, hLig1, LIGI

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P18858
Gene
LIG1
Ensembl
ENSG00000105486
Chromosome
19
Canonical length
919 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Golgi apparatus,Vesicles

OverviewNCBI 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 immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Canonical amino-acid sequenceUniProt

919 residues, UniProt reviewed canonical sequence.

>P18858|LIG1
     1  MQRSIMSFFH PKKEGKAKKP EKEASNSSRE TEPPPKAALK EWNGVVSESD SPVKRPGRKA
    61  ARVLGSEGEE EDEALSPAKG QKPALDCSQV SPPRPATSPE NNASLSDTSP MDSSPSGIPK
   121  RRTARKQLPK RTIQEVLEEQ SEDEDREAKR KKEEEEEETP KESLTEAEVA TEKEGEDGDQ
   181  PTTPPKPLKT SKAETPTESV SEPEVATKQE LQEEEEQTKP PRRAPKTLSS FFTPRKPAVK
   241  KEVKEEEPGA PGKEGAAEGP LDPSGYNPAK NNYHPVEDAC WKPGQKVPYL AVARTFEKIE
   301  EVSARLRMVE TLSNLLRSVV ALSPPDLLPV LYLSLNHLGP PQQGLELGVG DGVLLKAVAQ
   361  ATGRQLESVR AEAAEKGDVG LVAENSRSTQ RLMLPPPPLT ASGVFSKFRD IARLTGSAST
   421  AKKIDIIKGL FVACRHSEAR FIARSLSGRL RLGLAEQSVL AALSQAVSLT PPGQEFPPAM
   481  VDAGKGKTAE ARKTWLEEQG MILKQTFCEV PDLDRIIPVL LEHGLERLPE HCKLSPGIPL
   541  KPMLAHPTRG ISEVLKRFEE AAFTCEYKYD GQRAQIHALE GGEVKIFSRN QEDNTGKYPD
   601  IISRIPKIKL PSVTSFILDT EAVAWDREKK QIQPFQVLTT RKRKEVDASE IQVQVCLYAF
   661  DLIYLNGESL VREPLSRRRQ LLRENFVETE GEFVFATSLD TKDIEQIAEF LEQSVKDSCE
   721  GLMVKTLDVD ATYEIAKRSH NWLKLKKDYL DGVGDTLDLV VIGAYLGRGK RAGRYGGFLL
   781  ASYDEDSEEL QAICKLGTGF SDEELEEHHQ SLKALVLPSP RPYVRIDGAV IPDHWLDPSA
   841  VWEVKCADLS LSPIYPAARG LVDSDKGISL RFPRFIRVRE DKQPEQATTS AQVACLYRKQ
   901  SQIQNQQGED SGSDPEDTY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LIG1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
29 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 29 nTPM
  • thymus: 20 nTPM
  • lymph node: 12 nTPM
  • skin: 9.4 nTPM
  • tonsil: 9.2 nTPM
  • testis: 8.5 nTPM

Single-cell type

  • erythrocyte progenitors: 101 nCPM
  • respiratory deuterosomal cells: 59 nCPM
  • megakaryocyte progenitors: 54 nCPM
  • extravillous trophoblasts: 50 nCPM
  • monocyte progenitors: 50 nCPM
  • undifferentiated spermatogonia: 44 nCPM

Immune cell

  • naive CD4 T-cell: 9.5 nTPM
  • T-reg: 8.7 nTPM
  • NK-cell: 8.2 nTPM
  • memory CD4 T-cell: 8 nTPM
  • memory B-cell: 7.9 nTPM
  • memory CD8 T-cell: 7.6 nTPM

Brain region

  • pons: 0.8 nTPM
  • white matter: 0.7 nTPM
  • amygdala: 0.6 nTPM
  • basal ganglia: 0.6 nTPM
  • cerebellum: 0.6 nTPM
  • cerebral cortex: 0.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LIG1.

Disease | AllUniProt

Conditions LIG1 is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 854 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Immunodeficiency 96

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.45
gnomAD pLI
0
gnomAD missense Z
0.82
DepMap mean gene effect
-0.33
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LIG1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LIG1 as an antibody target. Whether an autoantibody or antibody against LIG1 could matter depends on whether native LIG1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LIG1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LIG1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/LIG1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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