Human_Genes_Functions
Local prototype • PDO SQLite primary • read-only query mode • sqlite3 fallback available

Prototype stage

Gene detail

Read-only gene view with summary, GO, UniProt, NCBI, and representative sequence links.

GRCh38.p14 + GENCODE Release 50local-onlyPDO SQLite primaryread-only query modesqlite3 fallback available

Gene detail

LIG1

LIG1

protein_coding 19 48,115,444 - 48,170,654 PDO SQLite primary read-only query mode

Overview

Gene ID
ENSG00000105486
Gene type
protein_coding
Chromosome
19
Coordinates
48,115,444 - 48,170,654
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

3978 CCDS12711 CCDS74409 CCDS74410 CCDS92657 CCDS92658 DNA ligase I ENST00000263274.12 LIGI NM_000234 NM_000234.3 P18858 hLig1 ligase I, DNA, ATP-dependent

Summary

GENCODE gene_type=protein_coding; HGNC symbol=LIG1; HGNC name=DNA ligase 1; alias_count=16; RefSeq=NM_000234; UniProt=P18858; MANE Select=ENST00000263274.12,NM_000234.3

Source: GENCODE + HGNC complete set

3978 • protein-coding

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]

NCBI Gene

UniProt

P18858 • reviewed

DNA ligase that seals nicks in double-stranded during DNA repair (PubMed:30395541). Also involved in DNA replication and DNA recombination

DNA ligase 1 · Nucleus · EC 6.5.1.1

P18858 • reviewed

DNA ligase that seals nicks in double-stranded during DNA repair (PubMed:30395541). Also involved in DNA replication and DNA recombination

DNA ligase 1 · Nucleus · EC 6.5.1.1

P18858 • reviewed

DNA ligase that seals nicks in double-stranded during DNA repair (PubMed:30395541). Also involved in DNA replication and DNA recombination

DNA ligase 1 · Nucleus · EC 6.5.1.1

P18858 • reviewed

DNA ligase that seals nicks in double-stranded during DNA repair (PubMed:30395541). Also involved in DNA replication and DNA recombination

DNA ligase 1 · Nucleus · EC 6.5.1.1

GO annotations

Biological process
  • GO:0071897 DNA biosynthetic process (IEA)
  • GO:0006310 DNA recombination (IEA)
  • GO:0006281 DNA repair (IEA)
  • GO:0006281 DNA repair (IEA)
  • GO:0006281 DNA repair (TAS)
  • GO:1903461 Okazaki fragment processing involved in mitotic DNA replication (IBA)
  • GO:0033151 V(D)J recombination (IDA)
  • GO:0009653 anatomical structure morphogenesis (TAS)
  • GO:0006284 base-excision repair (IDA)
  • GO:0006287 base-excision repair, gap-filling (TAS)

+ 4 more

Cellular component
  • GO:0005654 nucleoplasm (IDA)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)

+ 6 more

Molecular function
  • GO:0005524 ATP binding (IEA)
  • GO:0003677 DNA binding (IEA)
  • GO:0003677 DNA binding (TAS)
  • GO:0003910 DNA ligase (ATP) activity (IEA)
  • GO:0003910 DNA ligase (ATP) activity (IEA)
  • GO:0003910 DNA ligase (ATP) activity (IBA)
  • GO:0003909 DNA ligase activity (IEA)
  • GO:0003909 DNA ligase activity (IMP)
  • GO:0003909 DNA ligase activity (IDA)
  • GO:0003909 DNA ligase activity (IDA)

+ 6 more

Representative

Representative transcript
ENST00000263274
Representative protein
ENSP00000263274.6
Representative type
CCDS
Candidate count
15

GENCODE Release 50 annotation GTF · transcript.tag=CCDS; transcript_support_level=1

Transcripts

Transcript ID Name Type Status Protein Location
ENST00001085198 LIG1-272 nonsense_mediated_decay not available ENSP00000755004.1 19:48,115,444 - 48,170,356 -
ENST00000263274 LIG1-201 protein_coding not available ENSP00000263274.6 19:48,115,445 - 48,170,344 -
ENST00000427526 LIG1-202 protein_coding not available ENSP00000442841.1 19:48,115,445 - 48,170,654 -
ENST00000596549 LIG1-211 protein_coding not available ENSP00000471861.2 19:48,115,445 - 48,170,654 -
ENST00000699866 LIG1-221 protein_coding not available ENSP00000514663.1 19:48,115,445 - 48,170,654 -
ENST00000699868 LIG1-223 protein_coding not available ENSP00000514664.1 19:48,115,445 - 48,170,224 -
ENST00000699871 LIG1-226 protein_coding not available ENSP00000514667.1 19:48,115,445 - 48,170,654 -
ENST00000699874 LIG1-229 protein_coding not available ENSP00000514670.1 19:48,115,445 - 48,170,654 -
ENST00000699875 LIG1-230 protein_coding not available ENSP00000514671.1 19:48,115,445 - 48,170,654 -
ENST00000699877 LIG1-232 protein_coding not available ENSP00000514672.1 19:48,115,445 - 48,170,654 -
ENST00000884156 LIG1-237 protein_coding not available ENSP00000554215.1 19:48,115,445 - 48,170,654 -
ENST00000884157 LIG1-238 protein_coding not available ENSP00000554216.1 19:48,115,445 - 48,170,654 -
ENST00000884158 LIG1-239 protein_coding not available ENSP00000554217.1 19:48,115,445 - 48,170,654 -
ENST00000884159 LIG1-240 protein_coding not available ENSP00000554218.1 19:48,115,445 - 48,170,654 -
ENST00000884160 LIG1-241 protein_coding not available ENSP00000554219.1 19:48,115,445 - 48,170,654 -
ENST00000884161 LIG1-242 protein_coding not available ENSP00000554220.1 19:48,115,445 - 48,170,654 -
ENST00000884162 LIG1-243 protein_coding not available ENSP00000554221.1 19:48,115,445 - 48,170,654 -
ENST00000884164 LIG1-244 protein_coding not available ENSP00000554222.1 19:48,115,445 - 48,169,716 -
ENST00000916664 LIG1-245 protein_coding not available ENSP00000586723.1 19:48,115,445 - 48,170,654 -
ENST00000916665 LIG1-246 protein_coding not available ENSP00000586724.1 19:48,115,445 - 48,170,654 -

FASTA

FASTA output is generated by backend query; the raw FASTA path is not exposed.

ClinVar disease associations

ClinVar disease associations: 0

ClinVar gene-disease tables are missing. Build the candidate database first.