Human_Genes_Functions
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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

POLB

POLB

protein_coding 8 42,338,454 - 42,373,513 PDO SQLite primary read-only query mode

Overview

Gene ID
ENSG00000070501
Gene type
protein_coding
Chromosome
8
Coordinates
42,338,454 - 42,373,513
Strand
+
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

5423 CCDS6129 ENST00000265421.9 NM_002690 NM_002690.3 P06746 polymerase (DNA directed), beta polymerase (DNA) beta

Summary

GENCODE gene_type=protein_coding; HGNC symbol=POLB; HGNC name=DNA polymerase beta; alias_count=9; RefSeq=NM_002690; UniProt=P06746; MANE Select=ENST00000265421.9,NM_002690.3

Source: GENCODE + HGNC complete set

5423 • protein-coding

The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]

NCBI Gene

UniProt

P06746 • reviewed

Repair polymerase that plays a key role in base-excision repair (PubMed:10556592, PubMed:9207062, PubMed:9572863). During this process, the damaged base is excised by specific DNA glycosylases, the DNA backbone is nicked at the abasic site by an apurinic/apyrimidic (AP) endonuclease, and POLB removes 5'-deoxyribose-phosphate from the preincised AP site acting as a 5'-deoxyribose-phosphate lyase (5'-dRP lyase); through its DNA polymerase activity, it adds one nucleotide to the 3' end of the arising single-nucleotide gap (PubMed:10556592, PubMed:17526740, PubMed:8841119, PubMed:9556598, PubMed:9572863, PubMed:9614142). Conducts 'gap-filling' DNA synthesis in a stepwise distributive fashion rather than in a processive fashion as for other DNA polymerases. It is also able to cleave sugar-phosphate bonds 3' to an intact AP site, acting as an AP lyase (PubMed:9614142)

DNA polymerase beta · Nucleus; Cytoplasm · EC 2.7.7.7; 4.2.99.18

GO annotations

Biological process
  • GO:0071897 DNA biosynthetic process (IEA)
  • GO:0071897 DNA biosynthetic process (IEA)
  • GO:0006974 DNA damage response (IMP)
  • GO:0006281 DNA repair (IEA)
  • GO:0006281 DNA repair (IEA)
  • GO:0006281 DNA repair (TAS)
  • GO:0006261 DNA-templated DNA replication (TAS)
  • GO:0006284 base-excision repair (IDA)
  • GO:0006284 base-excision repair (IMP)
  • GO:0006284 base-excision repair (TAS)

+ 11 more

Cellular component
  • GO:0070421 DNA ligase III-XRCC1 complex (NAS)
  • GO:0005737 cytoplasm (IEA)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005737 cytoplasm (IDA)
  • GO:0005829 cytosol (IDA)
  • GO:0005874 microtubule (IDA)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)

+ 30 more

Molecular function
  • GO:0051575 5'-deoxyribose-5-phosphate lyase activity (IEA)
  • GO:0051575 5'-deoxyribose-5-phosphate lyase activity (EXP)
  • GO:0051575 5'-deoxyribose-5-phosphate lyase activity (IDA)
  • GO:0003677 DNA binding (IEA)
  • GO:0003677 DNA binding (IEA)
  • GO:0034061 DNA polymerase activity (IEA)
  • GO:0034061 DNA polymerase activity (IEA)
  • GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity (TAS)
  • GO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity (TAS)
  • GO:0003887 DNA-directed DNA polymerase activity (IEA)

+ 37 more

Representative

Representative transcript
ENST00000265421
Representative protein
ENSP00000265421.4
Representative type
CCDS
Candidate count
3

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

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000532157 POLB-217 protein_coding not available ENSP00000432084.1 8:42,338,454 - 42,357,203 +
ENST00000520008 POLB-208 protein_coding not available ENSP00000430610.1 8:42,338,459 - 42,361,361 +
ENST00000929417 POLB-218 protein_coding not available ENSP00000599476.1 8:42,338,474 - 42,371,808 +
ENST00000987804 POLB-219 protein_coding not available ENSP00000657621.1 8:42,338,474 - 42,373,513 +
ENST00000987805 POLB-220 nonsense_mediated_decay not available ENSP00000657622.1 8:42,338,474 - 42,371,807 +
ENST00000987806 POLB-221 protein_coding not available ENSP00000657623.1 8:42,338,474 - 42,373,513 +
ENST00001063950 POLB-223 protein_coding not available ENSP00000733756.1 8:42,338,474 - 42,373,513 +
ENST00001063951 POLB-224 protein_coding not available ENSP00000733757.1 8:42,338,474 - 42,373,513 +
ENST00001063952 POLB-225 protein_coding not available ENSP00000733758.1 8:42,338,474 - 42,373,513 +
ENST00001063953 POLB-226 protein_coding not available ENSP00000733759.1 8:42,338,474 - 42,373,513 +
ENST00001091329 POLB-227 protein_coding not available ENSP00000761135.1 8:42,338,474 - 42,373,513 +
ENST00001091330 POLB-228 protein_coding not available ENSP00000761136.1 8:42,338,474 - 42,373,513 +
ENST00001091331 POLB-229 protein_coding not available ENSP00000761137.1 8:42,338,474 - 42,373,513 +
ENST00001091332 POLB-230 protein_coding not available ENSP00000761138.1 8:42,338,474 - 42,371,813 +
ENST00001091333 POLB-231 protein_coding not available ENSP00000761139.1 8:42,338,474 - 42,373,513 +
ENST00001091334 POLB-232 protein_coding not available ENSP00000761140.1 8:42,338,474 - 42,373,513 +
ENST00001134121 POLB-233 protein_coding not available ENSP00000803758.1 8:42,338,474 - 42,373,513 +
ENST00000518925 POLB-204 protein_coding not available ENSP00000430784.1 8:42,338,482 - 42,369,297 +
ENST00001014834 POLB-222 nonsense_mediated_decay not available ENSP00000684651.1 8:42,338,490 - 42,371,812 +
ENST00000265421 POLB-201 protein_coding not available ENSP00000265421.4 8:42,338,494 - 42,371,808 +

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.