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

POLN

POLN

protein_coding 4 2,071,918 - 2,242,138 PDO SQLite primary read-only query mode
Overview Summary GO UniProt Representative Transcripts FASTA ClinVar disease associations

Overview

Gene ID
ENSG00000130997
Gene type
protein_coding
Chromosome
4
Coordinates
2,071,918 - 2,242,138
Strand
-
Status
not available
NCBI summary UniProt GO Transcript FASTA Protein FASTA

Aliases

353497 CCDS3360 ENST00000511885.6 NM_181808 NM_181808.4 Q7Z5Q5 polymerase (DNA directed) nu polymerase (DNA) nu

Summary

GENCODE gene_type=protein_coding; HGNC symbol=POLN; HGNC name=DNA polymerase nu; alias_count=8; RefSeq=NM_181808; UniProt=Q7Z5Q5; MANE Select=ENST00000511885.6,NM_181808.4

Source: GENCODE + HGNC complete set

353497 • protein-coding

This gene encodes a DNA polymerase type-A family member. The encoded protein plays a role in DNA repair and homologous recombination. This gene shares its 5' exons with some transcripts from overlapping GeneID: 79441, which encodes an augmentin-like protein complex subunit. [provided by RefSeq, Dec 2014]

NCBI Gene

UniProt

Q7Z5Q5 • reviewed

DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template (PubMed:16787914, PubMed:17118716). Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dT regardless of template sequence (PubMed:25775266). May play a role in TLS during interstrand cross-link (ICL) repair (PubMed:19908865). May be involved in TLS when genomic replication is blocked by extremely large major groove DNA lesions. May function in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linking agents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with HELQ helicase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904)

DNA polymerase nu · Nucleus · EC 2.7.7.7

Q7Z5Q5 • reviewed

DNA polymerase with very low fidelity that catalyzes considerable misincorporation by inserting dTTP opposite a G template, and dGTP opposite a T template (PubMed:16787914, PubMed:17118716). Is the least accurate of the DNA polymerase A family (i.e. POLG, POLN and POLQ) (PubMed:17118716). Can perform accurate translesion DNA synthesis (TLS) past a 5S-thymine glycol. Can perform efficient strand displacement past a nick or a gap and gives rise to an amount of product similar to that on non-damaged template. Has no exonuclease activity (PubMed:16787914). Error-prone DNA polymerase that preferentially misincorporates dT regardless of template sequence (PubMed:25775266). May play a role in TLS during interstrand cross-link (ICL) repair (PubMed:19908865). May be involved in TLS when genomic replication is blocked by extremely large major groove DNA lesions. May function in the bypass of some DNA-protein and DNA-DNA cross-links. May have a role in cellular tolerance to DNA cross-linking agents (PubMed:20102227). Involved in the repair of DNA cross-links and double-strand break (DSB) resistance. Participates in FANCD2-mediated repair. Forms a complex with HELQ helicase that participates in homologous recombination (HR) repair and is essential for cellular protection against DNA cross-links (PubMed:19995904)

DNA polymerase nu · Nucleus · EC 2.7.7.7

GO annotations

Biological process
  • GO:0006281 DNA repair (IEA)
  • GO:0006260 DNA replication (IEA)
  • GO:0006260 DNA replication (IEA)
  • GO:0006261 DNA-templated DNA replication (IEA)
  • GO:0006302 double-strand break repair (IBA)
  • GO:0000724 double-strand break repair via homologous recombination (IMP)
  • GO:0036297 interstrand cross-link repair (IMP)
  • GO:0036297 interstrand cross-link repair (IMP)
  • GO:0036297 interstrand cross-link repair (TAS)
  • GO:0019985 translesion synthesis (IMP)

+ 1 more

Cellular component
  • GO:0005730 nucleolus (IDA)
  • GO:0005654 nucleoplasm (IDA)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005654 nucleoplasm (TAS)
  • GO:0005634 nucleus (IEA)
  • GO:0005634 nucleus (IDA)
Molecular function
  • GO:0003677 DNA binding (IEA)
  • GO:0034061 DNA polymerase activity (IEA)
  • GO:0034061 DNA polymerase activity (EXP)
  • GO:0034061 DNA polymerase activity (EXP)
  • GO:0003887 DNA-directed DNA polymerase activity (IEA)
  • GO:0003887 DNA-directed DNA polymerase activity (IEA)
  • GO:0003887 DNA-directed DNA polymerase activity (IEA)
  • GO:0003887 DNA-directed DNA polymerase activity (IDA)
  • GO:0003887 DNA-directed DNA polymerase activity (IDA)
  • GO:0003887 DNA-directed DNA polymerase activity (IDA)

+ 7 more

Representative

Representative transcript
ENST00000382865
Representative protein
ENSP00000372316.1
Representative type
CCDS
Candidate count
3

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

Transcript FASTA Protein FASTA

Transcripts

Transcript ID Name Type Status Protein Location
ENST00000382865 POLN-201 protein_coding not available ENSP00000372316.1 4:2,071,918 - 2,229,231 -
ENST00000511885 POLN-210 protein_coding not available ENSP00000435506.1 4:2,071,918 - 2,242,121 -
ENST00001026867 POLN-214 protein_coding not available ENSP00000696684.1 4:2,071,918 - 2,242,121 -
ENST00001122702 POLN-216 protein_coding not available ENSP00000792507.1 4:2,071,918 - 2,242,134 -
ENST00001141558 POLN-217 protein_coding not available ENSP00000813827.1 4:2,071,918 - 2,242,134 -
ENST00000503371 POLN-202 protein_coding_CDS_not_defined not available not available 4:2,071,922 - 2,077,058 -
ENST00000511098 POLN-208 protein_coding not available ENSP00000426401.1 4:2,071,950 - 2,179,387 -
ENST00001118229 POLN-215 nonsense_mediated_decay not available ENSP00000788034.1 4:2,071,956 - 2,242,138 -
ENST00000511777 POLN-209 retained_intron not available not available 4:2,071,960 - 2,081,053 -
ENST00000514521 POLN-211 protein_coding_CDS_not_defined not available not available 4:2,071,960 - 2,076,447 -
ENST00000509623 POLN-206 protein_coding_CDS_not_defined not available not available 4:2,078,485 - 2,081,041 -
ENST00000514858 POLN-212 retained_intron not available not available 4:2,078,492 - 2,208,111 -
ENST00000508568 POLN-205 protein_coding_CDS_not_defined not available not available 4:2,081,110 - 2,083,010 -
ENST00000503601 POLN-203 retained_intron not available not available 4:2,081,396 - 2,090,305 -
ENST00000515357 POLN-213 protein_coding_CDS_not_defined not available not available 4:2,156,394 - 2,242,121 -
ENST00000510344 POLN-207 retained_intron not available not available 4:2,156,497 - 2,159,211 -
ENST00000506518 POLN-204 protein_coding_CDS_not_defined not available not available 4:2,208,327 - 2,232,143 -

FASTA

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

Open transcript export Open protein export

ClinVar disease associations

ClinVar disease associations: 0

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