POLL DNA polymerase lambda [Homo sapiens (human)] - Gene

Summary

Official Symbol: POLLprovided by HGNC
Official Full Name: DNA polymerase lambdaprovided by HGNC
Primary source: HGNC:HGNC:9184
See related: Ensembl:ENSG00000166169 MIM:606343; AllianceGenome:HGNC:9184
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BETAN; POLKAPPA
Summary: This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]
Expression: Ubiquitous expression in testis (RPKM 14.9), ovary (RPKM 7.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.32

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (101578882..101588270, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (102462924..102472307, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (103338639..103348027, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sustained pigmentation causes DNA damage and invokes translesion polymerase Polkappa for repair in melanocytes.
Title: Sustained pigmentation causes DNA damage and invokes translesion polymerase Polκ for repair in melanocytes.
A Role for Human DNA Polymerase lambda in Alternative Lengthening of Telomeres.
Title: A Role for Human DNA Polymerase λ in Alternative Lengthening of Telomeres.
PAXX, XLF and XRCC4 synergise in the efficient DNA double-strand breaks recruitment, substrate recognition and stimulation of Pol lambda enzymatic activity during nonhomologous end joining DNA repair.
Title: PAXX and its paralogs synergistically direct DNA polymerase λ activity in DNA repair.
Bond formation and cleavage reactions catalyzed by base excision repair DNA polymerases beta and lambda has been described.
Title: Uniform Free-Energy Profiles of the P-O Bond Formation and Cleavage Reactions Catalyzed by DNA Polymerases β and λ.
When mutated or deregulated, DNA polymerase lambda can also be a source of genetic instability. Its multiple roles in DNA damage tolerance and its ability in promoting tumor progression make it also a possible target for novel anticancer approaches. [review]
Title: Living on the Edge: DNA Polymerase Lambda between Genome Stability and Mutagenesis.
Data suggest that individuals who carry the rs3730477 POLL germline variant have an increased risk of estrogen-associated breast cancer.
Title: Estrogen Drives Cellular Transformation and Mutagenesis in Cells Expressing the Breast Cancer-Associated R438W DNA Polymerase Lambda Protein.
T204 was identified as a main target for ATM/DNA-PKcs phosphorylation on human POLL, and this phosphorylation may facilitate the repair of a subset of IR-induced DSBs and the efficient POLL-mediated gap-filling during NHEJ. POLL phosphorylation might favor POLL interaction with the DNA-PK complex at DSBs.
Title: Regulation of human polλ by ATM-mediated phosphorylation during non-homologous end joining.
The authors demonstrate that Pol lambda has a flexible active site that can tolerate 8-oxo-dG in either the anti- or syn-conformation. Importantly, we show that discrimination against the pro-mutagenic syn-conformation occurs at the extension step and identify the residue responsible for this selectivity.
Title: A fidelity mechanism in DNA polymerase lambda promotes error-free bypass of 8-oxo-dG.
Pol beta, to a greater extent than Pol lambda can incorporate rNMPs opposite normal bases or 8-oxo-G, and with a different fidelity. Further, the incorporation of rNMPs opposite 8-oxo-G delays repair by DNA glycosylases.
Title: Impact of ribonucleotide incorporation by DNA polymerases β and λ on oxidative base excision repair.
Fen1 significantly stimulated trinucleotide repeats expansion by Pol beta, but not by the related enzyme Pol lambda.
Title: Expansion of CAG triplet repeats by human DNA polymerases λ and β in vitro, is regulated by flap endonuclease 1 and DNA ligase 1.

Submit: New GeneRIF Correction See all GeneRIFs (65)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2011-12-21) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2011-12-21) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 5'-deoxyribose-5-phosphate lyase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	NAS Non-traceable Author Statement more info	PubMed
enables DNA-directed DNA polymerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-directed DNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-directed DNA polymerase activity	NAS Non-traceable Author Statement more info	PubMed
enables DNA-directed DNA polymerase activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA replication	NAS Non-traceable Author Statement more info	PubMed
involved_in base-excision repair, gap-filling	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via nonhomologous end joining	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	TAS Traceable Author Statement more info
involved_in nucleotide-excision repair	IDA Inferred from Direct Assay more info	PubMed
involved_in somatic hypermutation of immunoglobulin genes	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA polymerase lambda

Names: DNA polymerase beta-2; DNA polymerase beta-N; DNA polymerase kappa; polymerase (DNA directed), lambda; polymerase (DNA) lambda

NP_001167555.1

EC 2.7.7.7

NP_001167556.1

EC 2.7.7.7

NP_001295311.1

EC 2.7.7.7

NP_037406.1

EC 2.7.7.7

XP_006717838.1

EC 2.7.7.7

XP_006717840.1

EC 2.7.7.7

XP_011537952.1

EC 2.7.7.7

XP_011537953.1

EC 2.7.7.7

XP_011537956.1

EC 2.7.7.7

XP_011537957.1

EC 2.7.7.7

XP_011537958.1

EC 2.7.7.7

XP_011537959.1

EC 2.7.7.7

XP_011537964.1

EC 2.7.7.7

XP_011537966.1

EC 2.7.7.7

XP_016871573.1

EC 2.7.7.7

XP_016871574.1

EC 2.7.7.7

XP_016871577.1

EC 2.7.7.7

XP_016871579.1

EC 2.7.7.7

XP_016871580.1

EC 2.7.7.7

XP_024303710.1

EC 2.7.7.7

XP_024303711.1

EC 2.7.7.7

XP_024303713.2

EC 2.7.7.7

XP_047281042.1

EC 2.7.7.7

XP_047281043.1

EC 2.7.7.7

XP_047281044.1

EC 2.7.7.7

XP_047281045.1

EC 2.7.7.7

XP_047281046.1

EC 2.7.7.7

XP_047281047.1

EC 2.7.7.7

XP_047281048.1

EC 2.7.7.7

XP_047281049.1

EC 2.7.7.7

XP_047281050.1

EC 2.7.7.7

XP_047281051.1

EC 2.7.7.7

XP_047281052.1

EC 2.7.7.7

XP_047281053.1

EC 2.7.7.7

XP_047281054.1

EC 2.7.7.7

XP_054221561.1

EC 2.7.7.7

XP_054221562.1

EC 2.7.7.7

XP_054221563.1

EC 2.7.7.7

XP_054221564.1

EC 2.7.7.7

XP_054221565.1

EC 2.7.7.7

XP_054221566.1

EC 2.7.7.7

XP_054221567.1

EC 2.7.7.7

XP_054221568.1

EC 2.7.7.7

XP_054221569.1

EC 2.7.7.7

XP_054221570.1

EC 2.7.7.7

XP_054221571.1

EC 2.7.7.7

XP_054221572.1

EC 2.7.7.7

XP_054221573.1

EC 2.7.7.7

XP_054221574.1

EC 2.7.7.7

XP_054221575.1

EC 2.7.7.7

XP_054221576.1

EC 2.7.7.7

XP_054221577.1

EC 2.7.7.7

XP_054221578.1

EC 2.7.7.7

XP_054221579.1

EC 2.7.7.7

XP_054221580.1

EC 2.7.7.7

XP_054221581.1

EC 2.7.7.7

XP_054221582.1

EC 2.7.7.7

XP_054221583.1

EC 2.7.7.7

XP_054221584.1

EC 2.7.7.7

XP_054221585.1

EC 2.7.7.7

XP_054221586.1

EC 2.7.7.7

XP_054221587.1

EC 2.7.7.7

XP_054221588.1

EC 2.7.7.7

XP_054221589.1

EC 2.7.7.7

XP_054221590.1

EC 2.7.7.7

XP_054221591.1

EC 2.7.7.7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_017063.1 RefSeqGene

Range

5014..14389

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001174084.2 → NP_001167555.1 DNA polymerase lambda isoform a

See identical proteins and their annotated locations for NP_001167555.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Both variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AJ131890, BC068529, DC296090

Consensus CDS

CCDS7513.1

UniProtKB/Swiss-Prot

D3DR76, Q5JQP5, Q6NUM2, Q9BTN8, Q9HA10, Q9HB35, Q9UGP5

UniProtKB/TrEMBL

Q9HAJ3

Related

ENSP00000359181.3, ENST00000370162.8

Conserved Domains (2) summary

cd00141
Location:255 → 573

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

smart00483
Location:251 → 574

POLXc; DNA polymerase X family
NM_001174085.2 → NP_001167556.1 DNA polymerase lambda isoform b

See identical proteins and their annotated locations for NP_001167556.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and uses an alternate in-frame splice site in the middle portion of the coding region, compared to variant 1. This results in a shorter protein (isoform b, also known as lambda2), compared to isoform a.

Source sequence(s)

AK292225, BC068529, DC409528

UniProtKB/TrEMBL

A8K860, Q5QJV5

Conserved Domains (1) summary

cd00141
Location:202 → 481

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
NM_001308382.2 → NP_001295311.1 DNA polymerase lambda isoform c

See identical proteins and their annotated locations for NP_001295311.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks three exons in the 5' coding region, compared to variant 1. This results in the use of an alternate start codon and a frameshifted 5' coding region. The encoded isoform (c) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AF161019, BI906881, DA107389

Consensus CDS

CCDS76332.1

UniProtKB/TrEMBL

Q5JQP4

Related

ENSP00000485885.1, ENST00000628479.2

Conserved Domains (1) summary

cd00141
Location:22 → 298

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
NM_013274.4 → NP_037406.1 DNA polymerase lambda isoform a

See identical proteins and their annotated locations for NP_037406.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).

Source sequence(s)

AJ131890, BC068529, DC409528

Consensus CDS

CCDS7513.1

UniProtKB/Swiss-Prot

D3DR76, Q5JQP5, Q6NUM2, Q9BTN8, Q9HA10, Q9HB35, Q9UGP5

UniProtKB/TrEMBL

Q9HAJ3

Related

ENSP00000299206.4, ENST00000299206.8

Conserved Domains (2) summary

cd00141
Location:255 → 573

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

smart00483
Location:251 → 574

POLXc; DNA polymerase X family

RNA

NR_033406.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AK022476, BC068529, DC379162

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

101578882..101588270 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047425090.1 → XP_047281046.1 DNA polymerase lambda isoform X15
XM_047425094.1 → XP_047281050.1 DNA polymerase lambda isoform X19
XM_047425092.1 → XP_047281048.1 DNA polymerase lambda isoform X17
XM_047425088.1 → XP_047281044.1 DNA polymerase lambda isoform X10

UniProtKB/TrEMBL

Q5JQP8

Related

ENSP00000359191.1, ENST00000370172.5
XM_047425087.1 → XP_047281043.1 DNA polymerase lambda isoform X9
XM_024447945.2 → XP_024303713.2 DNA polymerase lambda isoform X23

UniProtKB/TrEMBL

B4DE17
XM_017016090.2 → XP_016871579.1 DNA polymerase lambda isoform X13

Conserved Domains (1) summary

cl00038
Location:61 → 127

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
XM_017016088.3 → XP_016871577.1 DNA polymerase lambda isoform X11

Conserved Domains (1) summary

cl00038
Location:61 → 127

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
XM_047425086.1 → XP_047281042.1 DNA polymerase lambda isoform X8
XM_011539656.2 → XP_011537958.1 DNA polymerase lambda isoform X6

UniProtKB/TrEMBL

Q5QJV5

Conserved Domains (1) summary

cd00141
Location:188 → 474

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_011539655.2 → XP_011537957.1 DNA polymerase lambda isoform X4

See identical proteins and their annotated locations for XP_011537957.1

UniProtKB/TrEMBL

A8K860, Q5QJV5

Conserved Domains (1) summary

cd00141
Location:202 → 481

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_011539654.2 → XP_011537956.1 DNA polymerase lambda isoform X3

UniProtKB/TrEMBL

Q5QJV5

Related

ENSP00000400676.1, ENST00000415897.5

Conserved Domains (1) summary

cd00141
Location:202 → 488

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_017016085.2 → XP_016871574.1 DNA polymerase lambda isoform X7
XM_017016084.2 → XP_016871573.1 DNA polymerase lambda isoform X5
XM_011539651.2 → XP_011537953.1 DNA polymerase lambda isoform X2

See identical proteins and their annotated locations for XP_011537953.1

UniProtKB/Swiss-Prot

D3DR76, Q5JQP5, Q6NUM2, Q9BTN8, Q9HA10, Q9HB35, Q9UGP5

UniProtKB/TrEMBL

Q9HAJ3

Related

ENSP00000359188.1, ENST00000370169.5

Conserved Domains (2) summary

cd00141
Location:255 → 573

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

smart00483
Location:251 → 574

POLXc; DNA polymerase X family
XM_011539650.2 → XP_011537952.1 DNA polymerase lambda isoform X1

See identical proteins and their annotated locations for XP_011537952.1

UniProtKB/TrEMBL

Q9HAJ3

Conserved Domains (2) summary

cd00141
Location:255 → 580

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

smart00483
Location:251 → 581

POLXc; DNA polymerase X family
XM_011539657.2 → XP_011537959.1 DNA polymerase lambda isoform X9

See identical proteins and their annotated locations for XP_011537959.1

UniProtKB/TrEMBL

Q9HAJ3

Conserved Domains (1) summary

cd00141
Location:167 → 492

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_047425095.1 → XP_047281051.1 DNA polymerase lambda isoform X20
XM_047425093.1 → XP_047281049.1 DNA polymerase lambda isoform X18
XM_047425091.1 → XP_047281047.1 DNA polymerase lambda isoform X16
XM_024447943.2 → XP_024303711.1 DNA polymerase lambda isoform X10

UniProtKB/TrEMBL

Q5JQP8, Q9HAJ3

Conserved Domains (1) summary

cd00141
Location:167 → 485

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_024447942.2 → XP_024303710.1 DNA polymerase lambda isoform X9

UniProtKB/TrEMBL

Q9HAJ3

Conserved Domains (1) summary

cd00141
Location:167 → 492

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_006717777.3 → XP_006717840.1 DNA polymerase lambda isoform X28

See identical proteins and their annotated locations for XP_006717840.1

UniProtKB/TrEMBL

Q5JQP4

Related

ENSP00000343102.3, ENST00000339310.7

Conserved Domains (1) summary

cd00141
Location:22 → 298

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_011539664.3 → XP_011537966.1 DNA polymerase lambda isoform X26

See identical proteins and their annotated locations for XP_011537966.1

UniProtKB/TrEMBL

Q5JQP4

Conserved Domains (1) summary

cd00141
Location:22 → 305

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_006717775.3 → XP_006717838.1 DNA polymerase lambda isoform X25

See identical proteins and their annotated locations for XP_006717838.1

UniProtKB/TrEMBL

B4DEF5

Conserved Domains (1) summary

cd00141
Location:33 → 312

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_011539662.3 → XP_011537964.1 DNA polymerase lambda isoform X24

See identical proteins and their annotated locations for XP_011537964.1

UniProtKB/TrEMBL

B4DEF5

Conserved Domains (1) summary

cd00141
Location:33 → 319

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_017016091.3 → XP_016871580.1 DNA polymerase lambda isoform X14
XM_047425089.1 → XP_047281045.1 DNA polymerase lambda isoform X12
XM_047425098.1 → XP_047281054.1 DNA polymerase lambda isoform X27
XM_047425096.1 → XP_047281052.1 DNA polymerase lambda isoform X21

Related

ENSP00000400517.1, ENST00000413344.5
XM_047425097.1 → XP_047281053.1 DNA polymerase lambda isoform X22