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POLL DNA polymerase lambda [ Homo sapiens (human) ]

Gene ID: 27343, updated on 7-Dec-2018

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
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

Genomic context

See POLL in Genome Data Viewer
Location:
10q24.32
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (101578882..101588319, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103338639..103348027, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene RNA, U2 small nuclear 59, pseudogene Neighboring gene beta-transducin repeat containing E3 ubiquitin protein ligase Neighboring gene VISTA enhancer hs326 Neighboring gene microRNA 3158-1 Neighboring gene microRNA 3158-2 Neighboring gene deleted in primary ciliary dyskinesia homolog (mouse) Neighboring gene RNA, U6 small nuclear 1165, pseudogene Neighboring gene F-box and WD repeat domain containing 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • BER complex, organism-specific biosystem (from KEGG)
    BER complex, organism-specific biosystemStructural complex; Genetic information processing; Repair system
  • BER complex, conserved biosystem (from KEGG)
    BER complex, conserved biosystemStructural complex; Genetic information processing; Repair system
  • Base excision repair, organism-specific biosystem (from KEGG)
    Base excision repair, organism-specific biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
  • Base excision repair, conserved biosystem (from KEGG)
    Base excision repair, conserved biosystemBase excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair ...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Non-homologous end-joining, organism-specific biosystem (from KEGG)
    Non-homologous end-joining, organism-specific biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
  • Non-homologous end-joining, conserved biosystem (from KEGG)
    Non-homologous end-joining, conserved biosystemNonhomologous end joining (NHEJ) eliminates DNA double-strand breaks (DSBs) by direct ligation. NHEJ involves binding of the KU heterodimer to double-stranded DNA ends, recruitment of DNA-PKcs (MRX c...
  • Nonhomologous End-Joining (NHEJ), organism-specific biosystem (from REACTOME)
    Nonhomologous End-Joining (NHEJ), organism-specific biosystemThe nonhomologous end joining (NHEJ) pathway is initiated in response to the formation of DNA double-strand breaks (DSBs) induced by DNA-damaging agents, such as ionizing radiation. DNA DSBs are reco...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46002

Gene Ontology Provided by GOA

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

General protein information

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
NP_001167556.1
NP_001295311.1
NP_037406.1
XP_006717838.1
XP_006717839.1
XP_006717840.1
XP_011537952.1
XP_011537953.1
XP_011537954.1
XP_011537955.1
XP_011537956.1
XP_011537957.1
XP_011537958.1
XP_011537959.1
XP_011537962.1
XP_011537964.1
XP_011537965.1
XP_011537966.1
XP_011537967.1
XP_011537968.1
XP_011537969.1
XP_016871573.1
XP_016871574.1
XP_016871575.1
XP_016871576.1
XP_016871577.1
XP_016871578.1
XP_016871579.1
XP_016871580.1
XP_016871581.1
XP_016871582.1
XP_024303710.1
XP_024303711.1
XP_024303712.1
XP_024303713.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_017063.1 RefSeqGene

    Range
    5001..14389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001174084.2NP_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
    Q9UGP5
    Related
    ENSP00000359181.3, ENST00000370162.7
    Conserved Domains (2) summary
    cd00141
    Location:255573
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:251574
    POLXc; DNA polymerase X family
  2. NM_001174085.1NP_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, DC379162, DC409528
    UniProtKB/Swiss-Prot
    Q9UGP5
    UniProtKB/TrEMBL
    A8K860
    Conserved Domains (1) summary
    cd00141
    Location:202481
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  3. NM_001308382.1NP_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/Swiss-Prot
    Q9UGP5
    Related
    ENSP00000485885.1, ENST00000628479.2
    Conserved Domains (1) summary
    cd00141
    Location:22298
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  4. NM_013274.3NP_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, DC379162, DC409528
    Consensus CDS
    CCDS7513.1
    UniProtKB/Swiss-Prot
    Q9UGP5
    Related
    ENSP00000299206.4, ENST00000299206.8
    Conserved Domains (2) summary
    cd00141
    Location:255573
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:251574
    POLXc; DNA polymerase X family

RNA

  1. NR_033406.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks the translational start codon found in variant 1 and is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK022476, BC068529, DC379162

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    101578882..101588319 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447945.1XP_024303713.1  DNA polymerase lambda isoform X17

    Conserved Domains (1) summary
    cd00141
    Location:48335
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  2. XM_024447944.1XP_024303712.1  DNA polymerase lambda isoform X16

    Conserved Domains (1) summary
    cd00141
    Location:48342
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  3. XM_011539666.1XP_011537968.1  DNA polymerase lambda isoform X20

    See identical proteins and their annotated locations for XP_011537968.1

    Conserved Domains (1) summary
    cd00141
    Location:22305
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  4. XM_017016090.1XP_016871579.1  DNA polymerase lambda isoform X14

    Conserved Domains (1) summary
    cl00038
    Location:61127
    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 ...
  5. XM_011539656.1XP_011537958.1  DNA polymerase lambda isoform X6

    Conserved Domains (1) summary
    cd00141
    Location:188474
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  6. XM_017016087.1XP_016871576.1  DNA polymerase lambda isoform X11

  7. XM_011539655.1XP_011537957.1  DNA polymerase lambda isoform X4

    See identical proteins and their annotated locations for XP_011537957.1

    UniProtKB/TrEMBL
    A8K860
    Conserved Domains (1) summary
    cd00141
    Location:202481
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  8. XM_011539654.1XP_011537956.1  DNA polymerase lambda isoform X3

    Related
    ENSP00000400676.1, ENST00000415897.5
    Conserved Domains (1) summary
    cd00141
    Location:202488
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  9. XM_017016085.1XP_016871574.1  DNA polymerase lambda isoform X7

  10. XM_017016084.1XP_016871573.1  DNA polymerase lambda isoform X5

  11. XM_011539651.1XP_011537953.1  DNA polymerase lambda isoform X2

    See identical proteins and their annotated locations for XP_011537953.1

    UniProtKB/Swiss-Prot
    Q9UGP5
    Related
    ENSP00000359188.1, ENST00000370169.5
    Conserved Domains (2) summary
    cd00141
    Location:255573
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:251574
    POLXc; DNA polymerase X family
  12. XM_011539650.1XP_011537952.1  DNA polymerase lambda isoform X1

    See identical proteins and their annotated locations for XP_011537952.1

    Conserved Domains (2) summary
    cd00141
    Location:255580
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:251581
    POLXc; DNA polymerase X family
  13. XM_011539660.1XP_011537962.1  DNA polymerase lambda isoform X13

    See identical proteins and their annotated locations for XP_011537962.1

    Conserved Domains (2) summary
    cd00141
    Location:86411
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:82412
    POLXc; DNA polymerase X family
  14. XM_011539657.1XP_011537959.1  DNA polymerase lambda isoform X8

    See identical proteins and their annotated locations for XP_011537959.1

    Conserved Domains (1) summary
    cd00141
    Location:167492
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  15. XM_006717776.1XP_006717839.1  DNA polymerase lambda isoform X19

    See identical proteins and their annotated locations for XP_006717839.1

    Conserved Domains (1) summary
    cd00141
    Location:33312
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  16. XM_011539663.1XP_011537965.1  DNA polymerase lambda isoform X18

    See identical proteins and their annotated locations for XP_011537965.1

    Conserved Domains (1) summary
    cd00141
    Location:33319
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  17. XM_011539667.1XP_011537969.1  DNA polymerase lambda isoform X22

    See identical proteins and their annotated locations for XP_011537969.1

    UniProtKB/TrEMBL
    B4DE17
    Conserved Domains (1) summary
    cd00141
    Location:1265
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  18. XM_011539653.1XP_011537955.1  DNA polymerase lambda isoform X1

    See identical proteins and their annotated locations for XP_011537955.1

    Conserved Domains (2) summary
    cd00141
    Location:255580
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:251581
    POLXc; DNA polymerase X family
  19. XM_017016089.1XP_016871578.1  DNA polymerase lambda isoform X13

    Conserved Domains (2) summary
    cd00141
    Location:86411
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:82412
    POLXc; DNA polymerase X family
  20. XM_017016093.1XP_016871582.1  DNA polymerase lambda isoform X20

    Conserved Domains (1) summary
    cd00141
    Location:22305
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  21. XM_024447943.1XP_024303711.1  DNA polymerase lambda isoform X9

    Related
    ENSP00000359191.1, ENST00000370172.5
    Conserved Domains (1) summary
    cd00141
    Location:167485
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  22. XM_024447942.1XP_024303710.1  DNA polymerase lambda isoform X8

    Conserved Domains (1) summary
    cd00141
    Location:167492
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  23. XM_011539665.2XP_011537967.1  DNA polymerase lambda isoform X20

    See identical proteins and their annotated locations for XP_011537967.1

    Conserved Domains (1) summary
    cd00141
    Location:22305
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  24. XM_006717777.2XP_006717840.1  DNA polymerase lambda isoform X21

    See identical proteins and their annotated locations for XP_006717840.1

    UniProtKB/Swiss-Prot
    Q9UGP5
    Related
    ENSP00000343102.3, ENST00000339310.7
    Conserved Domains (1) summary
    cd00141
    Location:22298
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  25. XM_011539664.2XP_011537966.1  DNA polymerase lambda isoform X20

    See identical proteins and their annotated locations for XP_011537966.1

    Conserved Domains (1) summary
    cd00141
    Location:22305
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  26. XM_006717775.2XP_006717838.1  DNA polymerase lambda isoform X19

    See identical proteins and their annotated locations for XP_006717838.1

    Conserved Domains (1) summary
    cd00141
    Location:33312
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  27. XM_011539662.2XP_011537964.1  DNA polymerase lambda isoform X18

    See identical proteins and their annotated locations for XP_011537964.1

    Conserved Domains (1) summary
    cd00141
    Location:33319
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
  28. XM_017016091.2XP_016871580.1  DNA polymerase lambda isoform X15

  29. XM_017016086.2XP_016871575.1  DNA polymerase lambda isoform X10

  30. XM_011539652.2XP_011537954.1  DNA polymerase lambda isoform X1

    See identical proteins and their annotated locations for XP_011537954.1

    Conserved Domains (2) summary
    cd00141
    Location:255580
    NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    smart00483
    Location:251581
    POLXc; DNA polymerase X family
  31. XM_017016088.2XP_016871577.1  DNA polymerase lambda isoform X12

    Conserved Domains (1) summary
    cl00038
    Location:61127
    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 ...
  32. XM_017016092.2XP_016871581.1  DNA polymerase lambda isoform X12

    Conserved Domains (1) summary
    cl00038
    Location:61127
    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 ...
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