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    POLL DNA polymerase lambda [ Homo sapiens (human) ]

    Gene ID: 27343, updated on 5-Nov-2017
    Official Symbol
    POLLprovided by HGNC
    Official Full Name
    DNA polymerase lambdaprovided by HGNC
    Primary source
    HGNC:HGNC:9184
    See related
    Ensembl:ENSG00000166169 MIM:606343; Vega:OTTHUMG00000018933
    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
    Location:
    10q24.32
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 10 NC_000010.11 (101578882..101588270, 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 uncharacterized LOC105378454 Neighboring gene RNA, U2 small nuclear 59, pseudogene Neighboring gene beta-transducin repeat containing E3 ubiquitin protein ligase 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    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 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 NAS
    Non-traceable Author Statement
    more info
    PubMed 
    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_011537961.1
    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

    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_001174084.1NP_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, DC379162
      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, OTTHUMP00000020321, ENST00000299206.8, OTTHUMT00000049946
      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
      Related
      ENST00000370172.5, OTTHUMT00000049953

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p7 Primary Assembly

      Range
      101578882..101588270 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011539666.1XP_011537968.1  DNA polymerase lambda isoform X17

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

      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 ...
    3. 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
    4. XM_017016087.1XP_016871576.1  DNA polymerase lambda isoform X10

    5. 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
    6. XM_011539654.1XP_011537956.1  DNA polymerase lambda isoform X3

      Related
      ENSP00000400676.1, OTTHUMP00000020320, ENST00000415897.5, OTTHUMT00000049945
      Conserved Domains (1) summary
      cd00141
      Location:202488
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    7. XM_017016085.1XP_016871574.1  DNA polymerase lambda isoform X7

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

    9. 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, OTTHUMP00000020323, ENST00000370169.5, OTTHUMT00000049949
      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
    10. 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
    11. XM_011539660.1XP_011537962.1  DNA polymerase lambda isoform X12

      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
    12. XM_011539657.1XP_011537959.1  DNA polymerase lambda isoform X8

      See identical proteins and their annotated locations for XP_011537959.1

      Conserved Domains (2) summary
      cd00141
      Location:167492
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
      smart00483
      Location:163493
      POLXc; DNA polymerase X family
    13. XM_006717776.1XP_006717839.1  DNA polymerase lambda isoform X16

      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
    14. XM_011539663.1XP_011537965.1  DNA polymerase lambda isoform X15

      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
    15. XM_011539667.1XP_011537969.1  DNA polymerase lambda isoform X19

      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
    16. 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
    17. XM_017016089.1XP_016871578.1  DNA polymerase lambda isoform X12

      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
    18. XM_017016093.1XP_016871582.1  DNA polymerase lambda isoform X17

      Conserved Domains (1) summary
      cd00141
      Location:22305
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    19. XM_011539665.2XP_011537967.1  DNA polymerase lambda isoform X17

      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
    20. XM_006717777.1XP_006717840.1  DNA polymerase lambda isoform X18

      See identical proteins and their annotated locations for XP_006717840.1

      UniProtKB/Swiss-Prot
      Q9UGP5
      Related
      ENSP00000343102.3, OTTHUMP00000020325, ENST00000339310.7, OTTHUMT00000049951
      Conserved Domains (1) summary
      cd00141
      Location:22298
      NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
    21. XM_011539664.1XP_011537966.1  DNA polymerase lambda isoform X17

      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
    22. XM_006717775.1XP_006717838.1  DNA polymerase lambda isoform X16

      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
    23. XM_011539662.1XP_011537964.1  DNA polymerase lambda isoform X15

      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
    24. XM_017016091.1XP_016871580.1  DNA polymerase lambda isoform X14

    25. XM_011539659.1XP_011537961.1  DNA polymerase lambda isoform X12

      See identical proteins and their annotated locations for XP_011537961.1

      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
    26. XM_017016086.1XP_016871575.1  DNA polymerase lambda isoform X9

    27. XM_011539652.1XP_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
    28. XM_017016088.1XP_016871577.1  DNA polymerase lambda isoform X11

      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 ...
    29. XM_017016092.1XP_016871581.1  DNA polymerase lambda isoform X11

      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 ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018921.2 Alternate CHM1_1.1

      Range
      103622300..103631683 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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