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    POLI DNA polymerase iota [ Homo sapiens (human) ]

    Gene ID: 11201, updated on 3-Dec-2024

    Summary

    Official Symbol
    POLIprovided by HGNC
    Official Full Name
    DNA polymerase iotaprovided by HGNC
    Primary source
    HGNC:HGNC:9182
    See related
    Ensembl:ENSG00000101751 MIM:605252; AllianceGenome:HGNC:9182
    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
    eta2; RAD30B; RAD3OB
    Summary
    The protein encoded by this gene is an error-prone DNA polymerase involved in DNA repair. The encoded protein promotes DNA synthesis across lesions in the template DNA, which other polymerases cannot do. The encoded polymerase inserts deoxynucleotides across lesions and then relies on DNA polymerase zeta to extend the nascent DNA strand to bypass the lesion. [provided by RefSeq, May 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.1), testis (RPKM 7.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See POLI in Genome Data Viewer
    Location:
    18q21.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (54269479..54321266)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (54472557..54524344)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (51795849..51847636)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:51751880-51752422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:51752423-51752963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13342 Neighboring gene small nucleolar RNA, H/ACA box 37 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:51772851-51773736 Neighboring gene uncharacterized LOC124904306 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:51773737-51774623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:51779086-51779588 Neighboring gene uncharacterized LOC124904307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13348 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:51835674-51836224 Neighboring gene StAR related lipid transfer domain containing 6 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:51884780-51885291 Neighboring gene chromosome 18 open reading frame 54

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-directed DNA polymerase activity TAS
    Traceable Author Statement
    more info
     
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    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 repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in error-prone translesion synthesis TAS
    Traceable Author Statement
    more info
     
    involved_in translesion synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic ribonucleoprotein granule IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    DNA polymerase iota
    Names
    RAD30 homolog B
    polymerase (DNA directed) iota
    polymerase (DNA) iota
    polymerase (DNA-directed), iota
    NP_001338539.1
    NP_001338540.1
    NP_001338541.1
    NP_001338542.1
    NP_001338543.1
    NP_001338544.1
    NP_001338545.1
    NP_001338546.1
    NP_001338547.1
    NP_001338548.1
    NP_001338549.1
    NP_001338550.1
    NP_001338561.1
    NP_009126.2
    XP_005258249.1
    XP_011524099.1
    XP_024306849.1
    XP_054174139.1
    XP_054174140.1
    XP_054174141.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001351610.1NP_001338539.1  DNA polymerase iota isoform b

      Status: REVIEWED

      Source sequence(s)
      AC093462
      UniProtKB/TrEMBL
      X6R2I3
      Conserved Domains (1) summary
      cl25410
      Location:39395
      PolY; Y-family of DNA polymerases
    2. NM_001351611.2NP_001338540.1  DNA polymerase iota isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variant 4, encodes isoform c.
      Source sequence(s)
      AC093462
      UniProtKB/TrEMBL
      X6R2I3
      Related
      ENSP00000217800.6, ENST00000217800.9
      Conserved Domains (1) summary
      cd01703
      Location:1369
      PolY_Pol_iota; DNA Polymerase iota
    3. NM_001351612.2NP_001338541.1  DNA polymerase iota isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.
      Source sequence(s)
      AC093462
      UniProtKB/TrEMBL
      X6R2I3
      Conserved Domains (1) summary
      cd01703
      Location:1369
      PolY_Pol_iota; DNA Polymerase iota
    4. NM_001351613.1NP_001338542.1  DNA polymerase iota isoform d

      Status: REVIEWED

      Source sequence(s)
      AC093462
      Consensus CDS
      CCDS86669.1
      UniProtKB/TrEMBL
      B7Z780, J3KQ09
      Related
      ENSP00000385196.3, ENST00000406285.7
      Conserved Domains (1) summary
      cl28996
      Location:56358
      PolY; Y-family of DNA polymerases
    5. NM_001351614.2NP_001338543.1  DNA polymerase iota isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 7, encodes isoform e.
      Source sequence(s)
      AC093462
      Consensus CDS
      CCDS86670.1
      UniProtKB/TrEMBL
      J3KSW2, X6R2I3
      Conserved Domains (1) summary
      cl25410
      Location:1334
      PolY; Y-family of DNA polymerases
    6. NM_001351615.2NP_001338544.1  DNA polymerase iota isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variant 6, encodes isoform e.
      Source sequence(s)
      AC093462
      Consensus CDS
      CCDS86670.1
      UniProtKB/TrEMBL
      J3KSW2, X6R2I3
      Related
      ENSP00000462681.1, ENST00000579434.5
      Conserved Domains (1) summary
      cl25410
      Location:1334
      PolY; Y-family of DNA polymerases
    7. NM_001351616.1NP_001338545.1  DNA polymerase iota isoform f

      Status: REVIEWED

      Source sequence(s)
      AC093462
      UniProtKB/TrEMBL
      B7Z780
      Conserved Domains (2) summary
      cl09928
      Location:333465
      Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...
      cl25410
      Location:39316
      PolY; Y-family of DNA polymerases
    8. NM_001351617.2NP_001338546.1  DNA polymerase iota isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 10 and 11, encodes isoform g.
      Source sequence(s)
      AC093462
      UniProtKB/TrEMBL
      X6R2I3
      Conserved Domains (2) summary
      cl09928
      Location:273405
      Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...
      cl25410
      Location:8256
      PolY; Y-family of DNA polymerases
    9. NM_001351618.2NP_001338547.1  DNA polymerase iota isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10), as well as variants 9 and 11, encodes isoform g.
      Source sequence(s)
      AC093462
      UniProtKB/TrEMBL
      X6R2I3
      Conserved Domains (2) summary
      cl09928
      Location:273405
      Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...
      cl25410
      Location:8256
      PolY; Y-family of DNA polymerases
    10. NM_001351619.2NP_001338548.1  DNA polymerase iota isoform g

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11), as well as variants 9 and 10, encodes isoform g.
      Source sequence(s)
      AC093462
      UniProtKB/TrEMBL
      X6R2I3
      Conserved Domains (2) summary
      cl09928
      Location:273405
      Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...
      cl25410
      Location:8256
      PolY; Y-family of DNA polymerases
    11. NM_001351620.2NP_001338549.1  DNA polymerase iota isoform h

      Status: REVIEWED

      Source sequence(s)
      AC093462
      Conserved Domains (2) summary
      cl09928
      Location:194326
      Molybdopterin-Binding; Molybdopterin-Binding (MopB) domain of the MopB superfamily of proteins, a large, diverse, heterogeneous superfamily of enzymes that, in general, bind molybdopterin as a cofactor. The MopB domain is found in a wide variety of molybdenum- and ...
      cl25410
      Location:7177
      PolY; Y-family of DNA polymerases
    12. NM_001351621.1NP_001338550.1  DNA polymerase iota isoform i

      Status: REVIEWED

      Source sequence(s)
      AC093462
      Conserved Domains (1) summary
      cl25410
      Location:56423
      PolY; Y-family of DNA polymerases
    13. NM_001351632.2NP_001338561.1  DNA polymerase iota isoform a (short)

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes two different proteins, isoform a (long) and isoform a (short). This particular record shows the short form, which originates by use of an in-frame downstream translation start codon compared to the long form. This short form lacks the N-terminal 25 aa present in the long form and represents the predominant isoform found in human cells.
      Source sequence(s)
      AC093462, BC032662, BM993293, DA315805, DB450447
      UniProtKB/TrEMBL
      X6R2I3
      Conserved Domains (1) summary
      cd01703
      Location:31412
      PolY_Pol_iota; DNA Polymerase iota
    14. NM_007195.3NP_009126.2  DNA polymerase iota isoform a (long)

      See identical proteins and their annotated locations for NP_009126.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein [isoform a (long)]. However, this full length (740 aa) form is a minor form. A downstream translation start site is more commonly used, resulting in a 715 aa protein [isoform a (short)].
      Source sequence(s)
      AC093462
      Consensus CDS
      CCDS11954.2
      UniProtKB/Swiss-Prot
      Q8N590, Q9H0S1, Q9NYH6, Q9UNA4
      UniProtKB/TrEMBL
      X6R2I3
      Related
      ENSP00000462664.1, ENST00000579534.6
      Conserved Domains (2) summary
      cd01703
      Location:56437
      PolY_Pol_iota; DNA Polymerase iota
      COG0389
      Location:53390
      DinP; Nucleotidyltransferase/DNA polymerase involved in DNA repair [Replication, recombination and repair]

    RNA

    1. NR_147257.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC093462

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      54269479..54321266
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011525797.2XP_011524099.1  DNA polymerase iota isoform X2

      See identical proteins and their annotated locations for XP_011524099.1

      Conserved Domains (1) summary
      cl25410
      Location:56423
      PolY; Y-family of DNA polymerases
    2. XM_005258192.5XP_005258249.1  DNA polymerase iota isoform X3

      Conserved Domains (2) summary
      COG0389
      Location:53390
      DinP; Nucleotidyltransferase/DNA polymerase involved in DNA repair [Replication, recombination and repair]
      cl12025
      Location:56399
      PolY; Y-family of DNA polymerases
    3. XM_024451081.2XP_024306849.1  DNA polymerase iota isoform X1

      UniProtKB/TrEMBL
      J3KSW2, X6R2I3
      Conserved Domains (1) summary
      cl25410
      Location:1334
      PolY; Y-family of DNA polymerases

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      54472557..54524344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054318165.1XP_054174140.1  DNA polymerase iota isoform X2

    2. XM_054318166.1XP_054174141.1  DNA polymerase iota isoform X3

    3. XM_054318164.1XP_054174139.1  DNA polymerase iota isoform X1

      UniProtKB/TrEMBL
      J3KSW2, X6R2I3