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POLI DNA polymerase iota [ Homo sapiens (human) ]

Gene ID: 11201, updated on 19-Aug-2020

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
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

Genomic context

See POLI in Genome Data Viewer
Location:
18q21.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (54269479..54321266)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (51795849..51837583)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L29 pseudogene 32 Neighboring gene methyl-CpG binding domain protein 2 Neighboring gene small nucleolar RNA, H/ACA box 37 Neighboring gene StAR related lipid transfer domain containing 6 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-directed DNA polymerase activity TAS
Traceable Author Statement
more info
 
damaged DNA binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair TAS
Traceable Author Statement
more info
PubMed 
DNA replication IEA
Inferred from Electronic Annotation
more info
 
error-prone translesion synthesis TAS
Traceable Author Statement
more info
 
translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translesion synthesis TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasmic ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 
intracellular IDA
Inferred from Direct Assay
more info
 
nuclear speck IDA
Inferred from Direct Assay
more info
 
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

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.

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC093462
    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
    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
    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
    Related
    ENSP00000385196.3, ENST00000406285.7
    Conserved Domains (1) summary
    cl25410
    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
    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
    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
    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 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9), as well as variants 10 and 11, encodes isoform g.
    Source sequence(s)
    AC093462
    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 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10), as well as variants 9 and 11, encodes isoform g.
    Source sequence(s)
    AC093462
    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 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11), as well as variants 9 and 10, encodes isoform g.
    Source sequence(s)
    AC093462
    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
    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
    Q9UNA4
    Related
    ENSP00000462664.1, ENST00000579534.5
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011525797.1XP_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_005258192.4XP_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_024451081.1XP_024306849.1  DNA polymerase iota isoform X1

    Related
    ENSP00000217800.6, ENST00000217800.9
    Conserved Domains (1) summary
    cl25410
    Location:1334
    PolY; Y-family of DNA polymerases
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