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    REV3L REV3 like, DNA directed polymerase zeta catalytic subunit [ Homo sapiens (human) ]

    Gene ID: 5980, updated on 17-Jun-2024

    Summary

    Official Symbol
    REV3Lprovided by HGNC
    Official Full Name
    REV3 like, DNA directed polymerase zeta catalytic subunitprovided by HGNC
    Primary source
    HGNC:HGNC:9968
    See related
    Ensembl:ENSG00000009413 MIM:602776; AllianceGenome:HGNC:9968
    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
    POLZ; REV3
    Summary
    The protein encoded by this gene represents the catalytic subunit of DNA polymerase zeta, which functions in translesion DNA synthesis. The encoded protein can be found in mitochondria, where it protects DNA from damage. Defects in this gene are a cause of Mobius syndrome. [provided by RefSeq, Jan 2017]
    Expression
    Ubiquitous expression in endometrium (RPKM 7.3), testis (RPKM 3.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See REV3L in Genome Data Viewer
    Location:
    6q21
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (111299033..111483711, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (112482123..112666710, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (111620236..111804914, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24942 Neighboring gene Sharpr-MPRA regulatory region 12211 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_87657 Neighboring gene uncharacterized LOC124901376 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:111604271-111604834 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:111604835-111605396 Neighboring gene major facilitator superfamily domain containing 4B Neighboring gene FCF1 pseudogene 5 Neighboring gene MPRA-validated peak6034 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr6:111751696-111751904 Neighboring gene MPRA-validated peak6035 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24943 Neighboring gene bromodomain containing 7 pseudogene 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:111798355-111799247 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:111799845-111800569 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17475 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17476 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17478 Neighboring gene TRAF3IP2 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24947 Neighboring gene uncharacterized LOC107986520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:111828147-111828670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:111828671-111829193 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_87727 Neighboring gene uncharacterized LOC107986522

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    EBI GWAS Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    EBI GWAS Catalog

    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 4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables nucleotide 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-templated DNA replication IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in error-prone translesion synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in error-prone translesion synthesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of zeta DNA polymerase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of zeta DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of zeta DNA polymerase complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    DNA polymerase zeta catalytic subunit
    Names
    REV3-like, polymerase (DNA directed), zeta, catalytic subunit
    Rev-3, yeast, homolog-like (polymerase, DNA, zeta)
    NP_001273360.1
    NP_001273361.1
    NP_001359007.1
    NP_002903.3
    XP_011534330.1
    XP_011534331.1
    XP_011534332.1
    XP_011534334.1
    XP_011534338.1
    XP_016866644.1
    XP_047275171.1
    XP_047275172.1
    XP_047275173.1
    XP_047275174.1
    XP_047275175.1
    XP_047275176.1
    XP_054212124.1
    XP_054212125.1
    XP_054212126.1
    XP_054212127.1
    XP_054212128.1
    XP_054212129.1
    XP_054212130.1
    XP_054212131.1
    XP_054212132.1
    XP_054212133.1
    XP_054212134.1
    XP_054212135.1

    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.

    Genomic

    1. NG_053000.1 RefSeqGene

      Range
      5498..189683
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286431.2NP_001273360.1  DNA polymerase zeta catalytic subunit isoform b

      See identical proteins and their annotated locations for NP_001273360.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AF071798, AF179429, AK310949, AL080317, AL096744, AW450927, BP340028, HX785974
      Consensus CDS
      CCDS69177.1
      UniProtKB/Swiss-Prot
      O60673
      UniProtKB/TrEMBL
      Q9UG47
      Conserved Domains (5) summary
      cd05778
      Location:22162454
      DNA_polB_zeta_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase zeta, a family-B DNA polymerase
      cd05534
      Location:24802928
      POLBc_zeta; DNA polymerase type-B zeta subfamily catalytic domain. DNA polymerase (Pol) zeta is a member of the eukaryotic B-family of DNA polymerases and distantly related to DNA Pol delta. Pol zeta plays a major role in translesion replication and the production ...
      pfam00136
      Location:24802927
      DNA_pol_B; DNA polymerase family B
      pfam14260
      Location:29643031
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
      pfam15735
      Location:6691055
      DUF4683; Domain of unknown function (DUF4683)
    2. NM_001286432.2NP_001273361.1  DNA polymerase zeta catalytic subunit isoform b

      See identical proteins and their annotated locations for NP_001273361.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AF071798, AF078695, AF157476, AK310949, AL080317, AL096744, AW450927, BP340028, HX785974
      Consensus CDS
      CCDS69177.1
      UniProtKB/Swiss-Prot
      O60673
      UniProtKB/TrEMBL
      Q9UG47
      Related
      ENSP00000402003.1, ENST00000435970.5
      Conserved Domains (5) summary
      cd05778
      Location:22162454
      DNA_polB_zeta_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase zeta, a family-B DNA polymerase
      cd05534
      Location:24802928
      POLBc_zeta; DNA polymerase type-B zeta subfamily catalytic domain. DNA polymerase (Pol) zeta is a member of the eukaryotic B-family of DNA polymerases and distantly related to DNA Pol delta. Pol zeta plays a major role in translesion replication and the production ...
      pfam00136
      Location:24802927
      DNA_pol_B; DNA polymerase family B
      pfam14260
      Location:29643031
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
      pfam15735
      Location:6691055
      DUF4683; Domain of unknown function (DUF4683)
    3. NM_001372078.1NP_001359007.1  DNA polymerase zeta catalytic subunit isoform a

      Status: REVIEWED

      Source sequence(s)
      AL080317, AL136310, AL512325
      Consensus CDS
      CCDS5091.2
      UniProtKB/Swiss-Prot
      O43214, O60673, Q5TC33
      Related
      ENSP00000357792.3, ENST00000368802.8
      Conserved Domains (5) summary
      cd05778
      Location:22942532
      DNA_polB_zeta_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase zeta, a family-B DNA polymerase
      cd05534
      Location:25583006
      POLBc_zeta; DNA polymerase type-B zeta subfamily catalytic domain. DNA polymerase (Pol) zeta is a member of the eukaryotic B-family of DNA polymerases and distantly related to DNA Pol delta. Pol zeta plays a major role in translesion replication and the production ...
      PTZ00166
      Location:41195
      PTZ00166; DNA polymerase delta catalytic subunit; Provisional
      pfam14260
      Location:30423109
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
      pfam15735
      Location:7471133
      DUF4683; Domain of unknown function (DUF4683)
    4. NM_002912.5NP_002903.3  DNA polymerase zeta catalytic subunit isoform a

      See identical proteins and their annotated locations for NP_002903.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AF071798, AF157476, AK310949, AL080317, AL096744, AW450927, BP340028, HX785974
      Consensus CDS
      CCDS5091.2
      UniProtKB/Swiss-Prot
      O43214, O60673, Q5TC33
      Related
      ENSP00000351697.3, ENST00000358835.7
      Conserved Domains (5) summary
      cd05778
      Location:22942532
      DNA_polB_zeta_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase zeta, a family-B DNA polymerase
      cd05534
      Location:25583006
      POLBc_zeta; DNA polymerase type-B zeta subfamily catalytic domain. DNA polymerase (Pol) zeta is a member of the eukaryotic B-family of DNA polymerases and distantly related to DNA Pol delta. Pol zeta plays a major role in translesion replication and the production ...
      PTZ00166
      Location:41195
      PTZ00166; DNA polymerase delta catalytic subunit; Provisional
      pfam14260
      Location:30423109
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
      pfam15735
      Location:7471133
      DUF4683; Domain of unknown function (DUF4683)

    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

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      111299033..111483711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536029.4XP_011534331.1  DNA polymerase zeta catalytic subunit isoform X2

      Conserved Domains (6) summary
      cd05778
      Location:22942558
      DNA_polB_zeta_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase zeta, a family-B DNA polymerase
      cd05534
      Location:25843032
      POLBc_zeta; DNA polymerase type-B zeta subfamily catalytic domain. DNA polymerase (Pol) zeta is a member of the eukaryotic B-family of DNA polymerases and distantly related to DNA Pol delta. Pol zeta plays a major role in translesion replication and the production ...
      smart00486
      Location:23162817
      POLBc; DNA polymerase type-B family
      pfam00136
      Location:25843031
      DNA_pol_B; DNA polymerase family B
      pfam14260
      Location:30683135
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
      pfam15735
      Location:7471133
      DUF4683; Domain of unknown function (DUF4683)
    2. XM_011536030.4XP_011534332.1  DNA polymerase zeta catalytic subunit isoform X3

      Conserved Domains (5) summary
      cd05778
      Location:22952533
      DNA_polB_zeta_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase zeta, a family-B DNA polymerase
      cd05534
      Location:25593007
      POLBc_zeta; DNA polymerase type-B zeta subfamily catalytic domain. DNA polymerase (Pol) zeta is a member of the eukaryotic B-family of DNA polymerases and distantly related to DNA Pol delta. Pol zeta plays a major role in translesion replication and the production ...
      pfam00136
      Location:25593006
      DNA_pol_B; DNA polymerase family B
      pfam14260
      Location:30433110
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
      pfam15735
      Location:7481134
      DUF4683; Domain of unknown function (DUF4683)
    3. XM_011536028.3XP_011534330.1  DNA polymerase zeta catalytic subunit isoform X1

      Conserved Domains (6) summary
      cd05778
      Location:22952559
      DNA_polB_zeta_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase zeta, a family-B DNA polymerase
      cd05534
      Location:25853033
      POLBc_zeta; DNA polymerase type-B zeta subfamily catalytic domain. DNA polymerase (Pol) zeta is a member of the eukaryotic B-family of DNA polymerases and distantly related to DNA Pol delta. Pol zeta plays a major role in translesion replication and the production ...
      smart00486
      Location:23172818
      POLBc; DNA polymerase type-B family
      pfam00136
      Location:25853032
      DNA_pol_B; DNA polymerase family B
      pfam14260
      Location:30693136
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
      pfam15735
      Location:7481134
      DUF4683; Domain of unknown function (DUF4683)
    4. XM_011536032.3XP_011534334.1  DNA polymerase zeta catalytic subunit isoform X4

      See identical proteins and their annotated locations for XP_011534334.1

      Conserved Domains (6) summary
      cd05778
      Location:22172481
      DNA_polB_zeta_exo; inactive DEDDy 3'-5' exonuclease domain of eukaryotic DNA polymerase zeta, a family-B DNA polymerase
      cd05534
      Location:25072955
      POLBc_zeta; DNA polymerase type-B zeta subfamily catalytic domain. DNA polymerase (Pol) zeta is a member of the eukaryotic B-family of DNA polymerases and distantly related to DNA Pol delta. Pol zeta plays a major role in translesion replication and the production ...
      smart00486
      Location:22392740
      POLBc; DNA polymerase type-B family
      pfam00136
      Location:25072954
      DNA_pol_B; DNA polymerase family B
      pfam14260
      Location:29913058
      zf-C4pol; C4-type zinc-finger of DNA polymerase delta
      pfam15735
      Location:6701056
      DUF4683; Domain of unknown function (DUF4683)
    5. XM_047419216.1XP_047275172.1  DNA polymerase zeta catalytic subunit isoform X6

    6. XM_047419215.1XP_047275171.1  DNA polymerase zeta catalytic subunit isoform X5

    7. XM_047419219.1XP_047275175.1  DNA polymerase zeta catalytic subunit isoform X9

    8. XM_047419217.1XP_047275173.1  DNA polymerase zeta catalytic subunit isoform X7

    9. XM_047419218.1XP_047275174.1  DNA polymerase zeta catalytic subunit isoform X8

    10. XM_047419220.1XP_047275176.1  DNA polymerase zeta catalytic subunit isoform X10

    11. XM_011536036.4XP_011534338.1  DNA polymerase zeta catalytic subunit isoform X10

      Conserved Domains (1) summary
      pfam15735
      Location:7481134
      DUF4683; Domain of unknown function (DUF4683)
    12. XM_017011155.3XP_016866644.1  DNA polymerase zeta catalytic subunit isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      112482123..112666710 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356150.1XP_054212125.1  DNA polymerase zeta catalytic subunit isoform X2

    2. XM_054356151.1XP_054212126.1  DNA polymerase zeta catalytic subunit isoform X3

    3. XM_054356149.1XP_054212124.1  DNA polymerase zeta catalytic subunit isoform X1

    4. XM_054356152.1XP_054212127.1  DNA polymerase zeta catalytic subunit isoform X4

    5. XM_054356154.1XP_054212129.1  DNA polymerase zeta catalytic subunit isoform X6

    6. XM_054356153.1XP_054212128.1  DNA polymerase zeta catalytic subunit isoform X5

    7. XM_054356157.1XP_054212132.1  DNA polymerase zeta catalytic subunit isoform X9

    8. XM_054356155.1XP_054212130.1  DNA polymerase zeta catalytic subunit isoform X7

    9. XM_054356156.1XP_054212131.1  DNA polymerase zeta catalytic subunit isoform X8

    10. XM_054356158.1XP_054212133.1  DNA polymerase zeta catalytic subunit isoform X10

    11. XM_054356159.1XP_054212134.1  DNA polymerase zeta catalytic subunit isoform X10

    12. XM_054356160.1XP_054212135.1  DNA polymerase zeta catalytic subunit isoform X11