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

    Gene ID: 5980, updated on 17-Mar-2017
    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; Vega:OTTHUMG00000016318
    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]
    Orthologs
    Location:
    6q21
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (111299031..111483715, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (111620234..111804421, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986521 Neighboring gene major facilitator superfamily domain containing 4B Neighboring gene FCF1 pseudogene 5 Neighboring gene bromodomain containing 7 pseudogene 4 Neighboring gene TRAF3IP2 antisense RNA 1 Neighboring gene uncharacterized LOC107986520 Neighboring gene uncharacterized LOC107986522

    • 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?

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    NHGRI GWA Catalog
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Human metabolic individuality in biomedical and pharmaceutical research.
    NHGRI GWA Catalog
    • DNA Damage Bypass, organism-specific biosystem (from REACTOME)
      DNA Damage Bypass, organism-specific biosystemIn addition to various processes for removing lesions from the DNA, cells have developed specific mechanisms for tolerating unrepaired damage during the replication of the genome. These mechanisms ar...
    • 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...
    • DNA polymerase zeta complex, organism-specific biosystem (from KEGG)
      DNA polymerase zeta complex, organism-specific biosystemStructural complex; Genetic information processing; DNA polymerase
    • DNA polymerase zeta complex, conserved biosystem (from KEGG)
      DNA polymerase zeta complex, conserved biosystemStructural complex; Genetic information processing; DNA polymerase
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Platinum drug resistance, organism-specific biosystem (from KEGG)
      Platinum drug resistance, organism-specific biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Platinum drug resistance, conserved biosystem (from KEGG)
      Platinum drug resistance, conserved biosystemPlatinum-based drugs cisplatin, carboplatin and oxaliplatin are widely used in the therapy of solid malignancies, including testicular, ovarian, head and neck, colorectal, bladder and lung cancers. T...
    • Translesion synthesis by POLI, organism-specific biosystem (from REACTOME)
      Translesion synthesis by POLI, organism-specific biosystemDNA polymerase iota (POLI) is a Y family DNA polymerase with an active site that favours Hoogsteen base pairing instead of Watson-Crick base pairing. POLI-mediated Hoogsteen base pairing and rotation...
    • Translesion synthesis by POLK, organism-specific biosystem (from REACTOME)
      Translesion synthesis by POLK, organism-specific biosystemDNA polymerase kappa (POLK) is a Y family DNA polymerase that is most efficient in translesion DNA synthesis (TLS) across oxidation derivatives of DNA bases, such as thymine glycol (Tg) and 8-oxoguan...
    • Translesion synthesis by REV1, organism-specific biosystem (from REACTOME)
      Translesion synthesis by REV1, organism-specific biosystemREV1 (hREV1) encodes a template-dependent dCMP transferase that can insert a C residue opposite an abasic site (Lin et al. 1999, Gibbs et al. 2000). Interaction with monoubiquitinated PCNA at a DNA d...
    • Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystem (from REACTOME)
      Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystemUbiquitous environmental and endogenous genotoxic agents cause DNA lesions that can interfere with normal DNA metabolism including DNA replication, eventually resulting in mutations that lead to carc...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    3'-5' exonuclease activity IEA
    Inferred from Electronic Annotation
    more info
     
    4 iron, 4 sulfur cluster binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA-directed DNA polymerase activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA-dependent DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    error-prone translesion synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    error-prone translesion synthesis TAS
    Traceable Author Statement
    more info
     
    nucleic acid phosphodiester bond hydrolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    zeta DNA polymerase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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_002903.3

    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
      5001..189685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286431.1NP_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, AF078695, 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_001286432.1NP_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, ENST00000435970
      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_002912.4NP_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, AF078695, AF157476, AK310949, AL080317, AL096744, AW450927, BP340028, HX785974
      Consensus CDS
      CCDS5091.2
      UniProtKB/Swiss-Prot
      O60673
      UniProtKB/TrEMBL
      Q9UG47
      Related
      ENSP00000351697, ENST00000358835
      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 ...
      pfam00136
      Location:25583005
      DNA_pol_B; DNA polymerase family B
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      111299031..111483715 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536028.1XP_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)
    2. XM_011536030.2XP_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_011536029.2XP_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)
    4. XM_017011152.1XP_016866641.1  DNA polymerase zeta catalytic subunit isoform X5

    5. XM_011536031.2XP_011534333.1  DNA polymerase zeta catalytic subunit isoform X4

      See identical proteins and their annotated locations for XP_011534333.1

      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)
    6. XM_017011154.1XP_016866643.1  DNA polymerase zeta catalytic subunit isoform X5

    7. XM_011536032.2XP_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)
    8. XM_017011153.1XP_016866642.1  DNA polymerase zeta catalytic subunit isoform X5

    9. XM_011536036.2XP_011534338.1  DNA polymerase zeta catalytic subunit isoform X6

      Conserved Domains (1) summary
      pfam15735
      Location:7481134
      DUF4683; Domain of unknown function (DUF4683)
    10. XM_017011155.1XP_016866644.1  DNA polymerase zeta catalytic subunit isoform X7

    RNA

    1. XR_001743556.1 RNA Sequence

    2. XR_001743555.1 RNA Sequence

      Related
      ENST00000422377, OTTHUMT00000043686
    3. XR_001743550.1 RNA Sequence

    4. XR_001743553.1 RNA Sequence

    5. XR_001743552.1 RNA Sequence

    6. XR_001743554.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      111883120..112067822 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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