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

Gene ID: 5980, updated on 9-Dec-2018

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
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

Genomic context

See REV3L in Genome Data Viewer
Location:
6q21
Exon count:
41
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT 3'-5' exonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
 
zeta DNA polymerase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
zeta DNA polymerase complex IDA
Inferred from Direct Assay
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_002903.3
XP_011534330.1
XP_011534331.1
XP_011534332.1
XP_011534333.1
XP_011534334.1
XP_011534338.1
XP_016866641.1
XP_016866642.1
XP_016866643.1
XP_016866644.1

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.

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
    ENSP00000402003.1, 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_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
    ENSP00000351697.3, 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 ...
    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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011536028.2XP_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_011536030.3XP_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_017011154.1XP_016866643.1  DNA polymerase zeta catalytic subunit isoform X5

  4. 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)
  5. XM_017011153.1XP_016866642.1  DNA polymerase zeta catalytic subunit isoform X5

  6. XM_011536029.3XP_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)
  7. XM_017011152.2XP_016866641.1  DNA polymerase zeta catalytic subunit isoform X5

  8. XM_011536031.3XP_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)
  9. XM_011536036.3XP_011534338.1  DNA polymerase zeta catalytic subunit isoform X6

    Conserved Domains (1) summary
    pfam15735
    Location:7481134
    DUF4683; Domain of unknown function (DUF4683)
  10. XM_017011155.2XP_016866644.1  DNA polymerase zeta catalytic subunit isoform X7

RNA

  1. XR_001743556.2 RNA Sequence

  2. XR_002956293.1 RNA Sequence

  3. XR_001743555.2 RNA Sequence

    Related
    ENST00000422377.5
  4. XR_001743550.2 RNA Sequence

  5. XR_001743553.2 RNA Sequence

  6. XR_001743552.2 RNA Sequence

  7. XR_001743554.2 RNA Sequence

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