Human Gene REV3L (ENST00000358835.7) Description and Page Index
  Description: Homo sapiens REV3 like, DNA directed polymerase zeta catalytic subunit (REV3L), transcript variant 1, mRNA. (from RefSeq NM_002912)
RefSeq Summary (NM_002912): 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].
Gencode Transcript: ENST00000358835.7
Gencode Gene: ENSG00000009413.15
Transcript (Including UTRs)
   Position: hg38 chr6:111,299,052-111,483,715 Size: 184,664 Total Exon Count: 33 Strand: -
Coding Region
   Position: hg38 chr6:111,300,016-111,482,888 Size: 182,873 Coding Exon Count: 32 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:111,299,052-111,483,715)mRNA (may differ from genome)Protein (3130 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGImyGene2neXtProtOMIM
PubMedReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: DPOLZ_HUMAN
DESCRIPTION: RecName: Full=DNA polymerase zeta catalytic subunit; EC=2.7.7.7; AltName: Full=Protein reversionless 3-like; Short=REV3-like; Short=hREV3;
FUNCTION: Interacts with MAD2L2 to form the error prone DNA polymerase zeta involved in translesion DNA synthesis.
CATALYTIC ACTIVITY: Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
COFACTOR: Binds 1 4Fe-4S cluster (By similarity).
SUBUNIT: Interacts with MAD2L2.
SUBCELLULAR LOCATION: Nucleus (Potential).
TISSUE SPECIFICITY: Ubiquitously expressed.
DOMAIN: Its C-terminal part could serve as the catalytic domain during nucleotide polymerization, while its N-terminal part could provide sites for protein-protein interactions with other factors during translesion DNA synthesis.
DOMAIN: The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes (By similarity).
SIMILARITY: Belongs to the DNA polymerase type-B family.
SIMILARITY: Contains 1 CysA-type zinc finger.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rev3l/";

-  MalaCards Disease Associations
  MalaCards Gene Search: REV3L
Diseases sorted by gene-association score: moebius syndrome* (247), poland syndrome (11), retinitis pigmentosa 3 (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.12 RPKM in Cells - Transformed fibroblasts
Total median expression: 286.48 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -241.70458-0.528 Picture PostScript Text
3' UTR -192.50964-0.200 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006172 - DNA-dir_DNA_pol_B
IPR017964 - DNA-dir_DNA_pol_B_CS
IPR006133 - DNA-dir_DNA_pol_B_exonuc
IPR006134 - DNA-dir_DNA_pol_B_multi_dom
IPR023211 - DNA_pol_palm_dom
IPR012337 - RNaseH-like_dom
IPR025687 - Znf-C4pol

Pfam Domains:
PF00136 - DNA polymerase family B
PF03104 - DNA polymerase family B, exonuclease domain
PF14260 - C4-type zinc-finger of DNA polymerase delta

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3ABD
- X-ray MuPIT

3ABE
- X-ray MuPIT

3VU7
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O60673
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
MGIRGDEnsembl  SGD
Protein SequenceProtein Sequence   Protein Sequence
AlignmentAlignment   Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003887 DNA-directed DNA polymerase activity
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0046872 metal ion binding
GO:0051536 iron-sulfur cluster binding
GO:0051539 4 iron, 4 sulfur cluster binding

Biological Process:
GO:0006260 DNA replication
GO:0006261 DNA-dependent DNA replication
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0019985 translesion synthesis
GO:0042276 error-prone translesion synthesis

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0016035 zeta DNA polymerase complex


-  Descriptions from all associated GenBank mRNAs
  AF071798 - Homo sapiens DNA polymerase zeta catalytic subunit (REV3) mRNA, complete cds.
LF384626 - JP 2014500723-A/192129: Polycomb-Associated Non-Coding RNAs.
MA620203 - JP 2018138019-A/192129: Polycomb-Associated Non-Coding RNAs.
AF058701 - Homo sapiens DNA polymerase zeta catalytic subunit (REV3) mRNA, complete cds.
AF035537 - Homo sapiens DNA polymerase zeta (REV3) mRNA, complete cds.
AF157476 - Homo sapiens DNA polymerase zeta catalytic subunit (REV3) mRNA, complete cds.
AF179428 - Homo sapiens DNA polymerase zeta catalytic subunit variant 1 (REV3L) mRNA, complete cds.
AF179429 - Homo sapiens DNA polymerase zeta catalytic subunit variant 2 (REV3L) mRNA, complete cds.
AF078695 - Homo sapiens DNA polymerase zeta catalytic subunit (REV3L) mRNA, complete cds.
BC172423 - Synthetic construct Homo sapiens clone IMAGE:100069117, MGC:199128 REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L) mRNA, encodes complete protein.
BC035823 - Homo sapiens, Similar to REV3-like, catalytic subunit of DNA polymerase zeta RAD54 like (S. cerevisiae), clone IMAGE:5551831, mRNA, partial cds.
AK310949 - Homo sapiens cDNA, FLJ17991.
AL096744 - Homo sapiens mRNA; cDNA DKFZp566H033 (from clone DKFZp566H033).
AF004713 - Homo sapiens DNA-dependent DNA polymerase (hREV3) mRNA, partial cds.
AB209256 - Homo sapiens mRNA for REV3-like, catalytic subunit of DNA polymerase zeta variant protein.
JD356136 - Sequence 337160 from Patent EP1572962.
JD265140 - Sequence 246164 from Patent EP1572962.
JD309896 - Sequence 290920 from Patent EP1572962.
JD559224 - Sequence 540248 from Patent EP1572962.
JD429173 - Sequence 410197 from Patent EP1572962.
JD491725 - Sequence 472749 from Patent EP1572962.
LF322202 - JP 2014500723-A/129705: Polycomb-Associated Non-Coding RNAs.
MA557779 - JP 2018138019-A/129705: Polycomb-Associated Non-Coding RNAs.
LF322198 - JP 2014500723-A/129701: Polycomb-Associated Non-Coding RNAs.
MA557775 - JP 2018138019-A/129701: Polycomb-Associated Non-Coding RNAs.
LF322193 - JP 2014500723-A/129696: Polycomb-Associated Non-Coding RNAs.
MA557770 - JP 2018138019-A/129696: Polycomb-Associated Non-Coding RNAs.
LF322192 - JP 2014500723-A/129695: Polycomb-Associated Non-Coding RNAs.
MA557769 - JP 2018138019-A/129695: Polycomb-Associated Non-Coding RNAs.
LF322191 - JP 2014500723-A/129694: Polycomb-Associated Non-Coding RNAs.
MA557768 - JP 2018138019-A/129694: Polycomb-Associated Non-Coding RNAs.
LF322190 - JP 2014500723-A/129693: Polycomb-Associated Non-Coding RNAs.
MA557767 - JP 2018138019-A/129693: Polycomb-Associated Non-Coding RNAs.
LF322189 - JP 2014500723-A/129692: Polycomb-Associated Non-Coding RNAs.
MA557766 - JP 2018138019-A/129692: Polycomb-Associated Non-Coding RNAs.
LF322188 - JP 2014500723-A/129691: Polycomb-Associated Non-Coding RNAs.
MA557765 - JP 2018138019-A/129691: Polycomb-Associated Non-Coding RNAs.
LF322187 - JP 2014500723-A/129690: Polycomb-Associated Non-Coding RNAs.
MA557764 - JP 2018138019-A/129690: Polycomb-Associated Non-Coding RNAs.
LF322186 - JP 2014500723-A/129689: Polycomb-Associated Non-Coding RNAs.
MA557763 - JP 2018138019-A/129689: Polycomb-Associated Non-Coding RNAs.
LF322185 - JP 2014500723-A/129688: Polycomb-Associated Non-Coding RNAs.
MA557762 - JP 2018138019-A/129688: Polycomb-Associated Non-Coding RNAs.
LF322184 - JP 2014500723-A/129687: Polycomb-Associated Non-Coding RNAs.
MA557761 - JP 2018138019-A/129687: Polycomb-Associated Non-Coding RNAs.
LF322183 - JP 2014500723-A/129686: Polycomb-Associated Non-Coding RNAs.
MA557760 - JP 2018138019-A/129686: Polycomb-Associated Non-Coding RNAs.
LF322182 - JP 2014500723-A/129685: Polycomb-Associated Non-Coding RNAs.
MA557759 - JP 2018138019-A/129685: Polycomb-Associated Non-Coding RNAs.
AF303220 - Homo sapiens DNA polymerase zeta catalytic subunit variant (REV3) mRNA sequence.
LF322180 - JP 2014500723-A/129683: Polycomb-Associated Non-Coding RNAs.
MA557757 - JP 2018138019-A/129683: Polycomb-Associated Non-Coding RNAs.
BC038986 - Homo sapiens, clone IMAGE:5786451, mRNA.
JD391137 - Sequence 372161 from Patent EP1572962.
JD530493 - Sequence 511517 from Patent EP1572962.
JD080722 - Sequence 61746 from Patent EP1572962.
JD200774 - Sequence 181798 from Patent EP1572962.
JD127674 - Sequence 108698 from Patent EP1572962.
JD271744 - Sequence 252768 from Patent EP1572962.
JD231098 - Sequence 212122 from Patent EP1572962.
JD249032 - Sequence 230056 from Patent EP1572962.
JD495340 - Sequence 476364 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein O60673 (Reactome details) participates in the following event(s):

R-HSA-110322 Formation of Pol zeta complex
R-HSA-5652151 REV1 recruits POLZ to (AP:Cyt)-DNA Template
R-HSA-5655835 POLK forms a quaternary complex with REV1 and POLZ on damaged DNA template
R-HSA-5656105 POLI simultaneously binds REV1 and monoUb:K164-PCNA at damaged DNA
R-HSA-110311 POLZ extends translesion synthesis
R-HSA-5655965 POLK and POLZ cooperate in elongation of mispaired primer termini
R-HSA-5656158 POLZ elongates POLI-incorporated dNMP
R-HSA-5655892 POLK incorporates dNMP opposite to damaged DNA base
R-HSA-5656148 POLI incorporates dNMP opposite to damaged DNA base
R-HSA-110312 Translesion synthesis by REV1
R-HSA-5655862 Translesion synthesis by POLK
R-HSA-5656121 Translesion synthesis by POLI
R-HSA-110313 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
R-HSA-73893 DNA Damage Bypass
R-HSA-73894 DNA Repair

-  Other Names for This Gene
  Alternate Gene Symbols: DPOLZ_HUMAN, NM_002912, O43214, O60673, POLZ, Q5TC33, REV3, uc003puy.1, uc003puy.2, uc003puy.3, uc003puy.4, uc003puy.5, uc003puy.6
UCSC ID: uc003puy.6
RefSeq Accession: NM_002912
Protein: O60673 (aka DPOLZ_HUMAN)
CCDS: CCDS5091.2, CCDS69177.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.