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Aliases for REV3L Gene

Aliases for REV3L Gene

  • REV3 Like, DNA Directed Polymerase Zeta Catalytic Subunit 2 3 5
  • REV3-Like, Polymerase (DNA Directed), Zeta, Catalytic Subunit 2 3
  • EC 2.7.7.7 4 61
  • POLZ 3 4
  • REV3 3 4
  • REV3 (Yeast Homolog)-Like, Catalytic Subunit Of DNA Polymerase Zeta 2
  • REV3-Like, Catalytic Subunit Of DNA Polymerase Zeta (Yeast) 2
  • Rev-3, Yeast, Homolog-Like (Polymerase, DNA, Zeta) 3
  • DNA Polymerase Zeta Catalytic Subunit 3
  • Protein Reversionless 3-Like 4
  • Polymerase, DNA, Zeta 2
  • REV3-Like 4
  • EC 2.7.7 61
  • HREV3 4

External Ids for REV3L Gene

Previous GeneCards Identifiers for REV3L Gene

  • GC06M111455
  • GC06M111643
  • GC06M111665
  • GC06M111726
  • GC06M109191

Summaries for REV3L Gene

Entrez Gene Summary for REV3L Gene

  • 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]

GeneCards Summary for REV3L Gene

REV3L (REV3 Like, DNA Directed Polymerase Zeta Catalytic Subunit) is a Protein Coding gene. Diseases associated with REV3L include Moebius Syndrome and Poland Syndrome. Among its related pathways are Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template and Platinum drug resistance. GO annotations related to this gene include nucleic acid binding and 4 iron, 4 sulfur cluster binding. An important paralog of this gene is KIAA2022.

UniProtKB/Swiss-Prot for REV3L Gene

  • Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3-5 exonuclease activity and thus has no proofreading function.

Gene Wiki entry for REV3L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REV3L Gene

Genomics for REV3L Gene

Regulatory Elements for REV3L Gene

Enhancers for REV3L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G111550 2.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 20 -69.7 -69744 5.9 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 FEZF1 ZNF2 YY1 ZNF143 ENSG00000255389 REV3L TRAF3IP2 TRAF3IP2-AS1 MFSD4B GC06M111521 GC06M111495
GH06G111563 1.8 FANTOM5 Ensembl ENCODE dbSUPER 21.7 -82.7 -82670 6.3 PKNOX1 SIN3A FEZF1 ZNF2 ZNF416 FOS REST ZNF662 ZNF610 SMARCA4 MFSD4B ENSG00000220506 ENSG00000255389 TRAF3IP2 REV3L BRD7P4 FCF1P5 TRAF3IP2-AS1 CNN2P9 GC06M111521
GH06G111572 1.5 Ensembl ENCODE dbSUPER 20.9 -90.7 -90706 4.8 MLX ARID4B FEZF1 DMAP1 ZNF48 GATA2 ZNF143 FOS ZHX2 NFYC ENSG00000255389 TRAF3IP2 REV3L TRAF3IP2-AS1 TUBE1 MFSD4B GC06P111586 GC06M111521
GH06G111558 1.2 Ensembl ENCODE dbSUPER 20.4 -76.1 -76096 2.2 PKNOX1 MAX RAD21 YY1 ZNF121 CBX5 SCRT2 HNF4G ZNF600 SCRT1 REV3L ENSG00000255389 TRAF3IP2 TRAF3IP2-AS1 GC06M111521 GC06P111586
GH06G111461 1.2 Ensembl ENCODE 20.2 +20.8 20847 2.1 ELF3 FOXA2 INSM2 BMI1 RAD21 RARA RFX5 YY1 ZNF766 GATA2 REV3L TRAF3IP2-AS1 MFSD4B TRAF3IP2 ENSG00000255389 ENSG00000230177 GC06P111430
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around REV3L on UCSC Golden Path with GeneCards custom track

Promoters for REV3L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000201152 714 4000 CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3

Genomic Location for REV3L Gene

Chromosome:
6
Start:
111,299,028 bp from pter
End:
111,483,715 bp from pter
Size:
184,688 bases
Orientation:
Minus strand

Genomic View for REV3L Gene

Genes around REV3L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REV3L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REV3L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REV3L Gene

Proteins for REV3L Gene

  • Protein details for REV3L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60673-REV3L_HUMAN
    Recommended name:
    DNA polymerase zeta catalytic subunit
    Protein Accession:
    O60673
    Secondary Accessions:
    • O43214
    • Q5TC33

    Protein attributes for REV3L Gene

    Size:
    3130 amino acids
    Molecular mass:
    352776 Da
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Heterodimer with MAD2L2. This dimer forms the minimal DNA polymerase zeta complex (Pol-zeta2), with REV3L bearing DNA polymerase catalytic activity, although its activity is very low in this context. Component of the tetrameric Pol-zeta complex (Pol-zeta4), which consists of REV3L, MAD2L2, POLD2 and POLD3; Pol-zeta4 is the fully active form of DNA polymerase zeta.

    Three dimensional structures from OCA and Proteopedia for REV3L Gene

    Alternative splice isoforms for REV3L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REV3L Gene

Selected DME Specific Peptides for REV3L Gene

O60673:
  • KGIETVRRD
  • ARVVYGD

Post-translational modifications for REV3L Gene

  • Ubiquitination at isoforms=22508
  • Modification sites at PhosphoSitePlus

Domains & Families for REV3L Gene

Gene Families for REV3L Gene

Graphical View of Domain Structure for InterPro Entry

O60673

UniProtKB/Swiss-Prot:

REV3L_HUMAN :
  • 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.
  • Belongs to the DNA polymerase type-B family.
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.
  • The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes.
Family:
  • Belongs to the DNA polymerase type-B family.
genes like me logo Genes that share domains with REV3L: view

Function for REV3L Gene

Molecular function for REV3L Gene

GENATLAS Biochemistry:
DNA polymerase,zeta,>10kDa,catalytic subunit,S cerevisiae REV3 homolog,involved in reduction of DNA damage,tissue-specific
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=5.71 uM for dATP (for Pol-zeta2); KM=1.17 uM for dATP (for Pol-zeta4); Note=kcat is 0.31 min(-1) for DNA synthesis by Pol-zeta4. kcat is 0.05 min(-1) for DNA synthesis by Pol-zeta2. {ECO:0000269 PubMed:24449906};
UniProtKB/Swiss-Prot CatalyticActivity:
Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).
UniProtKB/Swiss-Prot Function:
Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3-5 exonuclease activity and thus has no proofreading function.

Enzyme Numbers (IUBMB) for REV3L Gene

Gene Ontology (GO) - Molecular Function for REV3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity TAS,IEA --
GO:0005515 protein binding IPI 22828282
genes like me logo Genes that share ontologies with REV3L: view
genes like me logo Genes that share phenotypes with REV3L: view

Human Phenotype Ontology for REV3L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for REV3L Gene

MGI Knock Outs for REV3L:

Animal Model Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for REV3L Gene

Localization for REV3L Gene

Subcellular locations from UniProtKB/Swiss-Prot for REV3L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for REV3L gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for REV3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IBA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0016035 zeta DNA polymerase complex IDA 20164194
genes like me logo Genes that share ontologies with REV3L: view

Pathways & Interactions for REV3L Gene

genes like me logo Genes that share pathways with REV3L: view

Gene Ontology (GO) - Biological Process for REV3L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication IEA --
GO:0006261 DNA-dependent DNA replication TAS 9618506
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0042276 error-prone translesion synthesis TAS --
genes like me logo Genes that share ontologies with REV3L: view

No data available for SIGNOR curated interactions for REV3L Gene

Drugs & Compounds for REV3L Gene

(8) Drugs for REV3L Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2770
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1342
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 1856
Phosphoric acid Approved Pharma 0
dctp Experimental Pharma 0

(2) Additional Compounds for REV3L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Thymidine 5'-triphosphate
  • 2'-Deoxythymidine 5'-triphosphate
  • 2'-Deoxythymidine triphosphate
  • 5'-TTP
  • 5-Methyl-dUTP
  • Deoxy-TTP
365-08-2
genes like me logo Genes that share compounds with REV3L: view

Transcripts for REV3L Gene

Unigene Clusters for REV3L Gene

REV3-like, polymerase (DNA directed), zeta, catalytic subunit:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for REV3L Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^
SP1:
SP2: - - - -
SP3: - -
SP4:
SP5: - -
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35
SP1: -
SP2:
SP3: -
SP4: -
SP5:
SP6: -
SP7: -
SP8: -
SP9: -
SP10:
SP11:
SP12:

Relevant External Links for REV3L Gene

GeneLoc Exon Structure for
REV3L
ECgene alternative splicing isoforms for
REV3L

Expression for REV3L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for REV3L Gene

Protein differential expression in normal tissues from HIPED for REV3L Gene

This gene is overexpressed in Breast (25.6), Bone marrow mesenchymal stem cell (16.5), and Plasma (14.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for REV3L Gene



NURSA nuclear receptor signaling pathways regulating expression of REV3L Gene:

REV3L

SOURCE GeneReport for Unigene cluster for REV3L Gene:

Hs.232021

mRNA Expression by UniProt/SwissProt for REV3L Gene:

O60673-REV3L_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for REV3L Gene

  • Nervous system(4.4)
  • Blood(4.2)
  • Bone marrow(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for REV3L Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • pituitary gland
  • skull
  • vocal cord
Thorax:
  • breast
  • chest wall
  • esophagus
  • lung
Abdomen:
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with REV3L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for REV3L Gene

Orthologs for REV3L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for REV3L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REV3L 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia REV3L 34 35
  • 93 (n)
cow
(Bos Taurus)
Mammalia REV3L 34 35
  • 92.26 (n)
mouse
(Mus musculus)
Mammalia Rev3l 34 16 35
  • 87.48 (n)
rat
(Rattus norvegicus)
Mammalia Rev3l 34
  • 85.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia REV3L 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia REV3L 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves REV3L 34 35
  • 75.69 (n)
lizard
(Anolis carolinensis)
Reptilia REV3L 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rev3l 34
  • 65.03 (n)
zebrafish
(Danio rerio)
Actinopterygii rev3l 34 35
  • 59.69 (n)
-- 34
fruit fly
(Drosophila melanogaster)
Insecta mus205 36 35
  • 52 (a)
worm
(Caenorhabditis elegans)
Secernentea Y37B11A.2 36
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV3 35 37 37
  • 29 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.33702 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToOne
Species where no ortholog for REV3L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for REV3L Gene

ENSEMBL:
Gene Tree for REV3L (if available)
TreeFam:
Gene Tree for REV3L (if available)

Paralogs for REV3L Gene

Paralogs for REV3L Gene

genes like me logo Genes that share paralogs with REV3L: view

Variants for REV3L Gene

Sequence variations from dbSNP and Humsavar for REV3L Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1057519367 Likely pathogenic 111,405,476(-) CAAGA(A/T)GGAAA nc-transcript-variant, reference, missense
rs55717383 Likely benign 111,374,376(+) TCCTA(A/C/T)AGAAT nc-transcript-variant, reference, missense
rs1000040072 -- 111,473,644(+) AAGCA(C/G/T)TATTA intron-variant
rs1000045951 -- 111,427,834(+) AGGTC(A/G)GAGGT intron-variant
rs1000049609 -- 111,409,553(+) GACCA(C/T)ACAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for REV3L Gene

Variant ID Type Subtype PubMed ID
esv1005692 CNV deletion 20482838
esv2732576 CNV deletion 23290073
nsv1020627 CNV gain 25217958
nsv1028349 CNV gain 25217958
nsv349315 CNV deletion 16902084
nsv473547 CNV novel sequence insertion 20440878
nsv5442 CNV insertion 18451855
nsv981174 CNV duplication 23825009

Variation tolerance for REV3L Gene

Residual Variation Intolerance Score: 1.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.62; 82.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for REV3L Gene

Human Gene Mutation Database (HGMD)
REV3L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
REV3L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REV3L Gene

Disorders for REV3L Gene

MalaCards: The human disease database

(3) MalaCards diseases for REV3L Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
moebius syndrome
  • mobius syndrome
poland syndrome
  • poland sequence
retinitis pigmentosa 3
  • rp3
- elite association - COSMIC cancer census association via MalaCards
Search REV3L in MalaCards View complete list of genes associated with diseases

Relevant External Links for REV3L

Genetic Association Database (GAD)
REV3L
Human Genome Epidemiology (HuGE) Navigator
REV3L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
REV3L
genes like me logo Genes that share disorders with REV3L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for REV3L Gene

Publications for REV3L Gene

  1. A human homolog of the Saccharomyces cerevisiae REV3 gene, which encodes the catalytic subunit of DNA polymerase zeta. (PMID: 9618506) Gibbs P.E.M. … Lawrence C.W. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 22 64
  2. Alternative splicing, genomic structure, and fine chromosome localization of REV3L. (PMID: 9925914) Morelli C. … Croce C.M. (Cytogenet. Cell Genet. 1998) 2 3 4 22 64
  3. Crystal structure of human REV7 in complex with a human REV3 fragment and structural implication of the interaction between DNA polymerase zeta and REV1. (PMID: 20164194) Hara K. … Sato M. (J. Biol. Chem. 2010) 3 4 22 64
  4. A human REV7 homolog that interacts with the polymerase zeta catalytic subunit hREV3 and the spindle assembly checkpoint protein hMAD2. (PMID: 10660610) Murakumo Y. … Fishel R. (J. Biol. Chem. 2000) 3 4 22 64
  5. A full-length cDNA of hREV3 is predicted to encode DNA polymerase zeta for damage-induced mutagenesis in humans. (PMID: 10102035) Lin W. … Wang Z. (Mutat. Res. 1999) 3 4 22 64

Products for REV3L Gene

  • Addgene plasmids for REV3L

Sources for REV3L Gene

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