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Aliases for REV1 Gene

Aliases for REV1 Gene

  • REV1, DNA Directed Polymerase 2 3 5
  • Rev1-Like Terminal Deoxycytidyl Transferase 3 4
  • Alpha Integrin-Binding Protein 80 3 4
  • REV1, Polymerase (DNA Directed) 2 3
  • AIBP80 3 4
  • REV1L 3 4
  • REV1 Homolog (S. Cerevisiae) 2
  • REV1 (Yeast Homolog)- Like 2
  • DNA Repair Protein REV1 3
  • REV1-Like (Yeast) 2
  • REV1 Homolog 3
  • REV1- Like 3
  • EC 2.7.7.- 4

External Ids for REV1 Gene

Previous HGNC Symbols for REV1 Gene

  • REV1L

Previous GeneCards Identifiers for REV1 Gene

  • GC02M100016
  • GC02M093782

Summaries for REV1 Gene

Entrez Gene Summary for REV1 Gene

  • This gene encodes a protein with similarity to the S. cerevisiae mutagenesis protein Rev1. The Rev1 proteins contain a BRCT domain, which is important in protein-protein interactions. A suggested role for the human Rev1-like protein is as a scaffold that recruits DNA polymerases involved in translesion synthesis (TLS) of damaged DNA. [provided by RefSeq, Mar 2016]

GeneCards Summary for REV1 Gene

REV1 (REV1, DNA Directed Polymerase) is a Protein Coding gene. Diseases associated with REV1 include Leber Congenital Amaurosis 2 and Primary Bacterial Infectious Disease. Among its related pathways are Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template and Fanconi anemia pathway. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and DNA-directed DNA polymerase activity. An important paralog of this gene is POLK.

UniProtKB/Swiss-Prot for REV1 Gene

  • Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3-end of a DNA primer in a template-dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents.

Gene Wiki entry for REV1 Gene

Additional gene information for REV1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REV1 Gene

Genomics for REV1 Gene

GeneHancer (GH) Regulatory Elements for REV1 Gene

Promoters and enhancers for REV1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I099487 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 558 +0.5 529 3.4 PKNOX1 CLOCK MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 REV1 TSGA10 LYG1 ENSG00000273306
GH02I098908 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 45.2 +580.7 580690 2.1 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 ZNF48 ZNF202 NFYC MXD4 LOC550644 REV1 ENSG00000273306 UNC50 MITD1 LIPT1 TMEM131 KIAA1211L RNU7-46P
GH02I099179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 24.9 +308.5 308499 3.4 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MITD1 MRPL30 TSGA10 UNC50 REV1 LIPT1 ENSG00000273306 LOC550644 ENSG00000241962 LYG1
GH02I099877 Enhancer 1.9 UCNEbase FANTOM5 Ensembl ENCODE dbSUPER 23.2 -390.9 -390901 6 PKNOX1 RFX5 ZNF121 ZSCAN5C FOS RUNX3 EGR2 ZNF202 ZNF398 TSHZ1 GC02P099881 LOC550644 ENSG00000273306 REV1 LIPT1 MITD1 AFF3 LYG1 LOC105373504
GH02I100287 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.2 -801.1 -801079 7.1 HDGF PKNOX1 SMAD1 ARNT NEUROD1 SIN3A ZNF766 CBX5 FOS ZNF263 LONRF2 REV1 ENSG00000273306 CHST10 LINC01104
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around REV1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the REV1 gene promoter:

Genomic Locations for REV1 Gene

Genomic Locations for REV1 Gene
chr2:99,400,475-99,490,035
(GRCh38/hg38)
Size:
89,561 bases
Orientation:
Minus strand
chr2:100,016,938-100,106,497
(GRCh37/hg19)

Genomic View for REV1 Gene

Genes around REV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REV1 Gene

Proteins for REV1 Gene

  • Protein details for REV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBZ9-REV1_HUMAN
    Recommended name:
    DNA repair protein REV1
    Protein Accession:
    Q9UBZ9
    Secondary Accessions:
    • O95941
    • Q53SI7
    • Q9C0J4
    • Q9NUP2

    Protein attributes for REV1 Gene

    Size:
    1251 amino acids
    Molecular mass:
    138248 Da
    Quaternary structure:
    • Monomer. Interacts with the DNA polymerase zeta which is composed of REV3L and MAD2L2; the interaction with MAD2L2 is direct and requires that REV3L is in its closed conformation. Interacts with POLH, POLI and POLK. May bind ITGA3. Interacts with FAAP20/C1orf86.
    SequenceCaution:
    • Sequence=AAK43708.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for REV1 Gene

    Alternative splice isoforms for REV1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REV1 Gene

Post-translational modifications for REV1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for REV1 Gene

Domains & Families for REV1 Gene

Gene Families for REV1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for REV1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UBZ9

UniProtKB/Swiss-Prot:

REV1_HUMAN :
  • The C-terminal domain is necessary for protein interactions.
  • Belongs to the DNA polymerase type-Y family.
Domain:
  • The C-terminal domain is necessary for protein interactions.
Family:
  • Belongs to the DNA polymerase type-Y family.
genes like me logo Genes that share domains with REV1: view

Function for REV1 Gene

Molecular function for REV1 Gene

UniProtKB/Swiss-Prot Function:
Deoxycytidyl transferase involved in DNA repair. Transfers a dCMP residue from dCTP to the 3-end of a DNA primer in a template-dependent reaction. May assist in the first step in the bypass of abasic lesions by the insertion of a nucleotide opposite the lesion. Required for normal induction of mutations by physical and chemical agents.

Enzyme Numbers (IUBMB) for REV1 Gene

Phenotypes From GWAS Catalog for REV1 Gene

Gene Ontology (GO) - Molecular Function for REV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 damaged DNA binding IEA --
GO:0005515 protein binding IPI 11485998
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
GO:0017125 deoxycytidyl transferase activity IEA,TAS --
genes like me logo Genes that share ontologies with REV1: view
genes like me logo Genes that share phenotypes with REV1: view

Animal Models for REV1 Gene

MGI Knock Outs for REV1:

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for REV1 Gene

Localization for REV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for REV1 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 REV1 gene
Compartment Confidence
nucleus 5
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for REV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with REV1: view

Pathways & Interactions for REV1 Gene

genes like me logo Genes that share pathways with REV1: view

Pathways by source for REV1 Gene

Gene Ontology (GO) - Biological Process for REV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006260 DNA replication TAS 10536157
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0009411 response to UV IDA 11485998
GO:0019985 translesion synthesis TAS --
genes like me logo Genes that share ontologies with REV1: view

No data available for SIGNOR curated interactions for REV1 Gene

Drugs & Compounds for REV1 Gene

(2) Drugs for REV1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 2906
genes like me logo Genes that share compounds with REV1: view

Transcripts for REV1 Gene

Unigene Clusters for REV1 Gene

REV1, polymerase (DNA directed):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for REV1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c · 16d ^ 17a · 17b ^ 18 ^
SP1: - - -
SP2:
SP3: - - -
SP4:
SP5: -
SP6: - - - - - - - - -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 19 ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24a · 24b
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6: - - - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for REV1 Gene

GeneLoc Exon Structure for
REV1
ECgene alternative splicing isoforms for
REV1

Expression for REV1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for REV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for REV1 Gene

This gene is overexpressed in Liver, secretome (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for REV1 Gene



Protein tissue co-expression partners for REV1 Gene

NURSA nuclear receptor signaling pathways regulating expression of REV1 Gene:

REV1

SOURCE GeneReport for Unigene cluster for REV1 Gene:

Hs.443077

mRNA Expression by UniProt/SwissProt for REV1 Gene:

Q9UBZ9-REV1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for REV1 Gene

  • Blood(4.3)
  • Nervous system(4.3)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with REV1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for REV1 Gene

Orthologs for REV1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for REV1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REV1 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia REV1 33 34
  • 90.79 (n)
mouse
(Mus musculus)
Mammalia Rev1 33 16 34
  • 85.6 (n)
rat
(Rattus norvegicus)
Mammalia Rev1 33
  • 84.67 (n)
oppossum
(Monodelphis domestica)
Mammalia REV1 34
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia REV1 33 34
  • 81.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia REV1 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves REV1 33 34
  • 78.52 (n)
lizard
(Anolis carolinensis)
Reptilia REV1 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rev1 33
  • 67.81 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32799 33
zebrafish
(Danio rerio)
Actinopterygii rev1 33 34
  • 58.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rev1 33 34
  • 50.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005939 33
  • 47.55 (n)
worm
(Caenorhabditis elegans)
Secernentea rev-1 34
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV1 34 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToOne
Species where no ortholog for REV1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 (Oryza sativa)
  • 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 REV1 Gene

ENSEMBL:
Gene Tree for REV1 (if available)
TreeFam:
Gene Tree for REV1 (if available)

Paralogs for REV1 Gene

Paralogs for REV1 Gene

Pseudogenes.org Pseudogenes for REV1 Gene

genes like me logo Genes that share paralogs with REV1: view

Variants for REV1 Gene

Sequence variations from dbSNP and Humsavar for REV1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000025189 -- 99,473,867(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000030994 -- 99,434,539(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000075241 -- 99,491,132(-) A/G upstream_transcript_variant
rs1000107181 -- 99,480,539(-) A/C/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000127959 -- 99,451,028(-) T/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for REV1 Gene

Variant ID Type Subtype PubMed ID
nsv829582 CNV gain+loss 20364138
nsv829580 CNV loss 20364138
nsv821279 CNV deletion 20802225
nsv582525 CNV loss 21841781
nsv582524 CNV loss 21841781
nsv524466 CNV loss 19592680
nsv511799 CNV loss 21212237
nsv1150605 CNV deletion 26484159
nsv1143947 CNV deletion 24896259
nsv1072958 CNV deletion 25765185
nsv1072957 CNV deletion 25765185
esv4405 CNV loss 18987735
esv3591737 CNV loss 21293372
esv3559839 CNV deletion 23714750
esv33974 CNV gain+loss 17666407
esv27651 CNV gain+loss 19812545
esv2720432 CNV deletion 23290073
esv2658486 CNV deletion 23128226
esv2555492 CNV deletion 19546169
esv2052109 CNV deletion 18987734
dgv84e180 CNV gain 20482838
dgv6976n54 CNV loss 21841781
dgv4032n100 CNV gain 25217958
dgv1977n106 CNV deletion 24896259

Variation tolerance for REV1 Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.20; 87.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for REV1 Gene

Human Gene Mutation Database (HGMD)
REV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
REV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REV1 Gene

Disorders for REV1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for REV1 Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search REV1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for REV1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with REV1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for REV1 Gene

Publications for REV1 Gene

  1. The human REV1 gene codes for a DNA template-dependent dCMP transferase. (PMID: 10536157) Lin W … Wang Z (Nucleic acids research 1999) 2 3 4 22 58
  2. 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 (The Journal of biological chemistry 2010) 3 4 22 58
  3. Structure and enzymatic properties of a stable complex of the human REV1 and REV7 proteins. (PMID: 12529368) Masuda Y … Kamiya K (The Journal of biological chemistry 2003) 3 4 22 58
  4. Interactions in the error-prone postreplication repair proteins hREV1, hREV3, and hREV7. (PMID: 11485998) Murakumo Y … Takahashi M (The Journal of biological chemistry 2001) 3 4 22 58
  5. Deoxycytidyl transferase activity of the human REV1 protein is closely associated with the conserved polymerase domain. (PMID: 11278384) Masuda Y … Kamiya K (The Journal of biological chemistry 2001) 3 4 22 58

Products for REV1 Gene

Sources for REV1 Gene

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