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] See more...

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
  • DNA Repair Protein REV1 3 4
  • AIBP80 3 4
  • REV1L 3 4
  • REV1 Homolog (S. Cerevisiae) 2
  • REV1 (Yeast Homolog)- Like 2
  • 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 Xeroderma Pigmentosum, Variant Type and Epididymis 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 Summary 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 , Rfam classification and piRNA Summary for REV1 Gene

Genomics for REV1 Gene

GeneHancer (GH) Regulatory Elements for REV1 Gene

Promoters and enhancers for REV1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around REV1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for REV1

Top Transcription factor binding sites by QIAGEN in the REV1 gene promoter:
  • Arnt
  • C/EBPalpha
  • C/EBPbeta
  • Cart-1
  • ER-alpha
  • FOXF2
  • HOXA5
  • IRF-7A
  • Pbx1a
  • Zic3

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)
Size:
89,560 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for REV1 Gene

Suggested Antigen Peptide Sequences for REV1 Gene

GenScript: Design optimal peptide antigens:
  • REV1 homolog (S. cerevisiae) (A1L461_HUMAN)
  • REV1 protein (Q49AI5_HUMAN)
  • Rev1-like terminal deoxycytidyl transferase (REV1_HUMAN)

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:0003887 DNA-directed DNA polymerase activity IBA 21873635
GO:0005515 protein binding IPI 11485998
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
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 3
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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 3311
genes like me logo Genes that share compounds with REV1: view

Transcripts for REV1 Gene

mRNA/cDNA for REV1 Gene

7 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for REV1 Gene

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



Protein tissue co-expression partners for REV1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.49 (n)
OneToOne
dog
(Canis familiaris)
Mammalia REV1 31 30
  • 90.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rev1 17 31 30
  • 85.6 (n)
rat
(Rattus norvegicus)
Mammalia Rev1 30
  • 84.67 (n)
oppossum
(Monodelphis domestica)
Mammalia REV1 31
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia REV1 31 30
  • 81.61 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia REV1 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves REV1 31 30
  • 78.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia REV1 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rev1 30
  • 67.81 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32799 30
zebrafish
(Danio rerio)
Actinopterygii rev1 31 30
  • 58.3 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rev1 31 30
  • 50.68 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005939 30
  • 47.55 (n)
worm
(Caenorhabditis elegans)
Secernentea rev-1 31
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes REV1 33 31
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for REV1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for REV1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
708522 Benign: not provided 99,404,456(-) T/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
740480 Likely Benign: not provided 99,439,034(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
779405 Benign: not provided 99,402,793(-) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs28382882 - p.Asn306Asp
rs28382941 - p.Asp700Asn

Additional dbSNP identifiers (rs#s) for REV1 Gene

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

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

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for REV1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for REV1 Gene - From: DISEASES and GeneCards

- 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 23 54
  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 23 54
  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 23 54
  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 23 54
  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 23 54

Products for REV1 Gene

Sources for REV1 Gene