Human Gene REV1 (uc002tad.3) Description and Page Index
  Description: Homo sapiens REV1, polymerase (DNA directed) (REV1), transcript variant 1, mRNA.
RefSeq Summary (NM_016316): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:100,016,938-100,106,480 Size: 89,543 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr2:100,017,704-100,081,437 Size: 63,734 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:100,016,938-100,106,480)mRNA (may differ from genome)Protein (1251 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: REV1_HUMAN
DESCRIPTION: RecName: Full=DNA repair protein REV1; EC=2.7.7.-; AltName: Full=Alpha integrin-binding protein 80; Short=AIBP80; AltName: Full=Rev1-like terminal deoxycytidyl transferase;
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.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Nucleus (Probable).
TISSUE SPECIFICITY: Ubiquitous.
DOMAIN: The C-terminal domain is necessary for protein interactions.
SIMILARITY: Belongs to the DNA polymerase type-Y family.
SIMILARITY: Contains 1 BRCT domain.
SIMILARITY: Contains 1 umuC domain.
SEQUENCE CAUTION: Sequence=AAK43708.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): REV1
CDC HuGE Published Literature: REV1
Positive Disease Associations: Cholesterol , Cholesterol, LDL , lung cancer
Related Studies:
  1. Cholesterol
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Cholesterol, LDL
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  3. lung cancer
    R P Young , et al. Postgraduate medical journal 2009 85(1008):515-24, A gene-based risk score for lung cancer susceptibility in smokers and ex-smokers., Postgraduate medical journal 2009 85(1008):515-24. [PubMed 19789190]
    When numeric scores were assigned to both the SNP and demographic data, and sequentially combined by a simple algorithm in a risk model, the composite score was found to be linearly related to lung cancer risk with a bimodal distribution.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: REV1
Diseases sorted by gene-association score: leber congenital amaurosis 2 (5), primary bacterial infectious disease (1), fanconi anemia, complementation group a (1)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.63 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 486.94 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 -123.50212-0.583 Picture PostScript Text
3' UTR -184.80766-0.241 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
IPR001357 - BRCT_dom
IPR017961 - DNA_pol_Y-fam_little_finger
IPR001126 - DNA_repair_prot_UmuC-like
IPR017963 - DNA_repair_prot_UmuC-like_N
IPR012112 - REV1

Pfam Domains:
PF00533 - BRCA1 C Terminus (BRCT) domain
PF00817 - impB/mucB/samB family
PF11799 - impB/mucB/samB family C-terminal domain
PF14377 - Domain of unknown function (DUF4414)
PF16589 - BRCT domain, a BRCA1 C-terminus domain
PF16727 - DNA repair protein REV1 C-terminal domain

SCOP Domains:
52113 - BRCT domain
100879 - Lesion bypass DNA polymerase (Y-family), little finger domain
56672 - DNA/RNA polymerases

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

2EBW
- NMR MuPIT

2LSK
- NMR MuPIT

2LSY
- NMR MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
3GQC - X-ray MuPIT 3VU7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UBZ9
FrontTopSide
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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0005515 protein binding
GO:0016740 transferase activity
GO:0016779 nucleotidyltransferase activity
GO:0017125 deoxycytidyl transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0006260 DNA replication
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0009411 response to UV
GO:0019985 translesion synthesis
GO:0042276 error-prone translesion synthesis
GO:0071897 DNA biosynthetic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AJ131720 - Homo sapiens mRNA for alpha integrin binding protein 80, partial.
AF151538 - Homo sapiens deoxycytidyl transferase (REV1) mRNA, complete cds.
AB047646 - Homo sapiens mRNA for Rev1S, complete cds.
AF206019 - Homo sapiens REV1 protein (REV1) mRNA, complete cds.
BC037734 - Homo sapiens REV1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:26225 IMAGE:4824689), complete cds.
AF357886 - Homo sapiens terminal deoxycytidyl transferase (REV1L) mRNA, complete cds.
JD069029 - Sequence 50053 from Patent EP1572962.
BC130411 - Homo sapiens REV1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:163283 IMAGE:40146442), complete cds.
JD193722 - Sequence 174746 from Patent EP1572962.
JD103729 - Sequence 84753 from Patent EP1572962.
AK025176 - Homo sapiens cDNA: FLJ21523 fis, clone COL05890, highly similar to AF206019 Homo sapiens REV1 protein (REV1) mRNA.
AK307719 - Homo sapiens cDNA, FLJ97667.
LF317448 - JP 2014500723-A/124951: Polycomb-Associated Non-Coding RNAs.
AK002087 - Homo sapiens cDNA FLJ11225 fis, clone PLACE1008275, weakly similar to DNA REPAIR PROTEIN REV1 (EC 2.7.7.-).
JD141265 - Sequence 122289 from Patent EP1572962.
MA553025 - JP 2018138019-A/124951: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UBZ9 (Reactome details) participates in the following event(s):

R-HSA-110307 REV1 binds AP-dsDNA
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-5655965 POLK and POLZ cooperate in elongation of mispaired primer termini
R-HSA-5656158 POLZ elongates POLI-incorporated dNMP
R-HSA-110308 REV1 inserts dCMP opposite to AP sites in DNA
R-HSA-5652151 REV1 recruits POLZ to (AP:Cyt)-DNA Template
R-HSA-110311 POLZ extends translesion synthesis
R-HSA-5655892 POLK incorporates dNMP opposite to damaged DNA base
R-HSA-5656148 POLI incorporates dNMP opposite to damaged DNA base
R-HSA-5653770 USP10 deubiquitinates monoUb:K164,ISG:K164,ISG:K168-PCNA
R-HSA-5653756 TRIM25 binds monoUb:164-PCNA
R-HSA-5653766 USP10 binds monoUb:K164,ISG:K164,ISG:K168-PCNA
R-HSA-5653754 UBE2L6:TRIM25 ISGylates monoUb:K164-PCNA
R-HSA-110312 Translesion synthesis by REV1
R-HSA-5655862 Translesion synthesis by POLK
R-HSA-5656121 Translesion synthesis by POLI
R-HSA-5656169 Termination of translesion DNA synthesis
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: NM_016316, NP_057400, O95941, Q53SI7, Q9C0J4, Q9NUP2, Q9UBZ9, REV1L, REV1_HUMAN
UCSC ID: uc002tad.3
RefSeq Accession: NM_016316
Protein: Q9UBZ9 (aka REV1_HUMAN)
CCDS: CCDS2045.1, CCDS42722.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_016316.2
exon count: 23CDS single in 3' UTR: no RNA size: 4751
ORF size: 3756CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7490.00frame shift in genome: no % Coverage: 99.64
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

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