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    REV1 REV1 DNA directed polymerase [ Homo sapiens (human) ]

    Gene ID: 51455, updated on 30-Oct-2024

    Summary

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    Official Symbol
    REV1provided by HGNC
    Official Full Name
    REV1 DNA directed polymeraseprovided by HGNC
    Primary source
    HGNC:HGNC:14060
    See related
    Ensembl:ENSG00000135945 MIM:606134; AllianceGenome:HGNC:14060
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    REV1L; AIBP80
    Summary
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 6.5), testis (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See REV1 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (99400477..99490202, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (99859127..99948858, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (100016940..100106479, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16281 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:99952564-99953104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16285 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:99953733-99954234 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:99954235-99954734 Neighboring gene thioredoxin domain containing 9 Neighboring gene lysozyme g1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:100019841-100021040 Neighboring gene eukaryotic translation initiation factor 5B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11809 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:100056357-100057026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:100092059-100092722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16288 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11810 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:100106417-100107302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:100146131-100146758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:100170377-100170925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:100170926-100171473 Neighboring gene NANOG hESC enhancer GRCh37_chr2:100171857-100172363 Neighboring gene NANOG hESC enhancer GRCh37_chr2:100188674-100189175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:100218069-100218631 Neighboring gene ALF transcription elongation factor 3 Neighboring gene uncharacterized LOC124906051 Neighboring gene uncharacterized LOC105373504

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The Catalytic Activity of Human REV1 on Undamaged and Damaged DNA. Stolyarenko AD, et al. Int J Mol Sci, 2024 Apr 8. PMID 38612916, Free PMC Article
    2. Effects of Twelve Germline Missense Variations on DNA Lesion and G-Quadruplex Bypass Activities of Human DNA Polymerase REV1. Yeom M, et al. Chem Res Toxicol, 2016 Mar 21. PMID 26914252, Free PMC Article
    3. Human Rev1 polymerase disrupts G-quadruplex DNA. Eddy S, et al. Nucleic Acids Res, 2014 Mar. PMID 24366879, Free PMC Article
    4. Insights into the regulation of human Rev1 for translesion synthesis polymerases revealed by the structural studies on its polymerase-interacting domain. Liu D, et al. J Mol Cell Biol, 2013 Jun. PMID 23220741
    5. Loss-of-function mutation of REV1 (p.R704Q) mediates cetuximab primary resistance by activating autophagy in RAS-wild type metastatic colorectal cancer. Zhu N, et al. Cancer Lett, 2024 Aug 28. PMID 38969162

    See all (100) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss-of-function mutation of REV1 (p.R704Q) mediates cetuximab primary resistance by activating autophagy in RAS-wild type metastatic colorectal cancer.
      Title: Loss-of-function mutation of REV1 (p.R704Q) mediates cetuximab primary resistance by activating autophagy in RAS-wild type metastatic colorectal cancer.
    2. The Catalytic Activity of Human REV1 on Undamaged and Damaged DNA.
      Title: The Catalytic Activity of Human REV1 on Undamaged and Damaged DNA.
    3. REV1 promotes lung tumorigenesis by activating the Rad18/SERTAD2 axis.
      Title: REV1 promotes lung tumorigenesis by activating the Rad18/SERTAD2 axis.
    4. Genetic and physical interactions between Poleta and Rev1 in response to UV-induced DNA damage in mammalian cells.
      Title: Genetic and physical interactions between Polη and Rev1 in response to UV-induced DNA damage in mammalian cells.
    5. REV1-Polzeta maintains the viability of homologous recombination-deficient cancer cells through mutagenic repair of PRIMPOL-dependent ssDNA gaps.
      Title: REV1-Polζ maintains the viability of homologous recombination-deficient cancer cells through mutagenic repair of PRIMPOL-dependent ssDNA gaps.
    6. Human Rev1 relies on insert-2 to promote selective binding and accurate replication of stabilized G-quadruplex motifs.
      Title: Human Rev1 relies on insert-2 to promote selective binding and accurate replication of stabilized G-quadruplex motifs.
    7. Exome Sequencing in Individuals with Isolated Biliary Atresia.
      Title: Exome Sequencing in Individuals with Isolated Biliary Atresia.
    8. elevated expression of Rev1 alone is sufficient to confer enhanced UV-damage tolerance and that this tolerance depends on its physical interaction with monoubiquitinated PCNA and Polzeta but is independent of Poleta.
      Title: Rev1 plays central roles in mammalian DNA-damage tolerance in response to UV irradiation.
    9. Study reports the solution NMR structure of a 108-residue fragment of human REV1 encompassing the two putative ubiquitin-binding motifs UBM1 and UBM2 in complex with ubiquitin. While in mammals UBM1 and UBM2 are both required for optimal association of REV1 with replication factories after DNA damage, only REV1 UBM2 binds ubiquitin.
      Title: Structural Basis for the Interaction of Mutasome Assembly Factor REV1 with Ubiquitin.
    10. RAD51 regulates REV1 recruitment to DNA double-strand break sites via pulsed laser microirradiation.
      Title: [RAD51 regulates REV1 recruitment to DNA double-strand <br/>break sites].
    Submit: New GeneRIF Correction See all GeneRIFs (58)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21523, MGC26225, MGC163283

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-directed DNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables deoxycytidyl transferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables deoxycytidyl transferase activity TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA replication TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in error-free translesion synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in error-prone translesion synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in error-prone translesion synthesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to UV IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    DNA repair protein REV1
    Names
    REV1 homolog
    REV1, polymerase (DNA directed)
    REV1- like
    alpha integrin-binding protein 80
    rev1-like terminal deoxycytidyl transferase

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001037872.3 → NP_001032961.1  DNA repair protein REV1 isoform 2

      See identical proteins and their annotated locations for NP_001032961.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AB047646, BM683065, HY010913
      Consensus CDS
      CCDS42722.1
      UniProtKB/TrEMBL
      A1L461
      Related
      ENSP00000377091.3, ENST00000393445.7
      Conserved Domains (4) summary
      cd01701
      Location:348 → 823
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46 → 118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:938 → 1056
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:1129 → 1249
      REV1_C; DNA repair protein REV1 C-terminal domain

    2. NM_001321454.2 → NP_001308383.1  DNA repair protein REV1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AF206019, BM683065, DA304601
      UniProtKB/TrEMBL
      A1L461
      Conserved Domains (4) summary
      cd01701
      Location:348 → 860
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46 → 118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:975 → 1093
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:1166 → 1286
      REV1_C; DNA repair protein REV1 C-terminal domain

    3. NM_001321455.2 → NP_001308384.1  DNA repair protein REV1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AB047646, AC018690, BC037734, BM683065, HY010913
      UniProtKB/TrEMBL
      A1L461
      Conserved Domains (4) summary
      cd01701
      Location:278 → 753
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:4 → 48
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:868 → 986
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:1059 → 1179
      REV1_C; DNA repair protein REV1 C-terminal domain

    4. NM_001321458.2 → NP_001308387.1  DNA repair protein REV1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AB047646, AC018690, BM683065, DA304601, HY010913
      UniProtKB/Swiss-Prot
      Q9UBZ9
      Conserved Domains (3) summary
      cd01701
      Location:27 → 334
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:449 → 567
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:640 → 760
      REV1_C; DNA repair protein REV1 C-terminal domain

    5. NM_001321459.2 → NP_001308388.1  DNA repair protein REV1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) and variant 7 both encode the same isoform (6).
      Source sequence(s)
      AC018690, AF206019, BM683065, BP269179
      UniProtKB/Swiss-Prot
      Q9UBZ9
      Conserved Domains (3) summary
      cd01701
      Location:1 → 301
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:416 → 534
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:600 → 727
      REV1_C; DNA repair protein REV1 C-terminal domain

    6. NM_001321460.2 → NP_001308389.1  DNA repair protein REV1 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) and variant 6 both encode the same isoform (6).
      Source sequence(s)
      AB047646, AC018690, BM683065, BP269179, HY010913
      UniProtKB/Swiss-Prot
      Q9UBZ9
      Conserved Domains (3) summary
      cd01701
      Location:1 → 301
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:416 → 534
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:600 → 727
      REV1_C; DNA repair protein REV1 C-terminal domain

    7. NM_016316.4 → NP_057400.1  DNA repair protein REV1 isoform 1

      See identical proteins and their annotated locations for NP_057400.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC018690, AF151538, BM683065, HY010913
      Consensus CDS
      CCDS2045.1
      UniProtKB/Swiss-Prot
      O95941, Q53SI7, Q9C0J4, Q9NUP2, Q9UBZ9
      UniProtKB/TrEMBL
      A1L461
      Related
      ENSP00000258428.3, ENST00000258428.8
      Conserved Domains (4) summary
      cd01701
      Location:348 → 824
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46 → 118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:939 → 1057
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:1130 → 1250
      REV1_C; DNA repair protein REV1 C-terminal domain

    RNA

    1. NR_135649.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018690, AK025176, BF934582, BM683065, BP269179, BP332286, CA951106, CK300059, CR736537, DA407212, DA852908, DR000409, HY010913

    2. NR_135650.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018690, BC037734, BM683065
      Related
      ENST00000413697.5

    3. NR_135651.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB047646, BM683065, HY010913

    4. NR_135652.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF206019, BC037734, BM683065

    5. NR_135653.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF206019, BM683065

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      99400477..99490202 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004311.2 → XP_016859800.1  DNA repair protein REV1 isoform X6

      UniProtKB/TrEMBL
      A1L461
      Conserved Domains (4) summary
      cd01701
      Location:348 → 860
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46 → 118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:975 → 1093
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:1166 → 1286
      REV1_C; DNA repair protein REV1 C-terminal domain

    2. XM_047444723.1 → XP_047300679.1  DNA repair protein REV1 isoform X10

    3. XM_047444721.1 → XP_047300677.1  DNA repair protein REV1 isoform X9

      UniProtKB/Swiss-Prot
      O95941, Q53SI7, Q9C0J4, Q9NUP2, Q9UBZ9

    4. XM_047444719.1 → XP_047300675.1  DNA repair protein REV1 isoform X7

    5. XM_017004312.3 → XP_016859801.1  DNA repair protein REV1 isoform X7

      UniProtKB/TrEMBL
      A1L461
      Conserved Domains (3) summary
      cd01701
      Location:348 → 859
      PolY_Rev1; DNA polymerase Rev1
      cd12145
      Location:1192 → 1285
      Rev1_C; C-terminal domain of the Y-family polymerase Rev1
      cd17719
      Location:48 → 131
      BRCT_Rev1; BRCT domain of DNA repair protein Rev1 and similar proteins

    6. XM_047444717.1 → XP_047300673.1  DNA repair protein REV1 isoform X2

    7. XM_017004309.3 → XP_016859798.1  DNA repair protein REV1 isoform X5

      UniProtKB/TrEMBL
      A1L461

    8. XM_017004310.2 → XP_016859799.2  DNA repair protein REV1 isoform X1

    9. XM_017004313.2 → XP_016859802.1  DNA repair protein REV1 isoform X4

      UniProtKB/TrEMBL
      A1L461

    10. XM_047444720.1 → XP_047300676.1  DNA repair protein REV1 isoform X8

    11. XM_047444718.1 → XP_047300674.1  DNA repair protein REV1 isoform X3

    12. XM_047444724.1 → XP_047300680.1  DNA repair protein REV1 isoform X11

    13. XM_011511341.3 → XP_011509643.1  DNA repair protein REV1 isoform X12

      See identical proteins and their annotated locations for XP_011509643.1

      Conserved Domains (3) summary
      cd01701
      Location:27 → 334
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:449 → 567
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:640 → 760
      REV1_C; DNA repair protein REV1 C-terminal domain

    14. XM_047444725.1 → XP_047300681.1  DNA repair protein REV1 isoform X13

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      99859127..99948858 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342509.1 → XP_054198484.1  DNA repair protein REV1 isoform X6

    2. XM_054342514.1 → XP_054198489.1  DNA repair protein REV1 isoform X10

    3. XM_054342513.1 → XP_054198488.1  DNA repair protein REV1 isoform X9

      UniProtKB/Swiss-Prot
      O95941, Q53SI7, Q9C0J4, Q9NUP2, Q9UBZ9

    4. XM_054342511.1 → XP_054198486.1  DNA repair protein REV1 isoform X7

    5. XM_054342510.1 → XP_054198485.1  DNA repair protein REV1 isoform X7

    6. XM_054342505.1 → XP_054198480.1  DNA repair protein REV1 isoform X2

    7. XM_054342508.1 → XP_054198483.1  DNA repair protein REV1 isoform X5

    8. XM_054342504.1 → XP_054198479.1  DNA repair protein REV1 isoform X1

    9. XM_054342507.1 → XP_054198482.1  DNA repair protein REV1 isoform X4

    10. XM_054342512.1 → XP_054198487.1  DNA repair protein REV1 isoform X8

    11. XM_054342506.1 → XP_054198481.1  DNA repair protein REV1 isoform X3

    12. XM_054342515.1 → XP_054198490.1  DNA repair protein REV1 isoform X11

    13. XM_054342516.1 → XP_054198491.1  DNA repair protein REV1 isoform X12

    14. XM_054342517.1 → XP_054198492.1  DNA repair protein REV1 isoform X13

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UBZ9.1 GenPept UniProtKB/Swiss-Prot:Q9UBZ9

    Gene LinkOut

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