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

Gene ID: 51455, updated on 2-Nov-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
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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
NP_001032961.1
NP_001308383.1
NP_001308384.1
NP_001308387.1
NP_001308388.1
NP_001308389.1
NP_057400.1
XP_011509643.1
XP_016859798.1
XP_016859799.2
XP_016859800.1
XP_016859801.1
XP_016859802.1
XP_047300673.1
XP_047300674.1
XP_047300675.1
XP_047300676.1
XP_047300677.1
XP_047300679.1
XP_047300680.1
XP_047300681.1
XP_054198479.1
XP_054198480.1
XP_054198481.1
XP_054198482.1
XP_054198483.1
XP_054198484.1
XP_054198485.1
XP_054198486.1
XP_054198487.1
XP_054198488.1
XP_054198489.1
XP_054198490.1
XP_054198491.1
XP_054198492.1

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

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