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

    Gene ID: 51455, updated on 20-Apr-2019

    Summary

    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
    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

    Genomic context

    See REV1 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (99400475..99490123, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (100016938..100106480, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985923 Neighboring gene thioredoxin domain containing 9 Neighboring gene eukaryotic translation initiation factor 5B Neighboring gene AF4/FMR2 family member 3 Neighboring gene uncharacterized LOC105373504 Neighboring gene uncharacterized LOC112268421

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

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

    Pathways from BioSystems

    • DNA Damage Bypass, organism-specific biosystem (from REACTOME)
      DNA Damage Bypass, organism-specific biosystemIn addition to various processes for removing lesions from the DNA, cells have developed specific mechanisms for tolerating unrepaired damage during the replication of the genome. These mechanisms ar...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Termination of translesion DNA synthesis, organism-specific biosystem (from REACTOME)
      Termination of translesion DNA synthesis, organism-specific biosystemThe initiation and extent of translesion DNA synthesis (TLS) has to be tightly controlled in order to limit TLS-induced mutagenesis, caused by the low fidelity of TLS-participating DNA polymerases. S...
    • Translesion synthesis by POLI, organism-specific biosystem (from REACTOME)
      Translesion synthesis by POLI, organism-specific biosystemDNA polymerase iota (POLI) is a Y family DNA polymerase with an active site that favours Hoogsteen base pairing instead of Watson-Crick base pairing. POLI-mediated Hoogsteen base pairing and rotation...
    • Translesion synthesis by POLK, organism-specific biosystem (from REACTOME)
      Translesion synthesis by POLK, organism-specific biosystemDNA polymerase kappa (POLK) is a Y family DNA polymerase that is most efficient in translesion DNA synthesis (TLS) across oxidation derivatives of DNA bases, such as thymine glycol (Tg) and 8-oxoguan...
    • Translesion synthesis by REV1, organism-specific biosystem (from REACTOME)
      Translesion synthesis by REV1, organism-specific biosystemREV1 (hREV1) encodes a template-dependent dCMP transferase that can insert a C residue opposite an abasic site (Lin et al. 1999, Gibbs et al. 2000). Interaction with monoubiquitinated PCNA at a DNA d...
    • Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystem (from REACTOME)
      Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template, organism-specific biosystemUbiquitous environmental and endogenous genotoxic agents cause DNA lesions that can interfere with normal DNA metabolism including DNA replication, eventually resulting in mutations that lead to carc...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ21523, MGC26225, MGC163283

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    damaged DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    deoxycytidyl transferase activity TAS
    Traceable Author Statement
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA replication TAS
    Traceable Author Statement
    more info
    PubMed 
    error-prone translesion synthesis TAS
    Traceable Author Statement
    more info
    PubMed 
    response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    translesion synthesis TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
     

    General protein information

    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_016859799.1
    XP_016859800.1
    XP_016859801.1
    XP_016859802.1
    XP_016859803.1
    XP_016859804.1
    XP_024308728.1

    NCBI Reference Sequences (RefSeq)

    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_001037872.2NP_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/Swiss-Prot
      Q9UBZ9
      Related
      ENSP00000377091.3, ENST00000393445.7
      Conserved Domains (4) summary
      cd01701
      Location:348823
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:9381056
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:11291249
      REV1_C; DNA repair protein REV1 C-terminal domain
    2. NM_001321454.1NP_001308383.1  DNA repair protein REV1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AF206019, BM683065, DA304601, HY010913
      UniProtKB/Swiss-Prot
      Q9UBZ9
      Conserved Domains (4) summary
      cd01701
      Location:348860
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:9751093
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:11661286
      REV1_C; DNA repair protein REV1 C-terminal domain
    3. NM_001321455.1NP_001308384.1  DNA repair protein REV1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AB047646, AC018690, BC037734, BM683065, HY010913
      UniProtKB/Swiss-Prot
      Q9UBZ9
      UniProtKB/TrEMBL
      Q49AI5
      Conserved Domains (4) summary
      cd01701
      Location:278753
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:448
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:868986
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:10591179
      REV1_C; DNA repair protein REV1 C-terminal domain
    4. NM_001321458.1NP_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:27334
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:449567
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:640760
      REV1_C; DNA repair protein REV1 C-terminal domain
    5. NM_001321459.1NP_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, HY010913
      UniProtKB/Swiss-Prot
      Q9UBZ9
      Conserved Domains (3) summary
      cd01701
      Location:1301
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:416534
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:600727
      REV1_C; DNA repair protein REV1 C-terminal domain
    6. NM_001321460.1NP_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:1301
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:416534
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:600727
      REV1_C; DNA repair protein REV1 C-terminal domain
    7. NM_016316.4NP_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
      Q9UBZ9
      Related
      ENSP00000258428.3, ENST00000258428.8
      Conserved Domains (4) summary
      cd01701
      Location:348824
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:9391057
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:11301250
      REV1_C; DNA repair protein REV1 C-terminal domain

    RNA

    1. NR_135649.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018690, AK025176, BF934582, BM683065, BP269179, BP332286, CA951106, CK300059, CR736537, DA407212, DA852908, DR000409, HY010913
    2. NR_135650.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC018690, BC037734, BM683065, HY010913
      Related
      ENST00000413697.5
    3. NR_135651.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AB047646, BM683065, HY010913
    4. NR_135652.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF206019, BC037734, BM683065, HY010913
    5. NR_135653.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AF206019, BM683065, HY010913

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      99400475..99490123 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004311.1XP_016859800.1  DNA repair protein REV1 isoform X2

      Conserved Domains (4) summary
      cd01701
      Location:348860
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:9751093
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:11661286
      REV1_C; DNA repair protein REV1 C-terminal domain
    2. XM_017004312.2XP_016859801.1  DNA repair protein REV1 isoform X3

      Conserved Domains (4) summary
      cd01701
      Location:348859
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:9741092
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:11651285
      REV1_C; DNA repair protein REV1 C-terminal domain
    3. XM_024452960.1XP_024308728.1  DNA repair protein REV1 isoform X7

      Conserved Domains (3) summary
      cd01701
      Location:1301
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:416534
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:600727
      REV1_C; DNA repair protein REV1 C-terminal domain
    4. XM_017004309.2XP_016859798.1  DNA repair protein REV1 isoform X1

    5. XM_017004313.1XP_016859802.1  DNA repair protein REV1 isoform X4

    6. XM_017004310.1XP_016859799.1  DNA repair protein REV1 isoform X2

      Conserved Domains (4) summary
      cd01701
      Location:348860
      PolY_Rev1; DNA polymerase Rev1
      smart00292
      Location:46118
      BRCT; breast cancer carboxy-terminal domain
      pfam14377
      Location:9751093
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:11661286
      REV1_C; DNA repair protein REV1 C-terminal domain
    7. XM_017004314.2XP_016859803.1  DNA repair protein REV1 isoform X5

      Conserved Domains (3) summary
      cd01701
      Location:27334
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:449567
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:640760
      REV1_C; DNA repair protein REV1 C-terminal domain
    8. XM_017004315.2XP_016859804.1  DNA repair protein REV1 isoform X6

    9. XM_011511341.2XP_011509643.1  DNA repair protein REV1 isoform X5

      See identical proteins and their annotated locations for XP_011509643.1

      Conserved Domains (3) summary
      cd01701
      Location:27334
      PolY_Rev1; DNA polymerase Rev1
      pfam14377
      Location:449567
      DUF4414; Domain of unknown function (DUF4414)
      pfam16727
      Location:640760
      REV1_C; DNA repair protein REV1 C-terminal domain
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