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

Gene ID: 51455, updated on 6-Jan-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, ENST00000258428.7
    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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