RAD51 RAD51 recombinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAD51provided by HGNC
Official Full Name: RAD51 recombinaseprovided by HGNC
Primary source: HGNC:HGNC:9817
See related: Ensembl:ENSG00000051180 MIM:179617; AllianceGenome:HGNC:9817
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: RECA; BRCC5; FANCR; MRMV2; HRAD51; RAD51A; HsRad51; HsT16930
Summary: The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Expression: Biased expression in testis (RPKM 6.6), bone marrow (RPKM 3.5) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (40694733..40732340)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (38500415..38538035)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (40987372..41024538)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cryo-EM structures of RAD51 assembled on nucleosomes containing a DSB site.
Title: Cryo-EM structures of RAD51 assembled on nucleosomes containing a DSB site.
Trans-complementation by the RecB nuclease domain of RecBCD enzyme reveals new insight into RecA loading upon chi recognition.
Title: Trans-complementation by the RecB nuclease domain of RecBCD enzyme reveals new insight into RecA loading upon χ recognition.
RAD51 restricts DNA over-replication from re-activated origins.
Title: RAD51 restricts DNA over-replication from re-activated origins.
GRB2 stabilizes RAD51 at reversed replication forks suppressing genomic instability and innate immunity against cancer.
Title: GRB2 stabilizes RAD51 at reversed replication forks suppressing genomic instability and innate immunity against cancer.
Comparative study on the expression of Pax3, Rad51 and VEGF-C in esophageal gastric junction adenocarcinoma and distal gastric adenocarcinoma.
Title: Comparative study on the expression of Pax3, Rad51 and VEGF-C in esophageal gastric junction adenocarcinoma and distal gastric adenocarcinoma.
Association between polymorphisms of the DNA repair genes RAD51 and OGG1 and risk of cardiovascular disease.
Title: Association between polymorphisms of the DNA repair genes RAD51 and OGG1 and risk of cardiovascular disease.
FLIP(C1orf112)-FIGNL1 complex regulates RAD51 chromatin association to promote viability after replication stress.
Title: FLIP(C1orf112)-FIGNL1 complex regulates RAD51 chromatin association to promote viability after replication stress.
Positive and negative regulators of RAD51/DMC1 in homologous recombination and DNA replication.
Title: Positive and negative regulators of RAD51/DMC1 in homologous recombination and DNA replication.
Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities.
Title: Fanconi anemia-associated mutation in RAD51 compromises the coordinated action of DNA-binding and ATPase activities.
Differential impact of cytoplasmic vs. nuclear RAD51 expression on breast cancer progression and patient prognosis.
Title: Differential impact of cytoplasmic vs. nuclear RAD51 expression on breast cancer progression and patient prognosis.

Submit: New GeneRIF Correction See all GeneRIFs (526)

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

Associated conditions

Description	Tests
Familial cancer of breast MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	Compare labs
Fanconi anemia complementation group R MedGen: C4284093 OMIM: 617244 GeneReviews: Fanconi Anemia	Compare labs
Mirror movements 2 MedGen: C3281089 OMIM: 614508 GeneReviews: Congenital Mirror Movements	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Expression of Rad51 enhances basal- and HIV-1 Tat-induced transcription of the HIV-1 LTR promoter; this event requires cooperativity from the C/EBP family of transcription factors including C/EBPbeta and C/EBPbeta homologous protein (CHOP)	PubMed
	tat	In PC12 cells treated with genotoxic agents, HIV-1 Tat reduces DNA breakage and increases repair of DNA double-strand breaks through a mechanism involving the upregulation of Rad51, a key regulator of homologous recombination in cells	PubMed
	tat	HIV-1 Tat interacts with the RNA polymerase II holoenzyme, which includes HRAD51, during Tat-mediated transactivation of the HIV-1 LTR	PubMed
Vpr	vpr	HIV-1 Vpr inhibits the interaction of p53 and Rad51 in chromatin fractions, as observed under irradiation-induced DNA double-strand breaks	PubMed
	vpr	HIV-1 Vpr stimulates the focus formation of Rad51 and BRCA1, which are involved in repair of DNA double-strand breaks (DSBs) by homologous recombination (HR)	PubMed
integrase	gag-pol	K133A RAD51 mutant remains to bind DNA but is unable to form an active nucleofilament due to the poor binding of ATP, which results in the defect on IN inhibition	PubMed
	gag-pol	RAD51 protein inhibits the integration catalyzed by HIV-1 integrase both in vitro, in yeast expressing integrase and in infected cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D15S1311 (e-PCR)
- UniSTS:12050

RH65435 (e-PCR)
- UniSTS:60507

D15S1195 (e-PCR)
- UniSTS:76142

STS-D14134 (e-PCR)
- UniSTS:57459

RAD51_789 (e-PCR)
- UniSTS:277653

RAD51_V119 (e-PCR)
- UniSTS:277653

PMC30636P1 (e-PCR)
- UniSTS:272573

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent DNA damage sensor activity	IEA Inferred from Electronic Annotation more info
enables ATP-dependent activity, acting on DNA	IBA Inferred from Biological aspect of Ancestor more info
enables DNA polymerase binding	IPI Inferred from Physical Interaction more info	PubMed
enables DNA strand exchange activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA strand exchange activity	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables single-stranded DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded DNA helicase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IDA Inferred from Direct Assay more info	PubMed
involved_in DNA damage response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA recombinase assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA recombinase assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA recombination	TAS Traceable Author Statement more info	PubMed
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in DNA strand invasion	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA unwinding involved in DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to camptothecin	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hydroxyurea	IEA Inferred from Electronic Annotation more info
involved_in cellular response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to ionizing radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromosome organization involved in meiotic cell cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair involved in meiotic recombination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	TAS Traceable Author Statement more info	PubMed
involved_in interstrand cross-link repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in meiotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic recombination-dependent replication fork processing	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA ligation	IDA Inferred from Direct Assay more info	PubMed
involved_in reciprocal meiotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of DNA damage checkpoint	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of double-strand break repair via homologous recombination	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in replication fork processing	IDA Inferred from Direct Assay more info	PubMed
involved_in replication fork processing	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in replication-born double-strand break repair via sister chromatid exchange	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance via recombination	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in telomere maintenance via telomere lengthening	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IEA Inferred from Electronic Annotation more info
part_of chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
located_in condensed chromosome	ISS Inferred from Sequence or Structural Similarity more info
is_active_in condensed nuclear chromosome	IBA Inferred from Biological aspect of Ancestor more info
located_in condensed nuclear chromosome	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in lateral element	IDA Inferred from Direct Assay more info	PubMed
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in mitochondrial matrix	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear ubiquitin ligase complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed
located_in site of double-strand break	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA repair protein RAD51 homolog 1

Names: BRCA1/BRCA2-containing complex, subunit 5; RAD51 homolog A; RecA, E. coli, homolog of; RecA-like protein; recombination protein A

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.

Genomic

NG_012120.1 RefSeqGene

Range

5014..42180

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_313

mRNA and Protein(s)

NM_001164269.2 → NP_001157741.1 DNA repair protein RAD51 homolog 1 isoform 2

See identical proteins and their annotated locations for NP_001157741.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR, compared to variant 2. Both variants 2 and 4 encode the same isoform.

Source sequence(s)

AC012476, AC022405, AK131299

Consensus CDS

CCDS53931.1

UniProtKB/TrEMBL

Q5U0A5

Related

ENSP00000372088.3, ENST00000382643.7

Conserved Domains (3) summary

cd01123
Location:116 → 336

Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...

TIGR02239
Location:25 → 340

recomb_RAD51; DNA repair protein RAD51

pfam14520
Location:32 → 77

HHH_5; Helix-hairpin-helix domain
NM_001164270.2 → NP_001157742.1 DNA repair protein RAD51 homolog 1 isoform 3

See identical proteins and their annotated locations for NP_001157742.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate exon in the 5' coding region and lacks an alternate exon in the 3' coding region resulting in a frameshift, compared to variant 2. The resulting isoform (3) contains a distinct segment near the N-terminus and has a shorter and distinct C-terminus, compared to isoform 2.

Source sequence(s)

AC012476, D14134, EU362635

Consensus CDS

CCDS53932.1

UniProtKB/Swiss-Prot

Q06609

Related

ENSP00000406602.2, ENST00000423169.6

Conserved Domains (1) summary

TIGR02239
Location:25 → 258

recomb_RAD51; DNA repair protein RAD51
NM_002875.5 → NP_002866.2 DNA repair protein RAD51 homolog 1 isoform 1

See identical proteins and their annotated locations for NP_002866.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate exon in the 5' coding region, compared to variant 2. The resulting isoform (1) contains a distinct segment near the N-terminus, compared to isoform 2.

Source sequence(s)

AC012476, AK313503

Consensus CDS

CCDS10062.1

UniProtKB/Swiss-Prot

B0FXP0, B2R8T6, Q06609, Q6FHX9, Q6ZNA8, Q9BV60

UniProtKB/TrEMBL

Q5U0A5

Related

ENSP00000267868.3, ENST00000267868.8

Conserved Domains (1) summary

TIGR02239
Location:25 → 339

recomb_RAD51; DNA repair protein RAD51
NM_133487.4 → NP_597994.3 DNA repair protein RAD51 homolog 1 isoform 2

See identical proteins and their annotated locations for NP_597994.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2). Both variants 2 and 4 encode the same isoform.

Source sequence(s)

AC012476, AK291969

Consensus CDS

CCDS53931.1

UniProtKB/TrEMBL

Q5U0A5

Related

ENSP00000493712.2, ENST00000645673.2

Conserved Domains (3) summary

cd01123
Location:116 → 336

Rad51_DMC1_radA; Rad51_DMC1_radA,B. This group of recombinases includes the eukaryotic proteins RAD51, RAD55/57 and the meiosis-specific protein DMC1, and the archaeal proteins radA and radB. They are closely related to the bacterial RecA group. Rad51 proteins catalyze a ...

TIGR02239
Location:25 → 340

recomb_RAD51; DNA repair protein RAD51

pfam14520
Location:32 → 77

HHH_5; Helix-hairpin-helix domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

40694733..40732340

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011521857.3 → XP_011520159.2 DNA repair protein RAD51 homolog 1 isoform X1
XM_011521861.3 → XP_011520163.2 DNA repair protein RAD51 homolog 1 isoform X3
XM_011521860.3 → XP_011520162.1 DNA repair protein RAD51 homolog 1 isoform X2

See identical proteins and their annotated locations for XP_011520162.1

UniProtKB/Swiss-Prot

B0FXP0, B2R8T6, Q06609, Q6FHX9, Q6ZNA8, Q9BV60

UniProtKB/TrEMBL

Q5U0A5

Conserved Domains (1) summary

TIGR02239
Location:25 → 339

recomb_RAD51; DNA repair protein RAD51
XM_011521858.3 → XP_011520160.1 DNA repair protein RAD51 homolog 1 isoform X2

See identical proteins and their annotated locations for XP_011520160.1

UniProtKB/Swiss-Prot

B0FXP0, B2R8T6, Q06609, Q6FHX9, Q6ZNA8, Q9BV60

UniProtKB/TrEMBL

Q5U0A5

Related

ENSP00000433924.2, ENST00000532743.6

Conserved Domains (1) summary

TIGR02239
Location:25 → 339

recomb_RAD51; DNA repair protein RAD51
XM_011521859.3 → XP_011520161.1 DNA repair protein RAD51 homolog 1 isoform X2

See identical proteins and their annotated locations for XP_011520161.1

UniProtKB/Swiss-Prot

B0FXP0, B2R8T6, Q06609, Q6FHX9, Q6ZNA8, Q9BV60

UniProtKB/TrEMBL

Q5U0A5

Conserved Domains (1) summary

TIGR02239
Location:25 → 339

recomb_RAD51; DNA repair protein RAD51
XM_047432925.1 → XP_047288881.1 DNA repair protein RAD51 homolog 1 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060939.1 Alternate T2T-CHM13v2.0

Range

38500415..38538035

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054378566.1 → XP_054234541.1 DNA repair protein RAD51 homolog 1 isoform X1
XM_054378570.1 → XP_054234545.1 DNA repair protein RAD51 homolog 1 isoform X3
XM_054378567.1 → XP_054234542.1 DNA repair protein RAD51 homolog 1 isoform X2

UniProtKB/Swiss-Prot

B0FXP0, B2R8T6, Q06609, Q6FHX9, Q6ZNA8, Q9BV60
XM_054378569.1 → XP_054234544.1 DNA repair protein RAD51 homolog 1 isoform X2

UniProtKB/Swiss-Prot

B0FXP0, B2R8T6, Q06609, Q6FHX9, Q6ZNA8, Q9BV60
XM_054378568.1 → XP_054234543.1 DNA repair protein RAD51 homolog 1 isoform X2

UniProtKB/Swiss-Prot

B0FXP0, B2R8T6, Q06609, Q6FHX9, Q6ZNA8, Q9BV60
XM_054378571.1 → XP_054234546.1 DNA repair protein RAD51 homolog 1 isoform X4