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Protein

DNA repair protein RAD51 homolog 2

Gene

RAD51B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA breaks arising during DNA replication or induced by DNA-damaging agents. May promote the assembly of presynaptic RAD51 nucleoprotein filaments. Binds single-stranded DNA and double-stranded DNA and has DNA-dependent ATPase activity. Part of the RAD21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA. The BCDX2 subcomplex RAD51B:RAD51C exhibits single-stranded DNA-dependent ATPase activity suggesting an involvement in early stages of the HR pathway.6 Publications

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi108 – 1158ATPSequence analysis

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • DNA binding Source: ProtInc
  • DNA-dependent ATPase activity Source: UniProtKB
  • double-stranded DNA binding Source: UniProtKB
  • recombinase activity Source: GO_Central
  • single-stranded DNA binding Source: UniProtKB

GO - Biological processi

  • blastocyst growth Source: Ensembl
  • blood coagulation Source: Reactome
  • DNA recombination Source: ProtInc
  • DNA repair Source: ProtInc
  • DNA synthesis involved in DNA repair Source: Reactome
  • double-strand break repair via homologous recombination Source: UniProtKB
  • meiotic DNA recombinase assembly Source: GO_Central
  • mitotic recombination Source: GO_Central
  • positive regulation of cell proliferation Source: Ensembl
  • positive regulation of G2/M transition of mitotic cell cycle Source: UniProtKB
  • reciprocal meiotic recombination Source: ProtInc
  • response to ionizing radiation Source: GO_Central
  • somite development Source: Ensembl
  • strand displacement Source: Reactome
  • strand invasion Source: GO_Central
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA recombination, DNA repair

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-5685942. HDR through Homologous Recombination (HRR).
R-HSA-5693554. Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).
R-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.
R-HSA-5693579. Homologous DNA Pairing and Strand Exchange.
R-HSA-5693616. Presynaptic phase of homologous DNA pairing and strand exchange.
R-HSA-983231. Factors involved in megakaryocyte development and platelet production.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA repair protein RAD51 homolog 2
Short name:
R51H2
Alternative name(s):
RAD51 homolog B
Short name:
Rad51B
RAD51-like protein 1
Gene namesi
Name:RAD51B
Synonyms:RAD51L1, REC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:9822. RAD51B.

Subcellular locationi

GO - Cellular componenti

  • nucleoplasm Source: Reactome
  • nucleus Source: ProtInc
  • Rad51B-Rad51C-Rad51D-XRCC2 complex Source: UniProtKB
  • replication fork Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving RAD51B is found in pulmonary chondroid hamartoma. Translocation t(6;14)(p21;q23-24) with HMGA1.

A chromosomal aberration involving RAD51B is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with HMGA2.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi326 – 3261P → L: Abolishs interaction with BCR-ABL SH3 domain. 1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei252 – 2532Breakpoint for translocation to form HMGA2-RAD51B

Organism-specific databases

MIMi150699. phenotype.
PharmGKBiPA34178.

Polymorphism and mutation databases

BioMutaiRAD51B.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 384384DNA repair protein RAD51 homolog 2PRO_0000122939Add
BLAST

Post-translational modificationi

Phosphorylated on tyrosine residues by BCR-ALB.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO15315.
PaxDbiO15315.
PeptideAtlasiO15315.
PRIDEiO15315.
TopDownProteomicsiO15315-2. [O15315-2]

PTM databases

iPTMnetiO15315.
PhosphoSiteiO15315.

Expressioni

Tissue specificityi

Expressed in a wide range of tissues.

Gene expression databases

BgeeiENSG00000182185.
ExpressionAtlasiO15315. baseline and differential.
GenevisibleiO15315. HS.

Organism-specific databases

HPAiCAB016191.
HPA051869.

Interactioni

Subunit structurei

Part of the BCDX2 complex consisting of RAD51B, RAD51C, RAD51D and XRCC2; the complex has a ring-like structure arranged into a flat disc around a central channel. The BCDX2 subcomplex RAD51B:RAD51C interacts with RAD51. Interacts with SWSAP1; involved in homologous recombination repair.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FAM9BQ8IZU03EBI-2824089,EBI-10175124
RAD51CO4350210EBI-2824089,EBI-2267048
RAD51DO757715EBI-2824089,EBI-1055693
SWSAP1Q6NVH72EBI-2824089,EBI-5281637

Protein-protein interaction databases

BioGridi111827. 10 interactions.
DIPiDIP-41246N.
IntActiO15315. 7 interactions.
MINTiMINT-224850.
STRINGi9606.ENSP00000419471.

Structurei

3D structure databases

ProteinModelPortaliO15315.
SMRiO15315. Positions 10-342.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni1 – 7575Interaction with RAD51CAdd
BLAST

Sequence similaritiesi

Belongs to the RecA family. RAD51 subfamily.Curated

Phylogenomic databases

eggNOGiKOG1433. Eukaryota.
COG0468. LUCA.
GeneTreeiENSGT00770000120539.
HOVERGENiHBG061476.
InParanoidiO15315.
KOiK10869.
OMAiGNTWSHC.
PhylomeDBiO15315.
TreeFamiTF101219.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR013632. DNA_recomb/repair_Rad51_C.
IPR016467. DNA_recomb/repair_RecA-like.
IPR027417. P-loop_NTPase.
IPR030548. RAD51B.
IPR020588. RecA_ATP-bd.
[Graphical view]
PANTHERiPTHR22942:SF15. PTHR22942:SF15. 1 hit.
PfamiPF08423. Rad51. 1 hit.
[Graphical view]
PIRSFiPIRSF005856. Rad51. 1 hit.
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50162. RECA_2. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O15315-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGSKKLKRVG LSQELCDRLS RHQILTCQDF LCLSPLELMK VTGLSYRGVH
60 70 80 90 100
ELLCMVSRAC APKMQTAYGI KAQRSADFSP AFLSTTLSAL DEALHGGVAC
110 120 130 140 150
GSLTEITGPP GCGKTQFCIM MSILATLPTN MGGLEGAVVY IDTESAFSAE
160 170 180 190 200
RLVEIAESRF PRYFNTEEKL LLTSSKVHLY RELTCDEVLQ RIESLEEEII
210 220 230 240 250
SKGIKLVILD SVASVVRKEF DAQLQGNLKE RNKFLAREAS SLKYLAEEFS
260 270 280 290 300
IPVILTNQIT THLSGALASQ ADLVSPADDL SLSEGTSGSS CVIAALGNTW
310 320 330 340 350
SHSVNTRLIL QYLDSERRQI LIAKSPLAPF TSFVYTIKEE GLVLQETTFC
360 370 380
SVTQAELNWA PEILPPQPPE QLGLQMCHHT QLIF
Length:384
Mass (Da):42,196
Last modified:November 7, 2003 - v2
Checksum:iDB0B9AE82F44A52B
GO
Isoform 2 (identifier: O15315-1) [UniParc]FASTAAdd to basket
Also known as: RAD51L1a

The sequence of this isoform differs from the canonical sequence as follows:
     346-384: ETTFCSVTQAELNWAPEILPPQPPEQLGLQMCHHTQLIF → AYGNS

Show »
Length:350
Mass (Da):38,257
Checksum:iCEA992DDC394F3B0
GO
Isoform 3 (identifier: O15315-2) [UniParc]FASTAAdd to basket
Also known as: RAD51L1b

The sequence of this isoform differs from the canonical sequence as follows:
     346-384: ETTFCSVTQAELNWAPEILPPQPPEQLGLQMCHHTQLIF → GQEKP

Show »
Length:350
Mass (Da):38,304
Checksum:iCC7EE1B04634F3B0
GO
Isoform 4 (identifier: O15315-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     347-384: TTFCSVTQAELNWAPEILPPQPPEQLGLQMCHHTQLIF → FWHICISGFSIQNRLKENES

Note: No experimental confirmation available.
Show »
Length:366
Mass (Da):40,284
Checksum:i790D20F0E8EB791A
GO
Isoform 5 (identifier: O15315-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-119: Missing.
     346-384: ETTFCSVTQAELNWAPEILPPQPPEQLGLQMCHHTQLIF → GQEKP

Note: No experimental confirmation available.
Show »
Length:231
Mass (Da):25,527
Checksum:i2EAE6E210C8E74B6
GO

Sequence cautioni

The sequence CAD62357 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAD66573 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti281 – 2811S → P in AAN60542 (PubMed:15489334).Curated
Sequence conflicti281 – 2811S → P in AAN60543 (PubMed:15489334).Curated
Sequence conflicti281 – 2811S → P in AAN60544 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti9 – 91V → M.1 Publication
Corresponds to variant rs34583846 [ dbSNP | Ensembl ].
VAR_025243
Natural varianti82 – 821F → C.1 Publication
Corresponds to variant rs35282642 [ dbSNP | Ensembl ].
VAR_025244
Natural varianti172 – 1721L → W.1 Publication
Corresponds to variant rs34094401 [ dbSNP | Ensembl ].
VAR_025245
Natural varianti180 – 1801Y → C.1 Publication
Corresponds to variant rs28910275 [ dbSNP | Ensembl ].
VAR_025246
Natural varianti207 – 2071V → L.
Corresponds to variant rs28908168 [ dbSNP | Ensembl ].
VAR_035437
Natural varianti243 – 2431K → R.1 Publication
Corresponds to variant rs34594234 [ dbSNP | Ensembl ].
VAR_025247
Natural varianti250 – 2501S → A.1 Publication
Corresponds to variant rs33929366 [ dbSNP | Ensembl ].
VAR_025248
Natural varianti365 – 3651P → R.
Corresponds to variant rs28908468 [ dbSNP | Ensembl ].
VAR_051730

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 119119Missing in isoform 5. 1 PublicationVSP_008817Add
BLAST
Alternative sequencei346 – 38439ETTFC…TQLIF → AYGNS in isoform 2. 3 PublicationsVSP_008819Add
BLAST
Alternative sequencei346 – 38439ETTFC…TQLIF → GQEKP in isoform 3 and isoform 5. 2 PublicationsVSP_008818Add
BLAST
Alternative sequencei347 – 38438TTFCS…TQLIF → FWHICISGFSIQNRLKENES in isoform 4. 1 PublicationVSP_008820Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U92074 mRNA. Translation: AAB63358.1.
U84138 mRNA. Translation: AAC39723.1.
Y15571 mRNA. Translation: CAA75680.1.
BX161515 mRNA. Translation: CAD61950.1.
BX248061 mRNA. Translation: CAD62357.1. Different initiation.
BX248766 mRNA. Translation: CAD66573.1. Different initiation.
DQ160197 Genomic DNA. Translation: AAZ85144.1.
AC004518 Genomic DNA. Translation: AAC32426.1.
AC004518 Genomic DNA. Translation: AAC32425.1.
CR536560 mRNA. Translation: CAG38797.1.
CH471061 Genomic DNA. Translation: EAW80957.1.
BC030219 mRNA. Translation: AAH30219.1.
AY138857 mRNA. Translation: AAN60542.1.
AY138858 mRNA. Translation: AAN60543.1.
AY138859 mRNA. Translation: AAN60544.1.
CCDSiCCDS9789.1. [O15315-3]
CCDS9790.1. [O15315-2]
RefSeqiNP_001308746.1. NM_001321817.1. [O15315-5]
NP_002868.1. NM_002877.5. [O15315-1]
NP_598193.2. NM_133509.3. [O15315-3]
NP_598194.1. NM_133510.3. [O15315-2]
UniGeneiHs.172587.

Genome annotation databases

EnsembliENST00000471583; ENSP00000418859; ENSG00000182185. [O15315-2]
ENST00000487270; ENSP00000419471; ENSG00000182185. [O15315-3]
ENST00000488612; ENSP00000420061; ENSG00000182185. [O15315-4]
GeneIDi5890.
KEGGihsa:5890.
UCSCiuc001xkd.4. human. [O15315-3]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U92074 mRNA. Translation: AAB63358.1.
U84138 mRNA. Translation: AAC39723.1.
Y15571 mRNA. Translation: CAA75680.1.
BX161515 mRNA. Translation: CAD61950.1.
BX248061 mRNA. Translation: CAD62357.1. Different initiation.
BX248766 mRNA. Translation: CAD66573.1. Different initiation.
DQ160197 Genomic DNA. Translation: AAZ85144.1.
AC004518 Genomic DNA. Translation: AAC32426.1.
AC004518 Genomic DNA. Translation: AAC32425.1.
CR536560 mRNA. Translation: CAG38797.1.
CH471061 Genomic DNA. Translation: EAW80957.1.
BC030219 mRNA. Translation: AAH30219.1.
AY138857 mRNA. Translation: AAN60542.1.
AY138858 mRNA. Translation: AAN60543.1.
AY138859 mRNA. Translation: AAN60544.1.
CCDSiCCDS9789.1. [O15315-3]
CCDS9790.1. [O15315-2]
RefSeqiNP_001308746.1. NM_001321817.1. [O15315-5]
NP_002868.1. NM_002877.5. [O15315-1]
NP_598193.2. NM_133509.3. [O15315-3]
NP_598194.1. NM_133510.3. [O15315-2]
UniGeneiHs.172587.

3D structure databases

ProteinModelPortaliO15315.
SMRiO15315. Positions 10-342.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111827. 10 interactions.
DIPiDIP-41246N.
IntActiO15315. 7 interactions.
MINTiMINT-224850.
STRINGi9606.ENSP00000419471.

PTM databases

iPTMnetiO15315.
PhosphoSiteiO15315.

Polymorphism and mutation databases

BioMutaiRAD51B.

Proteomic databases

MaxQBiO15315.
PaxDbiO15315.
PeptideAtlasiO15315.
PRIDEiO15315.
TopDownProteomicsiO15315-2. [O15315-2]

Protocols and materials databases

DNASUi5890.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000471583; ENSP00000418859; ENSG00000182185. [O15315-2]
ENST00000487270; ENSP00000419471; ENSG00000182185. [O15315-3]
ENST00000488612; ENSP00000420061; ENSG00000182185. [O15315-4]
GeneIDi5890.
KEGGihsa:5890.
UCSCiuc001xkd.4. human. [O15315-3]

Organism-specific databases

CTDi5890.
GeneCardsiRAD51B.
H-InvDBHIX0022466.
HGNCiHGNC:9822. RAD51B.
HPAiCAB016191.
HPA051869.
MIMi150699. phenotype.
602948. gene.
neXtProtiNX_O15315.
PharmGKBiPA34178.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1433. Eukaryota.
COG0468. LUCA.
GeneTreeiENSGT00770000120539.
HOVERGENiHBG061476.
InParanoidiO15315.
KOiK10869.
OMAiGNTWSHC.
PhylomeDBiO15315.
TreeFamiTF101219.

Enzyme and pathway databases

ReactomeiR-HSA-5685942. HDR through Homologous Recombination (HRR).
R-HSA-5693554. Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA).
R-HSA-5693568. Resolution of D-loop Structures through Holliday Junction Intermediates.
R-HSA-5693579. Homologous DNA Pairing and Strand Exchange.
R-HSA-5693616. Presynaptic phase of homologous DNA pairing and strand exchange.
R-HSA-983231. Factors involved in megakaryocyte development and platelet production.

Miscellaneous databases

ChiTaRSiRAD51B. human.
GeneWikiiRAD51L1.
GenomeRNAii5890.
PROiO15315.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182185.
ExpressionAtlasiO15315. baseline and differential.
GenevisibleiO15315. HS.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR003593. AAA+_ATPase.
IPR013632. DNA_recomb/repair_Rad51_C.
IPR016467. DNA_recomb/repair_RecA-like.
IPR027417. P-loop_NTPase.
IPR030548. RAD51B.
IPR020588. RecA_ATP-bd.
[Graphical view]
PANTHERiPTHR22942:SF15. PTHR22942:SF15. 1 hit.
PfamiPF08423. Rad51. 1 hit.
[Graphical view]
PIRSFiPIRSF005856. Rad51. 1 hit.
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS50162. RECA_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiRA51B_HUMAN
AccessioniPrimary (citable) accession number: O15315
Secondary accession number(s): O60914
, O75210, Q3Y4F8, Q6FHX8, Q86SY3, Q86SY4, Q86TR0, Q86U92, Q86U93, Q86U94, Q8N6H4, Q9UPL5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 7, 2003
Last modified: September 7, 2016
This is version 146 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.