UniProtKB - Q96B01 (R51A1_HUMAN)
RAD51-associated protein 1
RAD51AP1
Functioni
GO - Molecular functioni
- double-stranded DNA binding Source: UniProtKB
- RNA binding Source: UniProtKB
- single-stranded DNA binding Source: UniProtKB
GO - Biological processi
- cellular response to ionizing radiation Source: UniProtKB
- DNA repair Source: ProtInc
- double-strand break repair via homologous recombination Source: ParkinsonsUK-UCL
- interstrand cross-link repair Source: ParkinsonsUK-UCL
- regulation of double-strand break repair via homologous recombination Source: UniProtKB
Keywordsi
Molecular function | DNA-binding, RNA-binding |
Biological process | DNA damage, DNA recombination, DNA repair, Meiosis |
Enzyme and pathway databases
PathwayCommonsi | Q96B01 |
Reactomei | R-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 |
Names & Taxonomyi
Protein namesi | Recommended name: RAD51-associated protein 1CuratedShort name: HsRAD51AP11 Publication Alternative name(s): RAD51-interacting protein1 Publication |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000111247.14 |
HGNCi | HGNC:16956, RAD51AP1 |
MIMi | 603070, gene |
neXtProti | NX_Q96B01 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Other locations
- Chromosome 2 Publications
- telomere 1 Publication
Note: Colocalizes with RAD51 to multiple nuclear foci (By similarity). Colocalizes with DMC1 on meiotic chromatin (By similarity).By similarity
Nucleus
- nuclear chromatin Source: ParkinsonsUK-UCL
- nucleoplasm Source: Reactome
- nucleus Source: ParkinsonsUK-UCL
Other locations
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Chromosome, Nucleus, TelomerePathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 34 – 47 | KKSRT…LKQDK → AASATAPAELAQDA in K6RA; impaired DNA-binding. 1 PublicationAdd BLAST | 14 | |
Mutagenesisi | 34 – 37 | KKSR → AASA in K2RA; impaired DNA-binding. 1 Publication | 4 | |
Mutagenesisi | 44 | K → R: Does not affect sumoylation. 1 Publication | 1 | |
Mutagenesisi | 150 – 153 | DYLD → AYLA: Abolished interaction with WDR48/UAF1. 1 Publication | 4 | |
Mutagenesisi | 154 – 159 | LDKITV → ADKATA: Reduced sumoylation. Reduced ubiquitination. 1 Publication | 6 | |
Mutagenesisi | 154 – 157 | LDKI → ADKA: Decreased interaction with WDR48/UAF1. 1 Publication | 4 | |
Mutagenesisi | 156 | K → R: Does not affect interaction with WDR48/UAF1. 1 Publication | 1 | |
Mutagenesisi | 157 – 159 | ITV → ATA: Decreased interaction with WDR48/UAF1. 1 Publication | 3 | |
Mutagenesisi | 240 | K → R: Does not affect sumoylation. 1 Publication | 1 | |
Mutagenesisi | 248 – 253 | KKSKSK → AASASA in K4A; reduced DNA-binding. In K7WA; strongly decreased DNA-binding; when associated with 300-A--A-304. 1 Publication | 6 | |
Mutagenesisi | 269 | K → R: Strongly reduced sumoylation. Strongly reduced ubiquitination. 1 Publication | 1 | |
Mutagenesisi | 300 – 304 | KKPKW → AAPAA in K3WA; reduced DNA-binding. In K7WA; strongly decreased DNA-binding; when associated with 248-A--A-253. 1 Publication | 5 | |
Mutagenesisi | 304 | W → A: Abolished interaction with DMC1 without affecting interaction with RAD51. 1 Publication | 1 | |
Mutagenesisi | 326 | K → R: Does not affect sumoylation. 1 Publication | 1 | |
Mutagenesisi | 327 – 352 | Missing : Abolished interaction with RAD51. 1 PublicationAdd BLAST | 26 | |
Mutagenesisi | 328 – 352 | Missing in mutant delta25; abolished interaction with RAD51. 1 PublicationAdd BLAST | 25 | |
Mutagenesisi | 333 | R → A: Strongly decreases interaction with RAD51; when associated with Q-336, A-345 and A-346. 1 Publication | 1 | |
Mutagenesisi | 336 | L → Q: Strongly decreases interaction with RAD51; when associated with A-333, A-345 and A-346. Decreased interacting with RAD51 and ability to stimulate RAD51-mediated homologous recombination. Does not affect interaction with DMC1. 3 Publications | 1 | |
Mutagenesisi | 345 – 346 | LH → AA: Strongly decreases interaction with RAD51; when associated with A-333; and Q-336. 1 Publication | 2 | |
Mutagenesisi | 346 | H → A: Decreased interacting with RAD51 and ability to stimulate RAD51-mediated homologous recombination. Does not affect interaction with DMC1. 2 Publications | 1 |
Organism-specific databases
DisGeNETi | 10635 |
OpenTargetsi | ENSG00000111247 |
PharmGKBi | PA134871784 |
Miscellaneous databases
Pharosi | Q96B01, Tbio |
Polymorphism and mutation databases
BioMutai | RAD51AP1 |
DMDMi | 68565925 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000097140 | 1 – 352 | RAD51-associated protein 1Add BLAST | 352 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 19 | PhosphoserineCombined sources | 1 | |
Modified residuei | 21 | PhosphoserineCombined sources | 1 | |
Modified residuei | 66 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 120 | PhosphoserineCombined sources | 1 | |
Modified residuei | 124 | PhosphoserineCombined sources | 1 | |
Cross-linki | 251 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin; alternate)1 Publication | ||
Cross-linki | 269 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
Modified residuei | 280 | PhosphoserineCombined sources | 1 | |
Modified residuei | 327 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q96B01 |
jPOSTi | Q96B01 |
MassIVEi | Q96B01 |
MaxQBi | Q96B01 |
PaxDbi | Q96B01 |
PeptideAtlasi | Q96B01 |
PRIDEi | Q96B01 |
ProteomicsDBi | 76027 [Q96B01-1] 76028 [Q96B01-2] 76029 [Q96B01-3] |
TopDownProteomicsi | Q96B01-1 [Q96B01-1] |
PTM databases
iPTMneti | Q96B01 |
PhosphoSitePlusi | Q96B01 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000111247, Expressed in secondary oocyte and 185 other tissues |
ExpressionAtlasi | Q96B01, baseline and differential |
Genevisiblei | Q96B01, HS |
Organism-specific databases
HPAi | ENSG00000111247, Tissue enhanced (lymphoid) |
Interactioni
Subunit structurei
Monomer; elongated monodisperse monomer (PubMed:17996710).
Interacts (via C-terminal region) with RAD51; the interaction is direct (PubMed:16990250, PubMed:23754376, PubMed:9396801, PubMed:17996710, PubMed:17996711, PubMed:21903585).
Interacts (via SIM motif) with WDR48/UAF1; WDR48/UAF1 and RAD51AP1 cooperate together to stimulate RAD51-mediated homologous recombination (HR) (PubMed:27463890, PubMed:27239033).
Interacts (via WVPP motif) with DMC1; the interaction is direct (PubMed:21903585, PubMed:21307306).
Interacts with PALB2 (PubMed:20871616).
Interacts with RAD52 (PubMed:31400850).
11 PublicationsDoes not interact with DMC1; lack of interaction is caused by the absence of the WVPP motif in this isoform.
1 PublicationBinary interactionsi
Hide detailsQ96B01
With | #Exp. | IntAct |
---|---|---|
SIAH1 [Q8IUQ4] | 3 | EBI-1178724,EBI-747107 |
SIAH1 - isoform 2 [Q8IUQ4-2] | 3 | EBI-1178724,EBI-11522811 |
Isoform 2 [Q96B01-2]
With | #Exp. | IntAct |
---|---|---|
DMC1 [Q14565] | 3 | EBI-1178743,EBI-930865 |
PALB2 [Q86YC2] | 2 | EBI-1178743,EBI-1222653 |
RAD51 [Q06609] | 6 | EBI-1178743,EBI-297202 |
SIAH1 [Q8IUQ4] | 3 | EBI-1178743,EBI-747107 |
Isoform 3 [Q96B01-3]
With | #Exp. | IntAct |
---|---|---|
RAD51 [Q06609] | 6 | EBI-1178748,EBI-297202 |
Protein-protein interaction databases
BioGRIDi | 115879, 19 interactors |
DIPi | DIP-35257N |
IntActi | Q96B01, 17 interactors |
STRINGi | 9606.ENSP00000228843 |
Miscellaneous databases
RNActi | Q96B01, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 30 – 49 | Interaction with DNA1 PublicationAdd BLAST | 20 | |
Regioni | 243 – 304 | Interaction with DNA1 PublicationAdd BLAST | 62 | |
Regioni | 313 – 352 | Interaction with RAD514 PublicationsAdd BLAST | 40 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 154 – 159 | SIM motif2 Publications | 6 | |
Motifi | 304 – 307 | WVPP motif1 Publication | 4 |
Phylogenomic databases
eggNOGi | ENOG502RXRS, Eukaryota |
GeneTreei | ENSGT00940000153414 |
HOGENOMi | CLU_067355_1_0_1 |
InParanoidi | Q96B01 |
OMAi | KVQLPVD |
OrthoDBi | 1109145at2759 |
PhylomeDBi | Q96B01 |
TreeFami | TF335955 |
Family and domain databases
InterProi | View protein in InterPro IPR026632, RAD51-assoc_prot_1 IPR031419, RAD51_interact |
PANTHERi | PTHR15361:SF4, PTHR15361:SF4, 1 hit |
Pfami | View protein in Pfam PF15696, RAD51_interact, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVRPVRHKKP VNYSQFDHSD SDDDFVSATV PLNKKSRTAP KELKQDKPKP
60 70 80 90 100
NLNNLRKEEI PVQEKTPKKR LPEGTFSIPA SAVPCTKMAL DDKLYQRDLE
110 120 130 140 150
VALALSVKEL PTVTTNVQNS QDKSIEKHGS SKIETMNKSP HISNCSVASD
160 170 180 190 200
YLDLDKITVE DDVGGVQGKR KAASKAAAQQ RKILLEGSDG DSANDTEPDF
210 220 230 240 250
APGEDSEDDS DFCESEDNDE DFSMRKSKVK EIKKKEVKVK SPVEKKEKKS
260 270 280 290 300
KSKCNALVTS VDSAPAAVKS ESQSLPKKVS LSSDTTRKPL EIRSPSAESK
310 320 330 340 350
KPKWVPPAAS GGSRSSSSPL VVVSVKSPNQ SLRLGLSRLA RVKPLHPNAT
ST
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H1Y0 | F5H1Y0_HUMAN | RAD51-associated protein 1 | RAD51AP1 | 235 | Annotation score: | ||
H0YGT5 | H0YGT5_HUMAN | RAD51-associated protein 1 | RAD51AP1 | 258 | Annotation score: | ||
F5H710 | F5H710_HUMAN | RAD51-associated protein 1 | RAD51AP1 | 74 | Annotation score: | ||
H0YFK6 | H0YFK6_HUMAN | RAD51-associated protein 1 | RAD51AP1 | 68 | Annotation score: | ||
F5H031 | F5H031_HUMAN | RAD51-associated protein 1 | RAD51AP1 | 71 | Annotation score: | ||
F5H4V6 | F5H4V6_HUMAN | RAD51-associated protein 1 | RAD51AP1 | 70 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_056976 | 68 | K → Q. Corresponds to variant dbSNP:rs34810644EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_051739 | 71 – 87 | Missing in isoform 2. 3 PublicationsAdd BLAST | 17 | |
Alternative sequenceiVSP_051740 | 258 – 307 | Missing in isoform 3. 1 PublicationAdd BLAST | 50 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF006259 mRNA Translation: AAC39554.1 AK096930 mRNA Translation: BAC04902.1 AK291948 mRNA Translation: BAF84637.1 CH471116 Genomic DNA Translation: EAW88844.1 BC006992 mRNA Translation: AAH06992.1 BC016330 mRNA Translation: AAH16330.1 |
CCDSi | CCDS44805.1 [Q96B01-1] CCDS8529.1 [Q96B01-2] |
RefSeqi | NP_001124334.1, NM_001130862.1 [Q96B01-1] NP_006470.1, NM_006479.4 [Q96B01-2] |
Genome annotation databases
Ensembli | ENST00000228843; ENSP00000228843; ENSG00000111247 [Q96B01-1] ENST00000352618; ENSP00000309479; ENSG00000111247 [Q96B01-2] |
GeneIDi | 10635 |
KEGGi | hsa:10635 |
UCSCi | uc001qmu.4, human [Q96B01-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF006259 mRNA Translation: AAC39554.1 AK096930 mRNA Translation: BAC04902.1 AK291948 mRNA Translation: BAF84637.1 CH471116 Genomic DNA Translation: EAW88844.1 BC006992 mRNA Translation: AAH06992.1 BC016330 mRNA Translation: AAH16330.1 |
CCDSi | CCDS44805.1 [Q96B01-1] CCDS8529.1 [Q96B01-2] |
RefSeqi | NP_001124334.1, NM_001130862.1 [Q96B01-1] NP_006470.1, NM_006479.4 [Q96B01-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 115879, 19 interactors |
DIPi | DIP-35257N |
IntActi | Q96B01, 17 interactors |
STRINGi | 9606.ENSP00000228843 |
PTM databases
iPTMneti | Q96B01 |
PhosphoSitePlusi | Q96B01 |
Polymorphism and mutation databases
BioMutai | RAD51AP1 |
DMDMi | 68565925 |
Proteomic databases
EPDi | Q96B01 |
jPOSTi | Q96B01 |
MassIVEi | Q96B01 |
MaxQBi | Q96B01 |
PaxDbi | Q96B01 |
PeptideAtlasi | Q96B01 |
PRIDEi | Q96B01 |
ProteomicsDBi | 76027 [Q96B01-1] 76028 [Q96B01-2] 76029 [Q96B01-3] |
TopDownProteomicsi | Q96B01-1 [Q96B01-1] |
Protocols and materials databases
Antibodypediai | 22279, 153 antibodies |
DNASUi | 10635 |
Genome annotation databases
Ensembli | ENST00000228843; ENSP00000228843; ENSG00000111247 [Q96B01-1] ENST00000352618; ENSP00000309479; ENSG00000111247 [Q96B01-2] |
GeneIDi | 10635 |
KEGGi | hsa:10635 |
UCSCi | uc001qmu.4, human [Q96B01-1] |
Organism-specific databases
CTDi | 10635 |
DisGeNETi | 10635 |
EuPathDBi | HostDB:ENSG00000111247.14 |
GeneCardsi | RAD51AP1 |
HGNCi | HGNC:16956, RAD51AP1 |
HPAi | ENSG00000111247, Tissue enhanced (lymphoid) |
MIMi | 603070, gene |
neXtProti | NX_Q96B01 |
OpenTargetsi | ENSG00000111247 |
PharmGKBi | PA134871784 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RXRS, Eukaryota |
GeneTreei | ENSGT00940000153414 |
HOGENOMi | CLU_067355_1_0_1 |
InParanoidi | Q96B01 |
OMAi | KVQLPVD |
OrthoDBi | 1109145at2759 |
PhylomeDBi | Q96B01 |
TreeFami | TF335955 |
Enzyme and pathway databases
PathwayCommonsi | Q96B01 |
Reactomei | R-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 |
Miscellaneous databases
BioGRID-ORCSi | 10635, 10 hits in 850 CRISPR screens |
ChiTaRSi | RAD51AP1, human |
GenomeRNAii | 10635 |
Pharosi | Q96B01, Tbio |
PROi | PR:Q96B01 |
RNActi | Q96B01, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000111247, Expressed in secondary oocyte and 185 other tissues |
ExpressionAtlasi | Q96B01, baseline and differential |
Genevisiblei | Q96B01, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026632, RAD51-assoc_prot_1 IPR031419, RAD51_interact |
PANTHERi | PTHR15361:SF4, PTHR15361:SF4, 1 hit |
Pfami | View protein in Pfam PF15696, RAD51_interact, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | R51A1_HUMAN | |
Accessioni | Q96B01Primary (citable) accession number: Q96B01 Secondary accession number(s): A8K7D3, O43403, Q7Z779 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 5, 2005 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 156 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations