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Protein

RAD51-associated protein 1

Gene

RAD51AP1

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

Functioni

May participate in a common DNA damage response pathway associated with the activation of homologous recombination and double-strand break repair. Functionally cooperates with PALB2 in promoting of D-loop formation by RAD51. Binds to single and double stranded DNA, and is capable of aggregating DNA. Also binds RNA.2 Publications

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 functionDNA-binding, RNA-binding
Biological processDNA damage, DNA recombination, DNA repair

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

Names & Taxonomyi

Protein namesi
Recommended name:
RAD51-associated protein 1
Alternative name(s):
RAD51-interacting protein
Gene namesi
Name:RAD51AP1Imported
Synonyms:PIR51
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000111247.14
HGNCiHGNC:16956 RAD51AP1
MIMi603070 gene
neXtProtiNX_Q96B01

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi333R → A: Strongly decreases interaction with RAD51; when associated with Q-336; A-345 and A-346. 1 Publication1
Mutagenesisi336L → Q: Strongly decreases interaction with RAD51; when associated with A-333; A-345 and A-346. 1 Publication1
Mutagenesisi345 – 346LH → AA: Strongly decreases interaction with RAD51; when associated with A-333; and Q-336. 1 Publication2

Organism-specific databases

DisGeNETi10635
OpenTargetsiENSG00000111247
PharmGKBiPA134871784

Polymorphism and mutation databases

BioMutaiRAD51AP1
DMDMi68565925

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000971401 – 352RAD51-associated protein 1Add BLAST352

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei19PhosphoserineCombined sources1
Modified residuei21PhosphoserineCombined sources1
Modified residuei66PhosphothreonineCombined sources1
Modified residuei120PhosphoserineCombined sources1
Modified residuei124PhosphoserineCombined sources1
Modified residuei280PhosphoserineCombined sources1
Modified residuei327PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96B01
MaxQBiQ96B01
PaxDbiQ96B01
PeptideAtlasiQ96B01
PRIDEiQ96B01
TopDownProteomicsiQ96B01-1 [Q96B01-1]

PTM databases

iPTMnetiQ96B01
PhosphoSitePlusiQ96B01

Expressioni

Tissue specificityi

Highly expressed in testis and thymus. Lower levels in colon and small intestine. Little or no expression in spleen, prostate, ovary and peripheral blood leukocytes.1 Publication

Gene expression databases

BgeeiENSG00000111247
CleanExiHS_RAD51AP1
ExpressionAtlasiQ96B01 baseline and differential
GenevisibleiQ96B01 HS

Organism-specific databases

HPAiHPA051499

Interactioni

Subunit structurei

Isoform 2 interacts with RAD51. Interacts with PALB2. Interacts (via C-terminal region) with RAD51; the interaction is direct.4 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi115879, 15 interactors
DIPiDIP-35257N
IntActiQ96B01, 10 interactors
STRINGi9606.ENSP00000228843

Structurei

3D structure databases

ProteinModelPortaliQ96B01
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni313 – 352Interaction with RAD51Add BLAST40

Phylogenomic databases

eggNOGiENOG410IICA Eukaryota
ENOG4111WAW LUCA
GeneTreeiENSGT00730000111239
HOGENOMiHOG000116153
HOVERGENiHBG079699
InParanoidiQ96B01
KOiK20778
OMAiEDFSMRK
OrthoDBiEOG091G0OEX
PhylomeDBiQ96B01
TreeFamiTF335955

Family and domain databases

InterProiView protein in InterPro
IPR026632 RAD51-assoc_prot_1
IPR031419 RAD51_interact
PANTHERiPTHR15361:SF4 PTHR15361:SF4, 1 hit
PfamiView protein in Pfam
PF15696 RAD51_interact, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.1 Publication
Isoform 1Curated (identifier: Q96B01-1) [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
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
Length:352
Mass (Da):38,457
Last modified:December 1, 2001 - v1
Checksum:iE582EE4BC459DD92
GO
Isoform 21 Publication (identifier: Q96B01-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     71-87: Missing.

Show »
Length:335
Mass (Da):36,757
Checksum:i71BBA478F55C5D39
GO
Isoform 31 Publication (identifier: Q96B01-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     258-307: Missing.

Show »
Length:302
Mass (Da):33,142
Checksum:iF667DBB6B8DF19E6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05697668K → Q. Corresponds to variant dbSNP:rs34810644Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05173971 – 87Missing in isoform 2. 3 PublicationsAdd BLAST17
Alternative sequenceiVSP_051740258 – 307Missing in isoform 3. 1 PublicationAdd BLAST50

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
CCDSiCCDS44805.1 [Q96B01-1]
CCDS8529.1 [Q96B01-2]
RefSeqiNP_001124334.1, NM_001130862.1 [Q96B01-1]
NP_006470.1, NM_006479.4 [Q96B01-2]
UniGeneiHs.730696

Genome annotation databases

EnsembliENST00000228843; ENSP00000228843; ENSG00000111247 [Q96B01-1]
ENST00000352618; ENSP00000309479; ENSG00000111247 [Q96B01-2]
GeneIDi10635
KEGGihsa:10635
UCSCiuc001qmu.4 human [Q96B01-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiR51A1_HUMAN
AccessioniPrimary (citable) accession number: Q96B01
Secondary accession number(s): A8K7D3, O43403, Q7Z779
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: December 1, 2001
Last modified: May 23, 2018
This is version 139 of the entry and version 1 of the sequence. See 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 12
    Human chromosome 12: 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

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