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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAD51AP1 Gene

protein-coding   GIFtS: 50
GCID: GC12P004647

RAD51 associated protein 1

 Explore 5 diseases affiliated with
RAD51AP1 via our new
 Human Malady Compendium 
Biological research products
for RAD51AP1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RAD51 Associated Protein 11 2
PIR511 2 3 5
RAD51-Interacting Protein2 3
RAD51-Associated Protein 12

External Ids:    HGNC: 169561   Entrez Gene: 106352   Ensembl: ENSG000001112477   OMIM: 6030705   UniProtKB: Q96B013   

Export aliases for RAD51AP1 gene to outside databases

Previous GC identifer: GC12P004519


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: R51A1_HUMAN, Q96B01
Function: 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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_009759.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAD51AP1 gene promoter:
         E2F-3a   E2F-4   E2F-5   E2F-2   RORalpha2   PPAR-gamma1   E2F-1   E2F   POU2F1a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAD51AP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAD51AP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAD51AP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.2-p13.1   Ensembl cytogenetic band:  12p13.32   HGNC cytogenetic band: 12p13.2-p13.1

RAD51AP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAD51AP1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P004647:  view genomic region     (about GC identifiers)

Start:
4,647,950 bp from pter      End:
4,669,214 bp from pter
Size:
21,265 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: R51A1_HUMAN, Q96B01 (See protein sequence)
Recommended Name: RAD51-associated protein 1  
Size: 352 amino acids; 38457 Da
Subunit: Isoform 2 interacts with RAD51. Interacts with PALB2
Subcellular location: Nucleus (By similarity). Note=Colocalizes with RAD51 to multiple nuclear foci (By similarity)
Secondary accessions: A8K7D3 O43403 Q7Z779
Alternative splicing: 3 isoforms:  Q96B01-1   Q96B01-2   Q96B01-3   

Explore the universe of human proteins at neXtProt for RAD51AP1: NX_Q96B01

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96B01

  • RAD51AP1 Protein expression data from MOPED and PaxDb:    About this image 
    RAD51AP1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001124334.1  NP_006470.1  

    ENSEMBL proteins: 
     ENSP00000443837   ENSP00000438172   ENSP00000446002   ENSP00000439925   ENSP00000438422  
     ENSP00000399859   ENSP00000228843   ENSP00000309479   ENSP00000442890   ENSP00000446296  
     ENSP00000444769   ENSP00000439019   ENSP00000323750   ENSP00000439960  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RAD51AP1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IC9396801

    RAD51AP1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RAD51AP1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026632 RAD51-assoc_prot_1

    Graphical View of Domain Structure for InterPro Entry Q96B01

    ProtoNet protein and cluster: Q96B01


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: R51A1_HUMAN, Q96B01
    Function: 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

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003690double-stranded DNA binding IDA9396801
    GO:0003697single-stranded DNA binding IDA9396801
    GO:0003723RNA binding IDA9396801
    GO:0005515protein binding IPI--
         
    RAD51AP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RAD51AP1:
     Decreased homologous recombina 

         1 MGI phenotypic allele for Rad51ap1 (no phenotypes)

    RAD51AP1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RAD51AP1 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidRAD51AP1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAD51AP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAD51AP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for RAD51AP1 (Q96B011, 3 ENSP000002288434) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAD51Q066091, 3, ENSP000002678684EBI-1178743,EBI-1059207 I2D: score=3 STRING: ENSP00000267868
    USP12O753173, ENSP000002823444I2D: score=2 STRING: ENSP00000282344
    WDR48Q8TAF33, ENSP000003074914I2D: score=2 STRING: ENSP00000307491
    PALB2Q86YC23, ENSP000002615844I2D: score=1 STRING: ENSP00000261584
    USP46P620683, ENSP000004078184I2D: score=2 STRING: ENSP00000407818
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination NAS9396801
    GO:0006281DNA repair NAS9396801
    GO:0006310DNA recombination ----

    RAD51AP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAD51AP1
    Search CenterWatch for drugs/clinical trials and news about RAD51AP1 / R51A1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAD51AP1 gene (2 alternative transcripts): 
    NM_001130862.1  NM_006479.4  

    Unigene Cluster for RAD51AP1:

    RAD51 associated protein 1
    Hs.730696  [show with all ESTs]
    Unigene Representative Sequence: NM_001130862
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000536346 ENST00000536886 ENST00000544110 ENST00000398012 ENST00000535558
    ENST00000442992 ENST00000228843(uc001qmw.3) ENST00000352618(uc001qmu.3 uc010sep.2 uc010seq.2 uc009zeg.3)
    ENST00000538817 ENST00000544927 ENST00000536117 ENST00000544173 ENST00000544029
    ENST00000544931 ENST00000321524 ENST00000543041

    miRNA
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    hsa-miR-3163 hsa-miR-3671 hsa-miR-130a* hsa-miR-548e hsa-miR-23c hsa-miR-888* hsa-miR-548a-3p hsa-miR-587
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    Sirion Biotech Custom design and validation of potent shRNA sequences against RAD51AP1 
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    Additional cDNA sequence: 

    AF006259.1 AK096930.1 AK290428.1 AK291948.1 AK300773.1 AK309706.1 AK316367.1 AL832243.1 
    BC005973.1 BC006992.1 BC016330.1 

    8 DOTS entries:

    DT.40195650  DT.91742017  DT.95169368  DT.121151511  DT.91742019  DT.95193241  DT.100658616  DT.100706604 

    24/133 AceView cDNA sequences (see all 133):

    AA730059 AA948649 BM827863 AA232231 BM541402 AK096930 AV717411 BM817670 
    CB159768 AF006259 CR625391 BX424561 AI424788 BM669611 AL597257 BM460312 
    BU662851 AA577374 BQ438867 AW592917 BU165840 AA626685 BM698829 AI961178 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RAD51AP1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                                      -                                             
    SP2:                                      -     -                                       
    SP3:                                      -     -     -                                 
    SP4:                                            -                                       
    SP5:                                                                                    


    ECgene alternative splicing isoforms for RAD51AP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAD51AP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAGCTGTTA
    RAD51AP1 Expression
    About this image
    See RAD51AP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAD51AP1

    SOURCE GeneReport for Unigene cluster: Hs.730696

    UniProtKB/Swiss-Prot: R51A1_HUMAN, Q96B01
    Tissue specificity: 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

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RAD51AP1 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rad51ap11 , 5 RAD51 associated protein 11, 5 74.12(n)1
    64.05(a)1
      6 (61.92 cM)5
    193621  NM_009013.31  NP_033039.21 
     1269230505 
    chicken
    (Gallus gallus)
    Aves RAD51AP11 RAD51 associated protein 1 59.64(n)
    47.86(a)
      419042  XM_417234.3  XP_417234.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244632 Xenopus laevis transcribed sequence with weak similarity more 69.83(n)    BG515802.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rad51ap11 RAD51 associated protein 1 48.46(n)
    41.53(a)
      555714  NM_001044338.2  NP_001037803.2 


    ENSEMBL Gene Tree for RAD51AP1 (if available)
    TreeFam Gene Tree for RAD51AP1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RAD51AP1 gene
    NUCKS12  

    RAD51AP1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RAD51AP1
    PGOHUM00000237784


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/356 NCBI SNPs in RAD51AP1 are shown (see all 356    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs756339791,2
    F--4645951(+) CTAAGG/AAAGAA 3 -- int1 us2k11Minor allele frequency- A:0.14WA 118
    rs1889929771,2
    --4646003(+) GATTTA/CTTTAT 3 -- us2k1 int10--------
    rs746927871,2
    --4646088(+) CTGAAG/TTTATA 3 -- us2k1 int10--------
    rs1389437341,2
    --4646093(+) GTTATA/TGTAAT 3 -- int1 us2k10--------
    rs1422820341,2
    --4646146(+) TCATCC/TGCTTA 3 -- int1 us2k10--------
    rs740619461,2
    C--4646358(+) AATGCC/ATTTTC 3 -- us2k1 int12Minor allele frequency- A:0.05WA 120
    rs1925899431,2
    --4646373(+) GCCTAA/GAGCAC 3 -- us2k1 int10--------
    rs1995313251,2
    --4646743(+) AATAT-/AAAAAA 3 -- int1 us2k10--------
    rs1847508861,2
    --4646785(+) GCGGGA/GCTAAG 3 -- us2k1 int10--------
    rs169315301,2
    C,F,H--4646790(+) GCTAAG/ATTGAA 3 -- us2k1 int113Minor allele frequency- A:0.04NA NS WA 1540

    HapMap Linkage Disequilibrium report for RAD51AP1 (4647950 - 4669214 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RAD51AP1: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for RAD51AP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RAD51AP1 for disorders           About GeneDecksing

    OMIM gene information: 603070    OMIM disorders: --

    5 diseases for RAD51AP1:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma    hepatocellular carcinoma    carcinoma
    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: RAD51AP1 (2 documents)

    Export disorders for RAD51AP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAD51AP1 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with RAD51AP1)
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    1. A novel nucleic acid-binding protein that interacts with human rad51 recombinase. (PubMed id 9396801)1, 2, 3 Kovalenko O.V.... Radding C.M. (1997)
    2. Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2. (PubMed id 20871616)1, 2 Dray E.... Sung P. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Promotion of homologous recombination and genomic stability by RAD51AP1 via RAD51 recombinase enhancement. (PubMed id 17996711)1, 9 Wiese C....Schild D. (2007)
    6. Genes encoding Pir51, Beclin 1, RbAp48 and aldolase b are up or down-regulated in human primary hepatocellular carcinoma. (PubMed id 14966907)1, 9 Song H....Zhao M.J. (2004)
    7. RAD51AP2, a novel vertebrate- and meiotic-specific protein, shares a conserved RAD51-interacting C-terminal domain with RAD51AP1/PIR51. (PubMed id 16990250)2, 9 Kovalenko O.V....Schild D. (2006)
    8. Mechanistic insights into RAD51-associated protein 1 ( RAD51AP1) action in homologous DNA repair. (PubMed id 22375013)1 Dunlop M.H....Sung P. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10635 HGNC: 16956 AceView: RAD51AP1 Ensembl:ENSG00000111247 euGenes: HUgn10635
    ECgene: RAD51AP1 H-InvDB: RAD51AP1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAD51AP1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAD51AP1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAD51AP1 gene:
    Search GeneIP for patents involving RAD51AP1

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