Aliases for RAD51AP1 Gene

Aliases for RAD51AP1 Gene

  • RAD51 Associated Protein 1 2 3 5
  • RAD51-Associated Protein 1 3 4
  • RAD51-Interacting Protein 3 4
  • PIR51 3 4

External Ids for RAD51AP1 Gene

Previous GeneCards Identifiers for RAD51AP1 Gene

  • GC12P004519
  • GC12P004647
  • GC12P004651
  • GC12P005883
  • GC12P006037
  • GC12P006058
  • GC12P004694
  • GC12P004858
  • GC12P005014
  • GC12P005177
  • GC12P005328
  • GC12P005491
  • GC12P005649
  • GC12P005781

Summaries for RAD51AP1 Gene

GeneCards Summary for RAD51AP1 Gene

RAD51AP1 (RAD51 Associated Protein 1) is a Protein Coding gene. Diseases associated with RAD51AP1 include Fanconi Anemia, Complementation Group A. Among its related pathways are Homologous DNA Pairing and Strand Exchange and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include RNA binding and single-stranded DNA binding. An important paralog of this gene is NUCKS1.

UniProtKB/Swiss-Prot Summary for RAD51AP1 Gene

  • 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.

Additional gene information for RAD51AP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAD51AP1 Gene

Genomics for RAD51AP1 Gene

GeneHancer (GH) Regulatory Elements for RAD51AP1 Gene

Promoters and enhancers for RAD51AP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J004537 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.1 55 3.6 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 TCF12 POLR2G USF1 SP1 C12orf4 RAD51AP1 lnc-C12orf4-1 HSALNG0088727
GH12J004561 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 +23.4 23442 1.2 NRF1 TEAD4 ZIC2 ZBTB26 REST RFX1 MYC HDAC2 ZNF341 ZSCAN9 DYRK4 lnc-RAD51AP1-1 C12orf4 RAD51AP1 AKAP3 HSALNG0088727
GH12J004568 Promoter/Enhancer 1 Ensembl ENCODE 11.8 +29.2 29155 2.6 SRF NBN SPI1 ELF1 NR2F1 IKZF1 BHLHE40 NR2F6 MTA2 IKZF2 AKAP3 C12orf4 RAD51AP1 ENSG00000256748 NDUFA9 TIGAR lnc-RAD51AP1-1 DYRK4 piR-48209-101
GH12J004439 Enhancer 0.9 ENCODE CraniofacialAtlas 10.1 -97.5 -97491 2.9 ZIC2 OSR2 ZBTB17 ZFHX2 ZNF335 ZBTB48 IKZF3 KLF17 ZNF843 EZH2 C12orf4 FGF23 RAD51AP1 FGF6 piR-48373-003
GH12J004506 Enhancer 0.8 ENCODE 10.8 -31.5 -31530 1.8 NCOR1 FOXA1 MEF2C TEAD1 FOXA2 CBFB SAP130 BATF IRF4 STAT5A piR-46002-100 FGF6 FGF23 RAD51AP1 C12orf4 TIGAR lnc-FGF6-2 piR-33614-048
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAD51AP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAD51AP1

Top Transcription factor binding sites by QIAGEN in the RAD51AP1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha2

Genomic Locations for RAD51AP1 Gene

Genomic Locations for RAD51AP1 Gene
chr12:4,538,746-4,560,048
(GRCh38/hg38)
Size:
21,303 bases
Orientation:
Plus strand
chr12:4,647,950-4,669,214
(GRCh37/hg19)
Size:
21,265 bases
Orientation:
Plus strand

Genomic View for RAD51AP1 Gene

Genes around RAD51AP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAD51AP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAD51AP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAD51AP1 Gene

Proteins for RAD51AP1 Gene

  • Protein details for RAD51AP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96B01-R51A1_HUMAN
    Recommended name:
    RAD51-associated protein 1
    Protein Accession:
    Q96B01
    Secondary Accessions:
    • A8K7D3
    • O43403
    • Q7Z779

    Protein attributes for RAD51AP1 Gene

    Size:
    352 amino acids
    Molecular mass:
    38457 Da
    Quaternary structure:
    • Isoform 2 interacts with RAD51. Interacts with PALB2. Interacts (via C-terminal region) with RAD51; the interaction is direct.

    Alternative splice isoforms for RAD51AP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RAD51AP1 Gene

Post-translational modifications for RAD51AP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RAD51AP1 Gene

Domains & Families for RAD51AP1 Gene

Gene Families for RAD51AP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAD51AP1 Gene

Suggested Antigen Peptide Sequences for RAD51AP1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79266, highly similar to RAD51-associated protein 1 (B4DUS5_HUMAN)
  • RAD51-interacting protein (R51A1_HUMAN)
genes like me logo Genes that share domains with RAD51AP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RAD51AP1 Gene

Function for RAD51AP1 Gene

Molecular function for RAD51AP1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for RAD51AP1 Gene

Gene Ontology (GO) - Molecular Function for RAD51AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding TAS,IDA 9396801
GO:0003697 single-stranded DNA binding TAS,IDA 9396801
GO:0003723 RNA binding TAS,IDA 9396801
GO:0005515 protein binding IPI 9396801
genes like me logo Genes that share ontologies with RAD51AP1: view
genes like me logo Genes that share phenotypes with RAD51AP1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RAD51AP1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAD51AP1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RAD51AP1 Gene

Localization for RAD51AP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAD51AP1 Gene

Nucleus. Note=Colocalizes with RAD51 to multiple nuclear foci. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAD51AP1 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAD51AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 26323318
GO:0005634 nucleus TAS,IDA 26323318
GO:0005654 nucleoplasm TAS --
GO:0032991 protein-containing complex IMP 16990250
genes like me logo Genes that share ontologies with RAD51AP1: view

Pathways & Interactions for RAD51AP1 Gene

genes like me logo Genes that share pathways with RAD51AP1: view

Gene Ontology (GO) - Biological Process for RAD51AP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000724 double-strand break repair via homologous recombination NAS 9396801
GO:0006281 DNA repair NAS,TAS 9396801
GO:0006310 DNA recombination IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0010569 regulation of double-strand break repair via homologous recombination IDA 23754376
genes like me logo Genes that share ontologies with RAD51AP1: view

No data available for SIGNOR curated interactions for RAD51AP1 Gene

Drugs & Compounds for RAD51AP1 Gene

No Compound Related Data Available

Transcripts for RAD51AP1 Gene

mRNA/cDNA for RAD51AP1 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAD51AP1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAD51AP1 Gene

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

Relevant External Links for RAD51AP1 Gene

GeneLoc Exon Structure for
RAD51AP1

Expression for RAD51AP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAD51AP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RAD51AP1 Gene

This gene is overexpressed in Bone (68.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAD51AP1 Gene



Protein tissue co-expression partners for RAD51AP1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAD51AP1

SOURCE GeneReport for Unigene cluster for RAD51AP1 Gene:

Hs.730696

mRNA Expression by UniProt/SwissProt for RAD51AP1 Gene:

Q96B01-R51A1_HUMAN
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.
genes like me logo Genes that share expression patterns with RAD51AP1: view

No data available for mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for RAD51AP1 Gene

Orthologs for RAD51AP1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RAD51AP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAD51AP1 31 30
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAD51AP1 31 30
  • 85.42 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAD51AP1 31 31 30
  • 79.63 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Rad51ap1 17 31 30
  • 72.31 (n)
rat
(Rattus norvegicus)
Mammalia Rad51ap1 30
  • 71.59 (n)
oppossum
(Monodelphis domestica)
Mammalia RAD51AP1 31
  • 48 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RAD51AP1 31
  • 39 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAD51AP1 31 30
  • 58.01 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rad51ap1 30
  • 55.08 (n)
Str.6355 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.24463 30
zebrafish
(Danio rerio)
Actinopterygii rad51ap1 31 30
  • 46.32 (n)
OneToOne
Species where no ortholog for RAD51AP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAD51AP1 Gene

ENSEMBL:
Gene Tree for RAD51AP1 (if available)
TreeFam:
Gene Tree for RAD51AP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAD51AP1: view image

Paralogs for RAD51AP1 Gene

Paralogs for RAD51AP1 Gene

Pseudogenes.org Pseudogenes for RAD51AP1 Gene

genes like me logo Genes that share paralogs with RAD51AP1: view

Variants for RAD51AP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAD51AP1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
707896 Likely Benign: not provided 4,553,054(+) A/T MISSENSE_VARIANT
768505 Benign: not provided 4,543,897(+) A/C MISSENSE_VARIANT
777230 Benign: not provided 4,545,773(+) T/C INTRON_VARIANT
779387 Benign: not provided 4,558,865(+) G/A MISSENSE_VARIANT
787918 Benign: not provided 4,541,894(+) C/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RAD51AP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for RAD51AP1 Gene

Variant ID Type Subtype PubMed ID
nsv1040098 CNV gain 25217958
nsv483060 CNV loss 15286789
nsv557123 CNV gain 21841781
nsv832318 CNV gain 17160897

Variation tolerance for RAD51AP1 Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.07; 60.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAD51AP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAD51AP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAD51AP1 Gene

Disorders for RAD51AP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RAD51AP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RAD51AP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAD51AP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RAD51AP1 Gene

Publications for RAD51AP1 Gene

  1. RAD51AP2, a novel vertebrate- and meiotic-specific protein, shares a conserved RAD51-interacting C-terminal domain with RAD51AP1/PIR51. (PMID: 16990250) Kovalenko OV … Schild D (Nucleic acids research 2006) 3 4 23 54
  2. A novel nucleic acid-binding protein that interacts with human rad51 recombinase. (PMID: 9396801) Kovalenko OV … Radding CM (Nucleic acids research 1997) 2 3 4 54
  3. FIGNL1-containing protein complex is required for efficient homologous recombination repair. (PMID: 23754376) Yuan J … Chen J (Proceedings of the National Academy of Sciences of the United States of America 2013) 3 4 54
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41 54
  5. Enhancement of RAD51 recombinase activity by the tumor suppressor PALB2. (PMID: 20871616) Dray E … Sung P (Nature structural & molecular biology 2010) 3 4 54

Products for RAD51AP1 Gene

Sources for RAD51AP1 Gene