Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    RAD51D RAD51 paralog D [ Homo sapiens (human) ]

    Gene ID: 5892, updated on 4-Feb-2018
    Official Symbol
    RAD51Dprovided by HGNC
    Official Full Name
    RAD51 paralog Dprovided by HGNC
    Primary source
    HGNC:HGNC:9823
    See related
    Ensembl:ENSG00000185379 MIM:602954; Vega:OTTHUMG00000132930
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TRAD; R51H3; BROVCA4; RAD51L3
    Summary
    The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in testis (RPKM 4.7), thyroid (RPKM 3.6) and 25 other tissues See more
    Orthologs
    Location:
    17q12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (35099792..35119869, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (33426811..33446888, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene DNA ligase 3 Neighboring gene RAD51L3-RFFL readthrough Neighboring gene oligosaccharyltransferase complex subunit pseudogene 7 Neighboring gene ring finger and FYVE like domain containing E3 ubiquitin protein ligase Neighboring gene ribosomal protein L37 pseudogene 22 Neighboring gene fibronectin type III domain containing 8 Neighboring gene notchless homolog 1 Neighboring gene unc-45 myosin chaperone B

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
      DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
    • HDR through Homologous Recombination (HRR), organism-specific biosystem (from REACTOME)
      HDR through Homologous Recombination (HRR), organism-specific biosystemHomology directed repair (HDR) through homologous recombination is known as homologous recombination repair (HRR). HRR occurs after extensive resection of DNA double strand break (DSB) ends, which cr...
    • Homologous DNA Pairing and Strand Exchange, organism-specific biosystem (from REACTOME)
      Homologous DNA Pairing and Strand Exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange begins with the displacement of RPA from 3'-ssDNA overhangs created by extensive resection of DNA double strand break (DSB) ends. R...
    • Homologous recombination, organism-specific biosystem (from KEGG)
      Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homologous recombination, conserved biosystem (from KEGG)
      Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
    • Homology Directed Repair, organism-specific biosystem (from REACTOME)
      Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
    • Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystem (from REACTOME)
      Presynaptic phase of homologous DNA pairing and strand exchange, organism-specific biosystemThe presynaptic phase of homologous DNA pairing and strand exchange during homologous recombination repair (HRR) begins with the displacement of RPA from ssDNA (Thompson and Limoli 2003) by the joint...
    • Resolution of D-Loop Structures, organism-specific biosystem (from REACTOME)
      Resolution of D-Loop Structures, organism-specific biosystemOnce repair synthesis has occurred, the D-loop structure may be resolved either through Holliday junction intermediates or through synthesis-dependent strand-annealing (SDSA) (Prado and Aguilera 2003...
    • Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Holliday Junction Intermediates, organism-specific biosystemD-loops generated after strand invasion and DNA repair synthesis during homologous recombination repair (HRR) can be resolved through Holliday junction intermediates.A D-loop can be cleaved by the co...
    • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystem (from REACTOME)
      Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA), organism-specific biosystemIn the synthesis-dependent strand-annealing (SDSA) model of D-loop resolution, D-loop strands extended by DNA repair synthesis dissociate from their sister chromatid complements and reanneal with the...
    • TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystem (from REACTOME)
      TP53 Regulates Transcription of DNA Repair Genes, organism-specific biosystemSeveral DNA repair genes contain p53 response elements and their transcription is positively regulated by TP53 (p53). TP53-mediated regulation probably ensures increased protein level of DNA repair g...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Readthrough RAD51L3-RFFL

    Readthrough gene: RAD51L3-RFFL, Included gene: RFFL

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA-dependent ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    double-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to endodeoxyribonuclease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to four-way junction DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    gamma-tubulin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    recombinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    DNA synthesis involved in DNA repair TAS
    Traceable Author Statement
    more info
     
    double-strand break repair via homologous recombination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    interstrand cross-link repair IEA
    Inferred from Electronic Annotation
    more info
     
    meiotic DNA recombinase assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleotide-excision repair IEA
    Inferred from Electronic Annotation
    more info
     
    reciprocal meiotic recombination TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    response to ionizing radiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    strand displacement TAS
    Traceable Author Statement
    more info
     
    strand invasion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Rad51B-Rad51C-Rad51D-XRCC2 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    replication fork IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    DNA repair protein RAD51 homolog 4
    Names
    RAD51 homolog D
    RAD51-like protein 3
    recombination repair protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031858.1 RefSeqGene

      Range
      5001..25078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_516

    mRNA and Protein(s)

    1. NM_001142571.1NP_001136043.1  DNA repair protein RAD51 homolog 4 isoform 6

      See identical proteins and their annotated locations for NP_001136043.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an in-frame exon but instead includes a different in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (6) is longer than isoform 1.
      Source sequence(s)
      AK296241, AL117459, BI916871, BX647297
      Consensus CDS
      CCDS45646.1
      UniProtKB/Swiss-Prot
      O75771
      Related
      ENSP00000466399.1, OTTHUMP00000262587, ENST00000590016.5, OTTHUMT00000448462
      Conserved Domains (1) summary
      cl21455
      Location:109337
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
    2. NM_002878.3NP_002869.3  DNA repair protein RAD51 homolog 4 isoform 1

      See identical proteins and their annotated locations for NP_002869.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as TRAD) encodes isoform 1.
      Source sequence(s)
      AL117459, BI916871, BX647297
      Consensus CDS
      CCDS11287.1
      UniProtKB/Swiss-Prot
      O75771
      Related
      ENSP00000338790.6, OTTHUMP00000163851, ENST00000345365.10, OTTHUMT00000256446
      Conserved Domains (2) summary
      cl27598
      Location:855
      TOP1Bc; Bacterial DNA topoisomeraes I ATP-binding domain
      cl28885
      Location:82317
      RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...
    3. NM_133629.2NP_598332.1  DNA repair protein RAD51 homolog 4 isoform 4

      See identical proteins and their annotated locations for NP_598332.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4, also known as TRAD-d3) lacks three alternate exons which results in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AL117459, BI916871, BX647297
      Consensus CDS
      CCDS11288.1
      UniProtKB/Swiss-Prot
      O75771
      Related
      ENSP00000338408.6, OTTHUMP00000163852, ENST00000335858.11, OTTHUMT00000256448
      Conserved Domains (1) summary
      cl21455
      Location:36205
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RNA

    1. NR_037711.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as TRAD-d1) lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB016223, AL117459, BI916871
    2. NR_037712.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5, also known as TRAD-d2) lacks an alternate exon in both the 5' and central regions, compared to variant 1. This variant is represented as non-coding because the use of the supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB016224, AL117459, BI916871

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      35099792..35119869 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      33491188..33511250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_133627.1: Suppressed sequence

      Description
      NM_133627.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate
    2. NM_133628.1: Suppressed sequence

      Description
      NM_133628.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    3. NM_133630.1: Suppressed sequence

      Description
      NM_133630.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
    Support Center