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RAD51D RAD51 paralog D [ Homo sapiens (human) ]

Gene ID: 5892, updated on 20-Dec-2019

Summary

Official Symbol
RAD51Dprovided by HGNC
Official Full Name
RAD51 paralog Dprovided by HGNC
Primary source
HGNC:HGNC:9823
See related
Ensembl:ENSG00000185379 MIM:602954
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

Genomic context

See RAD51D in Genome Data Viewer
Location:
17q12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (35092221..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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Breast-ovarian cancer, familial 4
MedGen: C3280345 OMIM: 614291 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2019-10-09)

ClinGen Genome Curation Page
Haploinsufficency

Some evidence for dosage pathogenicity (Last evaluated (2019-10-09)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to four-way junction DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
reciprocal meiotic recombination TAS
Traceable Author Statement
more info
PubMed 
regulation of cell cycle IEA
Inferred from Electronic Annotation
more info
 
strand invasion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
strand invasion IDA
Inferred from Direct Assay
more info
PubMed 
telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Rad51B-Rad51C-Rad51D-XRCC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rad51B-Rad51C-Rad51D-XRCC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA repair protein RAD51 homolog 4
Names
RAD51 homolog D
RAD51-like protein 3
recombination repair protein

NCBI Reference Sequences (RefSeq)

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_001142571.2NP_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)
    AC022916, AK296241, AL117459, BX647297
    Consensus CDS
    CCDS45646.1
    UniProtKB/Swiss-Prot
    O75771
    Related
    ENSP00000466399.1, ENST00000590016.5
    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, ENST00000345365.10
    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_133629.3NP_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)
    AC022916, AL117459, BX647297
    Consensus CDS
    CCDS11288.1
    UniProtKB/Swiss-Prot
    O75771
    Related
    ENSP00000338408.6, ENST00000335858.11
    Conserved Domains (1) summary
    cl21455
    Location:36205
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. NR_037711.2 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, AC022916, AL117459, BI916871
  2. NR_037712.2 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, AC022916, AL117459, BI916871

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    35092221..35119869 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.
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